Mendelian Inheritance in Man

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1.1|10|23|87|1pter-p36.13|A12M2|P|Adenovirus-12 chromosome modification site-1p||102920|V|||||||| 1.2|9|11|95|1pter-p36.13|CCV|P|Cataract, congenital, Volkmann type||115665|Fd|linked to Rh in Scottish family||Cataract, congenital, Volkmann type (2)||||| 1.3|10|23|87|1pter-p36.13|ENO1, PPH|C|Enolase-1, alpha||172430|S, F, R, REa|||Enolase deficiency (1)|||4(Eno1)|| 1.4|10|23|87|1pter-p36.13|GDH|C|Glucose dehydrogenase||138090|S, F|||||||| 1.5|12|22|87|1pter-p36|ERPL1, HLM2|C|Endogenous retroviral pol gene-like sequence 1 (oncogene HLM2)||131190|REa, F|||||||| 1.6|1|18|95|1pter-p33|HMGCL|P|3-hydroxy-3-methylglutaryl-Coenzyme A lyase||246450|REa, A|||HMG-CoA lyase deficiency (3)|||4(Hmgcl)|| 1.7|12|16|93|1pter-p32|AGRN|P|Agrin||103320|REa||||||4(Agrn)|| 1.8|3|15|92|1pter-p31.2|GNB1|C|Guanine nucleotide-binding protein, beta polypeptide-1||139380|REa, A||||||4(Gnb1)|| 1.9|3|17|94|1pter-p22.1|MTS1, TFS1|C|Malignant transformation suppression-1||154280|S, H||||||4(Tfs1)|| 1.10|8|8|91|1pter-p21|SCP2|P|Sterol carrier protein-2||184755|Psh||||||4(Scp2)|| 1.11|8|13|91|1pter-q12|GJA5, CX40|P|Gap junction protein, alpha-5, 40kD (connexin 40)||121013|REa|||||||| 1.12|10|27|89|1p36.33-p36.22|CA6|P|Carbonic anhydrase VI||114780|REa, A|||||||| 1.13|9|12|96|1p36.3|HKR3|C|GLI-Kruppel family member HKR3||165270|REa, A|||||||| 1.14|10|4|93|1p36.3|MTHFR|P|Methylenetetrahydrofolate reductase||236250|A|||Homocystinuria due to MTHFR deficiency (3)||||| 1.15|10|23|87|1p36.3|RNU1|C|RNA, U1 small nuclear||180680|REa, A|?same as A12M2|||||3(Rnu1b1)|| 1.16|2|6|94|1p36.3-p34.3|HTR1D|C|5-hydroxytryptamine (serotonin) receptor-1D||182133|REa, A||||||4(Htr1d)|| 1.17|7|4|95|1p36.3-p36.2|NB, NBS|C|Neuroblastoma (neuroblastoma suppressor)||256700|Ch, D|||Neuroblastoma (2)||||| 1.18|1|1|95|1p36.3-p36.2|PLOD|P|Procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase)||153454|REa, A|||Ehlers-Danlos syndrome, type VI, 225400 (3)|||4(Plod)|Hautala (1992)| 1.19|9|15|96|1p36.3-p36.2|SCNN1D|P|Sodium channel, voltage-gated, type I, delta polypeptide||601328|A|||||||| 1.20|2|23|92|1p36.3-p36.2|TNFR2|C|Tumor necrosis factor receptor-2 (75kD)||191191|REa, A, Fd||||||4(Tnfr1)|| 1.21|11|18|96|1p36.3-p34.1|C1QA|C|Complement component-1, q subcomponent, alpha polypeptide||120550|REa, REb|||C1q deficiency, type A (3)||||| 1.22|11|18|96|1p36.3-p34.1|C1QB|C|Complement component-1, q subcomponent, beta polypeptide||120570|REa, REb|||C1q deficiency, type B (3)|||(C1qb)|| 1.23|11|18|96|1p36.3-p34.1|C1QG|P|Complement component-1, q subcomponent, gamma polypeptide||120575|REn, REb|||C1q deficiency, type C (3)||||| 1.24|6|2|94|1p36.2|NPPA, PND, ANP|C|Pronatriodilatin (atrial natriuretic peptide)||108780|REa, A, H||||||4(Pnd)|| 1.25|5|9|95|1p36.2|NPPB, BNP|C|Natriuretic peptide precursor B||600295|H, REa, A, Ren||||||4(Nppb)|| 1.26|4|10|90|1p36.2-p36.13|PGD|C|6-phosphogluconate dehydrogenase||172200|F, S||||||4(Pgd)|| 1.27|2|19|96|1p36.2-p36.12|PAX7|C|Paired box homeotic gene-7||167410|Psh, H, REa, A|fused with FKHR in rhabdomyosarcoma||Rhabdomyosarcoma, alveolar, 268220 (3)|||4(Pax7)|| 1.28|3|24|88|1p36.2-p36.1|FGR, SRC2|P|Oncogene FGR||164940|A, REb, REa, Fd|same as SRC2|||||4(Fgr)|| 1.29|9|22|96|1p36.2-p36.1|GLC3B|P|Glaucoma 3, primary infantile, B||600975|Fd|||Glaucoma, primary congenital, type B (2)||||| 1.30|1|1|95|1p36.2-p35|CDA|C|Cytidine deaminase||123920|A, Psh|||||||| 1.31|10|7|88|1p36.2-p34|EKV|C|Erythrokeratodermia variabilis||133200|F|theta = 0.03 with RH||Erythrokeratodermia variabilis (2)||||| 1.32|10|22|92|1p36.2-p34|EPB41, EL1|C|Erythrocyte surface protein band 4.1||130500|F, REb|linked to RH; 1p34.2-p33||Elliptocytosis-1 (3)|||4(Elp1)|| 1.33|10|23|87|1p36.2-p34|RD|C|Radin blood group||111620|F|||||||| 1.34|2|2|96|1p36.2-p34|RH@|C|RHESUS BLOOD GROUP CLUSTER||111700|F, D, Fd, A|Order: 1pter--D-C-E--cen||Erythroblastosis fetalis (1); Anemia, hemolytic, Rh-null (1)||||| 1.35|1|4|93|1p36.2-p34|RHCE|C|Rhesus system C and E polypeptides||111700|F, D, Fd|alternative splicing||||||| 1.36|1|10|89|1p36.2-p34|RHD|C|Rhesus system D polypeptide||111680|F, D, Fd|||||||| 1.37|10|23|87|1p36.2-p34|SC|C|Scianna blood group||111750|F|||||||| 1.38|1|11|95|1p36.13-p36.12|ID3|C|Inhibitor of DNA binding 3, dominant negative, helix-loop-helix|protein|600277|RE, A|||||||| 1.39|7|4|95|1p36.13-p36.11|D1S1733E, DAN|P|Differential-screening-selected gene aberrant in neuroblastoma||600613|A|aberrant in 3/26 neuroblastomas||?Neuroblastoma (3)|||4(D4H1S1733E)|| 1.40|1|1|95|1p36.1|CHC1, RCC1|C|Regulator of chromosome condensation||179710|REb, A||||||4(Chc1)|| 1.41|9|29|96|1p36.1|ECE1|C|Endothelin converting enzyme 1||600423|A, R, Psh|||||||| 1.42|5|9|95|1p36.1|ERK|P|elk-related tyrosine kinase||176946|REa, A||||||4(Elk)|| 1.43|4|11|97|1p36.1|EXTL|P|Multiple exostoses-like||601738|R, A|||||||| 1.44|10|12|90|1p36.1|HMG17|C|Nonhistone chromosomal protein HMG-17||163910|REa, A|||||||| 1.45|6|20|91|1p36.1|HSPG2, PLC|C|Heparan sulfate proteoglycan of basement membrane (perlecan)||142461|A, REa||||||4(Plc)|| 1.46|8|21|91|1p36.1|PRKACB|P|Protein kinase, cAMP-dependent, catalytic, beta||176892|REa, A|||||||| 1.47|2|15|96|1p36.1|TCEB3|P|Transcription elongation factor B (SIII), polypeptide 3 (110kD,|elongin A)|600786|A|||||||| 1.48|9|13|89|1p36.1|TRN|P|tRNA asparagine||189880|REa, RE|||||||| 1.49|1|23|96|1p36.1-p35|EPHT3, DRT|P|eph tyrosine kinase 3||600997|Psh, A|||||||| 1.50|1|24|93|1p36.1-p35|LAP18, SMN|P|Leukemia-associated phosphoprotein p18 (stathmin)||151442|REa, A||||||4(Lap18)|| 1.51|4|23|96|1p36.1-p35|MEMO1|P|Methylation modifier for class I HLA||601201|D|||||||| 1.52|10|22|95|1p36.1-p35|MFAP2, MAGP, MAGP1|P|Microfibrillar-associated protein 2||156790|REa, A||||||4(Mfap2)|| 1.53|2|26|95|1p36.1-p35|RAP1GA1|P|RAP1, GTPase activating protein 1||600278|A, REa|||||||| 1.54|3|28|95|1p36.1-p35|SLC9A1, NHE1, APNH|C|Solute carrier family 9 (sodium/hydrogen exhanger), isoform 1|(antiporter, Na+/H+, amiloride sensitive)|107310|A, F, Fd|3cM proximal to RH|||||4(Apnh, Nhe1)|| 1.55|9|22|95|1p36.1-p34|SJS, SJA|P|Schwartz-Jampel syndrome||255800|LD|||Schwartz-Jampel syndrome (2)||||| 1.56|1|1|95|1p36.1-p34.3|GPR3|C|G protein-coupled receptor 3||600241|A|||||||| 1.57|3|17|94|1p36.1-p34.3|OPRD1|P|Opioid receptor, delta-1||165195|H, A||||||4(Nbor, Oprd1)|| 1.58|3|26|90|1p36.1-p34|ALPL, HOPS|C|Alkaline phosphatase, liver/bone/kidney||171760|S, H, Fd, F, A|||Hypophosphatasia, infantile, 241500 (3); ?Hypophosphatasia, adult,|146300 (1)||4(Akp2)|| 1.59|10|2|89|1p36|BRCD2|P|Breast cancer, ductal||211420|Ch, F, D|||Breast cancer, ductal (2)||||| 1.60|1|11|95|1p36|CBFA3, PEBP2A3, AML2|C|Core-binding factor, runt domain, alpha subunit 3||600210|A, REa||||||4(Aml2, Cbfa3)|| 1.61|11|5|92|1p36|CD30, D1S166E|P|CD30 antigen (Ki-1 antigen)||153243|A||||||4(Cd30)|| 1.62|11|8|91|1p36|CDC2L1|P|Cell division cycle 2-like 1||176873|REa, A, Pcm|||||||| 1.63|1|4|93|1p36|CMM, MLM, DNS|P|Cutaneous malignant melanoma/dysplastic nevus||155600|F, Fd, D|some linkage studies negative; see 9p||Malignant melanoma, cutaneous (2)||||Greene (1983); Goldstein (1992)| 1.64|8|15|96|1p36|DVL1|C|Dishevelled 1 (homologous to Drosophila dsh)||601365|Psh, A|||||||| 1.65|2|23|95|1p36|E2F2|P|E2F transcription factor 2||600426|A|||||||| 1.66|4|18|97|1p36|EYA3|P|Eyes absent, drosophila, human homolog of, 3||601655|A, H||||||4(Eya3)|| 1.67|1|27|97|1p36|FRAP|P|FK506 binding protein 12-rapamycin associated protein||601231|A|||||||| 1.68|9|28|96|1p36|LUZP|L|Leucine zipper protein||601422|H||||||4(Luzp)|| 1.69|9|28|96|1p36|RIZ|P|Retinoblastoma protein-binding zinc-finger protein||601196|REc, A||||||4(Riz)|| 1.70|9|13|89|1p36|TRE|P|tRNA glutamic acid||180640|A|||||||| 1.71|3|5|95|1p36|TXGP1L, OX40, ACT35|P|Tax-transcriptionally activated glycoprotein 1 receptor (homolog of|rat OX40/ACT35 antigen)|600315|A||||||4(Ox40)|| 1.72|12|3|95|1p36-p35|CMT2A, CMT2|P|Charcot-Marie-Tooth neuropathy-2A (hereditary motor sensory neuropathy|II)|118210|Fd|some families unlinked to 1p||Charcot-Marie-Tooth disease, type IIA (2)||||| 1.73|4|30|91|1p36-p35|GALE|C|UDP galactose-4-epimerase||230350|S, LD|||Galactose epimerase deficiency (1)||||| 1.74|3|12|96|1p36-p35|HTR6|P|5-hydroxytryptamine (serotonin) receptor 6||601109|REa|||||||| 1.75|6|16|94|1p36-p35|MOM1|L|Mom-1, human homolog of||157975|H|?same as PLA2B||||||| 1.76|1|26|97|1p36-p34.1|SCCD|P|Schnyder crystalline corneal dystrophy||121800|Fd|||Corneal dystrophy, crystalline, Schnyder (2)||||| 1.77|12|3|91|1p36-p22|SRM, SPS1|C|Spermidine synthase-1||182891|REa, A, Psh|?pseudogene on 3p14-q21||||||| 1.78|2|18|96|1p35.1|GJA4, CX37|C|Gap junction protein, alpha-4, 37kD (connexin 37)||121012|REa, A, REc||||||(Gja4)|| 1.79|8|21|91|1p35|EBVS1|P|Epstein-Barr virus integration site||132850|A|||||||| 1.80|7|10|93|1p35|CRTM|C|Cartilage matrix protein||115437|REa, A, Fd|||||||| 1.81|3|21|93|1p35|G1P3, IFI616|C|Interferon, alpha-inducible protein (clone IFI-6-16)||147572|A, T|||||||| 1.82|4|10|96|1p35|PLA2G2A, PLA2B, PLA2L, MOM1|C|Phospholipase A2, group IIA (platelets, synovial fluid)||172411|REa||||||4(Pla2s)|| 1.83|1|20|97|1p35|PTP4A1|P|Protein tyrosine phosphatase IVA1||601584|A|||||||| 1.84|4|7|94|1p35|RPA2|P|Replication protein A2 (32kD)||179836|Psh, A|||||||| 1.85|6|3|94|1p35-p34.3|CSF3R, GCSFR|C|Colony-stimulating factor-3 receptor (granulocyte)||138971|A, REb, Psh, REa|||Kostmann neutropenia, 202700 (3)||||| 1.86|10|9|94|1p35-p34.3|LCK|C|Lymphocyte-specific protein tyrosine kinase||153390|A, H, Ch||||||4(Lck)|| 1.87|9|29|96|1p35-p34.3|PTAFR|C|Platelet-activating factor receptor||173393|REa, A|||||||| 1.88|5|9|95|1p35-p34|GUCA2|P|Guanylate cyclase activator 2 (guanylin 2, intestinal, heat-stable)||139392|A||||||4(Guca2)|| 1.89|11|28|94|1p35-p31.3|SLC2A1, GLUT1|C|Solute carrier family 2 (facilitated glucose transporter), member 1||138140|REa, A, Fd|probably in 1p33||||||| 1.90|7|10|91|1p34.4-p32.3|COL8A2|P|Collagen VIII, alpha-2 polypeptide||120252|A|||||||| 1.91|9|29|96|1p34.3|MYCL1, LMYC|C|Oncogene MYC, lung carcinoma-derived||164850|REa, A, F, REn||||||4(Lmyc1)|| 1.92|10|2|91|1p34.1|CTPS|C|Cytidine 5'-triphosphate synthetase||123860|REa, A|||||||| 1.93|2|24|97|1p34.1|HDAC1, RPD3L1|P|Histone deacetylase-1||601241|A|||||||| 1.94|3|17|94|1p34.1|PAGA|P|Proliferation-associated gene A||176763|A|pseudogene PAGB on 9p22||||||| 1.95|2|1|95|1p34.1-p32|RPS8|P|Ribosomal protein S8||600357|REa, Psh, A|||||||| 1.96|10|23|87|1p34|AK2|C|Adenylate kinase-2, mitochondrial||103020|S, F, R||||||4(Ak2)|| 1.97|3|21|93|1p34|COL16A1|C|Collagen, type XVI, alpha-1 polypeptide||120326|A, REa|||||||| 1.98|6|6|91|1p34|EDN2|C|Endothelin-2||131241|REa, A|vasoactive intestinal contractor (VIC) = mouse and rat equivalent||||||| 1.99|7|5|90|1p34|FUCA1|C|Fucosidase, alpha-L- 1, tissue||230000|S, F, R, A, REa|8cM distal to RH; pseudogene on 2q31-q32||Fucosidosis (3)|||4(Fuca)|| 1.100|2|6|94|1p34|HUD, PNEM|P|HU-antigen D (a paraneoplastic encephalomyelitis antigen)||168360|A|||Paraneoplastic sensory neuropathy (1)||||| 1.101|10|9|94|1p34|INPP5B|P|Inositol polyphosphate-5-phosphatase, 75kD||147264|REa, A||||||4(Inpp5b)|| 1.102|11|13|96|1p34|LAPTM5|P|Lysosomal-associated multispanning membrane protein-5||601476|A|||||||| 1.103|6|14|91|1p34|MPL|P|Myeloproliferative leukemia virus, human homolog of||159530|A|||||||| 1.104|10|23|87|1p34|UROD|C|Uroporphyrinogen decarboxylase||176100|S, A, REa|||Porphyria cutanea tarda (3); Porphyria, hepatoerythropoietic (3)|||4(Urod)|| 1.105|10|8|96|1p34|YB1|P|Major histocompatibility complex, class II, Y box-binding protein I||154030|A|||||||| 1.106|10|9|94|1p34-p33|GRIK3, GLUR7|P|Glutamate receptor, ionotropic, kainate 3||138243|REa, A|||||||| 1.107|1|1|95|1p34-p33|TIE, JTK14, TIE1|P|Tyrosine kinase with immunoglobulin and epidermal growth factor|homology domains|600222|A|||||||| 1.108|9|11|91|1p34-p12|CYP4B1|P|Cytochrome P450, subfamily IVB, member 1||124075|REa||||||4(Cyp4a)|| 1.109|11|4|91|1p34-p12|DDIT1, GADD45|P|DNA damage-inducible transcript-1||126335|REa|||||||| 1.110|11|3|94|1p33|MTF1|P|Metal-regulatory transcription factor 1||600172|A|||||||| 1.111|1|29|96|1p33|SLC6A9, GLYT1|C|Solute carrier family 6 (neurotransmitter transporter, glycine),|member 9|601019|A||||||4(Slc6a9)|| 1.112|1|29|96|1p33-p32.2|COL9A2, EDM2|C|Collagen, type IX, alpha 2||120260|REa, A, REn, Fd|||Epiphyseal dysplasia, multiple 2, 600204 (3)|||4(Col9a2)|| 1.113|9|22|95|1p33-p32|TGFBR3|P|Transforming growth factor, beta receptor III (betaglycan,|300kD)|600742|Psh, A|||||||| 1.114|3|17|94|1p33-p31|FABP3|C|Fatty acid-binding protein 3, muscle||134651|REa, A||||||4(Fabph1)|| 1.115|1|11|93|1p32|BLYM|P|Avian lymphoma virus-derived transforming sequence||164830|A|||||||| 1.116|1|4|93|1p32|C8A|C|Complement component-8, alpha polypeptide||120950|F, A, Ch, Fd|||C8 deficiency, type I (2)||||| 1.117|7|10|93|1p32|C8B|C|Complement component-8, beta polypeptide||120960|F, A, Ch, H, Fd|||C8 deficiency, type II (3)|||4(C8b)|| 1.118|9|11|95|1p32|CPT2|C|Carnitine palmitoyltransferase II||600650|REa, A|formerly at 1p13||Myopathy due to CPT II deficiency, 255110 (3); CPT deficiency,|hepatic, type II, 600649 (3)|||| 1.119|8|28|95|1p32|DFNA2|C|Deafness, autosomal dominant 2||600101|Fd|||Deafness, autosomal dominant 2 (2)||||| 1.120|11|13|94|1p32|EPS15|P|Epidermal growth factor receptor pathway substrate-15||600051|REc|||||||| 1.121|4|24|96|1p32|FKHL12|P|Forkhead (Drosophila)-like 12||601094|A|||||||| 1.122|9|22|95|1p32|PPT, CLN1|C|Palmitoyl-protein thioesterase||600722|Fd, LD, REn, A, REc|||Ceroid lipofuscinosis, neuronal-1, infantile, 256730 (3)||||| 1.123|3|21|93|1p32|PTPRF, LAR|P|Protein tyrosine phosphatase, receptor-type, f polypeptide||179590|A||||||4(Ptprf)|| 1.124|1|26|93|1p32|RLF|C|Rearranged L-myc fusion sequence||180610|REa, REn|<800kb from MYCL1||||||| 1.125|6|21|91|1p32|SIL|C|SCL interrupting locus||181590|REn|within about 250kb of SCL||||||| 1.126|8|22|91|1p32|TAL1, TCL5, SCL|C|T-cell acute lymphocytic leukemia-1||187040|Ch, RE|proximal to MYCL1||Leukemia-1, T-cell acute lymphoblastic (3)|||4(Scl)|| 1.127|10|23|87|1p32|UMPK|C|Uridine monophosphate kinase||191710|S, R, F|||||||| 1.128|8|21|91|1p32-p31|JUN|C|Avian sarcoma virus 17 (v-jun) oncogene homolog||165160|REa, A, H||||||4(Jun)|| 1.129|9|13|89|1p32-p31|RAB3B|P|Brain antigen RAB3B||179510|REb, A|||||||| 1.130|8|8|91|1p32-p31|VCAM1|P|Vascular cell adhesion molecule-1||192225|REa, A||||||3(Vcam1)|| 1.131|3|21|93|1p32-p22|IPP|P|Intracisternal A particle-promoted polypeptide||147485|REa||||||4(Ipp)|| 1.132|1|27|97|1p32-q12|M1S1|P|Membrane component, chromosome 1, surface marker 1 (40kD glycoprotein,|identified by monoclonal antibody GA733)|137290|REa|||||||| 1.133|7|10|93|1p31.3|JAK1|C|Janus kinase 1 (a protein-tyrosine kinase)||147795|REa, A, Fd|related gene on 9p24|||||4(Jak1)|| 1.134|9|22|95|1p31.3-p31.2|NFIA|P|Nuclear factor I/A||600727|A||||||?4(Nfia)|| 1.135|6|15|95|1p31.2|PTGER3, EP3|P|Prostaglandin E receptor 3 (subtype EP3)||176806|A||||||3(Ptger3)|| 1.136|6|16|95|1p31.1|PTGFR|P|Prostaglandin F receptor (FP)||600563|A||||||3(Ptgfr)|| 1.137|8|21|91|1p31|ACADM, MCAD|P|Acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain||201450|REa,A|||Acyl-CoA dehydrogenase, medium chain, deficiency of (3)|||3(Acadm)|| 1.138|5|9|95|1p31|AMPK|P|AMP-activated protein kinase||600497|Psh, A|||||||| 1.139|6|20|91|1p31|DBT, BCATE2|C|Dihydrolipoamide branched chain transacylase (E2 component of|branched chain keto acid dehydrogenase complex)|248610|REa, A|pseudogene on 3q24||Maple syrup urine disease, type II (3)||||| 1.140|12|6|95|1p31|IER1, IR20|P|Immediate early response 1, B-cell specific (1R20)||600323|A|||||||| 1.141|9|28|96|1p31|LEPR, OBR|P|Leptin receptor||601007|H, REc, R, Fd||||||4(Lepr)|| 1.142|10|9|94|1p31|PDE4B, DPDE4|C|Phosphodiesterase, 4B, cAMP-specific (dunce (Drosophila)-homolog|phosphodiesterase E4)|600127|RE, A||||||4(Pde4b)|| 1.143|5|22|91|1p31|PGM1|C|Phosphoglucomutase-1||171900|F, S, R|distal to ACADM; formerly 1p22.1|||||4(Pgm2)|| 1.144|5|2|94|1p31|RPE65|C|Retinal pigment epithelium-specific protein (65kD)||180069|REa, A||||||3(Rpe65)|| 1.145|11|28|94|1p31|SLC2A5, GLUT5|P|Solute carrier family 2 (facilitated glucose transporter), member 5||138230|REa, A|||||||| 1.146|1|11|95|1p31-p22|CRYZ|P|Crystallin, zeta (quinone reductase)||123691|REa, A|||||||| 1.147|9|22|96|1p31-p22|RABGGTB|P|Rab geranylgeranyltransferase, beta subunit||179080|REa, A||||||3(Rabggtb)|| 1.148|11|13|96|1p22.1|DR1|P|Down-regulator of transcription 1, TBP-binding (negative cofactor 2)||601482|A|||||||| 1.149|11|2|95|1p22.1-qter|SDH1|P|Succinate dehydrogenase 1, iron sulphur (Ip) subunit||185470|S|1 of 2 polypeptides||?Myopathy due to succinate dehydrogenase deficiency (1)||||| 1.150|12|5|95|1p22|CTB|P|Chitobiase, di-N-acetyl-||600873|Psh, A|||||||| 1.151|1|1|96|1p22|GFI1, ZNF163|P|Growth factor independent 1||600871|REa, A||||||5(Gfi1)|| 1.152|12|5|95|1p22|GNG5|P|Guanine nucleotide binding protein (G protein), gamma 5||600874|Psh, A|||||||| 1.153|8|29|91|1p22|D1S155E, UNR|P|NRAS-related gene||191510|REn|130bp 5' to NRAS||||||| 1.154|6|9|95|1p22|DPYD, DPD|C|Dihydropyrimidine dehydrogenase||274270|REa, A|||Thymine-uraciluria (1); {Fluorouracil toxicity, sensitivity to} (1)||||| 1.155|1|4|93|1p22|UOX|P|Urate oxidase||191540|REa, A|nonsense mutations responsible for absence of enzyme in man and|hominoid primates|Urate oxidase deficiency (1)||||| 1.156|10|7|88|1p22-p21|F3, TFA|C|Coagulation factor III||134390|S, REb, Fd, A|||||||| 1.157|12|30|92|1p22-p21|PXMP1, PMP70|P|Peroxisomal membrane protein-1 (70kD)||170995|REa, A|||Zellweger syndrome-2 (3)|||3(Pmp70)|| 1.158|9|2|96|1p21|AGL, GDE|C|Amylo-1,6-glucosidase, 4-alpha-glucanotransferase (glycogen|debranching enzyme)|232400|REc, A|||Glycogen storage disease IIIa (1); Glycogen storage disease IIIb (3)||||Yang (1992); Yang-Feng (1992)| 1.159|10|23|87|1p21|AMY1A|C|Amylase, salivary, alpha-1A||104700|F, A, REa|multiple amylase genes|||||3(Amy1)|| 1.160|10|31|91|1p21|AMY1B|C|Amylase, salivary, alpha-1B||104701|REn|||||||| 1.161|11|4|91|1p21|AMY1C|C|Amylase, salivary, alpha-1C||104702|REn|||||||| 1.162|9|14|88|1p21|AMY2A|C|Amylase, pancreatic, alpha-2A||104650|F, A, REa||||||3(Amy2)|| 1.163|6|4|90|1p21|AMY2B|C|Amylase, pancreatic, alpha-2B||104660|F, A, REa, Fd|distal to NGFB||||||| 1.164|8|21|92|1p21|CHRNB2|P|Cholinergic receptor, nicotinic, beta polypeptide-2||118507|REa, H|linked to AMY in mouse|||||3(Acrb2)|| 1.165|12|20|96|1p21|COL11A1|P|Collagen XI, alpha-1 polypeptide||120280|REb, A|||Stickler syndrome, type III (3)|||3(Col11a1)|| 1.166|9|29|96|1p21|GLCLR|C|Glutamate-cysteine ligase (gamma-glutamylcysteine synthetase),|regulatory (30.8kD)|601176|REa, A||||||3(Glclr)|| 1.167|11|4|93|1p21-p13.3|CD53, MOX44|C|CD53 antigen||151525|REa, A||||||3(Cd53)|| 1.168|1|9|95|1p21-p13.3|KCNA3|C|Potassium voltage-gated channel, shaker-related subfamily, member 3||176263|REa, A|mapped probably in error to chr.13||||||| 1.169|3|3|97|1p21-p13|ABCR, STGD1, FFM|C|ATP-binding transporter, retina-specific||601691|R, REc, Rd|||Stargardt disease-1, 248200 (3); Fundus flavimaculatus with macular|dystrophy, 248200 (3)|||| 1.170|5|9|95|1p21-p13|ADORA3|C|Adenosine A3 receptor||600445|Fd, REn, H||||||3(Adora3)|| 1.171|6|22|94|1p21-p13|ARH9, RHOH9|P|Aplysia RAS-related homolog 9 (oncogene RHO H9)||165380|REa, A|incorrectly assigned to chr.5||||||| 1.172|7|5|90|1p21-p13|AMPD1|P|Adenosine monophosphate deaminase-1 (muscle)||102770|REa, A|||Myoadenylate deaminase deficiency (3)|||3(Ampd1)|| 1.173|12|16|93|1p21-p13|AMPD2|P|Adenosine monophosphate deaminase-2 (liver)||102771|H, REa|coamplified with AMPD1 in cancer cell line|||||3(Ampd2)|| 1.174|4|18|92|1p21-p13|CSF1, MCSF|C|Colony-stimulating factor-1 (macrophage)||120420|A, REa, H|incorrectly assigned to chr.5||?Osteopetrosis, 259700 (1)|||3(Csfm)|| 1.175|3|31|97|1p21-p13|RP19|P|Retinitis pigmentosa-19||601718|Fd|||Retinitis pigmentosa-19 (2)||||| 1.176|11|22|94|1p21-p13.3|WS2B|P|Waardenburg syndrome, type 2B||600193|Fd|||||||| 1.177|9|12|93|1p13.3|GSTM1|C|Glutathione S-transferase M1||138350|A, REa, Fd, Psh, REn|||||||| 1.178|9|12|93|1p13.3|GSTM2, GST4|C|Glutathione S-transferase M2 (muscle)||138380|Psh, A, REn|||||||| 1.179|9|12|93|1p13.3|GSTM3, GST5|P|Glutathione S-transferase M3 (brain)||138390|Psh, A, REn|||||||| 1.180|11|4|93|1p13.3|GSTM4|C|Glutathione S-transferase M4||138333|A, REn, Psh|||||||| 1.181|11|4|93|1p13.3|GSTM5|P|Glutathione S-transferase M5||138385|Psh, A, REn|||||||| 1.182|7|10|93|1p13.3|RAP1A, KREV1|C|RAS-related protein RAP1A||179520|A|pseudogene on 14q24.3||||||| 1.183|9|12|93|1p13.3-p11|CASQ2|P|Calsequestrin, fast-twitch, skeletal muscle-2||114251|A|||||||| 1.184|11|20|95|1p13.2|NRAS|C|Neuroblastoma RAS viral (v-ras) oncogene homolog||164790|REa, A|cen-CD2-NGFB-NRAS|||||3(Nras)|| 1.185|7|26|95|1p13.2-p12|SLC16A1, MCT1|P|Solute carrier family 16 (monocarboxylic acid transporters),|member 1|600682|Psh, A|||||||| 1.186|11|20|95|1p13.1|CD2|C|CD2 antigen (p50), sheep red blood cell receptor||186990|REa, A, RE||||||3(Ly37)|| 1.187|4|30|93|1p13.1|HSD3B1|C|Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid|delta-isomerase, type 1 (placental, peripheral)|109715|Fd, A||||||3(Hsd3b1)|| 1.188|10|21|92|1p13.1|HSD3B2|C|Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid|delta-isomerase, type 2 (adrenal, gonadal)|201810|A|||3-beta-hydroxysteroid dehydrogenase, type II, deficiency (3)|||3(Hsd3b2)|Lachance (1991); Rheaume (1992)| 1.189|11|20|95|1p13.1|NGFB|C|Nerve growth factor, beta||162030|REa, H, A, Fd, RE|same 310kb fragment as TSHB;|order: cen-CD2-CD58-ATP1A1-NGF-TSHB-NRAS-tel||||3(Ngfb)|| 1.190|10|12|90|1p13|CD58, LFA3|C|CD58 antigen (lymphocyte function-associated antigen 3)||153420|S, REa, A, RE|?same as MSK1; gene cloned||||||| 1.191|5|18|92|1p13|GNAI3|C|Guanine nucleotide-binding protein (G-protein), alpha-inhibiting|activity polypeptide-3|139370|REa, A||||||3(Gnai3)|| 1.192|5|18|92|1p13|GNAT2|C|Guanine nucleotide-binding protein (G-protein), alpha-transducing|(transducin) activity polypeptide-2|139340|REa, A||||||3(Gnat2)|| 1.193|3|21|93|1p13|LGALS3|P|Lectin, galactose-binding, soluble 3||137033|A|||||||| 1.194|10|4|91|1p13|TSHB|C|Thyroid-stimulating hormone, beta polypeptide||188540|REa, RE, Fd|centromeric to NGFB||Hypothyroidism, nongoitrous (3)|||3(Tshb)|| 1.195|1|1|95|1p13-p12|HMGCS2|P|3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2||600234|A|||||||| 1.196|4|12|92|1p13-p11|ATP1A1|C|ATPase, Na+K+ transporting, alpha-1 polypeptide||182310|REa, REb, A, Fd||||||3(Atp1a1)|| 1.197|1|11|95|1p13-p11|NOTCH2|P|Notch (Drosophila) homolog 2||600275|REa, A|||||||| 1.198|9|22|96|1p13-q23|RP18|P|Retinitis pigmentosa-18||601414|Fd|||Retinitis pigmentosa-18 (2)||||| 1.199|1|6|97|1p12|FCGR1B|P|Fc fragment of IgG, high affinity Ib, receptor for (CD64)||601502|REa, A|||||||| 1.200|1|9|95|1p12-p11|NHLH2, HEN2|P|Nescient helix loop helix 2||162361|REa, A||||||3(Nscl2)|| 1.201|11|12|96|1p11-q11|CMD1A, CDCD1|P|Cardiomyopathy, dilated1A (autosomal dominant)||115200|Fd|?mutation in GJA5; same as 108770||Cardiomyopathy, familial dilated, with conduction defect, 1 (2)||||| 1.202|11|13|94|1p11-qter|EPHX1|P|Epoxide hydroxylase 1, microsomal (xenobiotic)||132810|REa|||?Fetal hydantoin syndrome (1); Diphenylhydantoin toxicity (1)|||1(Eph1)|| 1.203|8|8|91|1p|GABRD|P|Gamma-aminobutyric acid (GABA) A receptor, delta||137163|REa|||||||| 1.204|1|24|93|1p|PCHC|P|Pheochromocytoma||171300|D|||Pheochromocytoma (2)||||| 1.205|1|2|91|1cen-q12|ADSS|P|Adenylosuccinate synthetase (Ade(-)H-complementing)||103060|S||||||13(Nid)|| 1.206|1|21|97|1q|CSE|P|Choreoathetosis/spasticity, episodic (paroxysmal|choreoathetosis/spasticity)|601042|Fd|||Choreoathetosis/spasticity, episodic (2)||||| 1.207|5|31|94|1q|FMO4, FMO2|P|Flavin-containing monooxygenase 2 (adult liver)||136131|Psh|probably cluster of FMO genes at 1q23-q25||[Fish-odor syndrome] (1)||||| 1.208|11|14|91|1q|HSPA6|P|Heat shock 70kD protein-6 (HSP70B')||140555|REa|||||||| 1.209|11|14|91|1q|HSPA7|P|Heat shock 70kD protein-7 (HSP70B)||140556|REa|||||||| 1.210|3|17|94|1q|PMX, PHOX1|L|Paired mesodermal homeobox||167420|H||||||1(Pmx)|| 1.211|5|9|95|1q|SYT2|L|Synaptotagmin-2||600104|H|?near REN|||||1(Syt2)|| 1.212|11|5|95|1q12-q21|GJA8, CX50|P|Gap junction membrane channel protein alpha-8 (connexin 50)||600897|A|?mutated in CAE1|||||3(Gja8)|| 1.213|6|3|94|1q12-q21|S100A8, CAGA, CFAG|P|S100 calcium-binding protein A8 (calgranulin A)||123885|S, REa|probable cluster with CAGRB, CACY, CAPL|||||3(Caga)|| 1.214|6|3|94|1q12-q22|S100A9, CAGB, CFAG|P|S100 calcium-binding protein A9 (calgranulin B)||123886|REa||||||3(Cagb)|| 1.215|9|13|89|1q12-q22|TRNL|P|tRNA asparagine-like||189890|REa, RE|||||||| 1.216|9|12|93|1q12-q23|DPT|P|Dermatopontin||125597|REa|||||||| 1.217|11|9|95|1q12-q23|MEF2D|P|MADS box transcription enhancer factor 2, polypeptide D (myocyte|enhancer factor 2D)|600663|REc||||||3(Mef2d)|| 1.218|11|22|94|1q12-qter|IFI16|P|Interferon, gamma-inducible protein 16||147568|REa|||||||| 1.219|2|6|94|1q12-qter|NTRKR3|P|Tyrosine kinase receptor related to neurotrophic TRK||191311|Psh|||||||| 1.220|7|5|90|1q12-qter|TNNI1|P|Troponin-I, skeletal, slow||191042|REa||||||1(Tnni1)|| 1.221|1|7|93|1q2|CAE1|C|Cataract, zonular pulverulent-1 (FY-linked)||116200|F|close to FY||Cataract, zonular pulverulent-1 (2)||||| 1.222|10|23|87|1q21|A12M3|P|Adenovirus-12 chromosome modification site-1q2||102940|V|||||||| 1.223|10|4|93|1q21|ARNT|C|Aryl hydrocarbon receptor nuclear translocator||126110|REa, Fd, A||||||3(Arnt)|| 1.224|9|12|93|1q21|CASQ1|C|Calsequestrin, fast-twitch, skeletal muscle-1||114250|REa, A|||||||| 1.225|9|2|96|1q21|CTSK|P|Cathepsin K||601105|REn, Fd|||Pycnodysostosis, 265800 (3)||||| 1.226|6|3|94|1q21|CTSS|P|Cathepsin S||116845|A|||||||| 1.227|1|6|97|1q21|FCGR1C|P|Fc fragment of IgG, high affinity Ic, receptor for (CD64)||601503|REa, A|||||||| 1.228|11|4|93|1q21|FLG|C|Filaggrin||135940|REa, A, REn|||?Ichthyosis vulgaris, 146700 (1)|||3(flg)|| 1.229|3|27|89|1q21|GBA|C|Glucosidase, beta; acid||230800|S, A, D|||Gaucher disease (3)|||3(Gba)|| 1.230|9|13|89|1q21|H1F2|P|H1 histone, family 2||142710|REa, A||||||13(Hist1)|| 1.231|9|13|89|1q21|H3F2|P|H3 histone, family 2||142780|REa, A|||||||| 1.232|9|13|89|1q21|H4F2|P|H4 histone, family 2||142750|REa, A|100-200 histone genes; some on chromosome 6 and 12, as well as|perhaps 7|||||| 1.233|11|4|93|1q21|IL6R|C|Interleukin-6 receptor||147880|REa, A|IL6R-like gene on chr.9||||||| 1.234|11|4|93|1q21|IVL|C|Involucrin||147360|REa, A, REn|||||||| 1.235|9|9|96|1q21|LOR|C|Loricrin||152445|REa, A, REn|||Vohwinkel syndrome, 124500 (3)|||3(lor)|| 1.236|7|4|95|1q21|MCL1|P|Myeloid cell leukemia sequence 1 (BCL2-related)||159552|REa, A||||||3(Mcl1)|| 1.237|4|9|96|1q21|MCSP|P|Mitochondrial capsule selenoprotein||601148|A|||||||| 1.238|7|4|95|1q21|MTXN|L|Metaxin||600605|H|between GBA and TSP3|||||3(Mtxn)|| 1.239|6|4|89|1q21|MUC1, PUM|C|Mucin 1, transmembrane||158340|REa, A, Fd|5cM proximal to SPTA1|||||3(Muc1)|| 1.240|9|14|88|1q21|PKLR, PK1|C|Pyruvate kinase, liver and RBC type||266200|REa, A|||Anemia, hemolytic, due to PK deficiency (3)|||3(Pk1)|| 1.241|10|21|92|1q21|RBP6, CRABP2|P|Retinoic acid-binding protein-6||180231|A, REc|||||||| 1.242|10|21|96|1q21|PRCC, RCCP1|P|Papillary renal cell carcinoma (translocation-associated)||179755|Ch|t(X;1)(p11;q21); fused to TFE3||Renal cell carcinoma, papillary, 1 (2)||||| 1.243|11|17|94|1q21|S100A1|C|S100 protein, alpha polypeptide||176940|REb, A, REn|||||||| 1.244|11|17|94|1q21|S100A2, S100L|P|S100 calcium-binding protein A2||176993|REn|||||||| 1.245|11|17|94|1q21|S100A3, S100E|P|S100 calcium-binding protein A3||176992|REn|||||||| 1.246|11|17|94|1q21|S100A4, CAPL|P|S100 calcium-binding protein A4 (calcium protein, calvasculin,|metastasin, murine placental homolog)|114210|REa, H, REn||||||3(Capl)|| 1.247|11|17|94|1q21|S100A5, S100D|P|S100 calcium-binding protein A5||176991|REn, A|||||||| 1.248|11|17|94|1q21|S100A6, CACY|C|S100 calcium-binding protein A6 (calcyclin)||114110|A, REn||||||3(Cacy)|| 1.249|2|9|95|1q21|S100A7|C|S100 calcium-binding protein A7||600353|REc, A, Fd|||||||| 1.250|7|11|94|1q21|S100A10, CAL1L|C|S100 calcium-binding protein A10 (annexin II ligand, calpactin I,|light polypeptide (p11))|114085|H, REn|on chr.3 in mouse||||||| 1.251|6|16|95|1q21|SHC1|C|SHC (Src homology 2 domain-containing) transforming protein-1||600560|REa, A|||||||| 1.252|7|5|90|1q21|SPTA1|C|Spectrin, alpha, erythrocytic-1||182860|REa, A, Fd|17cM proximal to FY||Elliptocytosis-2 (3); Pyropoikilocytosis (3); Spherocytosis,|recessive (3)||1(Spna1)|| 1.253|7|4|95|1q21|THBS3, TSP3|L|Thrombospondin 3||188062|H|||||||| 1.254|7|4|95|1q21|YL1|P|Transformation suppressor YL1||600607|RE|||||||| 1.255|12|2|96|1q21-q22|EPLG1, TNFAIP4|P|eph-related receptor tyrosine kinase ligand 1 (tumor necrosis factor,|alpha-induced protein 4)|191164|A||||||3(Epl1)|| 1.256|12|2|96|1q21-q22|EPLG3|P|eph-related receptor tyrosine kinase ligand 3||601381|A||||||3(Epl3)|| 1.257|12|2|96|1q21-q22|EPLG4|P|eph-related receptor tyrosine kinase ligand 4||601380|A||||||3(Epl4)|| 1.258|1|9|94|1q21-q22|FY, GPD|C|Duffy blood group||110700|F, Fc, Fd, A|by A, 1q22-q23||{Vivax malaria, susceptibility to} (1)||||| 1.259|4|18|94|1q21-q22|NPR1, ANPRA|P|Natriuretic peptide receptor A/guanylate cyclase A||108960|REa, A|||||||| 1.260|9|2|96|1q21-q22|NTRK1, TRKA|C|Neurotrophic tyrosine kinase, receptor type 1||191315|REa, A|TRK = chimera of TPM3 and NTRK1||Insensitivity to pain, congenital, with anhidrosis, 256800 (3)||||| 1.261|7|10|93|1q21-q22|SPRR1A|P|Small proline-rich protein 1A||182265|REa, A, REn|||||||| 1.262|7|10|93|1q21-q22|SPRR1B|P|Small proline-rich protein 1B||182266|REa, A|||||||| 1.263|7|10|93|1q21-q22|SPRR2A|P|Small proline-rich protein 2A||182267|REa, A, REn|about 7 SPRR2 genes||||||| 1.264|7|10|93|1q21-q22|SPRR2B|P|Small proline-rich protein 2B||182268|REa, A|||||||| 1.265|7|10|93|1q21-q22|SPRR2C|P|Small proline-rich protein 2C||182269|REa, A|prob. pseudogene||||||| 1.266|7|10|93|1q21-q22|SPRR3|P|Small proline-rich protein 3||182271|REa, A, REn|||||||| 1.267|5|1|91|1q21-q22|UGP1|C|Uridyl diphosphate glucose pyrophosphorylase-1||191750|S, R|||||||| 1.268|4|30|91|1q21-q23|APCS, SAP|C|Amyloid P component, serum||104770|REa, A, Fd|probably close to CRP||{?Amyloidosis, secondary, susceptibility to} (1)|||1(Sap)|| 1.269|4|30|91|1q21-q23|APOA2|C|Apolipoprotein A-II||107670|REa, A, Fd, RE||||||1(Apoa2)|| 1.270|4|12|92|1q21-q23|ATP1A2|C|ATPase, Na+K+ transporting, alpha-2 polypeptide||182340|REa, A, Fd, RE||||||1(Atpa3)|| 1.271|3|21|93|1q21-q23|CD1A|C|Thymocyte antigen CD1A||188370|A, REa, REn|genes A, B, C, D in cluster|||||3(Ly38)|| 1.272|3|21|93|1q21-q23|CD1B|C|Thymocyte antigen CD1B||188360|A, REa, REn|||||||| 1.273|3|21|93|1q21-q23|CD1C|C|Thymocyte antigen CD1C||188340|A, REa, REn|||||||| 1.274|3|21|93|1q21-q23|CD1D|C|Thymocyte antigen CD1D||188410|A, REa, H, REn||||||3(Cd1d)|| 1.275|10|9|94|1q21-q23|CD1E|C|Thymocyte antigen CD1E||188411|A, REa, REn|||||||| 1.276|5|1|91|1q21-q23|CRP|C|C-reactive protein||123260|REa, A||||||1(Crp)|| 1.277|9|22|96|1q21-q23|DFNA7|P|Deafness, autosomal dominant 7||601412|Fd|||Deafness, autosomal dominant 7 (2)||||| 1.278|1|27|97|1q21-q23|FCGR2B, IGFR2, CD32|C|Fc fragment of IgG, low affinity II, receptor for (CD32)||146790|REb, REn, Fd, RE|FCG2 and FCG3 within 250kb||{Lupus nephritis, susceptibility to} (3)|||1(Ly17, Cd32)|| 1.279|11|9|95|1q21-q23|GIRK3|P|G-protein-coupled inward rectifier potassium channel||600932|A|||||||| 1.280|12|5|95|1q21-q23|ETV3, PE1|P|Ets variant gene 3||164873|REa, A|||||||| 1.281|12|5|95|1q21-q23|SSR2|P|Signal sequence receptor, beta||600867|A|||||||| 1.282|1|1|95|1q21-q25|LTN|P|Lymphotactin||600250|H|||||||| 1.283|11|7|95|1q21-q31|HRPT2|P|Hyperparathyroidism 2 (with jaw tumor)||145001|Fd|||Hyperparathyroidism-jaw tumor syndrome (2)||||| 1.284|2|3|97|1q21-q31|TIGR, GLC1A, JOAG, GPOA|C|Trabecular meshwork-induced glucocorticoid response protein||601652|REc, R, Fd|||Glaucoma, primary open angle, juvenile-onset, 137750 (3)||||| 1.285|10|9|94|1q21-q31|TUFT1|P|Tuftelin 1||600087|A|?mutant in amelogenesis imperfecta||||||| 1.286|2|16|96|1q21.1-q21.2|ADAR, DRADA|P|Adenosine deaminase, RNA-specific||601059|A|||||||| 1.287|7|4|95|1q21.2-q21.3|FCGR1A, IGFR1, CD64|C|Fc fragment of IgG, high affinity Ia, receptor for (CD64)||146760|REa, H, A|||[IgG receptor I, phagocytic, familial deficiency of] (1)|||3(Fcgr1)|| 1.288|4|23|96|1q21.2-q21.3|LMNA, LMN1|P|Lamin A/C||150330|A|||||||| 1.289|2|9|92|1q21.2-q22|HSPCAL1|P|Heat shock 90kD protein, alpha-like 1||140571|REa, A|?functional; others on 4q35, 11p14.2-p14.1, 14q32.3||||||| 1.290|3|21|93|1q21.3|THL|C|Trichohyalin||190370|A, RE|cluster = FLG, IVL, LOR, THL||||||| 1.291|3|21|93|1q21.3-q22|CD48, BCM1, BLAST1|C|CD48 antigen (B-cell membrane protein)||109530|REa, A, REn||||||1(Bcm1)|| 1.292|9|11|95|1q21.3-q22|LY9|P|T-lymphocyte surface antigen Ly-9||600684|REn|within 410kb of CD48|||||1(Ly9)|| 1.293|3|3|95|1q22|IFI16|P|Interferon, gamma-inducible protein 16||147586|REa, A|||||||| 1.294|3|3|95|1q22|MNDA|P|Myeloid cell nuclear differentiation antigen||159553|REa, REn|||||||| 1.295|12|16|93|1q22|MPZ, CMT1B|C|Myelin protein zero||159440|REb, A, F, Fd, D|||Charcot-Marie-Tooth neuropathy, slow nerve conduction type Ib,|118200 (3); Dejerine-Sottas disease, myelin P(0)-related, 145900 (3)||1(Mpp)|| 1.296|7|12|94|1q22|NHLH1, HEN1|P|Nescient helix loop helix 1||162360|H, REa, A|closely linked to Sap in mouse|||||1(Nscl)|| 1.297|9|12|96|1q22|PPOX|P|Protoporphyrinogen oxidase||600923|A|||Porphyria variegata, 176200 (3)||||| 1.298|1|10|96|1q22-q23|CD3Z, TCRZ|C|CD3Z antigen, zeta polypeptide (TiT3 complex)||186780|REa, A, REn|||CD3, zeta chain, deficiency (1)|||1(T3z, Cd3z)|| 1.299|1|11|95|1q22-q23|LMX1|P|LIM homeobox transcription factor 1||600298|A|||||||| 1.300|5|9|95|1q22-q23|OTF1, OCT1|C|Octamer-binding transcription factor-1||164175|REa, REn, A||||||1(Otf1)|| 1.301|5|2|94|1q22-q23|RXRG|P|Retinoid X receptor, gamma||180247|H, A||||||1(Rxrg)|| 1.302|5|9|95|1q22-q23|TPM3, NEM1|C|Tropomyosin 3 (nonmuscle)||191030|REa, A|TRK = chimera of TPM3 and NTRK1; NEM1 to 1q21-q23 by Fd||Nemaline myopathy-1, 161800 (3)|||1(Tpm3)|| 1.303|11|4|93|1q22-q23|USF1|P|Upstream stimulatory factor-1||191523|REa, A||||||1(Usf1)|| 1.304|9|14|88|1q22-q24|SKI|P|Avian sarcoma viral (v-ski) oncogene homolog||164780|REa, A|||||||| 1.305|3|21|93|1q22-q25|ATP1B1|C|ATPase, Na+K+ transporting, beta-1 polypeptide||182330|REa, A, REn||||||1(Atp1b1)|| 1.306|1|23|90|1q23|D1S111, MS336|P|Minisatellite 33.6||157560|REa, A|||||||| 1.307|3|17|94|1q23|F5|C|Coagulation factor V (proaccelerin, labile factor)||227400|REa, A, Fd, REn|Order: F5-GRMP-LYAM1-ELAM1 in 300kb segment||Factor V deficiency (1); Protein C cofactor deficiency (3)|||1(Cf5)|| 1.308|7|10|91|1q23|FCER1A|C|Fc IgE receptor, alpha polypeptide||147140|REa, A||||||1(Fcer1a)|| 1.309|8|11|91|1q23|FCER1G|P|Fc fragment of IgE, high affinity I, receptor for, gamma polypeptide||147139|H, A|probably on 1q close to CD32|||||1(Fcer1a)|| 1.310|8|20|91|1q23|FCGR3A, CD16, IGFR3|C|Fc fragment of IgG, low affinity III, receptor for (CD16)||146740|REb, REn|FCGR2A and FCGR3A within 250kb; ?same as neutrophil-specific|antigen|Lupus erythematosus, systemic, 152700 (1); Neutropenia,|immune (2)|||| 1.311|2|20|97|1q23|GLUL, GLNS|P|Glutamate-ammonia ligase (glutamine synthase)||138290|Psh, A, REc|pseudogene on chr.9||||||| 1.312|2|9|92|1q23|PBX1|C|Pre-B cell leukemia transcription factor-1||176310|Ch, A|t(1;19)||Leukemia, acute pre-B-cell (2)|||1(Pbx)|| 1.313|10|9|94|1q23|TRIC5|P|TCP1 (t-complex-1) ring complex, polypeptide 5||600114|A||||||3(Tric5)|| 1.314|8|9|94|1q23-q24|TRK|C|Oncogene TRK||164970|REa, A|chimera of TPM3 and NTKR1; others put in 1q32-q41||||||| 1.315|2|9|92|1q23-q25|AT3|C|Antithrombin III||107300|F, D, A, REa, Fd|~17cM distal to FY||Antithrombin III deficiency (3)|||1(At3)|| 1.316|4|30|93|1q23-q25|FMO1|P|Flavin-containing monooxygenase 1 (fetal liver)||136130|Psh, A|||||||| 1.317|1|1|95|1q23-q25|SELE, ELAM1|C|Selectin E (endothelial leukocyte adhesion molecule-1)||131210|REn|||{Atherosclerosis, susceptibility to} (2)|||1(Elam)|| 1.318|12|3|96|1q24-q25|^HPC1|P|Prostate cancer, hereditary, 1||601518|Fd|||Prostate cancer, hereditary, 1 (1)||||| 1.319|1|9|94|1q23-q25|SELL, LYAM1, LAM1, LNHR|C|Selectin L (lymphocyte adhesion molecule 1)||153240|A, REn||||||1(Lnhr)|| 1.320|3|21|93|1q23-q25|SELP, GRMP|C|Selectin P (granulocyte membrane protein, 140kD; antigen CD62)||173610|REn, A|in same 300kb segment as LYAM1, ELAM1||Platelet alpha/delta storage pool deficiency (1)|||1(Grmp)|| 1.321|2|4|92|1q24-q25|ABL2, ABLL, ARG|P|Abelson murine leukemia viral (v-abl) oncogene homolog 2 (arg,|Abelson-related gene)|164690|REa, A||||||1(Abll)|| 1.322|1|1|95|1q24-q31|FDPSL1, CHR39A|P|Farnesyl diphosphate synthase-like 1 (farnesyl pyrophosphate|synthetase-like 1, cholesterol-repressible protein 39A)|134631|REa|||||||| 1.323|10|20|92|1q24-q32|CSRP|P|Cystein-rich protein||123876|REa, A||||||1(Csrp)|| 1.324|11|7|95|1q25|ASTT|P|Astrotactin||600904|A||||||1(Astt)|| 1.325|1|7|93|1q25|NCF2|C|Neutrophil cytosolic factor-2 (65kD)||233710|REa, A|||Chronic granulomatous disease due to deficiency of NCF-2 (1)|||1(Ncf2)|| 1.326|6|16|95|1q25|PLA2G4|P|Phospholipase A2, group IV||600522|A|||||||| 1.327|7|1|94|1q25|RNS4|P|Ribonuclease 4 (2',5'-oligoisoadenylate synthetase-dependent)||180435|A|||||||| 1.328|3|12|96|1q25|SOAT, STAT, ACAT|P|Sterol O-acyltransferase (acyl-Coenzyme A: cholesterol|acyltransferase)|102642|A, REa|||||||| 1.329|1|1|95|1q25|TPR|C|Tumor potentiating region (translocated promoter region)||189940|REa, A|fused with MET in chemically induced tumor||||||| 1.330|3|8|91|1q25-q31|BGLAP|P|Bone gamma-carboxyglutamic acid protein||112260|REa, REb||||||3(Bglap)|| 1.331|2|18|96|1q25-q31|CACL1A6|P|Calcium channel, L type, alpha 1 polypeptide, isoform 6||601013|A|||||||| 1.332|6|1|94|1q25-q31|LAMC2, LAMNB2, LAMB2T|C|Laminin, gamma 2 (nicein (100kD), (kalinin (105kD), BM600 (100kD))||150292|A, Fd|||Epidermolysis bullosa, Herlitz junctional type, 226700 (3)||||| 1.333|1|23|96|1q25-q31|SRN1|P|Nephrotic syndrome, idiopathic, steroid-resistant||600995|Fd|||Nephrotic syndrome, idiopathic, steroid-resistant (2)||||| 1.334|12|16|93|1q25-q31.1|PDC|C|Phosducin, pineal gland||171490|H, REa, A||||||1(Pdc)|| 1.335|7|10|92|1q25-q32|ATP2B4, ATP2B2, PMCA4|P|ATPase, Ca++ transporting, plasma membrane, 4||108732|REa, A, Fd|||||||| 1.336|1|1|95|1q25.2-q25.3|PTGS2|P|Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and|cyclooxygenase)|600262|REa, A|||||||| 1.337|9|22|95|1q25.3|MR1|P|MHC-related protein-1||600764|A|||||||| 1.338|1|24|93|1q31|CTSE|C|Cathepsin E||116890|REa, A, Fd|closely linked to REN||||||| 1.339|11|8|94|1q31|EBR2A|P|Epidermolysis bullosa 2A, junctional Herlitz||226450|Fd, LD|?mutation in LAMC1 or LAMC2||Epidermolysis bullosa inversa, junctional (2)||||| 1.340|10|29|96|1q31|RGS2, G0S8|P|G0 to G1 switch regulatory 8, 24kD||600861|A|||||||| 1.341|6|1|94|1q31|LAMC1, LAMB2|C|Laminin, gamma 1 (formerly LAMB2)||150290|REa, Fd|at least 3 genes, ?linked|||||1(Lamb2)|| 1.342|8|12|91|1q31|PFKB2|P|Fructose-2,6-bisphosphatase, cardiac isozyme||171835|REa, A|||||||| 1.343|11|27|94|1q31|SSA2|C|Sjogren syndrome antigen A2 (60kD, ribonucleoprotein autoantigen|SS-A/Ro)|600063|A|||||||| 1.344|10|9|94|1q31-q32|PCTK3|P|PCTAIRE protein kinase 3||169190|A|||||||| 1.345|2|25|92|1q31-q32|PTPRC, CD45, LCA|C|Protein tyrosine phosphatase, receptor-type, c polypeptide||151460|A, S||||||1(Ly5)|| 1.346|3|21|93|1q31-q32.1|F13B|C|Coagulation factor XIII, B polypeptide||134580|Fd, A, RE|||Factor XIIIB deficiency (3)|||1(F13b)|| 1.347|11|5|95|1q31-q32.1|FHR2|P|Factor H-related gene 2||600889|REc|in same 165kb YAC as F13B||||||| 1.348|10|9|94|1q31-q32.1|RP12|P|Retinitis pigmentosa-12 (autosomal recessive)||600105|Fd|||Retinitis pigmentosa-12, autosomal recessive (2)||||| 1.349|12|3|90|1q31-q41|MYOG, MYF4|C|Myogenic factor-4; myogenin||159980|REa, A||||||1(Myog)|| 1.350|9|21|95|1q31-q42|AD4, STM2|P|Alzheimer disease-4||600759|Psh, REc, REn|||Alzheimer disease-4 (3)||||| 1.351|1|24|93|1q31-q42|PIGR|C|Polymeric immunoglobulin receptor||173880|REa, A, Fd|||||||| 1.352|4|24|96|1q32|AVPR3, AVPR1B|P|Arginine vasopressin receptor 3||600264|A|||||||| 1.353|3|27|89|1q32|RCAC@|C|REGULATOR OF COMPLEMENT ACTIVATION CLUSTER||||MCP, CR1, CR2, DAF, C4BP in 750kb segment; pseudogene C4BPAL1||||||| 1.354|7|9|90|1q32|C4BPA|C|Complement component 4-binding protein, alpha polypeptide||120830|F, REa, A, RE|same RE fragment as C4BPB|||||1(C4bp)|| 1.355|7|9|90|1q32|C4BPB|P|Complement component 4-binding protein, beta polypeptide||120831|RE, A|||||||| 1.356|10|9|94|1q32|CACNL1A3, CCHL1A3|C|Calcium channel, L type, alpha-1 polypeptide, isoform-3 (skeletal|muscle)|114208|H, REa, A, Fd|in mouse, mutation causes muscular dysgenesis||Hypokalemic periodic paralysis, 170400 (3)|||1(Cchl1a3, mdg)|| 1.357|3|11|92|1q32|CD34|C|CD34 antigen||142230|REa, A||||||1(Cd34)|| 1.358|11|12|96|1q32|^CMPD2|P|Cardiomyopathy, dilated-2||601494|Fd|||Cardiomyopathy, dilated-2 (2)||||| 1.359|4|2|90|1q32|CR1, C3BR|C|Complement component (3b/4b) receptor-1||120620|F, REa, A, RE|||CR1 deficiency (1); ?SLE (1)||||| 1.360|4|2|90|1q32|CR2, C3DR|C|Complement component (3d/Epstein-Barr virus) receptor-2||120650|F, REa, A, RE||||||1(Cr2)|| 1.361|10|23|87|1q32|DAF|C|Decay-accelerating factor of complement||125240|REa, A|||||||| 1.362|1|1|95|1q32|ELK4, SAP1|P|ELK4, ETS-domain protein (SRF accessory protein 1)||600246|A||||||1(Elk4)|| 1.363|5|9|95|1q32|HF1, CFH|C|H factor-1 (complement)||134370|F, REa, RE, H|||Factor H deficiency (1); Membroproliferative glomerulonephritis (1)|||1(Cfh)|| 1.364|2|12|96|1q32|LAMB3|P|Laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))||150310|Fd|||Epidermolysis bullosa, Herlitz junctional type, 226700 (3);|Epidermolysis bullosa, generalized atrophic benign, 226650 (3)|||| 1.365|11|4|93|1q32|MCP, CD46|C|Membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive|antigen)|120920|REa, A, REn|||{Susceptibility to measles} (1)||||| 1.366|12|18|95|1q32|RBBP5, RBQ3|P|Retinoblastoma-binding protein-5||600697|Psh, A|||||||| 1.367|3|5|95|1q32|REN|C|Renin||179820|REa, A, D, Fd, Ch|~24cM distal to AT3||[Hyperproreninemia] (3)|||1(Ren1)|| 1.368|3|30|90|1q32|SNRPE|C|Small nuclear ribonucleoprotein polypeptide E||128260|REa, A, F|||||||| 1.369|8|5|96|1q32|TNNT2, CMH2|C|Troponin T2, cardiac||191045|REa, Fd, A|||Cardiomyopathy, familial hypertrophic, 2, 115195 (3)||||| 1.370|6|17|91|1q32|VWS, LPS, PIT|C|van der Woude syndrome (lip pit syndrome)||119300|Ch, Fd|del (1q32-q41); linked to REN||van der Woude syndrome (2)||||| 1.371|1|1|95|1q32-q41|CENPF|P|Centromere autoantigen F (400kD)||600236|A|||||||| 1.372|6|6|94|1q32-q42|EPRS, QPRS, QARS|C|Glutamyl-prolyl-tRNA synthetase||138295|REa, A||||||1(Eprs)|| 1.373|5|18|95|1q32.1|ADORA1, RDC7|P|Adenosine A1 receptor||102775|A|incorrectly assigned to chr.22||||||| 1.374|1|1|95|1q32.1|FMOD|P|Fibromodulin||600245|Psh, A|||||||| 1.375|11|4|93|1q32.1|MYBPH|C|Myosin-binding protein H||160795|A|||||||| 1.376|11|27|94|1q32.1|PTPN7|P|Protein tyrosine phosphatase, non-receptor type 7||176889|A, Ch|||||||| 1.377|1|15|96|1q32.1|TAX, TAX1|C|Transiently-expressed axonal glycoprotein||190197|A|||||||| 1.378|10|23|87|1q32.1-q42|GUK1|C|Guanylate kinase-1||139270|S, D|||||||| 1.379|10|23|87|1q32.1-q42|GUK2|C|Guanylate kinase-2||139280|S, D|genetic independence of GUK1 and GUK2 unproved||||||| 1.380|12|20|96|1q32.2-q32.3|PROX1|P|Homeo box-PROX1||601546|REc||||||(Prox1)|| 1.381|2|9|95|1q41|RMD1|P|Rippling muscle disease 1||600332|Fd|||Rippling muscle disease-1 (2)||||| 1.382|3|21|93|1q41|TGFB2|C|Transforming growth factor, beta-2||190220|REa, A, Fd||||||1(Tgfb2)|| 1.383|3|5|95|1q41|USH2A|C|Usher syndrome 2A (autosomal recessive, mild)||276901|Fd|unlinked = USH2B||Usher syndrome, type 2 (2)||||| 1.384|7|11|95|1q41-q42.1|HLXB9, HOXHB9|P|Homeo box-HB9||142994|A|in 1.0-1.5Mb with HOXHB24||||||| 1.385|3|21|93|1q41-q42.1|HLX1|C|H2.0 (Drosophilia)-like homeo box-1||142995|A, Fd||||||1(Hlx1)|| 1.386|10|16|92|1q41-q43|ITPKB|P|Inositol 1,4,5-trisphosphate 3-kinase B||147522|A|||||||| 1.387|9|9|92|1q41-q44|CHRM3|P|Cholinergic receptor, muscarinic 3||118494|A, REa|||||||| 1.388|1|4|93|1q42|ADPRT, PPOL|C|ADP-ribosyltransferase NAD(+)||173870|REa, A|?processed pseudogenes on chr.13 and 14||?Fanconi anemia (1); ?Xeroderma pigmentosum (1)||||| 1.389|9|12|96|1q42|ARF1|P|ADP-ribosylation factor-1||103180|A|||||||| 1.390|8|8|91|1q42|HRES1|P|HTLV-1 related endogenous sequence||143025|REa, A|||||||| 1.391|6|8|89|1q42|PEPC|C|Peptidase C||170000|S, R, Fd|1q25, 1q32 = conflicting localizations|||||1(Pep3)|| 1.392|10|23|87|1q42-q43|A12M1|P|Adenovirus-12 chromosome modification site-1q1||102930|V|||||||| 1.393|8|21|92|1q42-q43|ACTN2|P|Actinin, alpha-2||102573|REa, A, Fd|||||||| 1.394|6|11|93|1q42-q43|AGT|C|Angiotensinogen||106150|A, REa|||{Hypertension, essential, susceptibility to} (3); {Preeclampsia,|susceptibility to} (3)||8(Agt)|Jeunemaitre (1992)| 1.395|1|23|96|1q42-q43|AVRD2|P|Arrhythmogenic right ventricular dysplasia-2 (arrhythmogenic right|ventricular cardiomyopathy)|600996|Fd|some families not linked to 1q42-q43 or 14q23-q24||Arrhythmogenic right ventricular dysplasia-2 (2)||||| 1.396|10|12|90|1q42-q43|RAB4|P|Oncogene RAB4||179511|A|||||||| 1.397|3|17|94|1q42-qter|CHML|C|Choroideremia-like||118825|REa|||||||| 1.398|7|4|95|1q42.1|ACTA1, ASMA|C|Actin, alpha-1, skeletal muscle||102610|REa, H, A||||||8(Actsk1)|| 1.399|7|5|90|1q42.1|FH|C|Fumarate hydratase||136850|S, R, D, Psh|||Fumarase deficiency (3)||||| 1.400|4|23|96|1q42.1|LBR|P|Lamin B receptor||600024|A|||||||| 1.401|9|12|93|1q42.1-q43|RYR2|C|Ryanodine receptor-2 (cardiac)||180902|REa, A||||||13(Ryr2)|| 1.402|10|15|91|1q42.11-q42.13|RN5S1@|C|RNA, 5S cluster 1||180420|A|25-30% at 1q31 (RN5S3@)||||||| 1.403|1|8|97|1q42.1-q42.2|LYST, CHS|C|Lysosomal trafficking regulator||214500|Fd|||Chediak-Higashi syndrome (3)||||| 1.404|6|8|89|1q43|NID|P|Nidogen||131390|A|||||||| 1.405|10|1|95|1q44|PRIM1|P|Primase polypeptide 1 (49kD)||176635|Psh, A||||||10(Prim1)|| 1.406|3|23|93|1q44|ZNF124|P|Zinc finger protein-124 (HZF-16)||194631|A|||||||| 1.407|5|18|90|Chr.1|CAPN2|P|Calpain, large polypeptide L2||114230|REa, REb|||||||| 1.408|8|6|91|Chr.1|CYMP|P|Chymosin pseudogene||118943|Psh|||||||| 1.409|3|29|95|Chr.1|D1S2223E, HK33|P|Housekeeping gene, 33kD||600279|Psh|||||||| 1.410|11|6|92|Chr.1|EEK|P|eph-, elk-related tyrosine kinase||176945|REa|||||||| 1.411|5|24|90|Chr.1|G1P1|P|Interferon, alpha-inducible protein (clone IFI-4)||146920|REa|||||||| 1.412|11|5|90|Chr.1|G1P2|P|Interferon, alpha-inducible protein (clone IFI-15K)||147571|REa|||||||| 1.413|12|5|95|Chr.1|GBP1|P|Guanylate binding protein 1, interferon-inducible, 67kD||600411|REa||||||3(Gbp1)|| 1.414|11|13|94|Chr.1|HPCA|P|Hippocalcin, 23kD, Ca2+-binding protein||142622|REa|||||||| 1.415|8|30|95|Chr.1|HSD11B1, HSD11, HSD11L|P|Hydroxysteroid (11-beta) dehydrogenase 1||600713|REa, REc|||||||Tannin (1991)| 1.416|8|24|92|Chr.1|IL10|P|Interleukin-10||124092|Psh|||||||| 1.417|2|15|91|Chr.1|INSRR, IRR|P|Insulin receptor-related receptor||147671|REa|||||||| 1.418|10|30|91|Chr.1|KCNC4|P|Potassium voltage-gated channel, Shaw-related subfamily, member 4||176265|REa|||||||| 1.419|6|20|91|Chr.1|MIC10|P|Antigen identified by monoclonal antibody TRA-2-10||116954|S|||||||| 1.420|4|10|90|Chr.1|MTR|P|5-methyltetrahydrofolate:L-homocysteine S-methyltransferase;|tetrahydropteroyl-glutamate methyltransferase|156570|S|||||||| 1.421|2|15|96|Chr.1|OCT|P|OCT transmembrane protein||601054|REa|||||||| 1.422|11|4|93|Chr.1|RNE1|P|RNA, small nucleolar E1||180645|REn|in IVS1 of CHC1||||||| 2.1|3|26|90|2pter-p12|ARH6, RHOH6|P|Aplysia RAS-related homolog 6 (oncogene RHO H6)||165370|REa, A|||||||| 2.2|11|6|94|2p25.3|D2S448, MG50|P|Melanoma associated gene||600134|A|||?Melanoma (1)||||| 2.3|9|28|96|2p25.2-p25.1|YWHAZ|P|Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation|protein, zeta polypeptide|601288|A|||||||| 2.4|7|7|89|2p25|ACP1|C|Acid phosphatase 1, soluble||171500|D, S, A||||||12(Acp1)|| 2.5|1|15|96|2p25|ID2|P|Inhibitor of DNA binding 2, dominant negative||600386|REa, A|||||||| 2.6|10|23|87|2p25|ODC1|C|Ornithine decarboxylase-1||165640|REa, A||||||12(Odc)|| 2.7|2|29|88|2p25|POMC|C|Proopiomelanocortin (adrenocorticotropin/beta-lipotropin)||176830|REa|?close to ACP1||ACTH deficiency (1)|||12(Pomc1)|| 2.8|11|5|95|2p25|SOX11|P|SRY (sex-determining region Y)-box 11||600898|A|||||||| 2.9|7|6|95|2p25|TPO, TPX|C|Thyroid peroxidase||274500|REa, A, Fd|formerly put on 2p13||Thyroid iodine peroxidase deficiency (1); Goiter, congenital (3);|Hypothyroidism, congenital (3)||12(Tpo)|| 2.10|4|10|90|2p25-p24|RRM2|P|Ribonucleotide reductase, M2 polypeptide||180390|REa, A|pseudogenes on 1p, 1q, Xp|||||12(Rrm2)|| 2.11|5|1|91|2p24.1|MYCN, NMYC|C|Oncogene NMYC||164840|REa, A|proximal to APOB|||||12(Nmyc1)|| 2.12|6|29|94|2p24.1|SDC1|C|Syndecan 1||186355|REa, H|close to NMYC in mouse|||||12(Synd1)|| 2.13|2|1|89|2p24|APOB|C|Apolipoprotein B (including Ag(x) antigen)||107730|REa, A|1 gene for liver apo-B100 and gut apo-B48; Ag linked||Hypobetalipoproteinemia (3); Abetalipoproteinemia (3);|Hyperbetalipoproteinemia (3); Apolipoprotein B-100, ligand-defective|(3)|12(Apob)|| 2.14|5|13|96|2p24|DDX1|P|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1||601257||||||||| 2.15|1|11|95|2p24-p22|ADCY3|C|Adenylate cyclase 3||600291|REa, A|||||||| 2.16|11|15|94|2p24-p21|SPG4|C|Spastic paraplegia-4 (autosomal dominant)||182601|Fd|||Spastic paraplegia-4 (2)||||| 2.17|10|18|96|2p23.3-p23.2|GCKR|C|Glucokinase (hexokinase 4) regulatory protein||600842|A, Fd, REc|||||||| 2.18|10|18|96|2p23.3-p23.2|KHK|P|Ketohexokinase (fructokinase)||229800|A, Fd, REc, Psh|||[Fructosuria] (1)||||| 2.19|9|29|96|2p23.3-p23.1|PPIL1|P|Peptidylprolyl isomerase (cyclophilin)-like 1||601301|A|||||||| 2.20|7|6|95|2p23|ALK|C|Anaplastic lymphoma kinase (Ki-1)||105590|Ch, H||||||17(Alk)|| 2.21|10|17|96|2p23|HADHA, MTPA|C|Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/|enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit|600890|A|||LCHAD deficiency (3); Mitochondrial trifunctional protein|deficiency (1)|||| 2.22|10|21|96|2p23|HADHB|P|Hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase|/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit|143450|A|||3-hydroxyacyl-CoA dehydrogenase deficiency (1)||||| 2.23|6|16|95|2p23|PPP1CB|P|Protein phosphatase 1, catalytic subunit, beta isoform||600590|REa, A||||||12(Ppp1cb)|| 2.24|11|22|95|2p23|SRD5A2|C|Steroid-5-alpha-reductase, alpha polypeptide-2 (3-oxo-5 alpha-steroid|delta 4-dehydrogenase alpha-2)|264600|REa, A|||Pseudovaginal perineoscrotal hypospadias (3)||||Andersson (1991); Thigpen (1992)| 2.25|2|19|96|2p23-p22|DFNB9|P|Deafness, autosomal recessive 9||601071|Fd|symbolized DFNB6 by authors||Deafness, autosomal recessive-9 (2)||||| 2.26|7|10|93|2p23-p22|NCX1|C|Sodium-calcium exchanger-1, sarcolemmal||182305|REa, A|||||||| 2.27|5|9|95|2p23-p22|XDH|C|Xanthine dehydrogenase (xanthine oxidase)||278300|REb, A|||Xanthinuria (1)|||17(Xd)|| 2.28|2|28|94|2p23-p21|MPV17|P|Mpv17, human homolog of glomerulosclerosis and nephrotic syndrome|in mouse|137960|REa, A||||||5(Mpv17)|| 2.29|1|5|93|2p23-qter|IFNB3|I|Interferon, beta-3, fibroblast||147860|S, REa|?on chr.8||||||| 2.30|5|10|96|2p22-p21|MSH2, COCA1, FCC1|C|mutS (E. coli) homolog 2||120435|Fd, REa|||Colon cancer, familial nonpolyposis, type 1 (3)||||| 2.31|11|20|95|2p22-p21|SFRS7, 9G8|P|Splicing factor, arginine/serine-rich 7 (35kD)||600572|A|||||||| 2.32|1|27|97|2p22-p21|SOS1|P|Son of sevenless (Drosophila) homolog 1||182530|A||||||17(Sos1)|| 2.33|7|12|92|2p22-p16|HTLF|P|Human T-cell leukemia virus enhancer factor||143089|REa, A|||||||| 2.34|10|23|87|2p22-p11|GLAT|P|Galactose enzyme activator||137030|S|||||||| 2.35|7|10|93|2p21.3-p21.1|CALM2|P|Calmodulin 2||114182|Psh, A|||||||| 2.36|11|7|89|2p21|CAD|P|CAD trifunctional protein of pyrimidine biosynthesis||114010|REa, A, S, D|proximal to 21.01||||||| 2.37|2|18|96|2p21|GLC3A|P|Glaucoma 3, primary infantile||231300|Fd|linkage heterogeneity||Glaucoma, prmary congenital, type A (2)||||| 2.38|4|1|96|2p21|HPE2|C|Holoprosencephaly-2, alobar or semilobar||157170|Ch, REc|||Holoprosencephaly-2 (2)||||| 2.39|8|30|95|2p21|LHCGR|P|Luteinizing hormone/choriogonadotropin receptor||152790|A|||Precocious puberty, male, 176410 (3); Leydig cell hypoplasia (3)||||| 2.40|3|3|97|2p21|LSL|P|Leptin, serum levels of||601694|Fd|||||||| 2.41|7|11|93|2p21|PRKR|C|Protein kinase, interferon-inducible double stranded RNA dependent||176871|A||||||17(Prkr)|| 2.42|5|1|91|2p21|SPTBN1|P|Spectrin, beta, nonerythrocytic-1 (beta-fodrin)||182790|REa, A|||||||| 2.43|4|1|96|2p21-p16|DRAD, MLVT, DHD|P|Drusen, radial, autosomal dominant (malattia Leventinese; Doyne|honeycomb degeneration of retina)|126600|Fd|||Drusen, radial, autosomal dominant (2)||||| 2.44|11|5|95|2p21-p16|FSHR, ODG1|C|Follicle stimulating hormone receptor||136435|A, Fd|||Ovarian dysgenesis, hypergonadotropic, with normal karyotype, 233300|(3)|||| 2.45|2|4|96|2p21-p16|PIGF|P|Phosphatidylinositol glycan, class F||600153|A|pseudogene on 5|||||17(Pigf)|| 2.46|7|6|95|2p16.3|SLC3A1, ATR1, D2H, NBAT|C|Solute carrier family 3 (cystine, dibasic and neutral amino acid|transporters), member 1|104614|REa, Fd, A|||Cystinuria, 220100 (3)||||| 2.47|11|7|95|2p16|CNC|P|Carney complex||160980|Fd|||Carney myxoma-endocrine complex (2)||||| 2.48|9|12|96|2p16|DHRD|P|Doyne honeycomb retinal dystrophy||126600|Fd|||Doyne honeycomb retinal dystrophy (2)||||| 2.49|10|22|96|2p16|GTBP, MSH6|P|G/T mismatch-binding protein||600678|REc, H|0.5 Mb from MSH2||{Cancer susceptibility} (3)||||| 2.50|3|15|96|2p16|MDH1|C|Malate dehydrogenase, soluble||154200|S, D, A|proximal to APOB|||||11(Mor2)|| 2.51|1|1|95|2p15-p13|SLC1A4, SATT, ASCT1|P|Solute carrier family 1 (glutamate/neutral amino acid transporter),|member 4|600229|A|||||||| 2.52|4|1|96|2p14-p13.4|RAB1, RAB1A|P|RAB1, member RAS oncogene family||179508|REa, R||||||11(Rab1)|| 2.53|12|17|95|2p14-p13|ADD2|C|Adducin-2 (beta)||102681|REa, A||||||6(Add2)|| 2.54|3|3|97|2p14-p13|ALSS|P|Alstrom syndrome||203800|LD, Fd|||Alstrom syndrome (2)||||| 2.55|11|6|94|2p14-p13|EMX1|P|Empty spiracles (Drosophila) homolog 1||600034|REa, A|||||||| 2.56|4|18|97|2p14-p13|MEIS1|P|Meis1 (mouse) homolog||601739|A||||||11(Meis1)|| 2.57|10|28|96|2p13.3-p13.1|LGMD2B|C|Limb-girdle muscular dystrophy 2B (autosomal recessive)||253601|Fd, A|||Muscular dystrophy, limb-girdle, type 2B (2); Miyoshi myopathy,|254130 (2)|||| 2.58|12|7|95|2p13.1|ACTG2, ACTA3|C|Actin, gamma 2, smooth muscle, enteric||102545|REa, A|||||||| 2.59|2|9|92|2p13|ANX4|P|Annexin IV (placental anticoagulant protein II)||106491|Psh, A||||||6(Anx4)|| 2.60|8|24|92|2p13|EGR4, NGFIC|P|Early growth response-4||128992|A||||||6(Egr4)|| 2.61|5|9|95|2p13|GFPT|C|Glutamine-fructose-6-phosphate transaminase||138292|A|||||||| 2.62|11|27|94|2p13|MAD|P|MAD protein (MAX-binding protein)||600021|A|||||||| 2.63|11|6|94|2p13|OTX1|P|Orthodenticle (Drosophila) homolog 1||600036|REa, A|||||||| 2.64|7|10|93|2p13|TGFA|C|Transforming growth factor, alpha||190170|REa, A||||||6(Tgfa)|| 2.65|7|8|96|2p13-p12|GCS1|P|Glucosidase I||601336|A, Psh|||||||| 2.66|5|1|91|2p13-p12|REL|P|Oncogene REL, avian reticuloendotheliosis||164910|REa||||||11(Rel)|| 2.67|12|21|87|2p12|CD8A|C|CD8 antigen, alpha polypeptide (p32)||186910|REa, A|distal to IGK|||||6(Ly2)|| 2.68|9|12|93|2p12|CD8B|C|CD8 antigen, beta polypeptide 1 (p37)||186730|REa, H|pseudogene also on chr.2|||||6(Ly3)|| 2.69|1|9|96|2p12|GGCX|P|Gamma-glutamyl carboxylase||137167|REa, A|||||||| 2.70|4|11|97|2p12|HK2|P|Hexokinase-2 (muscle)||601125|Fd|no recombination with TGFA||||||| 2.71|11|30|87|2p12|IGK@|C|IMMUNOGLOBULIN KAPPA LIGHT CHAIN GENE CLUSTER|||A, REa|2p11.2 by high resolution in situ mapping; order: pter-C-J-V-cen|||||6(Igk)|| 2.72|7|10|93|2p12|IGKV|C|Immunoglobulin kappa variable region||146980|REa, A|25+ genes in 4 classes; orphon gene 1.5Mb telomeric of IGKC|||||6(Igkv)|| 2.73|10|23|87|2p12|IGKJ|C|Immunoglobulin kappa joining region||146970|REa, A|5 genes||||||| 2.74|7|10|93|2p12|IGKC|C|Immunoglobulin kappa constant region||147200|REa, A|||[Kappa light chain deficiency] (3)|||6(Igkc)|| 2.75|6|18|91|2p12|IGKDEL|P|Immunoglobulin kappa polypeptide deleting element||146780|RE||||||6(Igkrs)|| 2.76|3|17|94|2p12|PAP|C|Pancreatitis-associated protein||167805|REa, A, REc|||||||| 2.77|3|14|96|2p12|REG1A, PSPS1, REG|C|Regenerating islet-derived 1 alpha (pancreatic stone protein,|pancreatic thread protein)|167770|A, Psh, REc||||||12(Reg1)|| 2.78|10|4|93|2p12|REGL, PSPS2|P|Rat regenerating islet-derived-like, human homolog (pancreatic stone|protein-like; pancreatic thread protein-like)|167771|A||||||?3(Reg2)|| 2.79|3|22|93|2p12-p11.1|CAPR, CTNR|P|Cadherin-associated protein, related (alpha-catenin related protein)||114025|A||||||6(Capr)|| 2.80|4|30|91|2p12-q11|D2S69E, TLA519|P|T-lymphocyte activation gene 519||188855|A|||||||| 2.81|5|9|95|2p12-p11.2|SFTP3|C|Pulmonary surfactant-associated protein-3, 18kD||178640|REa, A|SFTP2 in previous listing||Pulmonary alveolar proteinosis, congenital, 265120 (3)|||6(Sftp3)|| 2.82|5|2|94|2p12-q22|LTBP1|P|Latent transforming growth factor beta binding protein 1||150390|REa|||||||| 2.83|1|1|95|2p11.2|LIS2|P|Lissencephaly gene 2||600217|A|||||||| 2.84|10|17|96|2p11.2|MATA2|P|Methionine adenosyltransferase II||601468|A|||||||| 2.85|1|24|93|2p11.2-p11.1|TCF9|P|Transcriptional factor-9 (binds GC-rich sequences)||189901|A|||||||| 2.86|1|25|88|2p11|FABP1|C|Fatty acid-binding protein, liver||134650|REa, A||||||6(Fabpl)|| 2.87|5|7|89|2p11-q11|PLGL|P|Plasminogen-like||173340|REa, A|||||||| 2.88|12|4|95|2p|VSNL1|P|Visinin-like 1||600817|Fd|||||||| 2.89|3|8|91|2cen-q13|COX5B|P|Cytochrome c oxidase, subunit Vb||123866|REa|7 pseudogenes on 4, 6, 7, 11, 12, 13, and 22||||||| 2.90|9|28|96|2cen-q13|GLC1B|P|Glaucoma 1, open angle, B (adult-onset)||137760|Fd|||Glaucoma, primary open angle, adult onset (2)||||| 2.91|10|23|87|2cen-q13|INHBB|P|Inhibin, beta-2||147390|REa||||||1(Inhbb)|| 2.92|10|23|87|2cen-q13|MAL|P|T-lymphocyte maturation-associated protein||188860|REa|||||||| 2.93|12|19|90|2cen-q13|RALB|P|RAS-like protein B||179551|REa|||||||| 2.94|8|8|91|2cen-q13|VPP3|P|Vacuolar proton pump-3 (58kD subunit)||192132|REa||||||8(Vpp3)|| 2.95|1|1|95|2cen-q24|CAPG|P|Capping protein (actin filament), gelsolin-like||153615|Psh, A|||||||| 2.96|1|21|97|2q|BARD1|P|BRCA1-associated RING domain 1||601593|Psh|||||||| 2.97|1|9|97|2q|BCG, TBS|L|Mycobacterial infections, susceptibility to||209950|H, Fd|||{?Tuberculosis, susceptibility to} (2)||||| 2.98|7|8|96|2q|NIDDM1|P|Non-insulin-dependent diabetes mellitus (common, type 2)||601283|Fd|||Non-insulin-dependent diabetes mellitus 1 (2)||||| 2.99|10|23|87|2q|TUBA1|P|Tubulin, alpha, testis-specific||191110|REa|||||||| 2.100|2|22|92|2q11-q14|GLVR1|P|Gibbon ape leukemia virus receptor-1||137570|REa, A||||||2(Glvr1)|| 2.101|1|1|96|2q11.2|SLC9A2|C|Solute carrier family 9 (sodium/hydrogen exchanger), isoform 2||600530|REa, A|||||||| 2.102|10|17|96|2q11.2-q12|LAF4|P|Lymphoid nuclear protein related to AF4||601464|A||||||1(Laf4)|| 2.103|4|26|93|2q12|IL1RA|P|Interleukin-1 receptor, alpha; type I receptor||147810|REa, A||||||1(Il1r)|| 2.104|1|1|95|2q12|ZAP70|C|Protein tyrosine kinase ZAP-70 (zeta-associated protein 70kD)||176947|A|||Selective T-cell defect (3)||||| 2.105|11|5|90|2q12-q14|IGO1|P|Immunoglobulin orphon (transposed element) 1||147185|A|||||||| 2.106|4|30|93|2q12-q14|PAX8|C|Paired box homeotic gene-8||167415|REa, A||||||2(Pax8)|| 2.107|1|5|93|2q12-q21|DBI|I|Diazepam-binding inhibitor||125950|A, REa|?on 6q21-qter||||||| 2.108|7|10|93|2q12-q22|IL1RB|P|Interleukin-1 receptor, beta; type II receptor||147811|REa, A||||||1(Il1rb)|| 2.109|2|26|95|2q12-qter|NCL|P|Nucleolin||164035|REa|||||||| 2.110|10|9|94|2q13|NPH1|C|Nephronophthisis-1 (juvenile)||256100|Fd|with eye defect, separate entity||Nephronophthisis, juvenile (2)||||| 2.111|1|9|95|2q13-q14|PROC|C|Protein C (inactivator of coagulation factors Va and VIIIa)||176860|REa, A|||Thrombophilia due to protein C deficiency (3); Purpura fulminans,|neonatal (1)|||| 2.112|3|22|93|2q13-q21|EN1|C|Engrailed-1||131290|REa||||||1(En1)|| 2.113|9|14|89|2q13-q21|IL1A|C|Interleukin-1, alpha||147760|H, REa, A|tight linkage to IL1B in mouse|||||2(Il1a)|| 2.114|4|10|90|2q13-q21|IL1B|P|Interleukin-1, beta||147720|REa, A, H||||||2(Il1b)|| 2.115|10|22|96|2q14|BIN1|P|Box-dependent MYC-interacting protein-1||601248|Psh, A|||||||| 2.116|9|28|96|2q14|GLI2|C|GLI-Kruppel family member GLI2 (oncogene GLI2)||165230|REa, A|||||||| 2.117|3|15|91|2q14-q21|GYPC, GE, GPC|P|Glycophorin C (Gerbich blood group)||110750|A|||||||| 2.118|9|14|89|2q14-q21|LCO|P|Liver cancer oncogene||165320|REa, REb, A|||?Hepatocellular carcinoma (1)||||| 2.119|10|12|90|2q14-q21|RAB6|P|Oncogene RAB6||179513|A|||||||| 2.120|2|10|95|2q14-q21|VIS1, HIS1|P|Viral integration site 1||164755|A||||||2(His1)|| 2.121|11|8|95|2q14.1|SCTR|P|Secretin receptor||182098|A|||||||| 2.122|3|22|93|2q14.2|IL1RN|C|Interleukin-1 receptor antagonist||147679|REa, Fd, A|||||||| 2.123|7|11|93|2q21|D2S201E|P|DNA segment, single copy, expressed probes (seven transmembrane|segment receptor, spleen)|182203|A|||||||| 2.124|9|7|90|2q21|ERCC3, XPB|C|Excision-repair cross-complementing rodent repair deficiency,|complementation group 3|133510|S, A|||Xeroderma pigmentosum, group B (3)||||Weeda (1991a, 1991b)| 2.125|1|9|94|2q21|LCT, LAC|C|Lactase||223000|REa, Fd, A, Psh|||?Lactase deficiency, congenital (1); ?Lactase deficiency, adult,|223100 (1)|||| 2.126|3|17|94|2q21-q23|SCN6A|P|Sodium channel, voltage-gated, type VI, alpha polypeptide||182392|Pcm|||||||| 2.127|1|1|95|2q23|DPP4, CD26, ADCP2|C|Dipeptidylpeptidase IV (CD26; adenosine deaminase complexing|protein-2)|102720|S, REa, A|||||||| 2.128|3|5|95|2p23|FAPA|P|Fibroblast activation protein, alpha subunit||600403|REa, A|||||||| 2.129|10|21|92|2q23-q24.3|SCN2A|C|Sodium channel, voltage-gated, type II, alpha polypeptide||182390|REa, Pcm, A|4 related genes on chr.2|||||2(Scn2a)|| 2.130|2|6|94|2q24|SCN1A|C|Sodium channel, voltage-gated, type I, alpha polypeptide||182389|REa, A||||||2(Scn1a)|| 2.131|6|7|94|2q24|SCN3A|C|Sodium channel, voltage-gated, type III, alpha polypeptide||182391|H, Psh, A||||||2(Scn3a)|| 2.132|11|6|94|2q24-q31|LRP2|C|Low density lipoprotein-related protein 2||600073|A|||||||| 2.133|9|9|92|2q24-q32|CHRNA1|C|Cholinergic receptor, nicotinic, alpha polypeptide-1 (muscle)||100690|REa, A||||||2(Acra)|| 2.134|1|11|95|2q24-qter|NPPC|L|Natriuretic peptide precursor C||600296|H||||||1(Nppc)|| 2.135|11|7|95|2q24.1|GPD2|P|Glycerol-3-phosphate dehydrogenase 2 (mitochondrial)||138430|A|pseudogene on 19||||||| 2.136|12|2|96|2q24.1|KCNJ3, GIRK1|P|Potassium inwardly-rectifying channel, subfamily J, member 3||601534|REa, A, Fd|||||||| 2.137|11|22|94|2q31|COL3A1|C|Collagen, type III, alpha-1 polypeptide||120180|REa, A|in same 35kb segment as COL5A2||Ehlers-Danlos syndrome, type IV, 130050 (3); Aneurysm, familial,|100070 (3); Fibromuscular dysplasia of arteries, 135580 (3);|Ehlers-Danlos syndrome, type III (3)|1(Col3a1)|| 2.138|5|25|88|2q31|COL5A2|C|Collagen V, alpha-2 polypeptide||120190|REa, A|very close to COL3A1||||||| 2.139|5|21|92|2q31|GAD1|C|Glutamate decarboxylase-1, brain (67kD)||266100|REa, H, A, Psh|||?Pyridoxine dependency with seizures (1)|||2(Gad1)|| 2.140|3|26|95|2q31|IDDM7|P|Insulin-dependent diabetes mellitus 7||600321|H, Fd|||Diabetes mellitus, insulin-dependent, 7 (2)||||| 2.141|5|9|95|2q31|NFE2L2, NRF2|P|Nuclear factor (erythroid-derived 2)-like 2||600492|A|||||||| 2.142|1|4|93|2q31-q32|EVX2|P|Even-skipped homeo box-2||142991|REn|13kb 5' to HOX4I|||||2(Evx2)|| 2.143|2|26|93|2q31-q32|HOXD@, HOX4@|C|HOMEO BOX D CLUSTER|||REa, H, A, RE|linked to Km in mice; order: D11, D10, D9, D8, D4, D3|||||2(Hox4)|| 2.144|2|26|93|2q31-q32|HOXD3, HOX4A|C|Homeo box-D3||142980|RE||||||2(Hox4.1)|| 2.145|2|26|93|2q31-q32|HOXD4, HOX4B|C|Homeo box-D4||142981|A, RE|peak at 2q32.3 by A|||||2(Hox4.2)|| 2.146|2|26|93|2q31-q32|HOXD9, HOX4C|C|Homeo box-D9||142982|RE||||||2(Hox4.3)|| 2.147|2|26|93|2q31-q32|HOXD10, HOX4D|C|Homeo box-D10||142984|REa, RE||||||2(Hox4.4)|| 2.148|2|26|93|2q31-q32|HOXD8, HOX4E|C|Homeo box-D8||142985|RE||||||2(Hox4.5)|| 2.149|2|26|93|2q31-q32|HOXD11, HOX4F|C|Homeo box-D11||142986|RE||||||2(Hox4.6)|| 2.150|2|26|93|2q31-q32|HOXD1, HOX4G|C|Homeo box-D1||142987|RE||||||2(Hox4.7)|| 2.151|2|26|93|2q31-q32|HOXD12, HOX4H|P|Homeo box-D12||142988|REc|upstream from HOX4A-G|||||2(Hox4.8)|| 2.152|9|12|96|2q31-q32|HOXD13, HOX4I, SPD|C|Homeo box-D13||142989|REc, Fd|upstream from HOX4A-G||Synpolydactyly, type II, 186000 (3)|||2(Hox4.9)|| 2.153|7|16|92|2q31-q32|ITGA4, CD49D|C|Integrin, alpha-4 (antigen CD49D, alpha-4 subunit of VLA-4 receptor)||192975|Psh, A|||||||| 2.154|3|22|93|2q31-q32|ITGAV, VNRA|C|Integrin, alpha V (vitronectin receptor, alpha polypeptide)||193210|REa, A|||||||| 2.155|2|29|88|2q31-q32|NEB|C|Nebulin||161650|REa, Ch, A||||||2(Neb)|| 2.156|3|3|97|2q31-q32|PPH1|P|Primary pulmonary hypertension 1||178600|Fd|||Pulmonary hypertension, familial primary (2)||||| 2.157|8|20|91|2q31-q32|TTN|P|Titin||188840|REa||||||2(Ttn)|| 2.158|6|16|94|2q31-q32.1|CHN|P|Chimerin, n-||118423|REa, A|||||||| 2.159|12|30|92|2q31-q32.1|TFPI, LACI|C|Tissue factor pathway inhibitor (lipoprotein-associated coagulation|inhibitor)|152310|REa, A|||||||| 2.160|1|16|97|2q31-q33|PMS1, PMSL1|P|Postmeiotic segregation increased (S. cerevisiae)-like 1||600258|REa, A|||||||| 2.161|4|16|91|2q32|CREB2|C|cAMP response element-binding protein-2||123811|REa, A|||||||| 2.162|1|8|95|2q32|DLX1|P|Distal-less homeo box 1||600029|REa, A, H|||||||| 2.163|1|8|95|2q32|DLX2, TES1|C|Distal-less homeobox-2||126255|REa, A||||||2(Dlx2)|| 2.164|1|15|96|2q32|INPP1|P|Inositol polyphosphate 1-phosphatase||147263|Psh, A||||||1(Inpp1)|| 2.165|4|7|97|2q32|NEUROD|P|Neurogenic differentiation||601724|A||||||2(Neurod)|| 2.166|6|11|93|2q32|WSS|P|Wrinkly skin syndrome||278250|Ch|||Wrinkly skin syndrome (2)||||| 2.167|8|8|91|2q32-q34|GLS|P|Glutaminase||138280|REa, A||||||1(Gls)|| 2.168|1|11|89|2q32-q33.3|RPE|C|Ribulose 5-phosphate 3-epimerase||180480|S, D|||||||| 2.169|12|7|95|2q34-q36|CRYBA2|P|Crystallin, beta A2||600836|REa||||||1(cryba2)|| 2.170|4|10|90|2q32.1-qter|MYL1|C|Myosin, light polypeptide-1, alkali; skeletal, fast||160780|REa, H||||||1(Mylt)|| 2.171|8|21|92|2q32.3-q34|CREB1|C|cAMP response element-binding protein-1||123810|REa, A||||||1(Creb1)|| 2.172|8|24|92|2q33|CTLA4|C|Cytotoxic T-lymphocyte-associated serine esterase-4||123890|A, REn||||||1(Cyla4)|| 2.173|4|9|96|2q33|ORC2L|P|Origin of replication 2 (Saccharomyes) homolog-like||601182|A|||||||| 2.174|7|6|95|2q33|PLCL|P|Phospholipase C deleted in lung carcinoma||600597|RE|||||||| 2.175|10|21|96|2q33|PTHR2|P|Parathyroid hormone receptor 2||601469|A|||||||| 2.176|8|24|92|2q33-q34|CD28|C|CD28 antigen (Tp44)||186760|A, REn||||||1(Cd28)|| 2.177|10|12|90|2q33-q34|CHRND, ACHRD|C|Cholinergic receptor, nicotinic, delta polypeptide||100720|H, REa, A, LD, RE|linked to Idh-1 in mouse|||||1(Acrd)|| 2.178|10|12|90|2q33-q34|CHRNG, ACHRG|C|Cholinergic receptor, nicotinic, gamma polypeptide||100730|H, REa, LD, RE|tightly linked to CHRND by RE|||||1(Acrg)|| 2.179|12|5|91|2q33-q34|IGFBP2|C|Insulin-like growth factor-binding protein-2 (36kD)||146731|REa, A||||||1(Igfbp2)|| 2.180|7|11|93|2q33-q34|NDUFS1|P|NADH dehydrogenase (ubiquinone), Fe-S protein-1 (75kD)||157655|A|||Lactic acidosis due to defect in iron-sulfur cluster of complex I|(1)|||| 2.181|11|6|92|2q33-q35|ALS2|P|Amyotrophic lateral sclerosis-2 (juvenile)||205100|Fd|||Amyotrophic lateral sclerosis, juvenile (2)||||Hentati (1992)| 2.182|5|22|91|2q33-q35|CHE2|P|Cholinesterase, serum, 2||177500|F|linkage to chr. 16 markers?||||||| 2.183|12|22|89|2q33-q35|CRYG@, CCL|C|CRYSTALLIN, GAMMA POLYPEPTIDE CLUSTER|||REa, A|||||||| 2.184|4|7|94|2q33-q35|CRYGA, CRYG1|C|Crystallin, gamma A||123660|REa, A|||Cataract, Coppock-like (3)|||1(Cryg1)|| 2.185|4|7|94|2q33-q35|CRYGB, CRYG2|C|Crystallin, gamma B||123670|REa, A||||||1(Len2)|| 2.186|4|7|94|2q33-q35|CRYGC, CRYG3|C|Crystallin, gamma C||123680|REa, A|||||||| 2.187|4|7|94|2q33-q35|CRYGD, CRYG4|C|Crystallin, gamma D||123690|REa, A|||||||| 2.188|4|7|94|2q33-q35|CRYGEP1, CRYG5|C|Crystallin, gamma E pseudogene 1||123710|REa, A|reactivated in Coppock-like cataract||||||| 2.189|4|7|94|2q33-q35|CRYGFP1, CRYG6|P|Crystallin, gamma F pseudogene 1||123720|REa, A|||||||| 2.190|10|17|96|2q33-q35|ICR2B, LI2|P|Ichthyosis congenita II||601277|Fd|||Ichthyosis, lamellar, type 2 (2)||||| 2.191|10|17|96|2q33-q35|PDC|P|Paroxysmal dystonic choreoathetosis||118800|Fd|||Choreoathetosis, familial paroxysmal (2)||||| 2.192|7|6|95|2q33-q35|PI7, PN1|P|Protease inhibitor 7 (protease nexin I)||177010|REa, M|near MYL1||||||| 2.193|1|4|93|2q33-q36|INHA|C|Inhibin, alpha||147380|REa, RE|proximal to PAX3|||||1(Inha)|| 2.194|6|21|91|2q33-qter|CYP27, CTX|P|Cytochrome P450, subfamily XXVII (sterol 27-hydroxylase)||213700|REa|||Cerebrotendinous xanthomatosis (3)|||1(Cyp27)|| 2.195|10|23|87|2q33.3|IDH1|C|Isocitrate dehydrogenase, soluble||147700|S, D||||||1(Idh1)|| 2.196|12|7|95|2q33.3-q34|ERBB4, HER4|P|Avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 4||600543|A|||||||| 2.197|6|11|93|2q34|FN1|C|Fibronectin-1||135600|S, REa, A|||?Ehlers-Danlos syndrome, type X (1)|||1(Fn1)|| 2.198|10|17|96|2q34|IDDM13|P|Insulin-dependent diabetes mellitus 13||601318|Fd|||Diabetes mellitus, insulin-dependent, 13 (2)||||| 2.199|1|10|89|2q34|TCL4|P|T-cell leukemia/lymphoma-4||186860|Ch, RE|||Leukemia/lymphoma, T-cell (2)||||| 2.200|8|8|91|2q34-q35|ACADL, LCAD|P|Acyl-Coenzyme A dehydrogenase, long chain||201460|A|||Acyl-CoA dehydrogenase, long chain, deficiency of (3)|||1(Acadl)|| 2.201|10|23|87|2q34-q35|MAP2|P|Microtubule-associated protein-2||157130|REa, A|||||||| 2.202|9|30|95|2q35|CPS1|C|Carbamoyl-phosphate synthetase 1, mitochondrial||237300|REa, Fd, A|urea cycle enzyme||Carbamoylphosphate synthetase I deficiency (3)||||| 2.203|9|12|93|2q35|DES|P|Desmin||125660|REa, A|||?Cardiomyopathy (1); ?Myopathy, desminopathic (1)|||1(Des)|| 2.204|5|27|93|2q35|IL8RA|C|Interleukin-8 receptor, alpha||146929|REa, A, Psh|||||||| 2.205|9|12|93|2q35|IL8RB|C|Interleukin-8 receptor, beta||146928|A, REa, Psh||||||1(Il8r2)|| 2.206|5|14|96|2q35|PAX3, WS1, HUP2, CDHS|C|Paired box homeotic gene-3||193500|Ch, Fd, H, A, Psh|proximal to ALKI||Waardenburg syndrome, type I (3); Waardenburg syndrome, type III,|148820 (3); Rhabdomyosarcoma, alveolar, 268220 (3);|Craniofacial-deafness-hand syndrome, 122880 (3)|1(Sp)|Farrer (1992); Tassbehji (1992)| 2.207|6|6|94|2q35|XRCC5|C|X-ray repair, complementing defective, repair in Chinese hamster|cells-5|194364|REa, R, A|included in YAC contig spanning 2q33-q34||||||| 2.208|7|4|95|2q35|NRAMP, NRAMP1|C|Natural resistance-associated macrophage protein (might include|Leishmaniasis)|600266|REn, REc, Psh, H, Fd|within 220 kb of VIL1||?Resistance/susceptibility to TB, etc. (1)|||1(Nramp)|| 2.209|4|23|96|2q35-q36|CHGC, SCG2|P|Chromogranin C (secretogranin II)||118930|A||||||1(Scg2)|| 2.210|6|4|90|2q35-q36|TNP1|P|Transition protein-1||190231|REa, A||||||1(Tp1)|| 2.211|12|17|95|2q35-q36|TNS|P|Tensin||600076|REa, H||||||1(Tns)|| 2.212|2|1|90|2q35-q36|VIL1|C|Villin-1||193040|A||||||1(Vil)|| 2.213|3|5|95|2q35-q37|GPC1|P|Glypican 1||600395|A|||||||| 2.214|3|17|94|2q36|IRS1|P|Insulin receptor substrate-1||147545|REa, A||||||1(Irs1)|| 2.215|10|9|94|2q36|SLC2C, AE3|C|Anion exchanger 3, neuronal||106195|A, Psh, Fd||||||1(Ae3)|| 2.216|3|15|91|2q36-q37|AGXT, SPAT|P|Alanine-glyoxylate aminotransferase, liver-specific peroxisomal||259900|A, REa|||Hyperoxaluria, primary, type 1 (3)||||| 2.217|1|9|96|2q36-q37|COL4A3|C|Collagen IV, alpha-3 polypeptide (Goodpasture antigen)||120070|REa, A, RE|noncollagenous domain = Goodpasture antigen||Alport syndrome, autosomal recessive, 203780 (3)||||| 2.218|10|9|94|2q36-q37|COL4A4|C|Collagen IV, alpha-4 polypeptide||120131|REa, A|head-to-head with COL4A4 in same YAC||Alport syndrome, autosomal recessive, 203780 (3)||||| 2.219|5|12|89|2q36-q37|GCG|C|Glucagon||138030|REa, A|||[?Hyperproglucagonemia] (1)|||2(Gcg)|| 2.220|3|5|95|2q36-q37.2|VGL|P|Vigilin||600371|A|||||||| 2.221|7|11|93|2q36.3-q37.1|ALPI|C|Alkaline phosphatase, intestinal||171740|A, REa, RE|close to ALPP; proximal to PAX3|||||1(Akp3)|| 2.222|3|14|96|2q36.3-q37.1|HTR2B|P|5-hydroxytryptamine (serotonin) receptor 2B||601122|A|||||||| 2.223|4|12|92|2q37|ALPP|C|Alkaline phosphatase, placental (Regan isozyme)||171800|REb, REa, A, RE||||||4(Akp2)|| 2.224|4|12|92|2q37|ALPPL2|P|Alkaline phosphatase, placental-like 2||171810|REa, A|||||||| 2.225|3|5|95|2q37|BDE|L|Brachydactyly type E||113300|Ch, D|?in contiguous gene BDMR syndrome||?Brachydactyly type E (2)||||| 2.226|3|9|95|2q37|BDMR|P|Brachydactyly-mental retardation syndrome||600430|Ch|||Brachydactyly-mental retardation syndrome (2)||||| 2.227|10|22|96|2q37|COL6A3|C|Collagen VI, alpha-3 polypeptide||120250|REa, A|close to CRBP1||Bethlem myopathy, 158810 (2)|||1(Col6a3)|| 2.228|1|6|97|2q37|DIFF6|P|Differentiation 6 (deoxyguanosine triphosphate triphosphohydrolase)||601506|A|||||||| 2.229|7|11|93|2q37|HDLBP|P|High-density lipoprotein-binding protein||142695|REa, A|||||||| 2.230|7|6|95|2q37.1|SAG|C|S-antigen; retina and pineal gland (arrestin)||181031|REa, A, Fd|||Oguchi disease, 258100 (3)|||1(Sag)|| 2.231|1|1|95|2q37.3|PDCD1|P|Programmed cell death 1||600244|A|||||||| 2.232|4|12|92|Chr.2|ADRA2B, ADRA2L1|P|Adrenergic, alpha-2B-, receptor||104260|REa|||||||| 2.233|12|13|95|Chr.2|EEF1B2|P|Eukaryotic translation elongation factor 1, beta 2||600655|Psh|||||||| 2.234|1|11|95|Chr.2|HPCAL1|P|Hippocalcin-like 1||600207|REa|||||||| 2.235|3|6|92|Chr.2|ITGA6|P|Integrin, alpha-6||147556|REa|||||||| 2.236|3|6|92|Chr.2|ITGB6|P|Integrin, beta-6||147558|REa|||||||| 2.237|7|10|91|Chr.2|MIC18|P|Antigen identified by monoclonal antibody AUA1||185535|S|||||||| 2.238|11|4|93|Chr.2|NPY3R|P|Neuropeptide Y Y3 receptor||162643|Psh|||||||| 2.239|5|27|93|Chr.2|PTMA, TMSA|P|Prothymosin, alpha (gene sequence 28)||188390|REa|||||||| 2.240|6|28|95|Chr.2|SLC9A4, NHE4|P|Solute carrier family 9 (sodium/hydrogen exchanger), isoform 4||600531|REa|||||||| 2.241|1|24|93|Chr.2|TAC1R, NK1R|C|Tachykinin 1 receptor (substance P receptor, neurokinin-1 receptor)||162323|REa, Psh|||||||| 2.242|11|20|95|Chr.2|TNFAIP6|P|Tumor necrosis factor, alpha-induced protein 6||600410|Psh|||||||| 2.243|10|23|87|Chr.2|UGP2|P|Uridyl diphosphate glucose pyrophosphorylase-2||191760|S|||||||| 2.244|9|11|95|Chr.2|UGT1A1, GNT1|P|UDP-glucuronosyltransferase-1 family, member 1||191740|REa|||Crigler-Najjar syndrome, type I, 218800 (3); [Gilbert syndrome],|143500 (3)||1(Ugt1)|Bosma (1992); Ritter (1992)| 2.245|9|15|96|Chr.2|UROC|P|Urocortin||600945|REa|||||||| 2.246|10|23|87|Chr.2|UV24|P|Ultraviolet damage, repair of, in UV24||192070|S|||||||| 2.247|4|10|90|Chr.2|ZNF2|P|Zinc finger protein-2||194500|REa|||||||| 3.1|12|22|89|3pter-p21|CCK|C|Cholecystokinin||118440|REb, REa||||||9(Cck)|| 3.2|2|11|97|3pter-p21|GPRV28|P|G protein-coupled receptor V28||601470|REa|||||||| 3.3|2|15|96|3pter-p14|SEP|P|SEP transmembrane protein||601053|REa|||||||| 3.4|3|5|95|3p26.2|OXTR|C|Oxytocin receptor||167055|A, Psh|3p25 by others||||||| 3.5|9|15|96|3p26|PANG|P|Plasmocytoma-associated neuronal glycoprotein||601325|REa, H||||||6(Pang)|| 3.6|10|9|94|3p26-p25|ATP2B2, PMCA2|C|ATPase, Ca++ transporting, plasma membrane, 2||108733|REa|||||||| 3.7|1|1|95|3p26-p25|ITPR1|C|Inositol 1,4,5-triphosphate receptor, type 1||147265|REa, A||||||6(Itpr1)|| 3.8|7|11|93|3p26-p25|VHL|C|von Hippel-Lindau syndrome||193300|Fd, D, RE|||von Hippel-Lindau syndrome (3); Renal cell carcinoma (3)||||| 3.9|6|7|94|3p26-p24|IL5RA|C|Interleukin-5 receptor, alpha||147851|REa, A||||||6(Il5r)|| 3.10|11|2|95|3p26-p22|FACD, FAD|P|Fanconi anemia, complementation group D||227646|M|||Fanconi anemia, type D (2)||||| 3.11|1|1|95|3p25.1|RAD23B|P|RAD23 (Saccharomyces cerevisiae) homolog B||600062|A, RE|within 625kb of XPC|||||4(Rad23b)|| 3.12|9|1|95|3p25|BTD|P|Biotinidase||253260|A|||Biotinidase deficiency (3)||||| 3.13|8|24|92|3p25|RAF1|C|Oncogene RAF1||164760|REa, Fd, A||||||6(Raf1)|| 3.14|9|18|96|3p25|TR4|P|Nuclear hormone receptor TR4||601426|REa, A|||||||| 3.15|1|9|94|3p25|XPC, XPCC|C|Xeroderma pigmentosum, complementation group C||278720|REa, A, RE|incorrectly put on 5 by M||Xeroderma pigmentosum, complementation group C (3)|||6(Xpc)|| 3.16|4|24|96|3p25-p24.2|MFS2|P|Marfan syndrome, type II||154705|Fd|||Marfan syndrome, type II (2)||||| 3.17|11|8|94|3p25-p24|D3S1231E, SEC13R|P|SEC13, yeast, related||600152|Psh, A||||||6(Sec13n)|| 3.18|10|9|94|3p25-p24|FBLN2|P|Fibulin-2||135821|A||||||6(Fbln2)|| 3.19|12|4|95|3p25-p24|SLC6A1, GABATR|P|Solute carrier family 6 (neurotransmitter transporter, GABA), member 1||137165|A|||||||| 3.20|11|12|96|3p25-p22|^CDCD2, CMPD2|P|Cardiomyopathy, dilated, with conduction defect-2||601154|Fd|||Cardiomyopathy, dilated 2 (2)||||| 3.21|3|5|95|3p25-q24|SLC6A6, TAUT|C|Solute carrier family 6 (neurotransmitter transporter, taurine),|member 6|186854|REa, A||||||6(Slc6a6)|| 3.22|8|24|92|3p24.3|THRB, ERBA2, THR1|C|Thyroid hormone receptor, beta (avian erythroblastic leukemia viral|(v-erb-a) oncogene homolog-2)|190160|REa, A, RE, Fd|?second gene ERBA-beta within 120kb||Thyroid hormone resistance, 274300, 188570 (3)||||| 3.23|5|27|93|3p24.2-p21.2|IMPDH2|P|IMP (inosine 5'-phosphate) dehydrogenase-2||146691|Psh|||||||| 3.24|2|3|97|3p24|DAZH|P|Deleted in azoospermia homolog||601486|A|||||||| 3.25|8|15|90|3p24|RARB, HAP|C|Retinoic acid receptor, beta polypeptide||180220|REa, A|= HAP = HBV-activated protein|||||14(Rarb)|| 3.26|4|16|91|3p24-p22|RAB5|P|RAS-related protein-5||179512|A|||||||| 3.27|5|9|95|3p24-p21|SCN5A, LQT3|C|Sodium channel, voltage-gated, type V, alpha polypeptide||600163|Fd, A|||Long QT syndrome-3 (3)||||| 3.28|6|15|89|3p23-p22|ACAA|P|Acetyl-Coenzyme A acyltransferase (peroxisomal 3-oxoacyl-Coenzyme A|thiolase)|261510|REa, A|||Pseudo-Zellweger syndrome (1)||||| 3.29|7|11|93|3p23-p21|NKTR|P|Natural tumor-killer recognition sequence||161565|REa|mouse gene close to Cck|||||9(Nktr)|| 3.30|1|11|89|3p23-p21|SCLC1|C|Small-cell cancer of lung||182280|Ch, D|centromeric to ERBA2||Small-cell cancer of lung (2)||||| 3.31|9|29|96|3p23-p21|TDGF1|C|Teratocarcinoma-derived growth factor-1||187395|Rea, A||||||(Tdgf1)|| 3.32|1|1|95|3p22|TGFBR2|P|Transforming growth factor, beta receptor II (70-80kD)||190182|A, REa|||||||| 3.33|5|9|95|3p22|VIPR1|P|Vasoactive intestinal peptide receptor 1||192321|A|incorrectly assigned to 2q37||||||| 3.34|7|8|95|3p22-p21.33|TGM4|P|Transglutaminase 4 (prostate)||600585|A|||||||| 3.35|7|8|95|3p22-p21.3|CTNNB1|C|Catenin (cadherin-associated protein), beta 1 (88kD)||116806|A, REn, Psh||||||9(Catnb)|| 3.36|9|22|96|3p22-p21.3|TCEA|P|Transcription elongation factor A (SII)||601425|REa, A|||||||| 3.37|11|8|94|3p22-p21.1|PTHR|C|Parathyroid hormone receptor||168468|REa, A, Psh|||Metaphyseal chondrodysplasia, Murk Jansen type, 156400 (3)||||| 3.38|6|18|90|3p22-p21|ZNF35, HF10|P|Zinc finger protein-35 (HF.10)||194533|REa, A|||||||| 3.39|2|28|94|3p21.33|GLB1|C|Galactosidase, beta-1||230500|S, EM, A|3p14.2-p11 excluded||GM1-gangliosidosis (3); Mucopolysaccharidosis IVB (3)|||9(Bgl)|| 3.40|10|1|95|3p21.3|COL7A1|C|Collagen VII, alpha-1 polypeptide||120120|REa, A|||Epidermolysis bullosa dystrophica, dominant, 131750 (3);|Epidermolysis bullosa dystrophica, recessive, 226600 (3);|Epidermolysis bullosa, pretibial, 131850 (3)||Al-Imara (1992); Hovnanian (1992)| 3.41|11|18|96|3p21.3|MLH1, COCA2|P|mutL (E. coli) homolog 1||120436|Fd, A|||Colorectal cancer, familial nonpolyposis type 2 (3); Turcot syndrome|with glioblastoma, 276300 (3); Muir-Torre syndrome, 158320 (3)|||| 3.42|1|20|95|3p21.3|MST1R, RON|P|Macrophage stimulating 1 receptor (c-met-related tyrosine kinase)||600168|A|||||||| 3.43|3|15|96|3p21.3|SEMA3F|P|Semaphorin III/F||601124|REc|||||||| 3.44|7|8|96|3p21.3|SEAM5|P|Semaphorin A(V)||601281|REc|||||||| 3.45|2|28|94|3p21.3|UQCRC1|P|Ubiquinol-cytochrome c reductase core protein I||191328|REn|close upstream of COL7A1||||||| 3.46|1|25|96|3p21.3-p21.1|GPR5|P|G protein-coupled receptor-5||600552|A|||||||| 3.47|2|11|97|3p21.3-p14.3|TNNC1|P|Troponin C1, slow||191040|Psh, REa||||||7(Tnnc1)|| 3.48|3|18|94|3p21.2-p21.1|AMT|P|Aminomethyltransferase (glycine cleavage system protein T)||238310|REa|||Hyperglycinemia, nonketotic, type II (1)||||| 3.49|5|3|95|3p21.2-p21.1|ARF2|P|ADP-ribosylation factor 2||600507|A|||||||| 3.50|10|6|92|3p21.2-p21.1|ITIH1|C|Inter-alpha (globulin) inhibitor, H1 polypeptide||147270|A, H||||||14(Intin1)|| 3.51|10|6|92|3p21.2-p21.1|ITIH3|C|Pre-alpha (globulin) inhibitor, H3 polypeptide||146650|A, H||||||14(Intin3)|| 3.52|4|10|97|3p21.2-p14.1|PEO2|P|Progressive external ophthalmoplegia, type 2||601226|Fd|||Progressive external ophthalmoplegia, type 2 (2)||||| 3.53|8|24|92|3p21.1|ACY1|C|Aminoacylase-1||104620|S, REa, REn||||||9(Acy)|| 3.54|7|8|95|3p21.1|ALAS1|C|Aminolevulinate, delta-, synthase-1||125290|REa, A, R, Psh|||||||| 3.55|5|9|95|3p21.1-p12|SCA7, OPCA3|C|Spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal|degeneration)|164500|Fd|||Cerebellar ataxia with retinal degeneration (2)||||| 3.56|12|7|95|3p21.1-p14.1|LRS1, LAR1|P|Larsen syndrome 1 (autosomal dominant)||150250|Fd|||Larsen syndrome, autosomal dominant (2)||||| 3.57|6|7|94|3p21|APEH, D3S48E|C|N-acylaminoacyl-peptide hydrolase||102645|REa, A, D|||||||| 3.58|3|26|90|3p21|ARH12, RHOH12|P|Aplysia RAS-related homolog 12 (oncogene RHO H12)||165390|A|||||||| 3.59|11|4|93|3p21|CDC25A|P|Cell division cycle 25A||116947|REa, Psh, A|||||||| 3.60|4|1|96|3p21|CMKBR1|P|Chemokine (C-C) receptor 1||601159|A||||||9(Cmkbr1)|| 3.61|12|4|96|3p21|CMKBR5, CCCKR5|P|Chemokine (C-C) receptor 5||601373|REc, R|||{HIV infection, susceptibility/resistance to} (3)||||| 3.62|1|26|93|3p21|DAG1, DAG|P|Dystrophin-associated glycoprotein-1||128239|REa, A||||||9(Dag1)|| 3.63|12|9|91|3p21|GNAI2, GNAI2B, GIP|C|Guanine nucleotide-binding protein (G protein), alpha-inhibiting|activity polypeptide-2|139360|REa, A|on 12p13-p12, GNAI2L||Pituitary ACTH-secreting adenoma (3)|||9(Gnai2)|| 3.64|5|21|92|3p21|GNAT1|C|Guanine nucleotide-binding protein (G protein), alpha-transducing|(transducin) activity polypeptide-1|139330|REa, A||||||9(Gnat1)|| 3.65|1|1|95|3p21|LAMB2, LAMS|C|Laminin, beta 2 (laminin S)||150325|REa, A|||||||| 3.66|8|27|92|3p21|MST1, HGFL|P|Macrophage-stimulating-1 (hepatocyte growth factor-like)||142408|REn, H||||||9(Hgfl)|| 3.67|12|7|95|3p21|TCTA|P|T-cell leukemia translocation altered gene||600690|Ch|||||||| 3.68|11|4|93|3p21|UBE2|P|Ubiquitin-activating enzyme-2||191325|RE|SCLC1 tumor suppressor gene||||||| 3.69|12|3|96|3p21-p14|DFNB6|P|Deafness, autosomal recessive 6||600971|Fd, LD|||Deafness, autosomal recessive-6 (2)|||?9(sr)|| 3.70|11|8|94|3p21-p14|HRH1|P|Histamine receptor, subclass H1||600167|REa, A||||||6(Hrh1)|| 3.71|2|28|94|3p21-p14|WNT5A|P|Wingless-type MMTV integration site 5A, human homolog of||164975|Psh, A|||||||| 3.72|3|14|96|3p21-p12|TMF1|P|TATA element modulatory factor 1||601126|A|||||||| 3.73|2|19|97|3p14.3|BRCACOX|P|Peroxisomal branched chain acyl-CoA oxidase||601641|A|||||||| 3.74|1|4|93|3p14.3|CACNL1A2, CCHL1A2|C|Calcium channel, L type, alpha-1 polypeptide, isoform-2|(neuroendocrine)|114206|REa, H||||||14(Cch1a2)|| 3.75|4|1|96|3p14.3|TKT1|P|Transketolase-1||277730|REa, A|||{Wernicke-Korsakoff syndrome, susceptibility to} (1)||||| 3.76|4|1|96|3p14.2|FHIT|P|Fragile histidine triad gene||601153|REf|deleted in RCC||||||| 3.77|3|22|93|3p14.2|PTPRG, PTPG|C|Protein tyrosine phosphatase, receptor-type, gamma polypeptide||176886|REa, A, Fd|||||||| 3.78|11|16|94|3p14.2|RCA1, HRCA1|C|Renal carcinoma, familial, associated 1||144700|Fc, Ch|near FRA3B||Renal cell carcinoma (2)||||| 3.79|1|1|95|3p14.1-p12.3|MITF, WS2A|C|Microphthalmia-associated transcription factor||156845|REa, A, Fd|||Waardenburg syndrome, type 2A, 193510 (3)|||6(mi)|| 3.80|11|8|94|3p13-p12|BBS3|P|Bardet-Biedl syndrome 3||600151|Fd|||Bardet-Biedl syndrome 3 (2)||||| 3.81|3|27|90|3p13-q23|PDHB|P|Pyruvate dehydrogenase, E1 beta polypeptide||179060|REa|||||||| 3.82|4|1|96|3p12|GBE1|P|Glycogen branching enzyme||232500|REa|||Glycogen storage disease IV (3)||||| 3.83|5|3|93|3p12-q13.2|IL12A|P|Interleukin-12A (natural killer cell stimulatory factor-1, cytotoxic|lymphocyte maturation factor-1, p35)|161560|REa, Psh|||||||| 3.84|7|11|93|3p12-qter|ZNF80|P|Zinc finger protein-80 (pT17)||194553|REa|||||||| 3.85|3|18|94|3p11.2|ETK1, HEK|P|eph-like tyrosine kinase 1 (human embryo kinase 1)||179611|REa, A|||||||| 3.86|10|1|95|3p11.1-q11.2|DMT1|P|Dementia, familial, nonspecific||600795|Fd|||Dementia, familial, nonspecific (2)||||| 3.87|2|28|89|3p11.1-q11.2|PROS1|C|Protein S, alpha||176880|REa|||Protein S deficiency (3)||||| 3.88|8|24|92|3p11.1-q11.2|PROSP, PROS2|P|Protein S pseudogene (beta)||177030|REa|2 protein S genes in primates||||||| 3.89|12|9|95|3p11|POU1F1, PIT1|C|POU domain, class 1, transcription factor 1 (Pit1, growth hormone|factor 1)|173110|Fd, A|||Pituitary hormone deficiency, combined (3)|||16(Pit1,dw)|| 3.90|9|9|96|3p|MYL3|P|Myosin, light polypeptide-3, alkali; ventricular, skeletal, slow||160790|REa, H|||Cardiomopathy, hypertrophic, mild-ventricular chamber type (3)|||9(Mylc)|| 3.91|3|18|94|3p|PRKCD|P|Protein kinase C, delta||176977|REa, H||||||14(Pkcd)|| 3.92|10|1|95|3p|SYN2|P|Synapsin II||600755|REa, H||||||6(Syn2)|| 3.93|5|21|92|3p|TOP2B|P|Topoisomerase (DNA) II, beta (180kD)||126431|REa, Fd|||||||| 3.94|7|8|95|3p|TRH|P|Thyrotropin-releasing hormone||275120|REa, H|||Thyrotropin-releasing hormone deficiency (1)|||6(Trh)|| 3.95|11|8|95|3cen-q21|MYLK, MLCK|P|Myosin-light-polypeptide kinase||600922|Psh|||||||| 3.96|3|6|94|3q|CTPCT|L|CTP: phosphocholine cytidylyltransferase||123695|H||||||16(Ctpct)|| 3.97|5|1|91|3q|RPN1|P|Ribophorin I||180470|REa||||||6(Rpn1)|| 3.98|3|26|90|3q11-q12|GPX1|C|Glutathione peroxidase-1||138320|S, REa|||Hemolytic anemia due to glutathione peroxidase deficiency (1)||||| 3.99|4|1|96|3q11.2-q13.1|GPR15|P|G protein-coupled receptor 15||601166|A|||||||| 3.100|1|7|95|3q12|CPO|P|Coproporphyrinogen oxidase||121300|REa, A|||Coproporphyria (3); Harderoporphyrinuria (3)||||| 3.101|11|28|88|3q12-q13|MOX2|C|MRC OX-2 antigen||155970|REa, A|||||||| 3.102|7|11|91|3q12-q13.1|COL8A1|P|Collagen VIII, alpha-1 polypeptide||120251|A|||||||| 3.103|3|15|92|3q13|FACL1, LACS|P|Fatty-acid-Coenzyme A ligase, long chain 1||152425|A|? on chr.4 by flow-sorting||||||| 3.104|3|9|95|3q13|FIH|L|Hypoparathyroidism||146200|Fd|?mutation in PCAR1||Hypoparathyroidism, familial (2)||||| 3.105|9|29|96|3q13|HCLS1|P|Hematopoietic cell-specific Lyn substrate 1||601306|A|||||||| 3.106|2|28|89|3q13|UMPS, OPRT|C|Uridine monophosphate synthetase (orotate phosphoribosyl transferase|and orotidine-5'-decarboxylase)|258900|S, A|||Oroticaciduria (1)||||| 3.107|12|3|95|3q13-q22|CMT2B|P|Charcot-Marie-Tooth neuropathy 2B||600882|Fd|||Charcot-Marie-Tooth neuropathy 2B (2)||||| 3.108|11|25|96|3q13.1|MHS4|P|Malignant hyperthermia susceptibility 4||600467|Fd|||Malignant hyperthermia susceptibility 4 (2)||||| 3.109|2|19|97|3q13.1-q13.2|ALCAM|P|Activated leucocyte cell adhesion molecule||601662|A|||||||| 3.110|9|9|96|3q13.1-q13.2|MER6, CD47, IAP|C|Antigen identified by monoclonal antibody 1D8|(integrin-associated protein; CD47)|601028|S, A|||||||| 3.111|5|9|95|3q13.2-q21|ADCY5|C|Adenylate cyclase 5||600293|REa, A||||||16(Adcy5)|| 3.112|1|25|93|3q13.3|DRD3|P|Dopamine receptor D3||126451|REb, A|||{?Schizophrenia, susceptibility to} (2)||||| 3.113|4|1|91|3q13.3-q24|ZNF9, CNBP1|P|Zinc finger protein-9 (a cellular retroviral nucleic acid-binding|protein)|116955|REa, A|||||||| 3.114|12|9|95|3q21|CD80, CD28LG, LAB7|C|CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)||112203|REa, Psh, A|||||||| 3.115|10|9|94|3q21|CDCL1|P|Cell division cycle-like 1 (mitotin)||116945|A|||||||| 3.116|5|9|95|3q21|NCK|C|NCK tyrosine kinase||600508|A, REn, REa|||||||| 3.117|3|31|97|3q21|STFA, STF1|P|Stefin A (cystatin A)||184600|REa, D||||||16(Stf1)|| 3.118|10|23|87|3q21|TF|C|Transferrin||190000|S, H, REa, D, A|||Atransferrinemia (1)|||9(Trf)|| 3.119|11|13|96|3q21-q22|MBS2|P|Moebius syndrome 2||601471|Fd|||Moebius syndrome 2 (2)||||| 3.120|8|8|91|3q21-q22|PCCB|C|Propionyl Coenzyme A carboxylase, beta polypeptide||232050|REa, A, D|pccB complementation group||Propionicacidemia, type II or pccB type (3)||||| 3.121|12|22|89|3q21-q22|RBP1, CRBP1|C|Retinol-binding protein-1, cellular||180260|REa, A|close to CRBP2|||||9(Crbp)|| 3.122|10|4|93|3q21-q23|ACPP|C|Acid phosphatase, prostate||171790|REa, A|||||||| 3.123|11|6|95|3q21-q23|EPHT2, NET|P|eph tyrosine kinase 2||600905|Psh, A|||||||| 3.124|10|22|96|3q21-q23|HGD, AKU|C|Homogentisate 1,2-dioxygenase (homogentisate oxidase)||203500|Fd, H, Psh, A|||Alkaptonuria (3)|||16(aku)|| 3.125|10|12|90|3q21-q23|LTF|C|Lactotransferrin||150210|REa, A|||?Lactoferrin-deficient neutrophils, 245480 (1)|||9(Ltf)|| 3.126|12|9|95|3q21-q24|BCPM, HHD|C|Benign chronic pemphigus (Hailey-Hailey disease)||169600|Fd|||Hailey-Hailey disease (2)||||| 3.127|9|26|96|3q21-q24|CASR, HHC1, PCAR1|P|Calcium-sensing receptor||601199|Fd, REa|15cM from RHO||Hypocalciuric hypercalcemia, type I, 145980 (3); Neonatal|hyperparathyroidism, 239200 (3); Hypocalcemia, autosomal dominant,|601198 (3)||Chou (1992)| 3.128|6|29|95|3q21-q24|CP|C|Ceruloplasmin||117700|F, H, REa, A|~15cM from TF||[Hypoceruloplasminemia, hereditary] (1); Hemosiderosis,|systemic, due to aceruloplasminemia (3)||9(Cp)|| 3.129|9|12|93|3q21-q24|RHO, RP4|C|Rhodopsin||180380|REa, A, Fd|||Retinitis pigmentosa-4, autosomal dominant (3); Retinitis pigmentosa,|autosomal recessive (3); Night blindness, congenital stationery,|rhodopsin-related (3)|6(Rho)|Rosenfeld (1992)| 3.130|5|9|95|3q21-q25|AGTR1, AGTR1A, AT2R1|C|Angiotensin receptor 1||106165|REa|||||||| 3.131|12|9|95|3q21-q25|M3S1|P|Membrane component, chromosome 3, surface marker 1||191155|REa|||||||| 3.132|11|8|94|3q21-q25|USH3|P|Usher syndrome-3||276902|Fd|frequent in Finland||Usher syndrome, type 3 (2)||||| 3.133|5|21|92|3q21-q27|MME, CD10, CALLA|C|Membrane metallo-endopeptidase (common acute lymphocytic leukemia|antigen)|120520|REa, A||||||9(Mme)|| 3.134|1|1|95|3q21-q28|SIAT1|P|Sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)||109675|REa, A|||||||| 3.135|2|15|96|3q21-qter|NOVP, NOV|P|NOV transmembrane protein||601055|REa|||||||| 3.136|12|22|87|3q21-qter|RBP2, CRBP2|P|Retinol-binding protein-2, cellular||180280|REa|close to CRBP1|||||9(Crbp2)|| 3.137|1|27|97|3q22-q23|BPES|C|Blepharophimosis, epicanthus inversus and ptosis||110100|Ch, Fd|||Blepharophimosis, epicanthus inversus and ptosis, types I and II (2)||||Alvarado (1987); Fujita (1992)| 3.138|1|21|97|3q22-q23|RASA2, GAP1M|P|RAS p21 protein activator 2||601589|A|||||||| 3.139|4|23|96|3q22-q24|FRP1|P|FRAP-related protein-1||601215|A|||||||| 3.140|9|12|93|3q25|IGKJRB1|P|Immunoglobulin kappa J region recombination signal-binding protein-1||147183|A|pseudogenes on 9p13, 9q13||||||| 3.141|8|29|96|3q25.1|MLF1|P|Myeloid leukemia factor-1||601402|Ch|||Leukemia, myeloid, acute (1)||||| 3.142|2|20|97|3q25.1-q25.2|PFN2, PFL, D3S1319E|P|Profilin-2||176590|REc|mapped previously to chr.1||||||| 3.143|4|1|96|3q25-q26|SI|P|Sucrase-isomaltase||222900|REa, A, Fd|||Sucrose intolerance (3)|||3(Sis)|| 3.144|12|3|96|3q26|EVI1|C|Ectropic viral integration site-1; oncogene EVI1||165215|A, Ch, REc|||3q21q26 syndrome (1)||||| 3.145|10|9|94|3q26|MDS1|P|Myelodysplasia syndrome-1||600049|Ch, REc, A|cen--EVI1--MDS1--EAP--tel||Myelodysplasia syndrome-1 (3)||||| 3.146|11|4|93|3q26|RPL22, EAP|C|Ribosomal protein L22||180474|Ch, REc|fused with AML1 in t(3;21)||||||| 3.147|1|10|96|3q26-qter|CLCN2|P|Chloride channel 2||600570|Psh|||||||| 3.148|8|8|91|3q26.1-q26.2|BCHE, CHE1|C|Butyrylcholinesterase||177400|F, D, A|distal to CP, TF||Apnea, postanesthetic (3)||||| 3.149|6|13|95|3q26.1-q26.2|ECT2|P|Epithelial cell transforming sequence 2 oncogene||600586|A, Psh|||||||| 3.150|11|28|94|3q26.1-q26.3|SLC2A2, GLUT2|C|Solute carrier family 2 (facilitated glucose transporter), member 2||138160|REa, A, Fd|||||||| 3.151|10|23|87|3q26.2|TFRC|C|Transferrin receptor||190010|S, H, REa, A|||||||| 3.152|9|15|96|3q26.2-q26.3|OSP|P|Oligodendrocyte-specific protein||601326|REa, A|||||||| 3.153|5|1|91|3q26.2-qter|APOD|P|Apolipoprotein D||107740|REb, A||||||16(Apod)|| 3.154|12|9|91|3q26.3|CDL|L|Cornelia de Lange syndrome||122470|Ch|||?Cornelia de Lange syndrome (2)||||Wilson (1983)| 3.155|6|8|95|3q26.3|PIK3CA|P|Phosphatidylinositol 3-kinase, catalytic, alpha polypeptide||171834|REa, A|||||||| 3.156|1|1|95|3q26.3-q27|SOX2|P|SRY (sex determining region Y)-box 2||184429|A|||||||| 3.157|12|9|95|3q26.3-q27|MGDF, THPO, MPLLG, TPO|C|Megakaryocyte growth and development factor||600044|A||||||16(Thpo)|| 3.158|7|8|95|3q27|AHSG|C|Alpha-2HS-glycoprotein||138680|F, S, D, REa, A, REn|linked to TF, CHE1; ?order = cen-TF-CHE1-AHSG||||||| 3.159|12|16|93|3q27|BCL6|P|B-cell CLL/lymphoma-6||109565|Ch, A|||Lymphoma, B-cell (2); Lymphoma, diffuse large cell (3)|||16(Bcl6)|| 3.160|8|15|96|3q27|DVL3|C|Dishevelled 3 (homologous to Drosophila dsh)||601368|Psh, A|||||||| 3.161|4|9|96|3q27|EHHADH, PBFE|C|Enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase||261515|A, REn|Order: cen-EHHADH-[KNG(HRG/AHSG)]-BCL6-tel||Peroxisomal bifunctional enzyme deficiency (1)||||| 3.162|12|14|87|3q27|FIM3|P|Friend murine leukemia virus integration site 3, homolog of||136770|REa, A||||||3(Fim3)|| 3.163|7|8|95|3q27|HRG|C|Histidine-rich glycoprotein||142640|REa, A, Fd, REn|||?Thrombophilia due to elevated HRG (1)||||| 3.164|7|8|95|3q27|KNG|C|Kininogen||228960|Psh, A, REn|||[Kininogen deficiency] (3)||||| 3.165|3|5|95|3q27|RFC4|P|Replication factor C (activator 1) 4 (37kD)||102577|Psh, A|||||||| 3.166|12|9|95|3q27-q28|CRARF|P|C4/C2 activating component of Ra-reactive factor||600521|A||||||16(Crarf)|| 3.167|5|9|95|3q27-qter|EIF4G|P|Eukaryotic translation initiation factor 4 gamma||600495|Psh|||||||| 3.168|4|10|97|3q28|CLAPM1|P|Clathrin-associated/assembly/adaptor protein, medium 1||601024|REa, A|||||||| 3.169|1|26|97|3q28|ETV5, ERM|C|Ets variant gene 5 (ets-related molecule)||601600|A|||||||| 3.170|2|24|97|3q28|FGF12, FHF1|P|Fibroblast growth factor 12||601513|REa, H, A||||||16(Fhf1)|| 3.171|10|1|95|3q28|LPP|P|Lipoma-preferred-partner gene||600700|Ch, RE|fused with HMGIC||Lipoma (1)||||| 3.172|10|23|87|3q28|SST|C|Somatostatin||182450|REa||||||16(Smst)|| 3.173|12|9|95|3q28-q29|HRY|P|Hairy (Drosophila)-homolog||139605|A|||||||| 3.174|12|3|95|3q28-q29|OPA1|C|Optic atrophy 1 (autosomal dominant)||165500|Fd|||Optic atrophy 1 (2)|||?16(Bst)|| 3.175|2|18|96|3q29|DLG1|P|Discs, large (Drosophila) homolog 1||601014|||||||16(Dlgh1)|| 3.176|10|23|87|3q29|MFI2, MAP97|P|Melanoma-associated antigen p97||155750|S, A|||||||| 3.177|8|8|91|3q29|MUC4|P|Mucin 4, tracheobronchial||158372|REa, A|||||||| 3.178|4|4|96|3q29-qter|RPL35A|P|Ribosomal protein L35A||180468|REa, A|previous assignment to chr.18 in error||||||| 3.179|10|23|87|Chr.3|AF8T|P|Temperature sensitive, tsAF8, complement||116950|S|||||||| 3.180|2|23|92|Chr.3|CPA3|P|Carboxypeptidase A3, mast cell||114851|Psh|||||||| 3.181|4|7|94|Chr.3|CRYGS, CRYG8|P|Crystallin, gamma S||123730|REa|||||||| 3.182|2|22|92|Chr.3|ERCM1|P|Excision-repair complementing defective repair in mouse cells||133535|S|||||||| 3.183|6|14|95|Chr.3|ERVT4, TRV4|P|Endogenous retroviral sequence, truncated 4 (band T4, 14.9kb)||190970|REa|||||||| 3.184|6|8|89|Chr.3|GAP43|P|Neuron growth-associated protein 43||162060|REa||||||16(Gap43)|| 3.185|4|11|97|Chr.3|GATA2|P|GATA-binding protein 2||137295|REa||||||6(Gata2)|| 3.186|7|8|95|Chr.3|GP9|P|Glycoprotein IX, platelet||173515|REb|||Bernard-Soulier syndrome, variant form (3)||||| 3.187|12|6|91|Chr.3|GSTM1L, GST1L|P|Glutathione S-transferase M1-like||138270|REa|||||||| 3.188|10|23|87|Chr.3|HV1S|I|Herpes virus sensitivity||142450|S|see chr. 11||||||| 3.189|4|1|96|Chr.3|P2RY1, P2Y1|P|Purinergic receptor P2Y, G-protein coupled, 1||601167|Psh|||||||| 4.1|2|9|92|4pter-q21|CSN2|P|Casein, beta||115460|Psh||||||5(Csn2)|| 4.2|9|7|90|4pter-q21|SOD3|P|Superoxide dismutase-3, extracellular||185490|REa|||||||| 4.3|1|4|93|4p16.3|ADD1|C|Adducin-1 (alpha)||102680|REa, REb||||||5(Add1)|| 4.4|4|23|96|4p16.3|DAGK4|P|Diacylglycerol kinase (110kD)||601207|REc, H||||||5(Dagk4)|| 4.5|1|23|96|4p16.3|DFNA6|P|Deafness, autosomal dominant 6||600965|Fd|||Deafness, autosomal dominant 6 (2)||||| 4.6|2|28|94|4p16.3|DRD1B|P|Dopamine receptor D1B||126448|A||||||5(Drd1b)|| 4.7|10|7|96|4p16.3|FGFR3, ACH|C|Fibroblast growth factor receptor-3||134934|REn, Fd|||Achondroplasia, 100800 (3); Hypochondroplasia, 146000 (3);|Thanatophoric dwarfism, types I and II, 187600 (3); Crouzon syndrome|with acanthosis nigricans (3); Craniosynostosis, nonsyndromic (3)|5(Fgfr3)|| 4.8|12|13|95|4p16.3|GPRK2L, GPRK4|P|G protein-coupled receptor kinase-2 (Drosophila)-like||137026|RE, H||||||5(Gprk2l)|| 4.9|4|15|93|4p16.3|HD, IT15|C|Huntingtin||143100|Fd|distal to D4S10||Huntington disease (3)|||5(Hdh)|| 4.10|7|14|94|4p16.3|IDUA, IDA|P|Iduronidase, alpha-L-||252800|REa, A, S|||Mucopolysaccharidosis Ih (3); Mucopolysaccharidosis Is (3);|Mucopolysaccharidosis Ih/s (3)||5(Idua)|| 4.11|11|6|94|4p16.3|LRPAP1, A2MRAP|C|Low density lipoprotein-related protein-associated protein 1|(alpha-2-macroglobulin receptor-associated protein 1)|104225|A, REn|?involved in Wolf-Hirschhorn syndrome||||||| 4.12|3|22|93|4p16.3|MYL5|P|Myosin, light polypeptide-5, regulatory||160782|RE|||||||| 4.13|1|23|97|4p16.3|PDE6B, PDEB, CSNB3|C|Phosphodiesterase 6B, cGMP-specific, rod, beta||180072|REa, A, Fd|||Night blindness, congenital stationary, type 3, 163500 (3)|||5(Pdeb, rd)|| 4.14|1|13|93|4p16.3|WHCR|C|Wolf-Hirschhorn syndrome chromosome region||194190|Ch|||Wolf-Hirschhorn syndrome (2)||||Altherr (1991); Anvret (1991)| 4.15|11|4|93|4p16.3|ZNF141, D4S90|P|Zinc finger protein-141 (clone pHZ-44)||194648|Psh, A, Ch|?involved in Wolf-Hirschhorn syndrome||||||| 4.16|9|9|96|4p16.1|HMX1, H6|P|Homeo box (H6 family) 1||142992|Psh, Fd|||||||| 4.17|9|2|96|4p16.1|MSX1, HOX7|C|msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)||142983|REa, A, D, Fd|||?Wolf-Hirschhorn syndrome, 194190 (3); Tooth agenesis, selective,|106600 (3)||5(Hox7)|| 4.18|10|28|96|4p16.1|WFRS|C|Wolfram syndrome||222300|Fd|multiple mtDNA deletions||Wolfram syndrome (2)||||| 4.19|2|28|94|4p16.1-p15.3|DRD5|C|Dopamine receptor D5||126453|REa, A, REc, R, Psh, Fd|pseudogenes on 2p11 and 1q21|||||5(Drd5)|| 4.20|7|8|95|4p16|CRSA, CRS3|P|Craniosynostosis, Adelaide type||600593|Fd|||Craniosynostosis, Adelaide type (2)||||| 4.21|9|30|95|4p16|EVC|P|Ellis-van Creveld syndrome||225500|Fd|||Ellis-van Creveld syndrome (2)||||| 4.22|7|8|95|4p16|S100P|P|S100 calcium-binding protein P||600614|A|||||||| 4.23|1|12|93|4p16-p14|CDPR|L|Chondrodysplasia punctata, rhizomelic||215100|Ch|||?Chondrodysplasia punctata, rhizomelic (2)||||Dimmick (1991)| 4.24|5|9|95|4p15|CD38|P|CD38 antigen (p45); ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase||107270|S, A|||||||| 4.25|4|30|91|4p15.31|QDPR, DHPR|C|Quinoid dihydropteridine reductase||261630|S, A, REa, D|||Phenylketonuria due to dihydropteridine reductase deficiency (3)|||5(Qdpr)|| 4.26|12|18|91|4p15-qter|EIF4EL1|P|Eukaryotic translation initiation factor 4E-like-1||133440|Psh|?pseudogene on 20||||||| 4.27|8|8|91|4p14|UCHL1|P|Ubiquitin C-terminal esterase L1||191342|A, Psh|||||||| 4.28|3|5|95|4p14-p13|RFC1, RECC1|C|Replication factor C (activator 1) 1 (145kD)||102579|A||||||5(Rfc1)|| 4.29|5|16|95|4p14-q12|GABRA4|P|Gamma-aminobutyric acid (GABA) A receptor, alpha-4||137141|Psh|cluster with GABRA2, B1, G1|||||7(Gabra4)|| 4.30|10|23|87|4p14-q12|PGM2|C|Phosphoglucomutase-2||172000|S||||||5(Pgm1)|| 4.31|11|13|95|4p14-q13|CNCG1|C|Cyclic nucleotide gated channel (photoreceptor), cGMP gated 1|(alpha)|123825|REa, Psh|||Retinitis pigmentosa, autosomal recessive (3)|||5(Cncg)|| 4.32|1|30|91|4p14-q21|BMP3|P|Bone morphogenetic protein-3||112263|H, REa||||||5(Bmp3)|| 4.33|8|21|92|4p14-q21.1|GABRG1|P|Gamma-aminobutyric acid (GABA) A receptor, gamma-1||137166|Psh, REl|||||||| 4.34|7|11|93|4p13-p12|GABRA2|P|Gamma-aminobutyric acid (GABA) A receptor, alpha-2||137140|A||||||5(Gabra2)|| 4.35|7|11|93|4p13-p12|GABRB1|P|Gamma-aminobutyric acid (GABA) A receptor, beta-1||137190|A, Fd||||||5(Gabrb1)|| 4.36|3|5|95|4p13-q12|TAPVR1|P|Total anomalous pulmonary venous return||106700|Fd|?mutation in KDR||Total anomalous pulmonary venous return (2)||||| 4.37|12|13|95|4p12|TEC|P|tec protein tyrosine kinase||600583|A|||||||| 4.38|10|12|94|4p12|TXK, BTKL|C|TXK tyrosine kinase||600058|A||||||5(Txk)|| 4.39|10|6|92|4p12-q13|PPBP, TGB1|C|Pro-platelet basic protein (beta-thromboglobulin, connective tissue|tissue-activating peptide III, neutrophil-activating peptide-2)|121010|Psh, A, REn|less than 7kb from PF4||||||| 4.40|10|23|87|4p11-q12|PEPS|C|Peptidase S||170250|S, EM||||||5(Pep7)|| 4.41|10|23|87|4cen-q21|MT2P1|C|Metallothionein 2 pseudogene 1 (processed)||156340|REa, A, F|||||||| 4.42|1|27|97|4q|M4S1|P|Membrane component, chromosomal 4, surface marker (35kD glycoprotein)||600718|REA|||||||| 4.43|10|8|96|4q|PSORS3|P|Psoriasis susceptibility 3||601454|Fd|||{Psoriasis susceptibility 3} (3)||||| 4.44|10|12|94|4q11-q13|AFM, ALBA, ALB2|C|Afamin||104145|REn, Psh|10kb 3' of AFP||||||| 4.45|11|16|90|4q11-q13|AFP, HPAFP|C|Alpha-fetoprotein||104150|H, A, Fd, F|order: 5'-ALB-3'--5'-AFP-3'||[AFP deficiency, congenital] (1); [Hereditary persistence of|alpha-fetoprotein] (3)||5(Afp)|| 4.46|10|23|87|4q11-q13|ALB|C|Albumin||103600|F, A, REa|linked to GC||Analbuminemia (3); [Dysalbuminemic hyperthyroxinemia] (3);|[Dysalbuminemic hyperzincemia] (3)||5(Alb1)|| 4.47|9|14|88|4q11-q13|JPD|P|Periodontitis, juvenile||170650|F|linked to GC, which is probably between DGI1 and JP||Periodontitis, juvenile (2)||||| 4.48|10|23|87|4q11-q13|STATH|P|Statherin||184470|REa|||||||| 4.49|4|18|97|4q11-q21|AIH2|P|Amelogenesis imperfecta 2, hypocalcification (autosomal dominant)||104500|Fd, REc|||Amelogenesis imperfecta-2, hypoplastic local type (2)||||| 4.50|2|2|90|4q12|GC, DBP|C|Group-specific component (vitamin D-binding protein)||139200|F, Fc, H, D, Ch, REa, A|4q13-q21.1 by in situ hybridization|||||5(Gc)|| 4.51|11|2|95|4q12|LGMD2E, SCG2|C|Limb-girdle muscular dystrophy, type 2E (sarcoglycan, beta-)||600900|Psh, A, Fd, LD|||Muscular dystrophy, limb-girdle, type 2E (3)||||| 4.52|3|5|95|4q12|KDR|C|Kinase insert domain receptor||191306|REa, A, REn|?mutant in TAPVR1||||||| 4.53|12|17|95|4q12|KIT, PBT|C|Hardy-Zuckerman 4 feline sarcoma (v-kit) oncogene||164920|REa, A, H, Ch, H, REn|same 700bp segment as PDGFRA||Piebaldism (3); Mast cell leukemia (3); Mastocytosis with associated|hematologic disorder (3)||5(Kit; W)|| 4.54|6|16|94|4q12|PAICS, AIRC|P|Phosphoribosylaminoimidazole carboxylase||172439|S, REn|bifunctional enzyme; ade-D; 625bp from PPAT||||||| 4.55|1|25|91|4q12|PDGFRA|C|Platelet-derived growth factor receptor, alpha polypeptide||173490|A, REa, REn|same 700bp segment as KIT|||||5(Pdgfra)|| 4.56|5|2|94|4q12|POL2RB|P|Polymerase (RNA) II (DNA directed) polypeptide B (140kD)||180661|A|||||||| 4.57|6|16|94|4q12|PPAT, GPAT|P|Phosphoribosylpyrophosphate amidotransferase||172450|S, H, A|||||||| 4.58|10|6|92|4q12-q13|PF4|C|Platelet factor 4||173460|REa, A, REn|6kb from PF4V1||||||| 4.59|10|6|92|4q12-q13|PF4V1|C|Platelet factor 4, variant 1 (PF4-like)||173461|A, REa, REn|same region as PF4 and IP10||||||| 4.60|10|6|92|4q12-q13|TGB2|P|Thromboglobulin, beta-2||188035|REn|in cluster with PPBP, PF4, and PF4V1||||||| 4.61|10|15|94|4q12-q13.3|CENPC|P|Centromere autoantigen C (140kD)||117141|A|?pseudogene on chr.12|||||5(Cenpc)|| 4.62|3|29|90|4q13|HTN1|P|Histatin-1||142701|REa, A|3 genes in a 15kb segment||||||| 4.63|5|14|90|4q13|HTN2|P|Histatin-2||142702|REa, A|||||||| 4.64|1|2|95|4q13|UGT2B4|C|UDP-glucuronyltransferase (steroid metabolizing), 4||600067|Psh, REn, A|cluster in order B9--B4--B15 in 195kb|||||5(Ugt2b4)|| 4.65|1|2|95|4q13|UGT2B9|P|UDP-glucuronyltransferase-2B (steroid metabolizing), 9||600218|Psh, REn, A|||||||| 4.66|1|2|95|4q13|UGT2B15|P|UDP-glucuronyltransferase-2B (steroid metabolizing), 15||600219|Psh, REn, A|||||||| 4.67|6|8|89|4q13-q21|AREG|P|Amphiregulin||104640|REa, A||||||5(Areg)|| 4.68|10|1|95|4q13-q21|BTC|L|Betacellulin||600345|H|tightly linked to Areg in mouse|||||5(Btc)|| 4.69|10|23|87|4q13-q21|DGI1|C|Dentinogenesis imperfecta-1||125490|F, Fd|~11cM from GC||Dentinogenesis imperfecta-1 (2)||||| 4.70|6|8|95|4q13-q21|ENA78|P|Neutrophil-activating peptide ENA-78||600324|A|||||||| 4.71|6|4|89|4q13-q21|IL8|P|Interleukin-8||146930|REa, A|||||||| 4.72|11|20|95|4q13.1|STE, EST|P|Sulfotransferase, estrogen-preferring||600043|Psh, A|||||||| 4.73|9|12|93|4q13.3-q21.1|DCK|C|Deoxycytidine kinase||125450|Psh, A|||||||| 4.74|3|7|92|4q16.1|ADRA2C, ADRA2L2|C|Adrenergic, alpha-2C-, receptor||104250|REa, Fd|linked to D4S10||||||| 4.75|6|8|95|4q2-q3|CLTB|P|Clathrin, light polypeptide (Lcb)||118970|REa, A|||||||| 4.76|4|18|97|4q21|AMBN|C|Ameloblastin||601259|||||||5(Ambn)|| 4.77|6|6|91|4q21|ANX3|P|Annexin III (lipocortin III)||106490|Psh, REa, A|||||||| 4.78|2|18|96|4q21|DMP1|P|Dentin matrix acidic phosphoprotein||600980|Fd, REn, Psh|?mutant in DGI1||||||| 4.79|7|5|92|4q21|FGF5|C|Fibroblast growth factor-5||165190|REa, A||||||5(Fgf5)|| 4.80|12|4|90|4q21|GRO1, MGSA|C|GRO1 oncogene (melanoma growth-stimulating activity)||155730|REa, A|apparently cluster of 3 GRO genes|||||5(Mgsa)|| 4.81|8|22|91|4q21|GRO2, MIP2A|P|GRO2 oncogene||139110|REa, A||||||5(Mip2a)|| 4.82|8|22|91|4q21|GRO3, MIP2B|P|GRO3 oncogene||139111|REa, A||||||5(Mip2b)|| 4.83|3|27|89|4q21|IGJ|P|Immunoglobulin J polypeptide, linker protein for||147790|REa, A|||?Leukemia, acute lymphocytic, with 4/11 translocation (3)|||5(Igj)|| 4.84|10|23|87|4q21|INP10|C|Interferon-inducible cytokine IP-10||147310|A, REa, F|?involved in monocytic leukemia with t(4;11)(q21;q23)||||||| 4.85|7|11|93|4q21|MLLT2, AF4|P|Myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila)|homolog), translocated to, 2|159557|Ch|fuses with ALL1||||||| 4.86|10|23|87|4q21-q23|GNPTA|P|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosamine|phosphotransferase|252500|F, S, D|||Mucolipidosis II (1); Mucolipidosis III (1)||||| 4.87|1|8|97|4q21-q23|PARK1|P|Parkinson disease, familial-1||601508|Fd|||Parkinson disease, familial-1 (2)||||| 4.88|7|8|96|4q21-q23|PKD2, PKD4|C|Polycystic kidney disease-2 (autosomal dominant)||173910|Fd|||Polycystic kidney disease, adult, type II (3)||||| 4.89|10|23|87|4q21-q24|FDH|C|Formaldehyde dehydrogenase||136490|S|4q24-qter (M. Smith)||||||| 4.90|9|9|90|4q21-q25|ADH5|C|Alcohol dehydrogenase (class III), chi polypeptide||103710|S, REa|||||||| 4.91|9|12|93|4q21-q25|FECB|L|Fecundity gene, Boorla, of sheep, homolog of||134720|H|sheep chr.6||||||| 4.92|2|18|96|4q21-q25|IBSP|C|Integrin-binding sialoprotein (bone sialoprotein II)||147563|REa, A||||||5(Ibsp)|| 4.93|12|13|95|4q21-q25|RAP1GDS1|P|RAP1, GTP-GDP dissociation stimulator 1||179502|A, REa|||||||| 4.94|1|27|97|4q21-q25|SPP1, OPN|C|Secreted phosphoprotein-1 (osteopontin, bone sialoprotein)||166490|REa, REc||||||5(Spp1)|| 4.95|9|15|96|4q21.1-q21.2|AUF1, AUF1A|P|AU-rich element RNA-binding protein 1, 37kD||601324|REa, A|||||||| 4.96|5|9|95|4q21.2|GNRHR|C|Gonadotropin-releasing hormone receptor||138850|REa, A, Psh|placed at 4q12 or 4q13 by some|||||5(Gnrhr)|| 4.97|1|22|97|4q21.3|PTPN13|P|Protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95|(Fas)-associated phosphatase)|600267|A, Psh|||||||| 4.98|5|9|95|4q21.3-q22|SCNA, NACP|C|Synuclein, alpha (non A4 component of amyloid precursor)||163890|Psh, A|||||||| 4.99|10|7|88|4q22|ADHC1@|C|ALCOHOL DEHYDROGENASE, CLASS I, CLUSTER|||REa, REb, A|ADH1,ADH2,ADH3 loci for alpha, beta, and gamma chains|||||3(Adh1,3)|| 4.100|9|14|89|4q22|ADH1|C|Alcohol dehydrogenase (class I), alpha polypeptide||103700|REa|||||||| 4.101|9|14|89|4q22|ADH2|C|Alcohol dehydrogenase (class I), beta polypeptide||103720|REa|||||||| 4.102|9|14|89|4q22|ADH3|C|Alcohol dehydrogenase (class I), gamma polypeptide||103730|REa|||||||| 4.103|11|6|89|4q22|ADH4|P|Alcohol dehydrogenase (class II), pi polypeptide||103740|REa, A|||||||| 4.104|10|17|96|4q22|ATH1|P|Atonal (drosophila) homolog 1||601461|REa, A|||||||| 4.105|1|2|91|4q22-q23|PDHA2|P|Pyruvate dehydrogenase, E1-alpha polypeptide, testis specific|form|179061|REa||||||19(Pdhal)|| 4.106|1|3|96|4q22-q24|MTP|P|Microsomal triglyceride transfer protein (large polypeptide, 88kD)||157147|Psh, A|||Abetalipoproteinemia, 200100 (3)|||3(Mtp)|| 4.107|1|8|97|4q22-q26|SCHAD|P|L-3-hydroxyacyl-CoA dehydrogenase, short chain||601609|A|||||||| 4.108|12|19|96|4q23-q24|ADH7|P|Alcohol dehydrogenase-7||600086|A|||||||| 4.109|10|4|93|4q23-q24|NFKB1|C|Nuclear factor of kappa light chain gene enhancer in B-cells 1 (p105)||164011|REa, A|||||||| 4.110|8|11|91|4q23-q25|LEF1|P|Lymphoid enhancer-binding factor-1||153245|REa, A||||||3(Lef1)|| 4.111|4|7|94|4q24|H2AZ|P|H2AZ histone||142763|REa, A|||||||| 4.112|1|2|95|4q24-q25|CENPE|P|Centromere autoantigen E (312kD)||117143|A|||||||| 4.113|6|4|89|4q25|EGF|C|Epidermal growth factor||131530|REa, H, F, RE|linked to ADH3; cen-ADH3-EGF-IL2-qter|||||3(Egf)|| 4.114|4|1|96|4q25|IF|C|I factor (complement)||217030|REa, Fd, A, RE|40kb distal to EGF||C3b inactivator deficiency (3)||||| 4.115|8|30|95|4q25|IHGA|P|Iris hypoplasia with early onset glaucoma, autosomal dominant||137600|Fd|?allelic to Rieger syndrome||Iris hypoplasia with glaucoma, autosomal dominant (2)||||| 4.116|12|3|96|4q25-q26|RIEG, RIEG1, RGS|C|Solurshin (RIEG bicoid-related homeobox transcription factor)||601542|Ch, Fd, RE|||Rieger syndrome, type I, 180500 (3)||||| 4.117|6|7|91|4q25-q27|ANK2|C|Ankyrin-2, nonerythrocytic||106410|REa, A|||||||| 4.118|7|5|92|4q25-q27|FGF2, FGFB|C|Fibroblast growth factor-2 (basic)||134920|REa, A|many alternate names|||||3(Fgf2)|| 4.119|11|7|95|4q25-q27|LQT4|P|Long QT syndrome, type 4||600919|Fd|||Long QT syndrome, type 4, with sinus bradycardia (2)||||| 4.120|9|28|96|4q26|CGT|P|UDP-galactose ceramide galactosyltransferase (cerebroside|synthase)|601291|Psh, A|||||||| 4.121|7|9|90|4q26-q27|IL2|C|Interleukin-2||147680|REa, A, F|||Severe combined immunodeficiency due to IL2 deficiency (1)|||3(Il2)|| 4.122|2|9|92|4q26-q28|ANX5, ENX2|C|Annexin V (endonexin II)||131230|REa, A, D|||||||| 4.123|8|24|92|4q27|CCNA, CCN1|C|Cyclin A||123835|A||||||3(Cyca)|| 4.124|4|26|92|4q28|FGC@|C|FIBRINOGEN GENE CLUSTER|||RE, REa, D, LD|likely order: gamma-alpha-beta||||||| 4.125|3|22|93|4q28|FGA|C|Fibrinogen, alpha polypeptide||134820|RE, REa, H, D, LD, A|||Dysfibrinogenemia, alpha type (3); Amyloidosis, hereditary renal,|105200 (3)|||| 4.126|5|17|91|4q28|FGB|C|Fibrinogen, beta polypeptide||134830|RE, REa, D, LD, A|4q31 by A; proximal to GYPB/GYPA||Dysfibrinogenemia, beta type (3)||||| 4.127|5|17|91|4q28|FGG|C|Fibrinogen, gamma polypeptide||134850|F, REa, H, RE, D, LD, A|linked to MN||Dysfibrinogenemia, gamma type (3); Hypofibrinogenemia, gamma|type (3)||3(Fgg)|| 4.128|10|23|87|4q28-q31|ASMD|P|Anterior segment mesenchymal dysgenesis||107250|F|linked to MN||Anterior segment mesenchymal dysgenesis (2)||||| 4.129|12|21|87|4q28-q31|FABP2|P|Fatty acid-binding protein, intestinal||134640|REa, A||||||3(Fabpi)|| 4.130|12|19|90|4q28-q31|GYPB, SS, MNS|C|Glycophorin B (includes Ss blood group)||111740|F, Fc, AAS, EM|||||||| 4.131|4|30|91|4q28-q31|GYPE, GPE|P|Glycophorin E||138590|REn, A|tandem: 5'-GYPA-GYPB-GYPE-3'; ?4q31.1||||||| 4.132|4|10|90|4q28-q31|HCL2, RHC|P|Red hair color||266300|F|||||||| 4.133|10|23|87|4q28-q31|SF|C|Stoltzfus blood group||111800|F|~25cM from MNSs||||||| 4.134|1|1|96|4q28-q31|TYS|P|Sclerotylosis||181600|F|?linked to MNSs||Sclerotylosis (2)||||| 4.135|10|18|91|4q28.2-q31.1|GYPA, MN, GPA|C|Glycophorin A (includes MN blood group)||111300|F, Fc, AAS, EM, A, D, Fc|male lod = 3.79 at theta 0.32 vs. GC; probably 4q28.2-q31.1||||||| 4.136|4|25|96|4q31|HMG2|P|High-mobility group (nonhistone chromosomal) protein 2||163906|A|||||||| 4.137|6|13|95|4q31|IL15|P|Interleukin 15||600554|A|||||||| 4.138|2|20|97|4q31|NPY2R|P|Neuropeptide Y receptor Y2||162642|REa, A|||||||| 4.139|4|22|96|4q31|RNS4I|P|Ribonuclease 4 (2', 5'-oligoisoadenylate synthetase||601213|A|||||||| 4.140|3|18|91|4q31|UCP|P|Uncoupling protein||113730|A||||||8(Ucp)|| 4.141|10|2|89|4q31-q32|TDO2, TPH2, TRPO|C|Tryptophan oxygenase||191070|REa, A|||||||| 4.142|1|15|96|4q31.1|MLR, MCR|C|Mineralocorticoid receptor (aldosterone receptor)||600983|REa, M, A|||||||| 4.143|2|28|94|4q31.2|BRN3B|P|Brn3b POU domain transcription factor||113725|REa, A|||||||| 4.144|6|10|94|4q31.3-q32|NPY1R|P|Neuropeptide Y receptor||162641|A|||||||| 4.145|10|12|94|4q32|GUC1A3, GUCSA3|P|Guanylate cyclase 1, soluble, alpha 3||139396|A|||||||| 4.146|1|11|95|4q32|GKP3, GK3|P|Glycerol kinase pseudogene 3||600149|A|||||||| 4.147|10|12|94|4q32|GUC1B3, GUCSB3|P|Guanylate cyclase 1, soluble, beta 3||139397|A|||||||| 4.148|6|22|94|4q32-q33|AGA|C|Aspartylglucosaminidase||208400|S, F, D, A|||Aspartylglucosaminuria (3)|||8(Aga)|| 4.149|3|1|94|4q32-q33|GRIA2, GLUR2|C|Glutamate receptor, ionotropic, AMPA 2||138247|Psh, A||||||3(Glur2)|| 4.150|6|11|93|4q32-qter|ETFDH|P|Electron transfer flavoprotein:ubiquinone oxidoreductase||231675|REa, A|||Glutaricacidemia, type IIC (3)|||3(Etfdh)|| 4.151|4|10|90|4q32.1|HVBS6|P|Hepatitis B virus integration site-6||142380|REa, A, D|||Hepatocellular carcinoma (3)||||| 4.152|9|28|96|4q34|GPM6A, M6A|P|Glycoprotein M6A||601275|A|||||||| 4.153|2|18|96|4q34-q35|FACL2|C|Fatty-acid-Coenzyme A ligase, long-chain 2||152426|REb, A|||||||| 4.154|2|18|96|4q34-q35|FAT|P|FAT tumor suppressor (Drosophila) homolog||600976|A|||||||| 4.155|2|24|97|4q34-q35|HPGD|P|Hydroxyprostaglandin dehydrogenase 15-(NAD)||601688|REa, A|||||||| 4.156|8|24|92|4q35|ANT1|C|Adenine nucleotide translocator-1 (skeletal muscle)||103220|REa, REb, A, Fd||||||8(Ant1)|| 4.157|2|9|92|4q35|F11|C|Coagulation factor XI (plasma thromboplastin antecedent)||264900|A, H, Fd|not closely linked to MNS||Factor XI deficiency (3)|||8(cf11)|| 4.158|10|4|96|4q35|FSG1, FRG1|P|FSHD region gene 1||601278|REn|||||||| 4.159|5|2|94|4q35|FSHMD1A, FSHD|C|Facioscapulohumeral muscular dystrophy 1A||158900|Fd|||Facioscapulohumeral muscular dystrophy 1A (2)|||?8(myd)|| 4.160|2|9|92|4q35|HSPCAL2|P|Heat shock 90kD protein, alpha-like 2||140574|REa, A|?functional||||||| 4.161|4|30|91|4q35|KLK3|P|Kallikrein, plasma (Fletcher factor)||229000|A|similar to F11||Fletcher factor deficiency (1)|||8(Kal3)|| 4.162|11|4|93|4q35.1|IRF2|P|Interferon regulatory factor-2||147576|A|||||||| 4.163|10|22|95|4q35.1|MTNR1A|P|Melatonin receptor 1A||600665|REa, Psh||||||8(Mtnr1a)|| 4.164|12|17|87|Chr.4|ATP1BL1|P|ATPase, Na+K+ transporting, beta-1 polypeptide-like||182370|REa|||||||| 4.165|8|22|94|Chr.4|CCKAR|C|Cholecystokinin A receptor||118444|Psh, H|?on 4p16.2-p15.1 by H|||||5(Cckar)|| 4.166|6|13|95|Chr.4|CLCN3|P|Chloride channel-3||600580|REa|||||||| 4.167|9|12|93|Chr.4|COX7A2|P|Cytochrome c oxidase subunit VIIa polypeptide-2 (liver)||123996|REa|||||||| 4.168|9|11|95|Chr.4|CPE|P|Carboxypeptidase E||114855|REa, H||||||8(Cpe)|| 4.169|2|13|92|Chr.4|EDNRA|C|Endothelin receptor type A||131243|REa|||||||| 4.170|1|25|91|Chr.4|GTA, GGTB1|P|Galactosyltransferase activator||137061|REa|||||||| 4.171|1|9|94|Chr.4|LAG5|P|Leukocyte antigen group 5||151450|S|||Neutropenia, neonatal alloimmune (1)||||| 4.172|10|4|91|Chr.4|MDF1|P|Antigen identified by monoclonal antibody A-3A4||107253|S|||||||| 4.173|10|21|96|Chr.4|MANBA|L|Mannosidase, beta A, lysosomal||248510|H|linked in mouse to Adl-3||?Mannosidosis, beta- (1)|||3(Bmn)|| 4.174|10|19|88|Chr.4|PDE1A|P|Phosphodiesterase-1A||171890|S|||||||| 4.175|4|21|97|Chr.4|PPID|P|Peptidylprolyl isomerase D (cyclophilin D)||601753|REa|||||||| 4.176|6|10|94|Chr.4|PPP3CA, PPP2B, CALNA, CNA1|C|Protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform|(calcineurin A alpha)|114105|REa|||||||| 4.177|2|11|93|Chr.4|SEN, CSRB|P|Senescence (cellular)-related||116960|M|||||||| 4.178|10|23|87|Chr.4|TS13|P|Temperature sensitivity complementation, ts13||187320|S|||||||| 4.179|1|2|95|Chr.4|UGT2B8|P|UDP-glucuronosyltransferase-2B (steroid metabolizing), 8||600069|Psh|prob. in cluster with other UGT2B genes in 4q13||||||| 5.1|10|23|87|5pter-q11|RARS|P|Arginyl-tRNA synthetase||107820|S|very close to LARS||||||| 5.2|1|11|93|5p15.3|ADCY2|C|Adenylyl cyclase-2, brain||103071|A, REa||||||13(Adcy2)|| 5.3|11|28|94|5p15.3|SLC6A3, DAT1|C|Solute carrier family 6 (neurotransmitter transporter, dopamine),|member 3|126455|Psh, A, Fd||||||13(Dat1)|| 5.4|3|28|95|5p15.3|SLC9A3, NHE3|C|Solute carrier family 9 (sodium/hydrogen exchanger), isoform 3||182307|REa, Fd|pseudogene on chr.10||||||| 5.5|1|4|96|5p15.2|DAP|P|Death-associated protein||600954|REa|||||||| 5.6|11|12|96|5p15.1-p14.3|MYO10|P|Myosin X||601481|A||||||15(Myo10)|| 5.7|11|2|95|5p15|SDH2, SDHF|P|Succinate dehydrogenase 2, flavoprotein (Fp) subunit||600857|A|copy on 3q29||Leigh syndrome (3)||||| 5.8|12|9|91|5p15|SRD5A1|P|Steroid 5-alpha-reductase||184753|REa, A|pseudogene on X|||||13(Srd5a1)|| 5.9|8|15|90|5p14|MLVI2|P|Moloney leukemia virus integration site-2||157960|REa, A||||||15(Mlvi2)|| 5.10|3|18|94|5p14|PMCHL1|P|Pro-melanin-concentrating hormone-like 1||176793|REa, A|||||||| 5.11|9|14|95|5p14-p13|CDH12, CDHB|P|Cadherin 12 (N-cadherin 2)||600562|A|pseudogene on 5q13 in SMA region||||||| 5.12|10|23|87|5p14-p13|HMGCS1|C|3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1||142940|S, REa, A|like HMGCR, regulated transcriptionally by steroid;|?2 genes closely situated|||||| 5.13|9|14|89|5p14-p13|ZNF4|P|Zinc finger protein-4||194520|REa, A|||||||| 5.14|1|1|96|5p14-p12|NPR3, ANPRC|P|Natriuretic peptide receptor C||108962|REa, A|||?Hypertension, salt-resistant (1)||||| 5.15|1|9|96|5p13.1|PTGER2|P|Prostaglandin E receptor 2, EP2 subtype||176804|H, A||||||15(Ptgerep2)|| 5.16|10|14|95|5p13.1-p12|GDNF|C|Glial cell line derived neurotrophic factor||600837|A, Psh|||||||| 5.17|6|21|91|5p13|C6|C|Complement component-6||217050|A, H, RE, Fd, LD|linked to C7 in dog, marmoset||C6 deficiency (1); Combined C6/C7 deficiency (1)|||15(C6)|| 5.18|6|21|91|5p13|C7|C|Complement component-7||217070|A, H, RE, Fd, LD|linked to C6 in dog, marmoset||C7 deficiency (1)|||15(C7)|| 5.19|6|21|91|5p13|C9|C|Complement component-9||120940|REa, A, Fd, LD|cluster MACII with C6, C7||C9 deficiency (1)||||| 5.20|4|30|96|5p13|DOC2|P|Differentially expressed in ovarian cancer-2||601236|A, REa|||||||| 5.21|2|11|93|5p13|IL7R|P|Interleukin-7 receptor||146661|REa, A|||||||| 5.22|1|26|97|5p13|SCOT, OXCT|P|Succinyl CoA:3-oxoacid CoA transferase||601424|A|||Hyperketonemia with episodic severe ketoacidosis, 245050 (3)||||| 5.23|9|23|96|5p13|SKP2|P|S-phase kinase-associated protein 2 (p45)||601436|A|||||||| 5.24|1|8|95|5p13|SLC1A3, EAAT1|C|Solute carrier family 1 (glial high affinity glutamate transporter),|member 3|600111|A||||||15(Eaat1)|| 5.25|11|20|95|5p13-p12|GHR|C|Growth hormone receptor||600946|REa, A|||Laron dwarfism, 262500 (3); Short stature, idiopathic (3)|||15(Ghr)|| 5.26|12|2|94|5p13-p12|LIFR|P|Leukemia inhibitory factor receptor||151443|REa||||||15(Lifr)|| 5.27|11|7|89|5p13-p12|PRLR|P|Prolactin receptor||176761|REa, A|related to GHR||||||| 5.28|10|23|87|5p13-cen|TARS|P|Threonyl-tRNA synthetase||187790|S|linked to LARS||||||| 5.29|11|25|96|5p|CCAL1|C|Chondrocalcinosis 1 (calcium pyrophosphate-deposition disease, early|onset osteoarthritis)|118600|Fd|||Chondrocalcinosis with early onset osteoarthritis (2)||||| 5.30|2|29|88|5cen-q11|LARS|C|Leucyl-tRNA synthetase||151350|S, H|||||||| 5.31|3|5|95|5q|ISL1|P|ISL1 transcription factor, LIM/homeodomain (islet-1)||600366|Fd|between D5S395 and D5S407; proximal 5q||||||| 5.32|2|15|96|5q|SYT4|L|Synaptotagmin 4||600103|H||||||18(Syt4)|| 5.33|10|1|95|5q11|IL6ST|C|Interleukin 6 signal transducer (gp130, oncostatin M receptor)||600694|A|||||||| 5.34|10|13|94|5q11-q12|CTLA3, HFSP|C|Cytotoxic T-lymphocyte-associated serine esterase-3 (Hanukah factor|serine protease)|140050|REa||||||13(Ctla3)|| 5.35|10|22|96|5q11-q12|MSH3|P|MutS (E. coli) homolog 3||600887|REn|5' to DHFR||Endometrial carcinoma (3)|||13(Msh3)|| 5.36|10|23|87|5q11-q13|ARSB|C|Arylsulfatase B||253200|S|||Maroteaux-Lamy syndrome, several forms (3)|||13(As1)|| 5.37|1|13|93|5q11.2|KFS|L|Klippel-Feil syndrome||214300|Ch|or 17q23||?Klippel-Feil syndrome (2)||||Ohashi (1992)| 5.38|8|15|90|5q11.2-q13|HTR1A|C|5-hydroxytryptamine-1A receptor||109760|REa, A, Fd||||||13(Htr1a)|| 5.39|2|9|92|5q11.2-q13.2|DHFR|C|Dihydrofolate reductase||126060|S, REa, H, D|5q23 = conflicting localization; to other|chrs. with amplification|?Anemia, megaloblastic, due to DHFR deficiency (1)|||13(Dhfr)|| 5.40|3|5|95|5q11.2-q13.3|CRHBP|C|Corticotropin releasing hormone-binding protein||122559|Psh||||||13(Crhbp)|| 5.41|10|12|90|5q11.2-q13.3|SCZD1|L|Schizophrenia disorder-1||181510|Ch, Fd|cosegregation with partial trisomy||?Schizophrenia (2)||||| 5.42|8|24|92|5q12|CCNB1|C|Cyclin B1||123836|A, REa||||||13(Cycb4)|| 5.43|10|13|94|5q12|PDE4D, DPDE3|C|Phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog|phosphodiesterase E3)|600129|REa, A||||||13(Pde4D)|| 5.44|4|24|96|5q12-q13|FKHL8|P|Forkhead (Drosophila)-like 8||601091|A|||||||| 5.45|3|18|94|5q12-q13|PMCHL2|P|Pro-melanin-concentrating hormone-like 2||176794|REa, A|||||||| 5.46|9|14|89|5q12-q13|ZNF5|P|Zinc finger protein-5||194530|REa, A|||||||| 5.47|12|4|95|5q12-q14|CSPG2|C|Chondroitin sulfate proteoglycan-2 (versican)||118661|REa, A, H||||||13(Cspg2)|| 5.48|12|13|95|5q12-q14|EEF1B3|P|Eukaryotic translation elongation factor-1, beta-3||600656|Psh, A|||||||| 5.49|4|21|97|5q12.2-q13.3|GTF2H2|P|General transcription factor IIH, polypeptide 2 (44kD subunit)||601748|REc|2 copies||||||| 5.50|2|9|92|5q12.2-q13.3|SMA|C|Spinal muscular atrophy||253300|Fd|||Werdnig-Hoffmann disease (2); Spinal muscular atrophy II (2);|Spinal muscular atrophy III (2)|||| 5.51|1|6|97|5q12.2-q13.3|NAIP|P|Neuronal apoptosis inhibitory protein||600355|REn|?involved in SMA1|||||13(Naip)|| 5.52|3|3|97|5q12.2-q13.3|SMN1|C|Survival motor neuron 1, telomeric||600354|REn|?involved in SMA1||||||| 5.53|3|3|97|5q12.2-q13.3|SMN2|P|Survival of motor neuron 2, centromeric||601627|REn|||||||| 5.54|11|4|93|5q13|F2R, CF2R|P|Coagulation factor II (thrombin) receptor||187930|A||||||13(Cf2r)|| 5.55|11|13|95|5q13|GPR11, PAR2|P|G-protein-coupled receptor 11||600933|A|||||||| 5.56|8|24|92|5q13|GRB1, PIK3R1|P|Phosphatidylinositol-3 kinase associated p85-alpha||171833|REa, A||||||13(Pik3r1)|| 5.57|10|15|95|5q13|HEXB|C|Hexosaminidase B (beta polypeptide)||268800|S, Ch, D|||Sandhoff disease, infantile, juvenile, and adult forms (3); Spinal|muscular atrophy, HEXB-related (3)||13(Hex2)|| 5.58|3|22|93|5q13|MAP1B|C|Microtubule-associated protein-1B||157129|A, Fd|||||||| 5.59|9|15|96|5q13-q14|WGN1, ERVR|P|Wagner syndrome (erosine vitreoretinopathy)||143200|Fd|||Wagner syndrome (2); Erosine vitreoretinopathy (2)||||| 5.60|7|8|95|5q13-q14|XRCC4|C|X-ray repair, complementing defective, repair in Chinese hamster|cells-4|194363|S, Rea, R|between D5S427 and D5S401||||||| 5.61|9|7|90|5q13-q14.1|CRTL1|P|Cartilage link protein||115435|A|||||||| 5.62|9|5|91|5q13-q23|RPS20A|P|Ribosomal protein S20A||180463|REa|?pseudogene||||||| 5.63|1|2|95|5q13.3|CKMT2|C|Creatine kinase, mitochondrial-2 (sarcomeric)||123295|Psh, A|||||||| 5.64|1|21|97|5q13.3|RASA1, GAP|C|RAS p21 protein activator 1 (GTPase activating protein)||139150|REa, A|||Basal cell carcinoma (3)|||13(Gap)|| 5.65|8|15|90|5q13.3-q14|HMGCR|C|3-hydroxy-3-methylglutaryl coenzyme A reductase;|HMG CoA reductase|142910|REa, A||||||13(Hmgcr)|| 5.66|4|1|96|5q14|GLRX, GRX|P|Glutaredoxin (thioltransferase)||600443|REa, A|||||||| 5.67|11|13|95|5q14|MEF2C|C|MADS box transcription enhancer factor 2, polypeptide C (myocyte|enhancer factor 2C)|600662|A, REa||||||13(mef2c)|| 5.68|12|13|95|5q14|TFCOUP1, ERBAL1|P|Transcription factor COUP 1 (chicken ovalbumin upstream promoter 1,|v-erba homolog-like 3)|600809|A||||||13(Tcfcoup1)|| 5.69|2|28|94|5q14-q21|PAM|P|Peptidylglycine alpha-amidating monooxygenase||170270|REa, A||||||1(Pam)|| 5.70|8|11|91|5q15-q21|CAST|P|Calpastatin||114090|A, REb|||||||| 5.71|8|24|92|5q15-q21|NEC1|P|Neuroendocrine convertase-1 (pro-protein-convertase PC1)||162150|A||||||13(Nec1)|| 5.72|8|21|92|5q21|MCC|C|Mutated in colorectal cancers||159350|REn, D|||Colorectal cancer (3)|||18(Mcc)|| 5.73|8|24|92|5q21-q22|APC, GS, FPC|C|Adenomatous polyposis coli||175100|D, Fd, REn|150kb distal to MCC||Gardner syndrome (3); Polyposis coli, familial (3); Colorectal|cancer (3)||18(Min, Apc)|| 5.74|4|30|91|5q21-q22|FER, TYK3|C|fer (fps/fes related) tyrosine kinase||176942|REa, A||||||11(Fert)|| 5.75|1|17|96|5q21-q22|MANA2|P|Mannosidase, alpha type II||154582|REa, A|||HEMPAS, 224100 (1)||||| 5.76|5|27|93|5q21-q22|SRP19|C|Signal recognition particle 19kD||182175|REn|within 100kb of APC||||||| 5.77|12|4|90|5q21-q23|CAMK4|P|Ca(2+)-calmodulin-dependent protein kinase type IV of brain||114080|REa, A, H||||||18(Camk4)|| 5.78|9|28|96|5q22|U2AF1RS1|P|U2 small nuclear ribonucleoprotein auxiliary factor, small subunit 1||601079|A||||||11(U2af1rs1)|| 5.79|2|27|92|5q22-q23|D5S346, DP1|P|DNA segment, single copy probe LNS-CAI/LNS-CAII (deleted in polyposis|1)|125265|REn|||||||| 5.80|8|24|92|5q22.3-q31.3|LGMD1|P|Limb-girdle muscular dystrophy, autosomal dominant||159000|Fd|||Muscular dystrophy, limb-girdle, autosomal dominant (2)||||| 5.81|11|4|93|5q23|DTS, HBEGF, HEGFL|C|Diphtheria toxin sensitivity (heparin-binding EGF-like growth factor)||126150|S, M|||{Diphtheria, susceptibility to} (1)|||18(Hegfl)|| 5.82|3|18|94|5q23-q31|FBN2, CCA|P|Fibrillin-2||121050|Fd, A|||Contractural arachnodactyly, congenital (3)|||18(Fbn2)|| 5.83|12|16|93|5q23-q31|ITGA2, CD49B, BR|P|Integrin, alpha-2 (CD49B; alpha-2 subunit of VLA-2 receptor; platelet|antigen Br)|192974|S, Psh, A|||Neonatal alloimmune thrombocytopenia (2); ?Glycoprotein Ia deficiency|(2)|||| 5.84|4|7|97|5q23-q31|NEUROD3|P|Neurogenic differentiation 3||601726|A||||||13(Neurod3)|| 5.85|7|11|93|5q23-q31|PPP2CA|P|Protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform||176915|REa, A|||||||| 5.86|10|28|96|5q23-q31|UBE2B, RAD6B|P|Ubiquitin-conjugating enzyme E2B (RAD6 homolog)||179095|A|||?Male infertility (1)||||| 5.87|10|16|95|5q23-q35|ILLBP|P|Ileal lipid-binding protein||600422|H, REa||||||11(Illbp)|| 5.88|11|20|95|5q23.3|SLC12A2, NKCC1|P|Solute carrier family 12 (sodium/potassium/chloride transporters),|member 2|600840|A|||||||| 5.89|4|23|96|5q23.3-q31.1|LMNB1|P|Lamin B1||150340|H, A||||||18(Lmnb)|| 5.90|11|5|92|5q23.3-q31.2|LOX|C|Lysyl oxidase||153455|REa, A||||||18(Lox)|| 5.91|3|22|93|5q31|CDC25C|C|Cell division cycle 25C||157680|A, REn|||||||| 5.92|9|14|95|5q31|CTNNA1|C|Catenin (cadherin-associated protein), alpha 1 (102kD)||116805|A, REa||||||18(Catna1)|| 5.93|6|10|94|5q31|FGF1, FGFA|C|Fibroblast growth factor-1 (acidic)||131220|REa, A, D|||||||| 5.94|8|11|91|5q31|GRL|C|Glucocorticoid receptor, lymphocyte||138040|S, REa, Fd, H, A, D, REn|||Cortisol resistance (3)|||18(Grl1)|| 5.95|3|22|93|5q31|IL13|P|Interleukin-13||147683|REn|||||||| 5.96|11|12|96|5q31|SEPP1|P|Selenoprotein P, plasma, 1||601484|REa, A|||||||| 5.97|10|14|95|5q31|TCEB1L|P|Transcription elongation factor B (SIII), polypeptide 1-like||600847|A|||||||| 5.98|3|3|97|5q31|TGFBI, CSD2, CDGG1, CSD|C|Transforming growth factor, beta-induced, 68kD||601692|REc, Fd|||Corneal dystrophy, Groenouw type I, 121900 (3); Corneal dystrophy,|lattice type I, 122200 (3); Reis-Bucklers corneal dystrophy (3)|||| 5.99|10|12|90|5q31-q32|PDGFRB, PDGFR|C|Platelet-derived growth factor receptor, beta polypeptide||173410|REa, A, REn|between GMCSF and FMS; PDGFRB-3'-500bp-5'-FMS|||||18(Pdgfr)|| 5.100|9|14|95|5q31-q33|CDX1|C|Caudal type homeo box transcription factor 1||600746|REc, H, REn|100kb distal to CSF1R|||||18(Cdx1)|| 5.101|4|24|96|5q31-q33|BHR1|P|Bronchial hyperresponsiveness-1 (bronchial asthma)||600807|Fd|||Bronchial asthma (2)||||| 5.102|12|2|92|5q31-q33|DFNA1, LFHL1|P|Deafness, autosomal dominant 1||124900|Fd|||Deafness, autosomal dominant 1 (2)||||Leon (1981); Leon (1992)| 5.103|10|23|87|5q31-q33|RPS14, EMTB|C|Ribosomal protein S14||130620|S|||||||| 5.104|10|7|96|5q31-q33|SM1|P|Schistosoma mansoni, susceptibility/resistance to||181460|Fd|||{Schistosoma mansoni, susceptibility/resistance to} (2)||||| 5.105|7|11|93|5q31.1|CD14|C|CD14 antigen||158120|REa, A||||||18(Cd14)|| 5.106|7|11|93|5q31.1|CSF2, GMCSF|C|Colony-stimulating factor-2 (granulocyte-macrophage)||138960|REa, A, RE, Fd|order: cen-CSF2-CSF1-FMS-qter|||||11(Csfgm)|| 5.107|7|11|93|5q31.1|EGR1|C|Early growth response-1||128990|REa, A||||||18(Egr1)|| 5.108|7|26|95|5q31.1|IGES|P|Immunoglobulin E concentration, serum||147061|Fd|||?{Allergy and asthma susceptibility} (2)||||| 5.109|7|11|93|5q31.1|IL3|C|Interleukin-3||147740|REa, A, H, RE, D, Fd|9kb from CSF2; order: cen-5'IL3-5'CF2-qter|||||11(Il3)|| 5.110|7|11|93|5q31.1|IL4|C|Interleukin-4||147780|REa, A, RE||||||11(Il4)|| 5.111|3|22|93|5q31.1|IL5|C|Interleukin-5||147850|Ch, A, RE, REn|< 310kb from IL4|||||11(Il5)|| 5.112|7|11|93|5q31.1|IL9|C|Interleukin-9||146931|REa, A||||||13(Il9)|| 5.113|5|14|96|5q31.1|IRF1, MAR|C|Interferon regulatory factor-1||147575|Fd, REa, A, REn, D, Ch|||Macrocytic anemia refractory, of 5q- syndrome, 153550 (3);|Myelodysplastic syndrome, preleukemic (3); Myelogenous leukemia,|acute (3)|11(Irf1)|| 5.114|7|8|95|5q31.1|MOT2|P|Mortalin-2 (perinuclear)||600548|A||||||18,X(mot2)|| 5.115|9|5|91|5q31.1|TCF7|P|Transcription factor-7, T-cell specific||189908|REa, A|originally called TCF-1|||||11(Tcf7)|| 5.116|3|26|96|5q31.1-q31.2|HSPA4|P|Heat shock 70kD protein 4||601113|A|||||||| 5.117|8|24|92|5q31.1-q33.1|GABRG2|C|Gamma-aminobutyric acid (GABA) A receptor, gamma-2||137164|REn, R, Psh|in alpha/beta/gamma cluster||||||| 5.118|8|20|92|5q31.1-q33.1|IL12B, NKSF2|C|Interleukin-12B (natural killer cell stimulatory factor-2, cytotoxic|lymphocyte maturation factor-2, p40)|161561|R, REn, A|between GLR1 and GABRA1|||||11(Il12b)|| 5.119|4|7|94|5q31.1-q35|GABRA6|P|Gamma-aminobutyric acid (GABA) A receptor, alpha-6||137143|REa, Fd|||||||| 5.120|2|3|97|5q31.2|PRKCNH1|P|Protein kinase C inhibitor 1||601640|A|||||||| 5.121|6|10|94|5q31.2-q31.3|MGAT1, GLYT1|C|Mannosyl (alpha-1,3-)-glycoprotein beta-1,2,|N-acetylglucosaminyltransferase|160995|REa, A||||||11(Glyt1)|| 5.122|1|23|97|5q31.2-q34|PDE6A, PDEA|C|Phosphodiesterase 6A, cGMP-specific, rod, alpha||180071|REa, REn, A|||Retinitis pigmentosa, autosomal recessive (3)|||18(Pde6a)|| 5.123|7|11|93|5q31.3-q32|SPARC, ON|C|Osteonectin (secreted protein, acidic, cysteine-rich)||182120|REa, A||||||11(Sparc)|| 5.124|2|28|94|5q31.3-q33.1|GM2A|C|GM2 ganglioside activator protein||272750|S, REa, Psh, A|pseudogene on chr.3||GM2-gangliosidosis, AB variant (3)|||11(Gm2a)|| 5.125|6|10|94|5q32|CD74, DHLAG|C|CD74 antigen (invariant polpypeptide of major histocompatibility|class II antigen-associated)|142790|S, REb, REa, A||||||18(Ii)|| 5.126|7|8|96|5q32|GLRA1, STHE|C|Glycine receptor, alpha 1||138491|Fd, R, A|||Startle disease/hyperekplexia, autosomal dominant, 149400 (3);|Startle disease, autosomal recessive (3); Hyperekplexia and spastic|paraparesis (3)|11(spd)|Ryan (1992a, 1992b)| 5.127|10|13|94|5q32|ITK, EMT|C|T-cell-specific tyrosine kinase; homolog of mouse T-cell itk/tsk|tyrosine kinase|186973|A||||||11(Itk)|| 5.128|1|30|96|5q32-q33.1|DTD, DTDST, D5S1708|C|Diastrophic dysplasia sulfate transporter||222600|Fd, REn|distal to APC||Diastrophic dysplasia (3); Atelosteogenesis II, 256050 (3);|Achondrogenesis Ib, 600972 (3)|||| 5.129|1|30|96|5q32-q33.1|GPX3|C|Glutathione peroxidase 3 (plasma)||138321|REa, REn|||||||| 5.130|6|11|93|5q32-q33.1|TCOF1, MFD1|C|Treacher Collins-Franceschetti syndrome-1||154500|Ch, Fd|prox. to SPARC||Treacher Collins mandibulofacial dysostosis (2)||||| 5.131|12|13|95|5q32-q33.3|HSST|C|Heparan sulfate-N-deacetylase/N-sulfotransferase||600853|REn|||||||| 5.132|6|13|95|5q32-q33.3|MFAP3|P|Microfibrillar-associated protein-3||600491|REa|||||||| 5.133|4|12|92|5q32-q34|ADRB2|C|Adrenergic, beta-2-, receptor, surface||109690|S, REa, A, Fd, RE||||||18(Adrb2)|| 5.134|2|1|90|5q32-q34|ANX6, CBP68|C|Annexin VI (calcium-binding protein p68)||114070|REa, A, REn|||||||| 5.135|7|11|93|5q33|ADRA1B|C|Adrenergic, alpha-1B-, receptor||104220|REa, A, RE||||||11(Adra1)|| 5.136|3|1|94|5q33|GRIA1, GLUR1|C|Glutamate receptor, ionotropic, AMPA 1||138248|A, REa, R||||||11(Glur1)|| 5.137|10|22|96|5q33|SGD|P|Sarcoglyan, delta-||601411|REa, A|||Muscular dystrophy, limb-girdle, type 2F, 601287 (3)||||| 5.138|10|17|96|5q33-q34|LGMD2F|P|Limb girdle muscular dystrophy 2F (autosomal recessive)||601287|Fd|||Limb girdle muscular dystrophy 2F (autosomal recessive) (2)||||| 5.139|10|23|87|5q33-qter|F12, HAF|C|Coagulation factor XII (Hageman factor)||234000|REa, A|||Factor XII deficiency (3)||||| 5.140|12|2|91|5q33-qter|RPS17L1, RPS17A|P|Ribosomal protein S17A-like-1||180461|REa|?pseudogene||||||| 5.141|9|5|91|5q33-qter|RPS20B|P|Ribosomal protein S20B||180464|REa|?pseudogene||||||| 5.142|1|26|97|5q33.1-qter|LCP2, SLP76|P|Lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte|protein of 76kD)|601603|Fd|||||||| 5.143|1|1|96|5q33.2|HMMR|P|Hyaluronan-mediated motility receptor (RHAMM)||600936|REa, H||||||11(hmmr)|| 5.144|1|2|91|5q33.2-q33.3|CSF1R, FMS|C|Colony-stimulating factor-1 receptor; oncogene FMS (McDonough|feline sarcoma)|164770|REa, A|FMS2 is 5' end|||||18(Fim2)|| 5.145|6|13|95|5q34|CSX|C|Cardiac-specific homeo box||600584|A, Psh, REc|near border with 5q35|||||17(Csx)|| 5.146|12|14|95|5q34|DUSP1, CL100, PTPN10|C|Dual specificity phosphatase 1||600714|A, REc|||||||| 5.147|4|24|96|5q34|FKHL10|P|Forkhead (Drosophila)-like 10||601093|A|||||||| 5.148|11|28|94|5q34|SLC2A3P, GLUT3P1, GLUT6|P|Solute carrier family 2 (facilitated glucose transporter), member 3|pseudogene|138240|REa, A|||||||| 5.149|7|5|92|5q34-q35|FLT4|C|fms-related tyrosine kinase 4||136352|A, R||||||11(Flt4)|| 5.150|1|12|95|5q34-q35|GABRB2|P|Gamma-aminobutyric acid (GABA) A receptor, beta 2||600232|Psh|||||||| 5.151|4|7|94|5q34-q35|GABRA1|C|Gamma-aminobutyric acid (GABA) A receptor, alpha-1||137160|A, R, Fd, REn|in same 200kb as GABRG2|||||11(Gabra1)|| 5.152|1|24|95|5q34-q35|MSX2, CRS2, HOX8|C|msh (Drosophila) homeo box homolog 2||123101|Fd, REa, A|||Craniosynostosis, type 2 (3)||||| 5.153|2|28|94|5q35|CANX|P|Calnexin||114217|REa, A|||||||| 5.154|10|23|87|5q35|CHR|C|Chromate resistance (sulfate transport)||118840|S|||||||| 5.155|10|22|95|5q35|GPRK6, GRK6|P|G protein-coupled receptor kinase 6||600869|REa|related locus on chr.13||||||| 5.156|9|28|96|5q35.2|HK3|P|Hexokinase 3 (white cell)||142570|A|||||||| 5.157|9|26|96|5q35|LTC4S|P|Leukotriene C4 synthase||246530|A|||Leukotriene C4 synthase deficiency (1)||||| 5.158|6|29|94|5q35|NPM1|P|Nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin)||164040|Ch, A|fused to ALK in t(2;5)||||||| 5.159|3|18|94|5q35|NPT2|P|Sodium phosphate transport 2||182309|Psh, A|||||||| 5.160|8|24|92|5q35.1|DRD1|C|Dopamine receptor D1||126449|REa, A, Fd, REn, R|same 300kb fragment as GRL||||||| 5.161|8|24|92|5q35.1-qter|FGFR4|C|Fibroblast growth factor receptor-4||134935|REa, A, R|distal to DRD1|||||13(Fgfr4)|| 5.162|3|25|96|5q35.3|HNRPH1|P|Heterogeneous nuclear ribonucleoprotein H||601035|A|||||||| 5.163|9|29|95|Chr.5|CKN1|P|Cockayne syndrome 1 (classical)||216400|Psh|||Cockayne syndrome, type A (3)||||| 5.164|3|6|94|Chr.5|DBN1|P|Drebrin-1||126660|REb|||||||| 5.165|3|29|89|Chr.5|ERBAL3, EAR3|P|ERBA-related gene-3||132890|REb|||||||| 5.166|10|23|87|Chr.5|HARS|P|Histidyl-tRNA synthetase||142810|S|||||||| 5.167|10|16|92|Chr.5|ITGA1, VLA1|L|Integrin, alpha-1||192968|H|close to Ctla-3 in mouse|||||13(Vla1)|| 5.168|6|28|88|Chr.5|SPINK1, PSTI|P|Serine protease inhibitor, Kazal type I (pancreatic secretory trypsin|inhibitor)|167790|REb|||||||| 5.169|4|28|90|Chr.5|TRP3|P|tRNA proline (UGG) 3||189912|REa, A|||||||| 5.170|4|28|90|Chr.5|TRT1|P|tRNA threonine (UGU) 1||189913|REa, A|||||||| 5.171|9|14|89|Chr.5|ZNF3|P|Zinc finger protein-3||194510|REa|?relation to ZNF4, ZNF5||||||| 6.1|10|1|95|6pter-p24|ELANH2, EI|C|Protease inhibitor 2 (anti-elastase), monocyte/neutrophil derived||130135|Psh, R|||||||| 6.2|3|8|91|6pter-p21.1|CLPS|C|Colipase, pancreatic||120105|REa|||||||| 6.3|7|11|91|6pter-p21|DSP|P|Desmoplakin||125647|REa|splice variants result in DP I and DP II||||||| 6.4|8|21|91|6pter-p21|ITPR3|C|Inositol 1,4,5-triphosphate receptor, type 3||147267|REa, A|||||||| 6.5|10|4|91|6pter-q12|NMOR2, NQO2|P|NAD(P)H menadione oxidoreductase-1, dioxin-inducible-2||160998|REa|||||||| 6.6|9|1|95|6p24.3|OFC1, CL|C|Orofacial cleft-1 (cleft lip with or without cleft palate; isolated|cleft palate)|119530|Fd, Ch|linked to F13A||Orofacial cleft-1 (2)||||Eiberg (1987); Donnai (1992)| 6.7|4|24|96|6p25|FKHL7|P|Forkhead (Drosophila)-like 7||601090|A|||||||| 6.8|1|9|96|6p25|PI6|C|Protease inhibitor 6 (placental thrombin inhibitor)||173321|Psh, R, A||||||13(Spi3)|| 6.9|6|4|90|6p25-p24|F13A1, F13A|C|Coagulation factor XIII, A polypeptide||134570|F, Fd, A, D|||Factor XIIIA deficiency (3)||||| 6.10|5|30|91|6p25-p24|ME2|P|Malic enzyme, mitochondrial||154270|F|10cM distal to F13A|||||7(Mod2)|| 6.11|1|26|97|6p24|TFAP2A, AP2TF|C|Transcription factor AP-2 alpha (activating enhancer-binding protein|2 alpha)|107580|||||||13(Tcfap2)|| 6.12|6|6|91|6p24-p23|EDN1|C|Endothelin-1||131240|REa, A, Fd|||||||| 6.13|11|3|92|6p24-p22.3|HIVEP1, ZNF40|P|Human immunodeficiency virus type I enhancer-binding protein-1||194540|REa, A|||||||| 6.14|12|13|96|6p23|ATX1, SCA1|C|Ataxin-1||601556|F, Fd, A|||Spinocerebellar ataxia-1, 164400 (3)|||13(Sca1, Atx1)|| 6.15|6|16|94|6p23|D6S231E, DEK|P|DEK gene||125264|Ch|fused with CAN in t(6;9)||Leukemia, acute nonlymphocytic (2)||||| 6.16|3|18|94|6p23|GMPR|C|Guanine monophosphate reductase||139265|REb, A|||||||| 6.17|8|3|95|6p23|SCZD3|P|Schizophrenia disorder 3||600511|Fd|||Schizophrenia-3 (2)||||| 6.18|6|16|94|6p23|SOX4|P|SRY (sex determining region Y)-box 4||184430|REa, A|||||||| 6.19|3|27|90|6p23-p22.3|FIM1|P|Friend murine leukemia virus integration site 1, homolog of||136750|REa, A||||||13(Fim1)|| 6.20|2|28|94|6p23-p21.3|NPT1|P|Sodium phosphate transport 1 (kidney)||182308|REa|||||||| 6.21|10|23|87|6p23-q12|HYS, MEA|P|H-Y antigen, structural gene for||143170|REb, REa|male enhanced antigen||||||| 6.22|10|23|87|6p23-q12|INSL|P|Insulin-like DNA sequence||147490|REa|||||||| 6.23|9|22|96|6p23-q12|TRMI1, TRM1, RNTMI|P|tRNA methionine initiator-1||180620|REa|2 of 12+ RNTMI genes are on chr. 6||||||| 6.24|6|7|91|6p23-q12|TRM2|P|tRNA methionine initiator-2||180621|REa|||||||| 6.25|9|22|96|6p22.3-p21.1|TRAN|P|tRNA alanine||601431|REa, A|||||||| 6.26|9|22|96|6p22.3-p21.1|TRM1|P|tRNA methionine 1||601433|REa, A|||||||| 6.27|9|22|96|6p22.3-p21.1|TRR3|P|tRNA arginine 3||601432|REa, A|||||||| 6.28|8|15|90|6p22.2-p21.3|PRL|C|Prolactin||176760|REa, D|?between 6cen and GLO1|||||11(Prl)|| 6.29|12|13|95|6p22.2-p21.1|H1F1|P|H1 histone, family 1 (testis-specific)||142709|Psh, A|||||||| 6.30|7|11|93|6p22.2-p21.1|H1F3|C|H1 histone, family 3||142210|A, Psh|||||||| 6.31|2|23|95|6p22|E2F3|P|E2F transcription factor 3||600427|A|||||||| 6.32|6|13|95|6p22-p21.3|ID4|P|Inhibitor of DNA binding 4, dominant negative helix-loop-helix|protein|600581|A|||||||| 6.33|4|7|94|6p22-p21.3|MOG|P|Myelin-oligodendrocyte glycoprotein||159465|A||||||17(Mog)|| 6.34|6|6|91|6p22-p21|BCKDHB, E1B|C|Branched chain keto acid dehydrogenase E1, beta polypeptide||248611|REa, A|||Maple syrup urine disease, type Ib (3)||||| 6.35|12|4|96|6p22-p11|PXAAA1|P|Peroxisomal AAA-type ATPase 1||601498|REa, H|||Peroxisomal biogenesis disorder, complementation group 4 (3)|||17(Pxaaa1)|| 6.36|1|8|95|6p21.31|PPP1R2P|C|Protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene||600100|A|||||||| 6.37|1|11|95|6p21.3|AGER, RAGE|P|Advanced glycosylation end product-specific receptor||600214|RE, A|at junction of classes II, III MHC||||||| 6.38|11|6|92|6p21.3|AS, ANS|P|Ankylosing spondylitis||106300|F, Fd|||Ankylosing spondylitis (2)||||| 6.39|4|27|90|6p21.3|ASD2|P|Atrial septal defect, secundum type||108800|F|lod = 3.612 at theta = 0.0 with HLA||Atrial septal defect, secundum type (2)||||| 6.40|10|23|87|6p21.3|BF|C|Properdin factor B||138470|F, RE|no crossover with C2; less than 1kb from C2, 30kb from C4;|C2, BF, C4A, C4B = class III||||17(Bf)|| 6.41|12|29|89|6p21.3|C2|C|Complement component-2||217000|F, LD, RE|no crossover with BF||C2 deficiency (3)|||17(C2)|| 6.42|4|2|90|6p21.3|C4A, C4S|C|Complement component-4A||120810|F, H, RE, Fd|order: HLA-B, C2, BF, C4A, C4B, CYP21, DR||C4 deficiency (3)|||17(C4)|| 6.43|4|10|90|6p21.3|C4B, C4F|C|Complement component-4B||120820|F, H, RE, Fd|10kb from C4S||C4 deficiency (3)|||17(C4)|| 6.44|3|5|95|6p21.3|COL11A2|C|Collagen XI, alpha-2 polypeptide||120290|REa, A, REn, Fd|45kb centromeric of HLA-DPB2; 3'--5'-cen||Stickler syndrome, type II, 184840 (3); OSMED syndrome, 215150 (3)|||17(Col11a2)|| 6.45|4|10|97|6p21.3|CREBL1|P|cAMP responsive element binding protein-like 1||600984|REc|||||||| 6.46|10|11|96|6p21.3|CSNK2B|C|Casein kinase-2, beta polypeptide||115441|REb, A|||||||| 6.47|5|18|90|6p21.3|CYP21, CA21H|C|Cytochrome P450, subfamily XXI; steroid 21-hydroxylase||201910|F, RE|linked to C2, C4, BF; 2 loci, A and B; only B active||Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (3)|||17(Cyp21)|| 6.48|8|17|92|6p21.3|CYP21P, CYP21A|P|Cytochrome P450, subfamily XXI (steroid 21-hydroxylase)||184754|Fd, REa|||||||| 6.49|1|23|90|6p21.3|D6S51E, BAT2|P|HLA-B associated transcript-2||142580|RE|||||||| 6.50|1|23|90|6p21.3|D6S52E, BAT3|P|HLA-B associated transcript-3||142590|RE|||||||| 6.51|1|23|90|6p21.3|D6S54E, BAT4|P|HLA-B associated transcript-4||142610|RE|||||||| 6.52|1|23|90|6p21.3|D6S81E, BAT1|P|HLA-B associated transcript-1||142560|RE|5 BATs in 160kb segment including also TNFA, TNFB||||||| 6.53|4|10|90|6p21.3|D6S82E, BAT5|P|HLA-B associated transcript-5||142620|RE|||||||| 6.54|3|20|97|6p21.3|D6S207E, HLA-HA2|P|Minor histocompatibility antigen HA-2||600642|REn|||||||| 6.55|9|23|96|6p21.3|D6S2244E, HKE4|P|Ke4 gene, mouse, human homolog of||601416|REl||||||17(Ke4)|| 6.56|9|23|96|6p21.3|D6S2245E, HKE6|P|Ke6 gene, mouse, human homolog of||601417|REl||||||17(Ke6)|| 6.57|1|11|95|6p21.3|DYLX2, DLX2|P|Dyslexia, specific, 2||600202|Fd|||Dyslexia, specific, 2 (2)||||| 6.58|1|12|93|6p21.3|GLYS1|P|Renal glucosuria-1||233100|F|closer to HLA-A than HLA-B||[Renal glucosuria] (2)||||| 6.59|9|14|95|6p21.3|GNL1, HSR1|P|Guanine nucleotide binding protein-like 1||143024|REn|||||||| 6.60|4|21|97|6p21.3|GTF2H4|P|General transcription factor IIH, polypeptide 4||601760|A|||||||| 6.61|10|23|87|6p21.3|HFE|C|Hemochromatosis||235200|LD, F|||Hemochromatosis (2)|||13(Mr2, Hfe)|| 6.62|12|20|96|6p21.3|HXBL, TNX|P|Hexabrachion-like (tenascin-X)||600261|REn|||Ehlers-Danlos-like syndrome (1)||||| 6.63|3|27|90|6p21.3|MHC|C|MAJOR HISTOCOMPATIBILITY COMPLEX|||F, S, A, RE, Ch, D, Fd|class I distal to class II||||||| 6.64|10|23|87|6p21.3|HLA-A|C|HLA-A tissue type||142800|F|HLA-A, -B, -C, -6.0 = class I|||||17(H2)|| 6.65|3|15|91|6p21.3|HLA-B|C|HLA-B tissue type||142830|F, REn|~85kb from HLAC||||||| 6.66|3|15|91|6p21.3|HLA-C|C|HLA-C tissue type||142840|F, REn||||||17(H2L)|| 6.67|5|24|90|6p21.3|HLA-CDA12, HLAF|C|Major histocompatibility complex, class I (cosmid cda12; HLA-F tissue|type)|143110|REn, Fd|||||||| 6.68|1|8|95|6p21.3|HLA-DMA, RING6|P|Major histocompatibility complex, class II, DM alpha||142855|D|||||||| 6.69|1|8|95|6p21.3|HLA-DMB, RING7|P|Major histocompatibility complex, class II, DM beta||142856|D|||||||| 6.70|7|6|95|6p21.3|HLA-DOB|P|Major histocompatibility complex, class II, DO beta||600629|RE|||||||| 6.71|10|23|87|6p21.3|HLA-DPA1, HLADP|C|HLA-DP tissue type||142880|F, RE|2 different alpha, 2 different beta chains||||||| 6.72|10|28|93|6p21.3|HLA-DPB1|C|Major histocompatibility complex, class II, DP beta-1||142858|F, RE|||{Beryllium disease, chronic, susceptibility to} (3)||||| 6.73|9|9|92|6p21.3|HLA-DQA1|C|Major histocompatibility complex, class II, DQ alpha-1||146880|F, RE|1 Dx alpha, 1 Dx beta; 1 DC alpha, 1 DC beta chains||||||| 6.74|10|18|96|6p21.3|HLA-DQB1|C|Major histocompatibility complex, class II, DQ beta-1||142857|F, RE|||{Pemphigoid, susceptibility to} (2)||||| 6.75|5|15|89|6p21.3|HLA-DRA|C|HLA-DR tissue type||142860|F, RE|1 alpha, 3 different beta chains|||||17(H2I)|| 6.76|10|23|87|6p21.3|HLA-DNA|C|HLA-DZ tissue type||142930|F, RE|1 alpha, 1 beta chain; DZ, DR, etc. = class II||||||| 6.77|6|8|89|6p21.3|HLA-E|P|HLA-E tissue type||143010|REn|||||||| 6.78|3|15|92|6p21.3|HLA-G|C|HLA-G histocompatibility antigen, class I||142871|REc, RE||||||17(Qa)|| 6.79|8|12|91|6p21.3|HLA-H|P|HLA-H histocompatibility antigen, class I||142925|REc, REn|||||||| 6.80|5|30|91|6p21.3|HMAA|P|Human monocyte antigen A||143070|F|||||||| 6.81|5|30|91|6p21.3|HMAB|P|Human monocyte antigen B||143080|F|between HLADQ and GLO||||||| 6.82|12|18|91|6p21.3|HSPA1|C|Heat shock 70kD protein-1||140550|S, REa, A|also 14q22-q24, chr.21, and at least 1 other chromosome|||||17(Hsp70)|| 6.83|12|18|91|6p21.3|HSPA1L|P|Heat shock 70kD protein-like-1||140559|REn|||||||| 6.84|1|8|93|6p21.3|IDDM1|L|Insulin-dependent diabetes mellitus-1||222100|F, LD|?linkage or association, with HLA||?Diabetes mellitus, insulin-dependent-1 (2)||||| 6.85|4|24|88|6p21.3|IGLP1|C|Immune response to synthetic polypeptides-1||147080|F|||||||| 6.86|4|24|88|6p21.3|IGLP2|C|Immune response to synthetic polypeptides-2||147090|F|||||||| 6.87|3|9|92|6p21.3|IGAT|P|Immune response to synthetic polypeptide--IRGAT||146820|F|in B/D segment||||||| 6.88|10|23|87|6p21.3|ISCW|P|Immune suppression to streptococcal antigen||146850|H, F|HLA-linked||||||| 6.89|7|11|93|6p21.3|LMP2, RING12|C|Large multifunctional protease-2 (proteasome-related sequence-2)||177045|REn|just centromeric to TAP1|||||17(Lmp2)|| 6.90|2|11|93|6p21.3|LMP7, RING10|C|Large multifunctional protease-7 (proteasome-related sequence-7)||177046|REn|between TAP1 and TAP2||||||| 6.91|12|3|96|6p21.3|LST1|P|Leukocyte-specific transcript 1||601000|REn|||||||| 6.92|9|22|96|6p21.3|LTA, TNFB|P|Lymphotoxin alpha (formerly tumor necrosis factor beta)||153440|REa, A, RE|cen-DR-21OH-C4-BF-C2-TNF-LTA-HLA-B|||||17(Tnfb)|| 6.93|1|27|97|6p21.3|LTB, TNFC|P|Lymphotoxin B||600978|REn|||||||| 6.94|12|14|95|6p21.3|MICA|P|MHC class I polypeptide-related sequence A||600169|REn|||||||| 6.95|10|23|87|6p21.3|MLRW|P|Mixed lymphocyte reaction, weak||157860|F|near HLA-A end||||||| 6.96|1|7|95|6p21.3|MLN|C|Motilin||158270|REa, A, Fd|||||||| 6.97|3|5|95|6p21.3|NEP|P|Neuroepithelial tyrosine kinase||600408|A||||||17(Nep)|| 6.98|2|19|97|6p21.3|NEU|C|Neuraminidase||256550|H, F, A|||Sialidosis, type I (3); Sialidosis, type II (3)|||17(Neu1)|| 6.99|3|6|96|6p21.3|NFKBIL1|P|Nuclear factor of kappa light polypeptide gene enhancer in|B-cells inhibitor-like 1|601022|REn|||||||| 6.100|12|9|91|6p21.3|NFYA|P|Transcription factor NF-Y, A subunit||189903|REa, A||||||17(Nfya)|| 6.101|7|9|95|6p21.3|OLFR2|P|Olfactory receptor 2||600578|RE|in class I MHC region||||||| 6.102|9|12|93|6p21.3|OTF3, OCT3|C|Octomer-binding transcription factor-3||164177|REa, Fd, A, REn|OTF3L on 12; ?related pseudogene on chr.8|||||17(Otf3)|| 6.103|9|12|96|6p21.3|PBX2, HOX12, G17|P|Pre-B-cell leukemia transcription factor-2||176311|A|||||||| 6.104|10|23|87|6p21.3|PDB|L|Paget disease of bone||167250|F|?linkage or association, with HLA||?Paget disease of bone (2)||||| 6.105|10|23|87|6p21.3|PLT1|C|Primed lymphocyte test-1||176680|F|near HLA-D||||||| 6.106|10|19|88|6p21.3|RDBP|P|RD RNA-binding protein||154040|REn|between C4 and BF|||||17(rd)|| 6.107|12|3|96|6p21.3|RING3|P|RING3 gene||601540|REn, Fd|between HLA-DNA and HLA-DMA||||||| 6.108|1|1|95|6p21.3|RP14|P|Retinitis pigmentosa-14 (autosomal recessive)||600132|Fd|||Retinitis pigmentosa-14 (2)||||| 6.109|12|14|95|6p21.3|RPS18|P|Ribosomal protein S18||180473|REn||||||17(Ke3)|| 6.110|10|23|87|6p21.3|RWS|L|Ragweed sensitivity||179450|F|?linkage or association, with HLA||?Ragweed sensitivity (2)||||| 6.111|3|22|93|6p21.3|RXRB|C|Retinoid X receptor, beta||180246|H, REa, Psh, A||||||17(Rxrb)|| 6.112|3|22|93|6p21.3|TAP1, RING4, PSF1|C|Transporter-1, ABC (ATP-binding cassette)||170260|REn|~7kb telomeric to TAP2|||||17(Ham1)|| 6.113|10|13|94|6p21.3|TAP2, RING11, PSF2|C|Transporter-2, ABC (ATP-binding cassette)||170261|REn|tel-TAP1-LMP2-LMP1-TAP2-cen||Bare lymphocyte syndrome, type I, due to TAP2 deficiency (1)|||17(Ham2)|| 6.114|1|1|96|6p21.3|TCF19, SC1|P|Transcription factor 19 (SC1)||600912|REc|||||||| 6.115|9|22|96|6p21.3|TNF, TNFA|P|Tumor necrosis factor (cachectin)||191160|REa, A, RE|5'-LTA--TNF-3' in 7kb segment (pter-cen); 210kb from HLA-B|||||17(Tnfa)|| 6.116|7|11|93|6p21.3|TUBB|C|Tubulin, beta polypeptide||191130|REa, D|||||||| 6.117|12|4|95|6p21.3|ZNF173|P|Zinc finger protein 173||600830|REn|||||||| 6.118|9|16|88|6p21.3-p21.2|CP20|L|Lymphocyte cytosolic protein, molecular weight 20kD||153380|LD|||||||| 6.119|12|4|95|6p21.3-p21.2|CSBP1|P|Cytokine suppressive anti-inflammatory drug binding protein 1||600289|Psh, A|||||||| 6.120|3|15|91|6p21.3-p21.2|GLO1|C|Glyoxalase I||138750|F, S, Fd|~3cM proximal to HLA|||||17(Glo1)|| 6.121|10|23|87|6p21.3-p21.2|LAP|L|Laryngeal adductor paralysis||150270|F|?linkage to HLA and GLO1||?Laryngeal adductor paralysis (2)||||| 6.122|11|5|92|6p21.3-p21.2|TCP11, D6S230E|P|T-complex homolog tcp-11||186982|REa, R, A, REc|expressed only in testis at same time as ZNF76 (day 20 after birth)|||||17(tcp11)|| 6.123|11|5|92|6p21.3-p21.2|ZNF76, D6S229E|P|Zinc finger protein-76 (expressed in testis)||194549|REa, R, A, REc|same 300kb fragment as TCP11|||||17(Znf76)|| 6.124|2|4|89|6p21.3-p21.1|B144|P|B144 protein||109170|RE|10kb 3' from TNFA||||||| 6.125|3|27|90|6p21.3-p21.1|PGC|C|Preprogastricsin||169740|REa, F, REb|cen-PGG-GLO1-HLA|||||17(Upg1)|| 6.126|8|12|91|6p21.3-cen|TCTE1|P|T-complex-associated-testis-expressed-1||186975|A, Fd|||||||| 6.127|11|6|92|6p21.2|PIM1|C|Oncogene PIM1||164960|REa, D, Fd||||||17(Pim1)|| 6.128|10|17|95|6p21.2|CDKN1A, WAF1, CIP1, CDKN1|C|Cyclin-dependent kinase inhibitor 1A (p21, Cip1)||116899|A||||||17(Waf1)|| 6.129|1|16|96|6p21.2-p21.1|MEP1A|C|Meprin A, alpha||600388|REa, R, REc, Fd|||||||| 6.130|9|23|96|6p21.2-p21.1|PPARD, NUC1|P|Peroxisome proliferative activated receptor, delta||600409|Psh, A|||||||| 6.131|12|4|96|6p21.2-p11|EJM1, JME|L|Epilepsy, juvenile myoclonic-1||254770|F, Fd|linkage uncertain||?Epilepsy, juvenile myoclonic (2)||||| 6.132|3|5|95|6p21.1|GUCA1, GCAP|P|Guanylate cyclase activator 1 (guanylin 1, retina)||600364|Psh, A|||||||| 6.133|1|7|95|6p21.1-p12|PKHD1, ARPKD|C|Polycystic kidney and hepatic disease-1 (autosomal recessive)||263200|Fd|human gene cloned with mouse cDNA mapped to chr.13||Polycystic kidney disease, autosomal recessive (2)||||| 6.134|3|3|97|6p21.2-p12|PAFAH2|C|Platelet-activating factor acetylhydrolase||601690|A|||Platelet-activating factor acetylhydrolase deficiency (3)||||| 6.135|2|2|96|6p21.1-p11|RHAG, RH50A|C|Rhesus blood group-associated glycoprotein||180297|REa, A|||Anemia, hemolytic, Rh-null, suppressor type, 268150 (3)||||| 6.136|10|13|94|6p21.1-cen|RDS, RP7|C|Retinal degeneration, slow (peripherin)||179605|REa, A|digenic RP with ROM1||Retinitis pigmentosa, peripherin-related (3); Retinitis punctata|albescens (3); Macular dystrophy (3); Retinitis pigmentosa, digenic|(3); Butterfly dystrophy, retinal (3)|17(rds)|Farrar (1991); Kajiwara (1991)| 6.137|1|11|95|6p21|CBFA1, PEBP2A1, AML3|P|Core-binding factor, runt domain, alpha subunit 1||600211|A|||||||| 6.138|3|5|95|6p21|CCD|C|Cleidocranial dysplasia||119600|Ch, Fd, D|||Cleidocranial dysplasia (2)||||Brueton (1992a)| 6.139|7|12|92|6p21|CCND3|C|Cyclin D3||123834|REa, A|pseudogene also on 6p21||||||| 6.140|5|9|95|6p21|GLP1R|P|Glucagon-like peptide 1 receptor||138032|A||||||17(Glp1r)|| 6.141|10|1|95|6p21|HMGIY|P|High-mobility group (nonhistone chromosomal) protein isoforms I and Y||600701|Psh, R|||?Lipoma (1)||||| 6.142|5|30|91|6p21|MUT, MCM|C|Methylmalonyl Coenzyme A mutase||251000|REa, A, F, D|||Methylmalonicaciduria, mutase deficiency type (3)|||17(Mut)|| 6.143|9|15|96|6p21|NTRK4|P|Neurotrophic tyrosine kinase, receptor, type 4||601312|REa, A|||||||| 6.144|12|14|95|6p21|SKIV2L, SKI2, SKI2W|P|Superkiller viralicidic activity 2 (S. cerevisiae homolog)-like||600478|A|||||||| 6.145|10|1|95|6p21|TCFEB|L|T-cell transcription factor EB||600744|H||||||17(Tcfeb)|| 6.146|2|18|96|6p21|ZNF165|P|Zinc finger protein 165||600834|REa, A|||||||| 6.147|7|13|89|6p21-qter|TPX1|P|Testis-specific protein TPX-1||187430|REa||||||17(Tpx1)|| 6.148|3|6|94|6p12.2|GSTA1|P|Glutathione S-transferase A1||138359|REn|||||||| 6.149|12|6|91|6p12.2|GSTA2, GST2|C|Glutathione S-transferase A2||138360|A, REa||||||9(Gsta)|| 6.150|1|26|95|6p12|D6S1101, DMH|P|Dystonia musculorum of mouse, human homolog of||600088|REa, A|same transcriptional unit as BPAG1|||||1(dt)|| 6.151|12|9|95|6p12|GLCLC|C|Glutamate-cysteine ligase (gamma-glutamylcysteine synthetase),|catalytic (72.8kD)|230450|REa, Psh, A|||Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency|(1)||9(Glclc)|| 6.152|7|5|92|6p12|HNRPG|P|Heterogeneous nuclear ribonucleoprotein polypeptide G||164022|A|||||||| 6.153|1|26|97|6p12|TFAP2B|P|Transcription factor AP-2 beta (activating enhancer-binding protein|2 beta)|601601|A||||||1(Tfap2b)|| 6.154|8|20|96|6p12|VEGF|C|Vascular endothelial growth factor||192240|A|||||||| 6.155|3|18|94|6p12|HSPCB, HSPC2|C|Heat shock 90kD protein 1, beta||140572|Psh, REn|?6p21||||||| 6.156|10|1|95|6p12-p11.1|PRIM2A|P|Primase polypeptide 2A (58kD)||176636|Psh, A||||||2(Prim2)|| 6.157|10|1|95|6p12-p11.1|PRIM2B|P|Primase polypeptide 2B (58kD)||600741|Psh, A|||||||| 6.158|3|22|93|6p12-p11|BPAG1|C|Bullous pemphigoid antigen 1||113810|A, REa||||||1(Bpag1)|| 6.159|3|29|89|6p12-p11|KRAS1P|C|Kirsten rat sarcoma-1 viral (v-Ki-ras1) oncogene homolog, processed|pseudogene|190110|S|||||||| 6.160|10|23|87|6p|CSCI|L|Corticosterone side-chain isomerase||122550|H|?linked to MHC||||||| 6.161|1|28|93|6p|ICS1|L|Immotile cilia syndrome-1||242650|F|?linked to HLA; ?same as TUBB||?Immotile cilia syndrome (2)||||| 6.162|9|29|96|6p|NYS2, NYSA|P|Nystagmus-2, autosomal dominant||164100|Fd|||Nystagmus-2, autosomal dominant (2)||||| 6.163|1|4|93|6p|PUJO|P|Pelviureteric junction obstruction||143400|F|linked to HLA||Pelviureteric junction obstruction (2)||||Mackintosh (1989); Izquierdo (1991)| 6.164|9|28|95|6cen-q14|STGD3|P|Stargardt disease 3 (autosomal dominant)||600110|Fd|||Stargardt disease 3 (2)||||| 6.165|4|10|97|6q|MPSH|P|Mixed polyposis syndrome, hereditary||601228|Fd|||Mixed polyposis syndrome, hereditary (2)||||| 6.166|10|1|95|6q|PBCRA, CRAPB|P|Progressive bifocal choricoretinal atrophy||600790|Fd|||Chorioretinal atrophy, progressive bifocal (2)||||| 6.167|10|23|87|6q12|ME1|C|Malic enzyme, cytoplasmic||154250|S||||||9(Mod1)|| 6.168|10|23|87|6q12|PGM3|C|Phosphoglucomutase-3||172100|S, F, OT||||||9(Pgm3)|| 6.169|7|12|92|6q12-q14|D6S228E, COL9A1L|P|DNA segment, single copy, expressed, probe COLYA1||120165|A|||||||| 6.170|1|25|93|6q12-q21|DBI|I|Diazepam-binding inhibitor||125950|Psh|?on 2q12-q21||||||| 6.171|10|4|93|6q13|COL9A1|C|Collagen IX, alpha-1 polypeptide||120210|A|||||||| 6.172|8|20|92|6q13|HTR1B|P|5-hydroxytryptamine (serotonin) receptor-1B||182131|REa, A|||||||| 6.173|1|26|93|6q13-q15|OA3, OAR|L|Ocular albinism, autosomal recessive||203310|Ch|del(6)(q13-q15)||?Ocular albinism, autosomal recessive (2)||||Rose (1992)| 6.174|8|11|91|6q14-q15|CNR|P|Cannabinoid receptor||114610|Fd, A|||||||| 6.175|10|13|94|6q14-q15|HTR1E|P|5-hydroxytryptamine (serotonin) receptor 1E||182132|Psh, A|||||||| 6.176|3|1|94|6q14-q15|M6P2|P|Membrane component, chromosome 6, polypeptide 2 (identified by|monoclonal antibody MARB15)|155960|REa, A|||||||| 6.177|7|10|95|6q14-q15|SIASD, SLD|C|Sialic acid storage disease||269920|Fd, LD|||Salla disease (2)||||| 6.178|8|13|91|6q14-q15|TPBG|P|Trophoblast glycoprotein||190920|REa|||||||| 6.179|11|6|92|6q14-q16.2|MCDR1|P|Macular dystrophy, retinal, 1 (North Carolina type)||136550|Fd|||Macular dystrophy, North Carolina type (2)||||Small (1991, 1992)| 6.180|5|22|92|6q14-q21|GABRR1|P|Gamma-aminobutyric acid (GABA) A receptor, rho-1||137161|Psh, H||||||4(Gabbr1)|| 6.181|5|22|92|6q14-q21|GABRR2|P|Gamma-aminobutyric acid (GABA) A receptor, rho-2||137162|Psh, H||||||4(Gabbr2)|| 6.182|6|10|94|6q14-q21|NT5|C|5' nucleotidase (CD73)||129190|S|||||||| 6.183|5|9|95|6q16|POU3F2, OCT7|P|POU domain, class 3, transcription factor 2||600494|REa, A|||||||| 6.184|4|10|90|6q21|BKMA1|P|Banded krait minor satellite DNA-1||109780|A|related to heterogametic sex|||||17(Bkma1)|| 6.185|7|10|95|6q21|CCNC|C|Cyclin C||123838|A|||||||| 6.186|11|6|94|6q21|CD24|P|CD24 antigen||600074|A, Psh|pseudogenes at 15q21-q22; Yq11||||||| 6.187|12|14|95|6q16|EDDR1|P|Epithelial discoidin domain receptor 1||600452|Psh, A|||||||| 6.188|1|4|93|6q21|FYN|P|FYN oncogene related to SRC, FGR, YES||137025|REa, A|proximal 6q21|||||10(Fyn)|| 6.189|2|19|97|6q21|IDDM15|P|Insulin-dependent diabetes mellitus 15||601666|Fd|||Insulin-dependent diabetes mellitus-15 (2)||||| 6.190|11|6|94|6q21|LAMA4, LAMA3|P|Laminin, alpha 4||600133|A, REb|||||||| 6.191|11|20|95|6q21-q22|AMD1|C|S-adenosylmethionine decarboxylase-1||180980|REa|pseudogene AMD2 on Xq28||||||| 6.192|6|12|95|6q21-q22.1|GPR6|C|G protein-coupled receptor 6||600553|A|||||||| 6.193|7|11|93|6q21-q22.3|COL10A1|C|Collagen, type X, alpha-1 polypeptide||120110|REa, A|||Metaphyseal chondrodysplasia, Schmid type (3)|||10(Col10a1)|| 6.194|7|10|95|6q21-q23.2|GJA1, CX43|C|Gap junction protein, alpha-1, 43kD (connexin 43)||121014|REa|pseudogene on chr.5||Heterotaxia, visceroatrial, autosomal recessive (3)|||10(Gja1)|| 6.195|8|11|91|6q21-qter|NMBR|P|Neuromedin B receptor||162341|Psh|||||||| 6.196|5|29|91|6q21.1-q23|CGA|C|Chorionic gonadotropin, alpha polypeptide||118850|REa, A|shared with LH, FSH, TSH|||||4(Tsha)|| 6.197|8|29|91|6q21.3|NKS1, EC1|P|Susceptibility to lysis by alloreactive natural killer cells||272370|F||||||17(Hh1)|| 6.198|3|18|94|6q22|MAK|L|Male germ cell-associated kinase||154235|H||||||13(Mak)|| 6.199|10|23|87|6q22|MYB|C|Avian myeloblastosis viral (v-myb) oncogene homolog||189990|REa, A||||||10(Myb)|| 6.200|2|10|97|6q22|PREP|P|Prolyl endopeptidase||600400|A|||||||| 6.201|1|4|93|6q22|ROS1, MCF3|C|Avian UR2 sarcoma virus oncogene (v-ros) homolog 1||165020|REa, A||||||10(Ros1)|| 6.202|11|15|94|6q22-q23|LAMA2, LAMM|C|Laminin, alpha 2 (merosin)||156225|REa, A, Fd|muscular dystrophy in mice||Muscular dystrophy, congenital merosin-deficient (3)|||10(dy, Lamm)|| 6.203|12|14|95|6q22-q23|PDNP1, NPPS, M6S1, PCA1|P|Phosphodiesterase I/nucleotide pyrophosphatase 1 (homologous to mouse|Ly-41 antigen)|173335|A, H||||||10(Ly41, Pca1)|| 6.204|9|15|96|6q22-q22|TNDM|P|Diabetes mellitus, transient neonatal||601410|Fd|||Diabetes mellitus, transient neonatal (2)||||| 6.205|9|12|93|6q22.1|PLB|P|Phospholamban||172405|REc|||||||| 6.206|6|29|94|6q22.2|MACS, PKCSL|C|Myristoylated alanine-rich protein kinase C substrate (MARCKS,|80K-L)|177061|REb, REa|monomorphic|||||10(Macs)|| 6.207|1|23|96|6q22.3-q23.1|HPFH|P|Hereditary persistence of fetal hemoglobin, heterocellular||142470|Fd|||[Hereditary persistence of fetal hemoglobin, heterocellular] (2)||||| 6.208|10|17|96|6q22.2-q23.3|DFNA10|P|Deafness, autosomal nonsyndromic sensorineural, 10||601316|Fd|||Deafness, autosomal nonsyndromic sensorineural, 10 (2)||||| 6.209|10|9|96|6q22.3-q24|PCMT1|P|Protein-L-isoaspartate (D-aspartate) O-methyltransferase||176851|REa, A||||||10(Pcmt1)|| 6.210|10|23|87|6q23|ARG1|P|Arginase, liver||207800|REa|||Argininemia (3)||||| 6.211|1|25|93|6q23-q24|HIVEP2|P|Human immunodeficiency virus type I enhancer-binding protein-2||143054|REa, A|||||||| 6.212|2|2|90|6q23-q24|IFNGR1|C|Immune interferon, receptor for||107470|S, A|?both 6 and 18 required|||||10(Ifgr)|| 6.213|10|1|95|6q23-q25|MELF|P|Myoclonus epilepsy, Lafora type||254780|Fd|||Myoclonus epilepsy, Lafora type (2)||||| 6.214|7|11|93|6q23.1|CTGF, NOV2|P|Connective tissue growth factor||121009|REa, A|proximal to MYB||||||| 6.215|7|8|96|6q24|UTRN, DMDL, DRP1|C|Utrophin (homologous to dystrophin)||128240|REa, F, Fd, A|near dy in mouse|||||10(Dmdl)|| 6.216|10|13|94|6q24-q25|OPRM1|C|Opioid receptor, mu 1||600018|A||||||10(Oprm)|| 6.217|6|8|95|6q24-q27|IDDM5|P|Insulin-dependent diabetes mellitus-5||600320|Fd|||Insulin-dependent diabetes mellitus-5 (2)||||| 6.218|8|28|92|6q24-q27|MAS1|C|Oncogene MAS1||165180|A, REa||||||17(Mas1)|| 6.219|12|29|89|6q25-q26|RCD1|L|Retinal cone dystrophy-1||180020|Ch|||?Retinal cone dystrophy-1 (2)||||| 6.220|6|29|94|6q25-q26|VIL2, CVL|C|Villin-2 (cytovillin)||123900|REa, A|coamplified with MYB||||||| 6.221|10|22|95|6q25-q27|IDDM8|P|Insulin-dependent diabetes mellitus 8||600883|Fd|||Diabetes mellitus, insulin-dependent, 8 (2)||||| 6.222|3|28|88|6q25-qter|FUCA2|C|Fucosidase, alpha-L- 2, plasma||136820|F|linked to PLG||||||| 6.223|11|8|94|6q25.1|ESR|C|Estrogen receptor||133430|REa, A|||Breast cancer (1); Estrogen resistance (3)|||10(Esr)|| 6.224|11|6|92|6q25.3|SOD2|C|Superoxide dismutase-2, mitochondrial||147460|S, D, REa, A||||||17(Sod2)|| 6.225|9|28|96|6q25.3-q26|ACAT2|P|Acetyl-Coenzyme A acetyltransferase 2 (acetoacetyl Coenzyme A|thiolase)|100678|A|encoded on strand opposite TCP1||?ACAT2 deficiency (1)||||| 6.226|3|25|96|6q25.3-q26|HNRPH2|P|Heterogeneous nuclear ribonucleoprotein H'||601036|A|second signal at Xq22, pseudogene?||||||| 6.227|9|28|96|6q25.3-q26|TCP1|C|T-complex locus TCP-1||186980|REa, H, A, Fd, REn|tightly linked to PLG; ~15cM proximal to TCP10; overlap with|ACAT2||||17(Tcp1)|| 6.228|1|5|96|6q26|IGF2R, MPRI|C|Insulin-like growth factor-2 receptor (mannose-6-phosphate receptor,|cation-independent)|147280|REa, A|behaves as a tumor suppressor||Hepatocellular carcinoma (3)|||17(Igf2r)|| 6.229|6|29|94|6q26|PLG|C|Plasminogen||173350|REa, A, LD, F|20cM from TCP10A||Plasminogen Tochigi disease (3); Dysplasminogenemic thrombophilia|(1); Plasminogen deficiency, types I and II (1)||17(Plg)|| 6.230|9|12|93|6q26-q27|OVCS|P|Ovarian cancer, serous||167000|D|loss of heterozygosity||Ovarian cancer, serous (2)||||| 6.231|11|22|88|6q26-q27|VIP|C|Vasoactive intestinal peptide||192320|REa, A, REb|||||||| 6.232|5|15|89|6q27|LPA|C|Apolipoprotein Lp(a)||152200|REa, A, F, Fd|absent in mice||{Coronary artery disease, susceptibility to} (1)||||| 6.233|5|18|94|6q27|MLLT4, AF6|C|Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 4||159559|Ch, A|distal to OVCS||||||| 6.234|12|14|95|6q27|PDCD2|P|Programmed cell death 2||600866|A|||||||| 6.235|9|2|96|6q27|T, TFT|P|Brachyury (mouse) homolog||601397|A, Fd||||||17(T)|| 6.236|11|4|94|6q27|TBP|C|TATA box binding protein||600075|REa, A, Fd|||||||| 6.237|8|21|92|6q27|TCTE3|P|T-complex-associated-testis-expressed-3||186977|REa, A|||||||| 6.238|11|8|91|6q27|THBS2|P|Thrombospondin 2||188061|REa, A||||||17(Thbs2)|| 6.239|8|28|92|6q27|TCP10|C|T-complex 10 (a murine tcp homolog)||187020|Fd||||||17(Tcp10)|| 6.240|10|23|87|Chr.6|ADCP1|I|Adenosine deaminase complexing protein-1||102710|S|||||||| 6.241|10|23|87|Chr.6|BEVI|C|Baboon M7 virus replication||109180|S|||||||| 6.242|2|11|93|Chr.6|BMP5|P|Bone morphogenetic protein-5||112265|REa|||||||| 6.243|2|11|93|Chr.6|BMP6|P|Bone morphogenetic protein-6||112266|REa|||||||| 6.244|11|4|93|Chr.6|COL12A1L|P|Collagen, type XII, alpha 1-like||120321|REa|in FACIT family|||||9(Col12a1)|| 6.245|6|17|94|Chr.6|DGPT|L|UDP-GlcNAc:dolichyl-phosphate N-acetylglucosaminephosphotransferase||191350|H||||||17(Dgpt)|| 6.246|10|23|87|Chr.6|FEA|L|F9 embryonic antigen||137010|H|||||||| 6.247|5|18|94|Chr.6|GRIK2, GLUR6|P|Glutamate receptor, ionotropic, kainate 2||138244|REa|||||||| 6.248|11|4|91|Chr.6|LAKL|P|Lymphokine-activated killer cell ligand||153435|S|||||||| 6.249|10|23|87|Chr.6|MRBC|P|Monkey RBC receptor||158050|S|||||||| 6.250|10|23|87|Chr.6|P|P|P blood group globoside||111400|S|||||||| 6.251|10|13|94|Chr.6|PBCA|P|Pancreatic beta cell, agenesis of||600089|D|uniparental disomy||?Diabetes mellitus, insulin-dependent, neonatal (2)||||| 6.252|10|23|87|Chr.6|TS546|P|Temperature sensitivity complementation, cell cycle specific,|ts546 cells|187330|S|||||||| 6.253|8|23|90|Chr.6|VGR1|L|Vg-related sequence||193010|H||||||13(Vgr1)|| 7.1|9|12|93|7pter-p22|PRKAR1B|P|Protein kinase, cAMP-dependent, regulatory, type I, beta||176911|Fd|||||||| 7.2|8|16|90|7pter-p14|GCTG|P|Gamma-glutamylcyclotransferase||137170|S||||||6(Ggc)|| 7.3|3|15|92|7pter-p13|CALML1|P|Calmodulin-like 1||114181|REa|||||||| 7.4|6|7|91|7p22-p21|ZNF12|P|Zinc finger protein-12 (KOX3)||194536|REa, A|||||||| 7.5|12|4|90|7p22-p15|RALA|P|RAS-like protein A; Simian leukemia viral (v-ral) oncogene homolog|A (ras-related)|179550|REb, A||||||13(Ral)|| 7.6|7|10|95|7p22|ETV1|P|ETS variant gene 1||600541|Ch, A|fused with EWS in some Ewing sarcoma||||||| 7.7|2|20|97|7p22|ICA1|P|Islet cell autoantigen 1 (69kD)||147625|A||||||6(Ica1)|| 7.8|11|6|95|7p22|JTV1|P|JTV1 gene||600859|A|||||||| 7.9|6|8|95|7p22|MTH1|P|MutT (E. coli) human homolog (8-oxo-7,8-dihydroguanosine|triphosphatase)|600312|A|||||||| 7.10|8|28|92|7p22|PDGFA|C|Platelet-derived growth factor, alpha polypeptide||173430|REa, A|||||||| 7.11|1|7|95|7p22|PMSL2, PMS2|P|Postmeiotic segregation increased (S. cerevisiae)-like 2||600259|REa, A|||||||| 7.12|4|7|94|7p22|RPA3|P|Replication protein A3 (14kD)||179837|REa, Psh, A|||||||| 7.13|6|13|95|7p22.1-p21.3|MEOX2|P|Mesenchyme homeo box 2||600535|A|||||||| 7.14|3|22|93|7p21.3-p21.2|CRS, CSO|C|Craniosynostosis, type I||123100|Ch|||Craniosynostosis, type 1 (2)||||| 7.15|1|7|95|7p21|AHR|C|Aryl hydrocarbon receptor||600253|REa, A, Psh|||||||| 7.16|5|24|90|7p21|IL6, IFNB2, BSF2|C|Interleukin-6 (interferon, beta-2)||147620|REa, A, Fd||||||5(Il6)|| 7.17|2|20|97|7p21|ACS3, SCS, TWIST|C|Transcription factor TWIST||601622|Fd, Ch, A, REa|||Saethre-Chotzen syndrome, 101400 (3)|||12(Twist)|Brueton (1992b)| 7.18|4|7|94|7p21-p15|MDDC|P|Macular dystrophy, dominant cystoid||153880|Fd|?allelic to RP9||Macular dystrophy, dominant cystoid (2)||||| 7.19|2|3|97|7p21-p13|BPES2|P|Blepharophimosis, epicanthus inversus, and ptosis 2||601649|Fd|||Blepharophimosis, epicanthus inversus, and ptosis 2 (2)||||| 7.20|11|22|88|7p15.2-p15.1|PSP|C|Phosphoserine phosphatase||172480|S, D||||||5(Psph)|| 7.21|5|9|95|7p15.1|NPY|C|Neuropeptide Y||162640|REa, H, A||||||6(Npy)|| 7.22|6|11|93|7p15.1-p13|RP9|P|Retinitis pigmentosa-9||180104|Fd|||Retinitis pigmentosa-9 (2)||||| 7.23|10|13|94|7p15|HNRPA2B1|P|Heterogeneous nuclear ribonucleoprotein A2/B1||600124|A|||||||| 7.24|1|23|96|7p15|DFNA5|P|Deafness, autosomal dominant 5||600994|Fd|||Deafness, autosomal dominant 5 (2)||||| 7.25|2|15|96|7p15|GARS|P|Glycyl-tRNA synthetase||600287|A|||||||| 7.26|8|21|91|7p15|MYCLK1|P|Avian myelocytomatosis viral (v-myc) oncogene homolog like 1||164865|A|||||||| 7.27|6|13|95|7p15|SP4|P|Sp4 transcription factor||600540|Psh, A|||||||| 7.28|1|9|96|7p15-p14|GHRHR|C|Growth hormone releasing hormone receptor||139191|REa, A|||Growth hormone deficient dwarfism (3)|||6(Lit, Ghrhr)|| 7.29|2|26|93|7p15-p14.2|HOXA@, HOX1@|C|HOMEO BOX A CLUSTER|||A, REa, H, RE|order: A13, A11, A10, A9, A7, A6, A5, A4|||||6(Hox1)|| 7.30|2|26|93|7p15-p14.2|HOXA1, HOX1F|L|Homeo box-A1||142955|RE|homolog of Drosophila lab|||||6(Hox1.6)|| 7.31|2|26|93|7p15-p14.2|HOXA3, HOX1E|L|Homeo box-A3||142954|RE|homolog of Drosophila zen1, zen2|||||6(Hox1.5)|| 7.32|2|26|93|7p15-p14.2|HOXA4, HOX1D|C|Homeo box-A4||142953|A, REa, H, RE|homolog of Drosophila Dfd|||||6(Hox1.4)|| 7.33|2|26|93|7p15-p14.2|HOXA5, HOX1C|C|Homeo box-A5||142952|A, REa, H, RE||||||6(Hox1.3)|| 7.34|2|26|93|7p15-p14.2|HOXA6, HOX1B|C|Homeo box-A6||142951|A, REa, H, RE||||||6(Hox1.2)|| 7.35|2|26|93|7p15-p14.2|HOXA7, HOX1A|C|Homeo box-A7||142950|A, REa, H, RE|homolog of Drosophila Antp|||||6(Hox1.1)|| 7.36|2|26|93|7p15-p14.2|HOXA9, HOX1G|C|Homeo box-A9||142956|RE, Ch|homolog of Drosophila Abd-B; fused to NUP98 in myeloid leukemia|||||6(Hox1.7)|| 7.37|2|26|93|7p15-p14.2|HOXA10, HOX1H|C|Homeo box-A10||142957|A, REa, H, RE|||||||| 7.38|2|26|93|7p15-p14.2|HOXA11, HOX1I|C|Homeo box-A11||142958|A, REa, H, RE|||||||| 7.39|2|3|97|7p15-p14.2|HOXA13, HOX1J|C|Homeo box-A13||142959|RE, Fd|||Hand-foot-uterus syndrome, 140000 (3)|||6(Hoxa13, Hd)|| 7.40|3|23|95|7p15-p14|EVX1|P|Even-skipped homeo box-1 (homolog of Drosophila)||142996|REn|at 5' end of HOX1 cluster||||||| 7.41|2|9|92|7p15-p14|TCRG|C|T-cell antigen receptor, gamma polypeptide||186970|REa, A, Ch|multiple V genes, two J-C duplexes|||||13(Tcrg)|| 7.42|6|29|92|7p15-p13|GCK|P|Glucokinase (hexokinase-4)||138079|Psh, Fd|proximal to TCRB||MODY, type II, 125851 (3)||||Hattersley (1992); Stoffel (1992)| 7.43|2|4|89|7p15-p13|INHBA|P|Inhibin, beta-1||147290|REa||||||13(Inhba)|| 7.44|7|11|93|7p15-p12|ACTB|C|Actin, beta||102630|REa|~20 pseudogenes also|||||5(Actb)|| 7.45|1|21|97|7p15-p11.2|WTSL|P|Wilms tumor suppressor locus||601583|Ch|||||||| 7.46|6|11|91|7p15-q22.1|ERV3|P|Endogenous retroviral sequence-3 (includes zinc finger protein H-plk)||131170|REa|||||||| 7.47|1|7|95|7p14|ADCYAP1R1, PACAPR|P|Adenylate cyclase activating polypeptide 1 (pituitary) receptor type 1||102981|Psh, A|||||||| 7.48|11|4|93|7p14|AQP1, CHIP28, CO|C|Aquaporin 1 (channel-forming integral protein, 28kD)||107776|REa, A, Fd|||Colton blood group (3)|||6(Aqp1)|| 7.49|11|13|96|7p14|CMT2D|P|Charcot-Marie-Tooth disease, neuronal type, D||601472|Fd|||Charcot-Marie-Tooth disease, neuronal type, D (2)||||| 7.50|3|26|95|7p14-p13|AMPH|P|Amphiphysin||600418|Psh, A||||||13(Amph)|| 7.51|11|20|95|7p14-p13|OGDH|C|Oxoglutarate dehydrogenase (lipoamide)||203740|REa, A|||Alpha-ketoglutarate dehydrogenase deficiency (1)||||| 7.52|10|13|94|7p14-p12|AOAH|P|Acyloxyacyl hydrolase (neutrophil)||102593|A|||||||| 7.53|2|9|92|7p14-p12|IGFBP1|C|Insulin-like growth factor-binding protein-1||146730|REa, A, REn|||||||| 7.54|2|9|92|7p14-p12|IGFBP3|C|Insulin-like growth factor-binding protein-3||146732|REn|tail-to-tail 20kb from IGFBP1||||||| 7.55|1|1|96|7p14-cen|BLVRA|C|Biliverdin reductase A||109750|S, A||||||2(Blvr)|| 7.56|3|3|97|7p13|GLI3|C|GLI-Kruppel family member GLI3 (oncogene GLI3)||165240|REa, A, Fd|amplified in glioblastoma||Greig cephalopolysyndactyly syndrome, 175700 (3); Pallister-Hall|syndrome, 146510 (3)||13(Xt)|| 7.57|9|19|94|7p13-p12|ADCY1|C|Adenylate cyclase-1 (brain)||103072|A, REa||||||11(Adcy1)|| 7.58|3|27|90|7p13-p12.3|PGAM2, PGAMM|C|Phosphoglycerate mutase, muscle form||261670|REa, A|||Myopathy due to phosphoglycerate mutase deficiency (3)||||| 7.59|10|1|95|7p13-p11.2|PPIA|P|Peptidylprolyl isomerase A (cyclophilin A)||123840|Psh, A|||||||| 7.60|2|23|92|7p13-p11|OCM|P|Oncomodulin||164795|REa|||||||| 7.61|10|23|87|7p13-q22|MDH2|C|Malate dehydrogenase, mitochondrial||154100|S||||||5(Mor1)|| 7.62|2|1|90|7p12.3-p12.1|EGFR|C|Epidermal growth factor receptor||131550|S, Fd, D, REa|same as oncogene ERBB|||||11(Erbb)|| 7.63|7|11|93|7p12-cen|TTIM1|C|T-cell tumor invasion and metastasis-1 (invasion-metastasis of|neoplasms, chromosome 7 determined)|147830|S|||||||| 7.64|10|12|90|7p12-q21|PHKG1|P|Phosphorylase kinase, gamma 1 (muscle)||172470|REa, A|presumed pseudogene on 11|||||5(Phkg)|| 7.65|3|21|94|7p11.4-cen|ARAF2, PKS1|C|Oncogene ARAF2||164710|REa, A|?pseudogene||||||| 7.66|10|23|87|7p11-q11.2|PKS1|P|Oncogene PKS1||165010|REa, A|||||||| 7.67|7|5|92|7p11|DDC|C|DOPA decarboxylase (aromatic L-amino acid decarboxylase)||107930|REa, A|||||||| 7.68|10|23|87|7p|GHS|L|Goldenhar syndrome||141400|Ch|||?Goldenhar syndrome (2)||||| 7.69|10|1|95|7p|SMAD1|P|Spinal muscular atrophy, distal, with upper limb predominance||600794|Fd|||Spinal muscular atrophy, distal, with upper limb predominance (2)||||| 7.70|12|14|95|7p|TCF6L1, MTTF1|P|Transcription factor 6-like 1 (mitochondrial transcription factor|1-like)|157670|REc|||||||| 7.71|5|25|88|7cen-q11.2|ASL|C|Argininosuccinate lyase||207900|S, REa, A|||Argininosuccinicaciduria (3)|||5(Asl)|| 7.72|8|11|91|7q|HRX|P|Hyperreflexia||145290|F|linked to KEL||||||| 7.73|1|11|95|7q|NFE2U|L|Nuclear factor erythroid-2, ubiquitous (p18)||600197|H||||||5(Nfe2u)|| 7.74|8|11|91|7q|PTC|P|Phenylthiocarbamide taste||171200|F|linked to KEL||||||| 7.75|1|18|95|7q11.2|CD36|P|CD36 antigen (collagen type I)||173510|A|||[Macrothrombocytopenia] (1); Platelet glycoprotein IV deficiency|(3)|||| 7.76|9|12|93|7q11.2|ELN|C|Elastin||130160|REa, A, F, Fd|||Supravalvar aortic stenosis, 185500 (3); Williams-Beuren syndrome,|194050 (3)||5(Eln)|| 7.77|9|9|90|7q11.2|POR|P|Cytochrome P-450 reductase||124015|REa, A|||||||| 7.78|9|23|96|7q11.2|SKP1A|P|S-phase kinase-associated protein 1A (p19A)||601434|A|||||||| 7.79|9|12|93|7q11.2|ZNF117|P|Zinc finger protein-117||194624|A|||||||| 7.80|9|14|95|7q11.2-q21|CCM1, CAM|C|Cerebral cavernous malformations 1||116860|Fd|||Cavernous angiomatous malformations (2)||||| 7.81|10|6|92|7q11.2-q21.3|EEC|L|Ectrodactyly, ectodermal dysplasia, cleft lip/palate||129900|Ch|||?EEC syndrome (2)||||| 7.82|9|14|95|7q11.21|GABPB1, E4TF1B|P|GA-binding protein transcription factor, beta subunit 1 (53kD)||600610|A|||||||| 7.83|9|3|96|7q11.23|LIMK1|P|LIM domain kinase 1||601329|REn, Ch||||||5(Limk1)|| 7.84|10|12|90|7q11.23|NCF1|P|Neutrophil cytosolic factor-1 (47kD)||233700|REa, A|||Chronic granulomatous disease due to deficiency of NCF-1 (3)||||| 7.85|1|9|95|7q11.23|PTPN12, PTPG1|P|Protein tyrosine phosphatase, non-receptor type 12||600079|A||||||5(Ptpn12)|| 7.86|3|6|95|7q11.23|RFC2|P|Replication factor C (activator 1) 2 (40kD)||600404|Psh, A|||||||| 7.87|5|22|92|7q11.23|ZWS1|C|Zellweger syndrome-1||214100|Ch|||Zellweger syndrome-1 (2)||||Gartner (1992)| 7.88|6|11|91|7q21|EPO|C|Erythropoietin||133170|REa, A, REb, Fd|close to COL1A2; no recombination||?Erythremia (1)|||5(Epo)|| 7.89|6|1|88|7q21|GNAI1|C|Guanine nucleotide-binding protein (G protein), alpha-inhibiting|activity polypeptide-1|139310|REa, A||||||5(Gnai1)|| 7.90|10|13|94|7q21-q22|CACNL2A|C|Calcium channel, L type, alpha 2 polypeptide||114204|Psh, Fd, A|||Malignant hyperthermia susceptibility-3, 154276 (3)||||| 7.91|12|11|91|7q21-q22|TAC2, NKNA|C|Tachykinin 2 (substance K; neurokinin A, neurokinin 2, neuromedin L,|neuropeptide gamma)|162320|REa, A, H||||||6(Nkna)|| 7.92|9|28|96|7q21-q22|ZNF36, KOX18|P|Zinc finger protein 36 (KOX 18)||601260|A, REc|||||||| 7.93|9|28|96|7q21-q22|ZNF38, KOX25|P|Zinc finger protein 38 (KOX 25)||601261|A, REc|||||||| 7.94|12|9|91|7q21-q27|GNB2|C|Guanine nucleotide-binding protein, beta polypeptide-2||139390|REa, REn|30-70kb from EPO|||||5(Gnb2)|| 7.95|3|29|89|7q21-q31|ASNS|C|Asparagine synthetase||108370|S, REa, A|temperature sensitive G1 mutant||||||| 7.96|8|11|91|7q21.1|HGF|C|Hepatic growth factor||142409|REb, A, REa|||||||| 7.97|8|22|90|7q21.1|PGY1, MDR1|C|P-glycoprotein-1/multiple drug resistance-1||171050|REa, A, REb||||||5(Pgy1)|| 7.98|1|28|88|7q21.1|PGY3, MDR3|P|P-glycoprotein-3/multiple drug resistance-3||171060|RE|within 500kb of MDR1||||||| 7.99|6|4|89|7q21.1|SRI, SCN|P|Sorcin (class 4 gene)||182520|REa, H|||||||| 7.100|8|21|91|7q21.11|GUSB|C|Glucuronidase, beta-||253220|S, D, EM|||Mucopolysaccharidosis VII (3)|||5(Gus)|| 7.101|3|28|96|7q21.2-q21.3|SHFM1, SHFD1, SHSF1|C|Split hand/foot malformation (ectrodactyly) type 1||183600|Ch|||Split hand/foot malformation, type 1 (2)||||Del Porto (1983); Roberts (1991)| 7.102|11|20|95|7q21.3|CALCR, CRT|C|Calcitonin receptor||114131|A, Psh|not deleted in Williams syndrome||||||| 7.103|1|7|95|7q21.3-q22|PCOLCE|P|Procollagen C-endopeptidase enhancer||600270|REa, A|||||||| 7.104|4|7|97|7q21.3-q22|PAI1, PLANH1|C|Plasminogen activator inhibitor, type I||173360|REa, REb, Fd, A, D|||Thrombophilia due to excessive plasminogen activator inhibitor (1);|Hemorrhagic diathesis due to PAI1 deficiency (1)|||| 7.105|10|17|96|7q21.3-q22.1|DSS1|P|Deleted in split-hand/split-foot 1 region||601285|D|||Split hand/foot malformation, type 1 (3)||||| 7.106|6|13|95|7q21.3-q22.1|MCM2|P|Minichromosome maintenance deficient (S. cerevisiae) 2||600592|A|||||||| 7.107|9|20|95|7q21.3-q22.1|NPTX2|P|Pentraxin II||600750|A|||||||| 7.108|8|28|92|7q22|ACHE, YT|C|Acetylcholinesterase (YT blood group)||100740|Psh, A, Fd, REb|blood group YT (112100) = epitope of ACHE|||||5(Ache)|| 7.109|3|22|93|7q22|CUTL1|P|Cut (Drosophila)-like 1||116896|REa|||||||| 7.110|10|13|94|7q22|DLX5|C|Distal-less homeo box-5||600028|REa, A, D|||||||| 7.111|1|8|95|7q22|DLX6|P|Distal-less homeo box 6||600030|REa, A|||||||| 7.112|3|15|92|7q22|H2A|P|Histone IIa||142720|A|||||||| 7.113|3|15|92|7q22|H2B|P|Histone IIb||142760|A|||||||| 7.114|8|11|91|7q22|MUC3|P|Mucin 3, intestinal||158371|REa, A|||||||| 7.115|9|22|96|7q22|PON1, PON, ESA|C|Paraoxonase||168820|F, Fd|Order: COL1A2-D7S15-PON-CF|||||6(Pon1)|| 7.116|5|23|95|7q22|PRKAR2B|C|Protein kinase, cAMP-dependent, regulatory, type II, beta||176912|Fd, A, REc|||||||| 7.117|7|10|95|7q22|RL, RELN|C|Reelin||600514|A, REc||||||5(rl)|| 7.118|9|15|96|7q22|TFPI2|P|Tissue factor pathway inhibitor-2||600033|A|||||||| 7.119|2|5|97|7q22-q31.1|DRA, CLD|C|Down-regulated in adenoma||126650|A, REc, Fd|||?Colon cancer (1); Chloride diarrhea, congenital, Finnish type,|214700 (3)|||| 7.120|9|14|89|7q22-q32|G7P1|P|Kinase-like protein||148750|REa, Fd|||||||| 7.121|4|29|90|7q22-qter|NM, GP130|C|Neutrophil migration (granulocyte glycoprotein)||162820|D|formerly neutrophil chemotactic response||||||| 7.122|3|22|93|7q22-qter|PAX4|C|Paired box homeotic gene-4||167413|REa||||||6(Pax4)|| 7.123|3|18|94|7q22.1|AZGP1, ZAG|C|Alpha-2-glycoprotein, zinc||194460|REa, A|||||||| 7.124|10|8|96|7q22.1|COL1A2|C|Collagen, type I, alpha-2 polypeptide||120160|S, REa, D, A|~17cM from CF||Osteogenesis imperfecta, 4 clinical forms, 166200, 166210, 259420,|166220 (3); Ehlers-Danlos syndrome, type VIIA2, 130060 (3);|Osteoporosis, idiopathic, 166710 (3); Marfan syndrome, atypical (3)|6(Cola2)|| 7.125|12|14|95|7q22.1|CYP3A4|C|Cytochrome P450, subfamily IIIA (nifedipine oxidase) polypeptide 4||124010|REa, D, Fd, A||||||6(Cyp3)|| 7.126|10|16|95|7q3|CMH6|P|Cardiomyopathy, hypertrophic 6||600858|Fd|||Cardiomyopathy, familial hypertrophic with|Wolff-Parkinson-White syndrome (2)|||| 7.127|10|2|95|7q31|DFNB4|P|Deafness, autosomal recessive 4||600791|Fd|||Deafness, autosomal recessive-4 (2)||||| 7.128|7|4|88|7q31|MET|C|Oncogene MET||164860|REa, A, F|~1.2cM from CF|||||6(Met)|| 7.129|1|28|97|7q31|PDS|C|Pendred syndrome||274600|Fd|||Pendred syndrome (2)||||| 7.130|11|13|95|7q31|SPAM1|P|Sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida|binding)|600930|A|||||||| 7.131|6|10|94|7q31|WNT2, INT1L1|P|Wingless-type MMTV integration site 2, human homolog||147870|C|isolated by CMGT with MET|||||6(Irp, Wnt2)|| 7.132|12|4|90|7q31-q32|ABP1|P|Amiloride-binding protein-1||104610|A|||||||| 7.133|6|11|91|7q31-q32|DLD, LAD, PHE3|C|Dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase|complex, 2-oxo-glutarate complex)|246900|REa|||Lipoamide dehydrogenase deficiency (3)||||| 7.134|6|11|91|7q31-q34|BPGM|P|2,3-bisphosphoglycerate mutase||222800|A|||Hemolytic anemia due to bisphosphoglycerate mutase deficiency (1)||||| 7.135|2|2|95|7q31-q35|RP10|C|Retinitis pigmentosa-10 (autosomal dominant)||180105|Fd, REc|between D7S480 and D7S514||Retinitis pigmentosa-10 (2)||||| 7.136|10|23|87|7q31-qter|ODCP, ODC2|C|Ornithine decarboxylase pseudogene||165650|REa|||||||| 7.137|1|21|97|7q31.1-q31.2|NRCAM|P|Neuronal cell adhesion molecule||601581|A|||||||| 7.138|8|11|91|7q31.1-q31.3|LAMB1|C|Laminin, beta 1||150240|REa, A, Ch|?7q22||?Cutis laxa, marfanoid neonatal type (1)|||1(Lamb1)|| 7.139|10|23|92|7q31.2|CFTR, CF|C|Cystic fibrosis transmembrane conductance regulator||219700|F, Fd|distal and 5' to MET||Cystic fibrosis (3); Congenital bilateral absence of vas deferens|(3)||6(Cftr)|| 7.140|2|19|97|7q31.2-q31.3|CAPZA2, CAPPA2|P|Capping protein (actin filament) muscle Z-line, alpha 2||601571|REc, REn|||||||| 7.141|2|19|97|7q31.3|LEP, OB|C|Leptin (murine obesity homolog)||164160|H, REa, REc, A|in mouse cen-Cola-2-Met-ob-Cpa-Tcrb-tel||?Obesity (2)|||6(ob)|| 7.142|7|10|95|7q31.3|PTPRZ, PTP18|P|Protein tyrosine phosphatase, receptor-type, zeta polypeptide||176891|REa, A|||||||| 7.143|3|18|94|7q31.3-q32|BCP, CBT|C|Blue cone pigment||190900|REa, A|||Colorblindness, tritan (3)|||6(Bcp)|| 7.144|1|7|95|7q31.3-q32|IMPDH1|P|IMP (inosine monophosphate) dehydrogenase 1||146690|Psh, A|||||||| 7.145|11|12|96|7q32|MEST, PEG1|P|Mesoderm specific transcript (mouse) homolog||601029|A|imprinted maternally|||||6(Mest)|| 7.146|4|1|96|7q32|NRF1|C|Nuclear respiratory factor 1||600879|Psh, A|earlier location = 7q31||||||| 7.147|6|10|94|7q32-q35|FLN2, ABPA|C|Filamin-2 (actin-binding protein-280)||102565|REa||||||6(Fln2)|| 7.148|12|28|89|7q32-q36|EPHT|C|EPH tyrosine kinase/erythropoietin producing hepatoma amplified|sequence (oncogene EPH)|179610|REa, A|||||||| 7.149|7|13|89|7q32-q36|PIP|P|Prolactin-inducible protein||176720|REa, A|||||||| 7.150|6|11|91|7q32-qter|CPA1|C|Carboxypeptidase A||114850|REa, Fd|both CPA and TRY1 = serine proteases|||||6(Cpa)|| 7.151|10|8|96|7q32-qter|PRSS1, TRY1|C|Protease, serine, 1 (trypsin 1)||276000|REa, Fd, REn|||Trypsinogen deficiency (1); Pancreatitis, hereditary, 167800 (3)|||6(Try1)|| 7.152|7|10|95|7q32.1|SLOS, SLO|P|Smith-Lemli-Opitz syndrome||270400|Ch|||Smith-Lemli-Opitz syndrome (2)||||| 7.153|1|5|93|7q33|CALD1, CDM|P|Caldesmon-1||114213|A|||||||| 7.154|7|11|93|7q33|KEL|C|Kell blood group||110900|Fd, REa, A|close linkage to CFTR||||||| 7.155|9|27|94|7q33|PTN, NEGF1|C|Pleiotrophin (heparin binding growth factor 8, neurite|growth-promoting factor 1)|162095|REa, A||||||6(Ptn)|| 7.156|12|31|96|7q33-q35|TIM|P|Oncogene TIM||600888|REa, A|||||||| 7.157|7|11|93|7q34|BRAF|C|Murine sarcoma viral (v-raf) oncogene homolog B1||164757|A, REa|pseudogene BRAF2 on Xq13 or 7q|||||10(Braf)|| 7.158|1|18|96|7q34|SSBP|P|Single-stranded DNA-binding protein||600439|Psh, A|||||||| 7.159|11|16|94|7q34|TBXAS1|C|Thromboxane A synthase 1 (platelet)||274180|A|||Thromboxane synthase deficiency (2)||||| 7.160|1|4|93|7q35|ALDR1|P|Aldehyde reductase-1 (low Km aldose reductase)||103880|REa, A|||||||| 7.161|8|30|95|7q35|CLCN1|P|Chloride channel-1, skeletal muscle||118425|H, REa, Fd|||Myotonia congenita, recessive, 255700 (3); Myotonia congenita,|dominant, 160800 (3); Myotonia levior, recessive (3)||6(adr, Clc1)|Abdalla (1992); Koch (1992)| 7.162|10|8|96|7q35|PCTT|C|Pancreatitis, hereditary||167800|Fd|||Pancreatitis, hereditary (2)||||| 7.163|4|29|90|7q35|TCRB|C|T-cell antigen receptor, beta polypeptide||186930|REa, A|7q32 by A; cluster of V, D, J, and C genes; many V, two D-J-C|triplexes||||6(Tcrb)|| 7.164|8|11|91|7q35-q36|CHRM2|C|Cholinergic receptor, muscarinic, 2||118493|A, REa, Fd|||||||| 7.165|1|23|90|7q35-q36|D7S437, MS3315|P|Minisatellite 33.15||157570|REa, A|||||||| 7.166|5|9|95|7q35-q36|HERG, LQT2|C|Long (electrocardiographic) QT syndrome-2||152427|Fd, REn, A|||Long QT syndrome-2 (3)||||| 7.167|11|28|94|7q35-q36|SLC4A2, AE2, EPB3L1|P|Solute carrier family 4, anion exchanger, member 2 (erythrocyte|membrane protein band 3-like 1)|109280|REa, A||||||5(Ae2)|| 7.168|10|13|94|7q36|CDK5|P|Cyclin-dependent kinase 5||123831|A||||||5(cdk5)|| 7.169|3|27|90|7q36|EN2|P|Engrailed-2||131310|REa, A||||||5(En2)|| 7.170|10|4|93|7q36|HPE3, HLP3|C|Holoprosencephaly-3||142945|Ch, Fd|||Holoprosencephaly, type 3 (2)||||Schwartz (1983); Bogart (1990)| 7.171|10|4|91|7q36|HPFH2|L|Hereditary persistence of fetal hemoglobin, heterocellular, Indian|type|142335|Fd|||?Hereditary persistence of fetal hemoglobin, heterocellular,|Indian type (2)|||| 7.172|3|18|94|7q36|NOS3|C|Nitric oxide synthase 3 (endothelial cell)||163729|REa, A, Psh||||||5(Nos3)|| 7.173|9|28|96|7q36|RHEB2|P|Ras homolog enriched in brain 2||601293|A|||||||| 7.174|9|1|95|7q36|SCRA1|P|Sacral agenesis, autosomal dominant (Currarino triad)||176450|Fd|||Sacral agenesis-1 (2)||||| 7.175|12|13|96|7q36|SHH|P|Sonic hedgehog (Drosophila) homolog||600725|Fd, Psh|separate from TPT1||Holoprosencephaly, type 3, 142945 (3)||||| 7.176|5|18|94|7q36|TPT1|C|Triphalangeal thumb-polysyndactyly syndrome||190605|Fd|||Triphalangeal thumb-polysyndactyly syndrome (2)||||| 7.177|7|23|96|7q36.1|HTR5A|P|5-hydroxytryptamine (serotonin) receptor-5A||601305|Psh, REc||||||5(Htr5a)|| 7.178|2|14|95|7q36.1|XRCC2|C|X-ray repair, complementing defective, repair in Chinese hamster|cells 2|600375|REa, R, C|||||||| 7.179|10|23|87|Chr.7|DIA2|L|Diaphorase-2||125870|S|||||||| 7.180|9|12|93|Chr.7|DPP6|P|Dipeptidylpeptidase VI||126141|Psh||||||5(Dppx, Dpp6)|| 7.181|1|20|97|Chr.7|EPIM|P|Epimorphin||132350|A||||||5(Epim)|| 7.182|12|29|89|Chr.7|FPSL2|P|Farnesylpyrophosphate synthetase-2||134632|REa|||||||| 7.183|10|23|87|Chr.7|GCF1|P|Growth rate controlling factor-1||139220|S|||||||| 7.184|12|14|95|Chr.7|HTK|P|Hepatoma transmembrane kinase||600011|REa|||||||| 7.185|10|23|87|Chr.7|NHCP2|P|Nonhistone chromosomal protein-2||118880|S|||||||| 7.186|12|4|95|Chr.7|POLD2|P|Polymerase (DNA directed), delta 2, regulatory subunit (50kD)||600815|Psh|||||||| 7.187|11|19|96|Chr.7|UBE2H, UBCH2, UBC8|P|Ubiquitin-conjugating enzyme E2H (homologous to yeast UBC8)||601082|REa|||||||| 7.188|10|23|87|Chr.7|UP|C|Uridine phosphorylase||191730|S|||||||| 7.189|3|22|93|Chr.7|ZP3A|P|Zona pellucida glycoprotein-3A (sperm receptor)||182889|REa||||||5(Zp3)|| 7.190|3|22|93|Chr.7|ZP3B|P|Zona pellucida glycoprotein-3B (sperm receptor)||195002|REa|||||||| 8.1|10|13|94|8pter-p22|EPMR|P|Epilepsy, progressive, with mental retardation||600143|Fd|||Epilepsy, progressive, with mental retardation (2)||||| 8.2|2|11|96|8pter-p21|DEF5|P|Defensin 5, Paneth cell-specific||600472|REa|||||||| 8.3|2|11|96|8pter-p21|DEF6|P|Defensin 6, Paneth cell-specific||600471|REa|||||||| 8.4|10|8|88|8p23.3-p23.1|F7R, F7E|C|Coagulation factor VII regulator||134450|D|||||||| 8.5|11|20|95|8p23.1-p21.3|AAC1, NAT1|P|Arylamine N-acetyltransferase-1||108345|REa, A||||||8(Nat1)|| 8.6|11|20|95|8p23.1-p21.3|AAC2, NAT2|P|Arylamine N-acetyltransferase-2||243400|REa, A|acetylation polymorphism|||||8(Nat2)|| 8.7|6|17|94|8p23.1-q22|DGPT|P|Farnesyl-diphosphate farnesyltransferase 1||184420|Psh, A|||||||| 8.8|9|29|96|8p23.1-p22|GATA4|C|GATA-binding protein 4||600576|REa, H, A|probably close to CLU|||||14(Gata4)|| 8.9|10|23|92|8p23|CRS1C|L|Cryptidin-related sequence-1C||123555|H||||||8(Defcrrs1)|| 8.10|5|24|90|8p23|DEF1, MRS|P|Defensin-1 (myeloid-related sequence)||125220|REa, A||||||8(Defcr)|| 8.11|5|11|95|8p23-p22|BLK|P|BLK nonreceptor tyrosine kinase||191305|REa, A||||||14(Blk)|| 8.12|7|12|92|8p22|CTSB, CPSB|C|Cathepsin B||116810|REa, A, Psh, D|13q14 by rat probe||||||| 8.13|3|22|93|8p22|LPL, LIPD|C|Lipoprotein lipase||238600|REa, A, Fd|||Hyperlipoproteinemia I (1); Lipoprotein lipase deficiency (3);|Hyperchylomicronemia syndrome, familial (3); Combined hyperlipemia,|familial (3)|8(Lpl)|| 8.14|3|22|93|8p22|MSR1|C|Macrophage scavenger receptor||153622|REa, Fd, A|~11cM distal to LPL||||||| 8.15|9|18|96|8p22|N33|P|Putative prostate cancer tumor suppressor||601385|REn|||?Prostate Cancer (1)||||| 8.16|1|11|95|8p22-p21.3|PCM1|P|Pericentriolar material 1||600299|A, REn|||||||| 8.17|4|17|97|8p22-p11.2|FAK2|P|Focal adhesion kinase 2||601212|Psh, A|||||||| 8.18|7|13|93|8p22-p11|HGL, HRGA|C|Heregulin, alpha (45kD, ERBB2 p185-activator)||142445|Psh, A|||||||| 8.19|11|4|93|8p22-q11|FNTA|P|Farnesyltransferase, CAAX box, alpha||134635|REa, Psh, A|related FNTAL1 on 11, FNTAL2 on 13|||||8(Fnta)|| 8.20|9|29|96|8p21.3|SLC18A1, VMAT1, VAT1, CGAT|P|solute carrier family 18 (vesicular monoamine), member 1||193002|REa, A||||||19(Slc18a1)|| 8.21|11|20|95|8p21.1|EPB49, DMT|P|Erythrocyte membrane protein band 49 (dematin)||125305|REa, A||||||14(Epb4.9)|| 8.22|10|23|87|8p21.1|GSR|C|Glutathione reductase||138300|S, D|||Hemolytic anemia due to glutathione reductase deficiency (1)|||8(Gr1)|| 8.23|12|13|96|8p21.1|GULO, GULOP|P|Gulonolactone (L-) oxidase pseudogene||240400|REb, A|||Scurvy (3)||||| 8.24|9|14|92|8p21|ADRA1C|P|Adrenergic, alpha-1C-, receptor||104221|REc, Fd|.03cM from NEFL||||||| 8.25|11|4|93|8p21|BMP1|C|Bone morphogenetic protein-1||112264|H, REa, A|1kb 3' to SFTP2|||||14(Bmp1)|| 8.26|1|2|91|8p21|NEFL|C|Neurofilament, light polypeptide||162280|REa, A|?NFI on 2cen or 7q|||||14(Nfl)|| 8.27|10|18|96|8p21|PNOC, PPNOC|P|Prepronociceptin||601459|REc|||||||| 8.28|3|1|94|8p21|SFTP2|C|Pulmonary surfactant apoprotein-2 (SP-C)||178620|REa, A, Fd||||||14(Sftp2)|| 8.29|6|11|93|8p21-p12|CLU, CLI, SGP2, TRPM2|C|Clusterin (complement lysis inhibitor, SP-40,40; sulfated glycoprotein|2; testosterone-repressed prostate message-2; apolipoprotein J)|185430|REa, REb, A, RE|||?{Atherosclerosis, susceptibility to} (3)|||14(Sgp2, Clu)|| 8.30|5|14|95|8p21-p12|EPHX2|P|Epoxide hydrolase 2, cytoplasmic||132811|A||||||14(Ephx2)|| 8.31|3|14|96|8p21-p12|GTF2E2|P|General transcription factor IIE, polypeptide 2 (beta subunit, 34kD)||189964|REc|||||||| 8.32|6|12|92|8p21-p11.2|LHRH, GNRH|P|Luteinizing hormone releasing hormone|(gonadotropin releasing hormone)|152760|REa, A|||?Hypogonadotropic hypogonadism due to GNRH deficiency,|227200 (1)||14(Gnrh)|| 8.33|12|17|87|8p12|PLAT, TPA|C|Plasminogen activator, tissue type||173370|REa, A, REb|||Plasminogen activator deficiency (1)|||8(Plat)|| 8.34|3|6|94|8p12-p11.2|ADRB3|P|Adrenergic, beta-3-, receptor||109691|A||||||8(Adrb3)|| 8.35|11|5|95|8p12-p11.2|GPR9|P|G protein-coupled receptor 9||600894|A|||||||| 8.36|7|13|93|8p12-p11.2|PPP2CB|C|Protein phosphatase-2 (formerly 2A), catalytic subunit, beta isoform||176916|Psh, A, REc|pseudogene on 16||||||| 8.37|2|18|96|8p12-p11.2|WRN|C|Werner syndrome||277700|Fd, LD|||Werner syndrome (2)||||Ruprecht (1989); Goto (1992)| 8.38|11|4|93|8p12-p11|IDO|C|Indoleamine 2,3-dioxygenase||147435|Psh, REa, A|||||||| 8.39|8|11|91|8p12-q11.2|CALB1|P|Calbindin 1 (28kD)||114050|REa, A||||||4(Calb)|| 8.40|3|1|94|8p12-q12|MLVAR, GLVR2|C|Murine leukemia virus, amphotropic, receptor for||158378|S, REa|pericentromeric||||||| 8.41|12|30|94|8p12-q13|SPG5A|P|Spastic paraplegia 5A (autosomal recessive)||270800|Fd|||Spastic paraplegia 5A (2)||||| 8.42|6|11|91|8p11.2|ANK1, SPH2|C|Ankyrin-1, erythrocytic||182900|F, Ch, D, REa, A, Fd, REb|||Spherocytosis-2 (3)|||8(nb)|| 8.43|6|10|94|8p11.2|CHRNB3|C|Cholinergic receptor, nicotinic, beta polypeptide-3||118508|REa, A|||||||| 8.44|3|8|95|8p11.2|POLB|C|Polymerase (DNA directed), beta||174760|REa, Fd, A||||||8(Polb)|| 8.45|2|12|96|8p11.2|STAR|P|Steroidogenic acute regulatory protein||600617|REa, A|||Lipoid adrenal hyperplasia, 201710 (3)||||| 8.46|11|20|95|8p11.2-p11.1|CEBPD|C|CCAAT/enhancer-binding protein (C/EBP), delta||116898|A, REa|earlier mapped ot 8q11|||||16(Cebpd)|| 8.47|11|20|95|8p11.2-p11.1|FGFR1, FLT2|C|Fibroblast growth factor receptor-1 (fms-related tyrosine kinase-2)||136350|REa, A|||Pfeiffer syndrome, 101600 (3)||||| 8.48|10|22|96|8p11|MOZ|P|Monocytic leukemia zinc finger protein||601408|Ch|||||||| 8.49|8|21|91|8p11-q21|RP1|P|Retinitis pigmentosa-1||180100|Fd|||Retinitis pigmentosa-1 (2)||||| 8.50|11|25|96|8q|CCAL2|P|Chondrocalcinosis 2||600668|Fd|||Chondrocalcinosis with early-onset osteoarthritis (2)||||| 8.51|10|27|93|8q|EBN2|P|Epilepsy, benign neonatal-2 (benign familial neonatal convulsions)||121201|Fd|?same as EGI||Epilepsy, benign neonatal, type 2 (2)||||| 8.52|10|23|87|8q|GPB|C|Glycerol phosphatase, beta-||109640|S|||||||| 8.53|10|28|93|8q11|HYRC1, DNPK1|C|Hyperradiosensitivity of murine SCID mutation, complementing-1||202500|C, A|||?Severe combined immunodeficiency, type I (1)|||16(scid)|| 8.54|7|13|93|8q11|MOS|C|Oncogene MOS, Moloney murine sarcoma virus||190060|REa, A, REb||||||4(Mos)|| 8.55|1|29|96|8q11-q12|CA8, CALS, CARP|P|Carbonic anhydrase VIII||114815|REa, A||||||4(Car)|| 8.56|10|21|92|8q11-q12|CYP7|P|Cytochrome P450, subfamily VII (cholesterol 7-alpha-monooxygenase)||118455|REa, A|||||||| 8.57|3|18|94|8q11.2|OPRK1|C|Opiate receptor, kappa 1||165196|REa, A|||||||| 8.58|7|8|89|8q12|SGPA, PSA|P|Salivary gland pleomorphic adenoma||181030|Ch|12q13-q15 affected in subset||Salivary gland pleomorphic adenoma (2)||||| 8.59|4|10|90|8q12-q13|IL7|P|Interleukin-7||146660|REa, A|||||||| 8.60|4|23|96|8q13|CRH|C|Corticotropin releasing hormone||122560|REa, A|||ACTH deficiency, 201400 (2)|||3(Crh)|| 8.61|2|18|96|8q13-q21|GEM|P|GTP-binding protein overexpressed in skeletal muscle||600164|Fd||||||4(Gem)|| 8.62|1|9|94|8q13-q21.1|CMT4A|P|Charcot-Marie-Tooth neuropathy-4A (autosomal recessive)||214400|Fd|||Charcot-Marie-Tooth disease, type IVA (2)||||| 8.63|10|13|94|8q13-q22|PDE7A, HCP1|P|Phosphodiesterase 7A||171885|REa|||||||| 8.64|8|22|90|8q13-qter|LYN|P|Yamaguchi sarcoma viral (v-yes-1) related oncogene homolog||165120|REa||||||4(Lyn)|| 8.65|12|11|95|8q13.1-q13.3|TTPA, TTP1, AVED|C|Tocopherol (alpha) transfer protein||600415|Fd, LD, REc, A, REa|||Ataxia with isolated vitamin E deficiency, 277460 (3)||||| 8.66|2|3|97|8q13.3|EYA1, BOP|C|Eyes absent, drosophila, human homolog of, 1||601653|REc, Fd, Ch|||Branchiootorenal syndrome, 113650 (3)||||Haan (1989); Kumar (1992)| 8.67|10|18|96|8q13.3|UQOR22|P|NADH-ubiquinone oxidoreductase, B22 subunit||601445|REc|||||||| 8.68|9|14|89|8q21|BN51T, TSBN51|P|Temperature sensitive complementation, cell cycle specific, tsBN51||187280|REa, A|block in progression through G1||||||| 8.69|10|13|94|8q21|CYP11B1, P450C11|C|Cytochrome P450, subfamily XIB, polypeptide-1; 11-beta-hydroxylase;|corticosteroid methyl-oxidase II (CMO II)|202010|REa, A, Ch|chimeric CYP11B1/CYP11B2 gene = anti-Lepore-like||Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase|deficiency (3); Aldosteronism, glucocorticoid-remediable (3)|||White (1991)| 8.70|3|27|90|8q21|CYP11B2|C|Cytochrome P450, subfamily XIB, polypeptide-2||124080|REa|||CMO II deficiency (3)||||Lifton (1992); Mitsuuchi (1992)| 8.71|2|28|94|8q21.1|PXMP3, PAF1, PMP35|C|Peroxisomal membrane protein-3 (35kD)||170993|RE|||Zellweger syndrome-3 (3)||||| 8.72|10|23|87|8q21.1-qter|GLYB|P|Glycine auxotroph B, complementation of hamster||138480|S|gly(-)B||||||| 8.73|10|4|93|8q21.3-q22.1|PMP2|P|Peripheral myelin protein-2||170715|REb, A|not involved in CMT4A||||||| 8.74|3|1|88|8q22|CAC@|C|CARBONIC ANHYDRASE CLUSTER|||REa, H, A|||||||| 8.75|10|13|94|8q22|CA1|C|Carbonic anhydrase I||114800|REa, H, A||||||3(Car1)|| 8.76|1|19|90|8q22|CA2|C|Carbonic anhydrase II||259730|REa, H|CA1, CA2 linked in monkey and mouse||Renal tubular acidosis-osteopetrosis syndrome (3)|||3(Car2)|| 8.77|6|4|90|8q22|CA3|C|Carbonic anhydrase III||114750|REa, A||||||3(Car3)|| 8.78|1|20|95|8q22|CBFA2T1, AML1T1, ETO|P|Core-binding factor, alpha subunit 2; translocated to, 1; cyclin|D-related|133435|Ch|fused with AML1 in t(8;21)|||||4(Cbfa2t1h)|| 8.79|9|19|91|8q22|MYBL1|P|Avian myeloblastosis viral (v-myb) oncogene homolog like-1||159405|REa, A|||||||| 8.80|11|27|94|8q22|ODF1|P|Outer dense fiber of sperm tails 1||182878|REa, A|||||||| 8.81|6|29|94|8q22-q23|CHS1|P|Cohen syndrome 1||216550|Fd|||Cohen syndrome (2)||||| 8.82|2|19|91|8q22-q24|HSPG1|P|Heparan sulfate proteoglycan, fibroblast cell surface-associated||142460|REa, A|||||||| 8.83|1|4|96|8q22.2|SGM1, KFSL|P|segmentation syndrome 1 (Klippel-Feil syndrome with laryngeal|malformation)|148900|Ch|inv(8)(q22.2q22.3)||Klippel-Feil syndrome with laryngeal malformation (2)||||| 8.84|3|5|96|8q22.3-qter|SLA|P|Src-like-adapter||601099|REa||||||15(Slap)|| 8.85|3|8|95|8q23|TRHR|C|Thyrotropin-releasing hormone receptor||188545|A, H, REa||||||15(Trhr)|| 8.86|5|14|95|8q23|UND|P|Undulin (fibronectin-tenascin-related)||600479|A|||||||| 8.87|10|23|87|8q23-q24|PENK|P|Proenkephalin||131330|REa, A|||||||| 8.88|1|8|95|8q23-q24|SNT2B1, A1B, SNTB1|P|Syntrophin, beta 1 (dystrophin-associated protein A1, 59kD, basic|basic component 1)|600026|REa, A|||||||| 8.89|5|24|90|8q24|EBS1|C|Epidermolysis bullosa simplex-1 (Ogna)||131950|F|closely linked to GPT||Epidermolysis bullosa, Ogna type (2)||||| 8.90|9|11|95|8q24|EGI|P|Epilespy, generalized, idiopathic||600669|Fd|?same as EBN2||Epilepsy, generalized, idiopathic (2)||||| 8.91|1|11|89|8q24|GPT|C|Glutamic-pyruvate transaminase (alanine aminotransferase)||138200|S, EM, H, Fd, D||||||15(Gpt1)|| 8.92|10|3|96|8q24|HMSNL, NMSL|P|Herediatry motor and sensory neuropathy, Lom type||601455|Fd, LD|||Hereditary motor and sensory neuropathy, Lom type (2)||||| 8.93|2|22|92|8q24|HPV18I1|P|Human papillomavirus type 18 integration site-1||167959|A|||||||| 8.94|9|2|96|8q24|PLTN|C|Plectin||601282|A, Psh, Fd|||Muscular dystrophy with epidermolysis bullosa simplex, 226670 (3)||||| 8.95|10|23|87|8q24|PVT1|P|Oncogene PVT-1 (MYC activator)||165140|RE, Ch|||||||| 8.96|9|2|96|8q24|RIGE|P|Retinoic acid induced gene E||601384|A|||||||| 8.97|10|23|87|8q24|VMD1|C|Macular dystrophy, atypical vitelliform||153840|F|5cm from GPT||Macular dystrophy, atypical vitelliform (2)||||| 8.98|7|13|93|8q24|ZNF7, KOX4|C|Zinc finger protein-7 (KOX4)||194531|A, REa|||||||| 8.99|9|28|96|8q24|ZNF16, KOX9|P|Zinc finger protein 16 (KOX 9)||601262|A, REc|||||||| 8.100|2|20|97|8q24-qter|PLA2L|P|Phospholipase A2-like||601658|A, R|||||||| 8.101|5|14|95|8q24-qter|PTK2, FADK|P|PTK2 protein tyrosine kinase||600500|Psh, H||||||15(Fadk)|| 8.102|7|13|93|8q24.1|NOV|P|Nephroblastoma overexpressed gene||164958|REa, A|proximal to MYC|||||15(nov)|| 8.103|2|16|96|8q24.1|PDNP2|P|Phosphodiesterase I/nucleotide pyrophosphatase 2||601060|A|||||||| 8.104|6|5|94|8q24.11-q24.13|EXT1|C|Exostoses (multiple) 1||133700|Ch, Fd|distal to TRPS1||Exostoses, multiple, type 1 (2)||||Ogle (1991); Le Merrer (1992)| 8.105|10|23|87|8q24.11-q24.13|LGCR, LGS, TRPS2|C|Langer-Giedion syndrome chromosome region||150230|Ch|contiguous gene syndrome involving TRPS1 and EXT1||Langer-Giedion syndrome (2)||||| 8.106|9|14|89|8q24.12|TRPS1|P|Trichorhinophalangeal syndrome, type I||190350|Ch|proximal to EXT1||Trichorhinophalangeal syndrome, type I (2)||||| 8.107|12|9|91|8q24.12-q24.13|MYC|C|Avian myelocytomatosis viral (v-myc) oncogene homolog||190080|REa, A|cen-5'-3'-ter||Burkitt lymphoma (3)|||15(Myc)|| 8.108|11|4|93|8q24.12-q24.13|ZNF34, KOX32|P|Zinc finger protein-34 (KOX32)||194526|REa, A, D|||||||| 8.109|9|19|94|8q24.2|ADCY8, ADCY3|P|Adenylyl cyclase-8 (brain)||103070|A|||||||| 8.110|3|22|93|8q24.2-q24.3|TG|C|Thyroglobulin||188450|A, REa, REb|distal to MYC||Hypothyroidism, hereditary congenital (3); Goiter, adolescent|multinodular (1); Goiter, nonendemic, simple (3)||15(Tgn; cog)|| 8.111|3|18|94|8q24.3|CYC1|C|Cytochrome c1||123980|REa, A|||||||| 8.112|9|29|96|8q24.3|GLI4, HKR4|C|GLI-Kruppel family member GLI4 (oncogene HKR4)||165280|REa, A|||||||| 8.113|3|14|96|8q24.3|GRINA, NMDARA1|C|Glutamate receptor, ionotropic, N-methyl||138251|REa, A, R|||||||| 8.114|8|21|92|Chr.8|CHRNA2|P|Cholinergic receptor, nicotinic, alpha polypeptide-2||118502|REa||||||14(Acra2)|| 8.115|4|9|96|Chr.8|DEF4, HP4|P|Defensin 4, corticostatin||601157|REa|||||||| 8.116|2|3|97|Chr.8|GLRA3|L|Glycine receptor, alpha 3||600421|H||||||8(Glra3)|| 8.117|10|8|88|Chr.8|FRV2|P|Full-length endogenous retroviral sequence-2||136870|REa|||||||| 8.118|1|22|93|Chr.8|PPP3CC, CALNA3|P|protein phosphatase 3 (formerly 2B), catalytic subunit, gamma isoform|(calcineurin A gamma)|114107|REa|||||||| 8.119|7|13|92|Chr.8|RPL30|P|Ribosomal protein L30||180467|Psh|||||||| 8.120|6|4|90|Chr.8|RTS|L|Rothmund-Thomson syndrome||268400|Ch|||?Rothmund-Thomson syndrome (2)||||| 8.121|9|3|91|Chr.8|UQBP, QPC|P|Ubiquinone-binding protein||191330|REa|||||||| 8.122|9|14|89|Chr.8|ZNF1|P|Zinc finger protein-1||194490|REa||||||8(Zfp2)|| 9.1|6|8|89|9pter-p22|ZFY, TDFA|P|ZFY-related autosomal sequence||154230|A|||||||| 9.2|10|23|87|9pter-q12|RLN1|P|Relaxin, H1||179730|REa||||||19(Rln1)|| 9.3|10|23|87|9pter-q12|RLN2|P|Relaxin, H2||179740|REa|||||||| 9.4|10|22|96|9pter-q34|VCP|P|Valosin-containing protein||601023|REa|||||||| 9.5|10|1|95|9p24.1|NFIB|P|Nuclear factor I/B||600728|A||||||?4(Nfib)|| 9.6|4|11|94|9p24|EAAC1|P|High-affinity glutamate transporter EAAC1||133550|REa, A|||?Dicarboxylicaminoaciduria, 222730 (1)||||| 9.7|11|6|95|9p24|INSL4|P|Insulin-like 4 (placenta)||600910|A|||||||| 9.8|10|13|94|9p24|JAK2|P|Janus kinase 2 (a protein-tyrosine kinase)||147796|A||||||19(Jak2)|| 9.9|7|10|91|9p24|OVC|P|Oncogene OVC (ovarian adenocarcinoma oncogene)||164759|Ch|?chr.8 contribution to fusion gene||Ovarian carcinoma (2)||||| 9.10|4|11|94|9p24|VLDLR|C|Very low density lipoprotein receptor||192977|A, Psh||||||19(Vldlr)|| 9.11|10|23|87|9p24-p13|AK3|C|Adenylate kinase-3, mitochondrial||103030|S, D||||||4(Ak3)|| 9.12|1|9|95|9p24-p23|SNF2L2|P|SNF2 (sucrose nonfermenting, yeast, homolog)-like 2||600014|A||||||19(Snf2l2)|| 9.13|6|11|94|9p23|TYRP, CAS2|C|Tyrosinase-related protein 1||115501|Psh, REa, A|||Albinism, brown, 203290 (1)|||4(b;trp1)|| 9.14|1|18|95|9p22|GLDC, HYGN1, GCSP|C|Glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine|cleavage system protein P)|238300|Ch, A|||Hyperglycinemia, isolated nonketotic, type I (3)||||| 9.15|12|14|95|9p22|IFNA1, IFNA@|C|Interferon, alpha 1||147660|REa, A, RE|very close to IFF by Fd, LD; 15-30 genes||Interferon, alpha, deficiency (1)|||4(Ifa)|| 9.16|12|14|95|9p22|INFA2|P|Interferon, alpha 2||147562|D|||||||| 9.17|12|14|95|9p22|INFA4|P|Interferon, alpha 4||147564|D|||||||| 9.18|12|14|95|9p22|INFA5|P|Interferon, alpha 5||147565|D|||||||| 9.19|12|14|95|9p22|IFNA6|P|Interferon, alpha 6||147566|D|||||||| 9.20|12|14|95|9p22|IFNA7|P|Interferon, alpha 7||147567|D|||||||| 9.21|12|15|95|9p22|IFNA8|P|Interferon, alpha 8||147568|D|||||||| 9.22|12|15|95|9p22|IFNA10|P|Interferon, alpha 10||147577|D|||||||| 9.23|12|15|95|9p22|IFNA13|P|Interferon, alpha 13||147578|D|||||||| 9.24|12|15|95|9p22|IFNA14|P|Interferon, alpha 14||147579|D|||||||| 9.25|12|15|95|9p22|IFNA16|P|Interferon, alpha 16||147580|D|||||||| 9.26|12|15|95|9p22|IFNA17|P|Interferon, alpha 17||147583|D|||||||| 9.27|12|15|95|9p22|IFNA21|P|Interferon, alpha 21||147584|D|||||||| 9.28|7|13|93|9p22|MLLT3, AF9|P|Myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila)|homolog), translocated to, 3|159558|Ch|fuses with ALL1||||||| 9.29|11|7|89|9p22-p21|LALL|P|Lymphomatous acute lymphoblastic leukemia||247640|Ch|||Leukemia, acute lymphoblastic (2)||||| 9.30|10|23|87|9p22-p13|ACO1|C|Aconitase, soluble||100880|S||||||4(Aco1)|| 9.31|11|3|95|9p21|CDKN2A, MTS1, P16, MLM, CMM2|C|Cyclin-dependent kinase inhibitor 2A (p16, inhibits CDK4)||600160|RE, D, Fd|||Melanoma, 155601 (3)||||| 9.32|7|10|95|9p21|CDKN2B, MTS2, P15, INK4B|P|Cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)||600431|A|tandem with MTS1||||||| 9.33|2|24|97|9p21|ELAVL2, HELN1|P|ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2||601673|Psh, A|||||||| 9.34|4|10|90|9p21|IFNB1|C|Interferon, beta-1, fibroblast||147640|REa, A, Fd, LD, RE|distal to IFL; ?9p23-p22; IFF duplicate in some|||||4(Ifb)|| 9.35|1|8|97|9p21|MFT, TEM|P|Trichoepithelioma, multiple familial||601606|Fd|||Trichoepithelioma, multiple familial (2)||||| 9.36|8|28|92|9p21|MTAP|C|Methylthioadenosine phosphorylase||156540|S, D|||||||| 9.37|1|6|93|9p21|RPS6|C|Ribosomal protein S6||180460|Psh, A|||||||| 9.38|1|7|95|9p21|TEK, TIE2|P|TEK tyrosine kinase, endothelial||600221|A||||||4(tek)|| 9.39|4|18|94|9p21-p12|NPR2, ANPRB|P|Natriuretic peptide receptor B/guanylate cyclase B||108961|REa, A|||||||| 9.40|9|4|91|9p21-p12|RMRP, RMRPR|P|Mitochondrial RNA-processing endoribonuclease||157660|REa, A||||||4(Rmrpn)|| 9.41|1|17|95|9p21-q21|AMCD1, DA1|P|Arthrogryposis multiplex congenita, distal, type 1||108120|Fd|||Distal arthrogryposis-1 (2)||||| 9.42|1|22|96|9p13|ALDH5|C|Aldehyde dehydrogenase-5||100670|REa, A|||||||| 9.43|4|1|96|9p13|AQP3|C|Aquaporin-3||600170|A|incorrectly mapped to chr.7||||||| 9.44|9|30|95|9p13|CHH|P|Cartilage-hair hypoplasia||250250|Fd, LD, REc|||Cartilage-hair hypoplasia (2)||||| 9.45|1|2|96|9p13|CNTFR|C|Ciliary neurotrophic factor receptor||118946|Psh, R, A||||||4(Cntfr)|| 9.46|10|23|87|9p13|GALT|C|Galactose-1-phosphate uridyltransferase||230400|S, D, F|||Galactosemia (3)|||4(Galt)|| 9.47|1|24|91|9p13|GGTB2|P|Glycoprotein-4-beta-galactosyltransferase-2 (EC 2.4.1.22)||137060|REa, A||||||4(Ggtb)|| 9.48|2|11|96|9p13|IL11RA|C|Interleukin 11 receptor, alpha||600939|A||||||4(Il11ra, Etl2)|| 9.49|5|27|93|9p13|PAX5, BSAP|C|Paired box homeotic gene-5 (B-cell lineage specific activator|protein)|167414|REa, A, Fd, Ch||||||4(Pax5)|| 9.50|1|1|96|9p13|TPM2|P|Tropomyosin 2 (beta)||190990|REa, A|||||||| 9.51|11|13|96|9p12|BAG1|P|BCL2-associated athanogene||601497|REa, A|||||||| 9.52|6|8|95|9p12-p11|SHB|P|SHB adaptor protein (a Src homology 2 protein)||600314|Psh, A|||||||| 9.53|2|18|96|9p12-q12|PGM5|P|Phosphoglucomutase 5||600981|A|||||||| 9.54|3|8|95|9p11|MROS|L|Melkersson-Rosenthal syndrome||155900|Ch|||?Melkersson-Rosenthal syndrome (2)||||| 9.55|4|24|96|9p1-q1|FKHL9|P|Forkhead (Drosophila)-like 9||601092|A|||||||| 9.56|2|19|96|9p1-q1|IBM2|P|Inclusion body myopathy, autosomal recessive||601073|Fd|||Inclusion body myopathy, autosomal recessive (2)||||| 9.57|11|4|91|9p|CD72, LYB2|P|CD72 antigen||107272|REa||||||4(Lyb2)|| 9.58|10|1|95|9p|TLN|P|Talin||186745|Psh|||||||| 9.59|1|11|95|9p|VMCM|C|Venous malformations, multiple cutaneous and mucosal||600195|Fd|||Venous malformations, multiple cutaneous and mucosal (2)||||| 9.60|6|11|94|9cen-q34|FPGS|C|Folylpolyglutamate synthetase||136510|S, H||||||2(Fpgs)|| 9.61|1|6|97|9q|PTPRD|P|Protein tyrosine phosphatase, receptor type, delta polypeptide||601598|H||||||4(Ptprd)|| 9.62|1|25|91|9q11-q22|ANX1, LPC1|P|Annexin I (lipocortin I)||151690|REa, A||||||19(Lpc1)|| 9.63|10|23|87|9q12|DNCM|P|Cytoplasmic membrane DNA||126330|A|in 9qh||||||| 9.64|11|12|96|9q13|CMD1B, CMPD1, FDC|C|Cardiomyopathy, familial dilated 1B||600884|Fd|||Cardiomyopathy, familial dilated 1B (2)||||| 9.65|9|19|91|9q13|PRKACG|P|Protein kinase, cAMP-dependent, catalytic, gamma||176893|REa, A|||||||| 9.66|2|12|96|9q13-q21|DFNB7|P|Deafness, autosomal recessive 7||600974|Fd|||Deafness, autosomal recessive 7 (2)|||?19(dn)|| 9.67|10|1|95|9q13-q21.1|FRDA, FARR|C|Friedreich ataxia||229300|Fd|||Friedreich ataxia (2); Friedreich ataxia with retained reflexes (2)||||| 9.68|1|28|88|9q21|ALDH1|P|Aldehyde dehydrogenase-1, soluble||100640|REa, A||||||19(Ahd2)|| 9.69|3|8|95|9q21|GCNT1|P|Glucosaminyl (N-acetyl) transferase 1, core 2|(beta-1,6-N-acetylglucosaminyltransferase)|600391|A||||||13(Gcnt1)|| 9.70|3|9|95|9q21|GCNT2|P|Glucosaminyl (N-acetyl) transferase 2, I-branching enzyme||600429|A|||[Ii blood group, 110800] (1)||||| 9.71|2|18|96|9q21|GNAQ|P|Guanine nucleotide binding protein (G protein), q||600998|REa, A|pseudogene on 2q||||||| 9.72|9|28|96|9q21|IARS|P|Isoleucine-tRNA synthetase||600709|Psh, A|||||||| 9.73|10|20|92|9q21-q22|COL15A1|P|Collagen, type XV, alpha-1 polypeptide||120325|REa, A|||||||| 9.74|3|22|93|9q21-q22|CTSL|C|Cathepsin L||116880|REa, A, Psh|\`like\' sequence on 10q23-q24|||||13(Ctsl)|| 9.75|3|18|94|9q21.3-q22.1|GAS1|C|Growth arrest-specific gene-1||139185|Psh, A||||||13(Gas1)|| 9.76|4|9|96|9q21.32-q21.33|HNRPK|C|Heterogeneous nuclear ribonucleoprotein K||600712|REa, A|||||||| 9.77|12|17|87|9q22|ALDOB|C|Aldolase B, fructose-bisphosphatase||229600|REb, REa, A, D|||Fructose intolerance (3)||||| 9.78|2|12|96|9q22|CSMF|C|Chondrosarcoma, extraskeletal myxoid, fused to EWS in||600542|Ch, A|||Chondrosarcoma, extraskeletal myxoid (1)||||| 9.79|11|17|94|9q22|HSD17B3, EDH17B3|P|Hydroxysteroid (17-beta) dehydrogenase 3||264300|A|||Pseudohermaphroditism, male, with gynecomastia (3)||||| 9.80|1|7|95|9q22|SYK|P|Spleen tyrosine kinase||600085|A||||||13(Syk)|| 9.81|10|13|94|9q22-q31|ABC1|P|ATP-binding cassette 1||600046|A|||||||| 9.82|1|9|96|9q22.1|NTRK2, TRKB|P|Neurotrophic tyrosine kinase, receptor, type 2||600456|REa, A|||||||| 9.83|9|9|96|9q22.1-q22.3|HSN1, HSAN1|P|Hereditary sensory neuropathy, type 1||162400|Fd|||Neuropathy, hereditary sensory and autonomic, type 1 (2)||||| 9.84|12|4|95|9q22.2-q22.3|FBP1|C|Fructose-bisphosphatase 1||229700|A, Fd, REc|||Fructose-bisphosphatase deficiency (1)||||| 9.85|9|19|91|9q22.2-q22.3|TMOD|C|Tropomodulin||190930|A||||||4(Tmod)|| 9.86|11|2|95|9q22.3|FACC|C|Fanconi anemia, complementation group C||227645|A, Fd|||Fanconi anemia, type C (3)|||13(Facc)|Strathdee (1992); Verlander (1992)| 9.87|10|22|96|9q22.3|PTCH, NBCCS, BCNS|C|Patched (drosophila) homolog||601309|R, Fd, D|||Basal cell nevus syndrome, 109400 (3); Basal cell carcinoma,|sporadic (3)||13(Ptc)|| 9.88|9|12|93|9q31|ESS1|P|Epithelioma, self-healing, squamous 1, Ferguson-Smith type||132800|Fd|?allelic to NBCCS||Epithelioma, self-healing, squamous 1, Ferguson-Smith type (2);|?Basal cell carcinoma (2)|||| 9.89|5|22|92|9q31|NBCCS, BCNS|C|Nevoid basal cell carcinoma syndrome||109400|Fd, D|||Basal cell nevus syndrome (2)||||| 9.90|2|9|92|9q31|TAL2|P|T-cell acute lymphocytic leukemia-2||186855|REa, A, RE, Ch|33kb from breakpoint in t(7;9)||Leukemia-2, T-cell acute lymphoblastic (3)|||4(Tal2)|| 9.91|5|9|95|9q31|TXN|C|Thioredoxin||187700|A, Psh|incorrectly assigned to 3|||||4(Txn)|| 9.92|5|27|93|9q31-q33|DYS|P|Dysautonomia (Riley-Day syndrome, hereditary sensory autonomic|neuropathy type III)|223900|Fd, LD|||Dysautonomia, familial (2)||||| 9.93|3|9|95|9q31-q33|FCMD|P|Fukuyama type congenital muscular dystrophy||253800|Fd, LD|||Fukuyama type congenital muscular dystrophy (2); ?Walker-Warburg|syndrome, 236670 (2)|||| 9.94|9|19|88|9q31-qter|APPL1|P|Amyloid beta (A4) precursor protein-like-1||104740|A|||||||| 9.95|9|22|96|9q31.3-q32|MUSK|P|Receptor tyrosine kinase MuSK||601296|A||||||4(Musk)|| 9.96|7|13|93|9q32|AFDN|L|Acrofacial dysostosis, Nager type||154400|Ch|||?Acrofacial dysostosis, Nager type (2)||||| 9.97|1|6|93|9q32-q33|AMBP, ITIL, ITI, HCP|C|Alpha-1-microglobulin/bikunin precursor; inter-alpha-trypsin|inhibitor, light chain; protein HC|176870|REa, A, H||||||4(Intin4)|| 9.98|1|7|95|9q32-q33.3|PTGS1|P|Prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and|cyclooxygenase)|176805|REa, A|||||||| 9.99|12|22|89|9q32-q34|DYT1|C|Dystonia-1, torsion (autosomal dominant)||128100|Fd|||Torsion dystonia (2)||||| 9.100|10|13|94|9q32-q34|WI|L|\'Whirler' deafness, human homolog of||193675|H||||||4(wi)|| 9.101|3|9|95|9q33|FTZF1, FTZ1, SF1|P|Fushi tarazu factor (Drosophila) homolog 1||184757|A||||||2(Ftzf1)|| 9.102|3|22|93|9q33|HXB|C|Hexabrachion (tenascin)||187380|REa, A|proximal to ABL|||||4(Hxb)|| 9.103|3|15|92|9q33-q34|GGTA1, GLYT2|P|Glycoprotein, alpha-galactosyltransferase-1||104175|REa, A|processed pseudogene GGTA1P on 12q14-q15||||||| 9.104|6|11|94|9q33-q34|PBX3|C|Pre-B-cell leukemia transcription factor-3||176312|A, H||||||2(Pbx3)|| 9.105|9|28|96|9q33-q34|SARD, SAR|L|Sarcosine dehydrogenase||268900|H|||[Sarcosinemia] (2)|||2(sar)|| 9.106|1|11|89|9q33-q34|SPTAN1|C|Spectrin, alpha, nonerythrocytic-1 (alpha-fodrin)||182810|REa, A||||||2(Spna2)|| 9.107|10|1|95|9q33-q34|TGFBR1|P|Transforming growth factor, beta receptor I (activin A receptor type|II-like kinase, 53kD)|190181|Psh, A|||||||| 9.108|10|23|87|9q33-qter|ITO|I|Hypomelanosis of Ito||146150|X/A|see chr.15||?Hypomelanosis of Ito (2)||||Lungarotti (1991)| 9.109|7|13|93|9q33.1|PAPPA|P|Pregnancy-associated plasma protein A||176385|A||||||4(Pappa)|| 9.110|10|13|94|9q34|ABC2|P|ATP-binding cassette 2||600047|A|||||||| 9.111|10|23|87|9q34|ABO|C|ABO blood group||110300|F, Fc|linked to AK1||||||| 9.112|4|10|90|9q34|ALAD|C|Aminolevulinate, delta-, dehydratase||125270|F, S, A, REa|linked to ABO; ORM-ALAD-AK-ABO||Porphyria, acute hepatic (3); {Lead poisoning, susceptibility to} (3)|||4(Lv)|| 9.113|8|22|90|9q34|ASS|C|Argininosuccinate synthetase||215700|S, D, REa, Fd|14 pseudogenes on 11 chromosomes||Citrullinemia (3)|||2(Ass1)|| 9.114|10|13|94|9q34|C8G|C|Complement component-8, gamma polypeptide||120930|REa, H||||||2(C8g)|| 9.115|2|18|96|9q34|CACNL1A5|P|Calcium channel, L type, alpha 1 polypeptide, isoform 5||601012|A|||||||| 9.116|5|14|95|9q34|DBH|C|Dopamine-beta-hydroxylase||223360|F, A|tightly linked to ABO||Dopamine-beta-hydroxylase deficiency (1)|||2(Dbh)|| 9.117|4|11|94|9q34|GRP78|C|Glucose-regulated protein||138120|REa, H, Psh, A||||||2(Grp78)|| 9.118|2|9|92|9q34|GSN|P|Gelsolin||137350|A, REa, RE|40kb proximal to ABL||Amyloidosis, Finnish type, 105120 (3)|||2(Gsn)|| 9.119|10|13|94|9q34|LCN1|C|Lipocalin 1 (protein migrating faster than albumin, tear prealbumin)||151675|A, Psh||||||2(Lcn1)|| 9.120|11|22|94|9q34|LCN2, NGAL|P|Lipocalin 2 (oncogene 24p3)||600181|REa||||||2(Lcn2)|| 9.121|9|4|91|9q34|PAEP, PP14|C|Progestagen-associated endometrial protein (placental protein 14)||173310|REa, A, H||||||2(Paep)|| 9.122|10|1|95|9q34|PPP2R4, PTPA|P|Protein phosphatase 2A, regulatory subunit B' (PR 53)||600756|A|proximal to ABL||||||| 9.123|12|3|96|9q34|RING3L, ORFX|P|RING3-like gene (open reading frame X)||601541|REn|||||||| 9.124|5|27|93|9q34|RPL7A, SURF3|C|Ribosomal protein L7a (surfeit-3)||185640|REa, A|in cluster with SURF1|||||2(Surf3)|| 9.125|1|4|96|9q34|SET|P|SET gene||600960|A|fused with CAIN in acute undifferentiated leukemia||||||| 9.126|5|27|93|9q34|SURF1|C|Surfeit-1||185620|REa, A|distal to ABL, CAN|||||2(Surf)|| 9.127|5|27|93|9q34|SURF2|C|Surfeit-2||185630|REa, A||||||2(Surf2)|| 9.128|5|27|93|9q34|SURF4|C|Surfeit-4||185660|REa, A||||||2(Surf4)|| 9.129|5|27|93|9q34|SURF5|C|Surfeit-5||185641|H, A||||||2(Surf5)|| 9.130|1|7|95|9q34|TSC1|C|Tuberous sclerosis-1||191100|F, Fd|linked to ABO, ABL||Tuberous sclerosis-1 (2)||||| 9.131|5|27|93|9q34|SURF6|C|Surfeit-6||185642|H, A||||||2(Surf6)|| 9.132|5|14|95|9q34|VAV2|P|Vav 2 oncogene||600428|RE|||||||| 9.133|7|13|93|9q34|ZNF79|P|Zinc finger protein-79 (pT7)||194552|REa|||||||| 9.134|1|9|93|9q34.1|ABL1|C|Abelson murine leukemia viral (v-abl) oncogene homolog 1||189980|REa, Ch, A|fusion hybrid gene with BCR1 in CML||Leukemia, chronic myeloid (3)|||2(Abl)|| 9.135|3|1|88|9q34.1|AK1|C|Adenylate kinase-1||103000|F, S, D, Fc|proximal to Ph1 break, 9q34.1; AK1 to ORM = 17cM||Hemolytic anemia due to adenylate kinase deficiency (1)|||2(Ak1)|| 9.136|4|2|90|9q34.1|C5|C|Complement component-5||120900|REa, A|||C5 deficiency (1)|||2(Hc)|| 9.137|11|22|94|9q34.1|CRAT, CAT1|P|Carnitine acetyltransferase||600184|REa|||?Carnitine acetyltransferase deficiency (1)||||| 9.138|6|17|94|9q34.1|D9S46E, CAN, CAIN|P|CAIN gene||114350|Ch|fusion gene with DEK in AML||Leukemia, acute myeloid (2)|||2(D2H9S46E)|| 9.139|10|14|95|9q34.1|DAPK1|P|Death-associated protein kinase-1||600831|REa, A|||||||| 9.140|3|9|95|9q34.1|ENDOG|P|Endonuclease G||600440|Psh, A|||||||| 9.141|1|7|95|9q34.1|ENG, END, HHT, ORW|C|Endoglin||131195|A, H, Fd|||Hereditary hemorrhagic telangiectasia, 187300 (3)|||2(Eng)|| 9.142|6|11|94|9q34.1|EPB72|C|Erythrocyte membrane protein band 7.2 (stomatin)||185000|REa, Ch, A|proximal to ABL||?Stomatocytosis I (1)|||2(Epb7.2)|| 9.143|9|22|96|9q34.1|NCBP|P|Nuclear cap binding protein, 80kD||600469|REa, REc|in 500kb of XPA|||||4(Ncbp)|| 9.144|3|8|95|9q34.1|NPS1|C|Nail-patella syndrome||161200|F, Fd|linked to AK1, ABO; no recombination with AK1||Nail-patella syndrome (2)||||| 9.145|5|1|91|9q34.1|XPA|C|Xeroderma pigmentosum, complementation group A||278700|S, A, M|||Xeroderma pigmentosum, type A (3)|||4(Xpa)|Kaur (1989); Ishizaki (1990)| 9.146|11|13|96|9q34.1-q34.2|ATSV|P|Axonal transport of synaptic vesicles||601255|REn|||||||| 9.147|8|20|88|9q34.1-q34.3|ORM1, AGP1|C|Orosomucoid-1 (alpha-1-acid glycoprotein-1)||138600|F, S, REa, Fc, A|linked to ABO, AK1, ALAD|||||4(Orm1)|| 9.148|8|20|88|9q34.1-q34.3|ORM2|C|Orosomucoid-2||138610|RE, LD||||||4(Orm2)|| 9.149|4|18|97|9q34.2-q34.3|COL5A1|C|Collagen V, alpha-1 polypeptide||120215|REa, A, Fd|||Ehlers-Danlos syndrome, type II, 130010 (3); Ehlers-Danlos syndrome,|type I, 130000 (2)||2(Col5a1)|| 9.150|1|23|96|9q34.2-q34.3|EDS2|P|Ehlers-Danlos syndrome, type II||130010|Fd|tightly linked to COL5A1||Ehlers-Danlos syndrome, type II (2)||||| 9.151|6|11|94|9q34.2-q34.3|PTGDS|C|Prostaglandin D2 synthase (21kD, brain)||176803|A, H|distal to ABL|||||2(Ptgds)|| 9.152|8|11|91|9q34.3|CEL, BSSL|C|Carboxyl-ester lipase (bile-salt stimulated lipase)||114840|REa, A|||||||| 9.153|9|12|93|9q34.3|CELL|P|Carboxyl ester lipase-like (bile-salt stimulated lipase-like)||114841|REa, A|||||||| 9.154|1|17|95|9q34.3|GRF2, C3G|P|Guanine nucleotide-releasing factor 2 (specific for crk|proto-oncogene)|600303|A|||||||| 9.155|3|19|94|9q34.3|GRIN1, NMDAR1|C|Glutamate receptor, ionotropic, N-methyl D-aspartate 1||138249|REb, A, Fd|candidate gene for DYT1||||||| 9.156|1|27|97|9q34.3|LHX3|P|LIM/homeodomain protein LHX3||600577|H, A, REa|in mouse, close to Notch1; centromeric to ABL|||||2(Lhx3)|| 9.157|1|7|95|9q34.3|NOTCH1, TAN1|C|Notch (Drosophila) homolog 1 (translocation-associated)||190198|Ch, H, A|||Leukemia, T-cell acute lymphoblastic (2)|||2(Notch1)|| 9.158|5|19|94|9q34.3|RXRA|C|Retinoid X receptor, alpha||180245|Psh, A|distal to DBH|||||2(Rxra)|| 9.159|12|15|95|Chr.9|CCBL1|P|Cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K,|kyneurenine aminotransferase)|600547|Psh|||||||| 9.160|10|22|96|Chr.9|FCN1|P|Ficolin (collagen/fibrinogen domain-containing) 1||601252|Psh|||||||| 9.161|10|23|87|Chr.9|H142T|P|Temperature sensitivity complementation, H142||187290|S|||||||| 9.162|10|23|87|Chr.9|IGEP2|P|Immunoglobulin epsilon heavy chain pseudogene||147210|A|||||||| 9.163|12|4|90|Chr.9|IREB1|P|Iron-responsive element-binding protein-1||147581|REa||||||4(Ireb1)|| 9.164|5|14|95|Chr.9|PCSK5|P|Proprotein convertase subtilisin/kexin type 5||600488|REa|?close to LPC1 on 9q|||||19(Pcsk5)|| 9.165|8|11|91|Chr.9|VARS1|I|Valyl-tRNA synthetase||192150|S|see 6p21.3||||||| 10.1|3|6|94|10pter-p13|CALML3|P|Calmodulin-like-3||114184|REa, Psh, A|||||||| 10.2|1|23|96|10pter-p11.2|RDPA|P|Refsum disease, adult, with increased pipecolicacidemia||600964|Fd, LD|||Refsum disease, adult, with increased pipecolicacidemia (2)||||| 10.3|4|23|96|10pter-q11|PAC1|P|Prostate adenocarcinoma-1||601188|M|||Prostate adenocarcinoma (2)||||| 10.4|2|9|92|10p15.3-p15.2|PFKP|C|Phosphofructokinase, platelet type||171840|S, A, D|||||||| 10.5|10|6|92|10p15|ITIH2|C|Inter-alpha (globulin) inhibitor, H2 polypeptide||146640|A, H||||||2(Intin2)|| 10.6|9|27|95|10p15|PRKCQ|P|Protein kinase C, theta||600448|A|||||||| 10.7|9|14|95|10p15-p14|CHDR|P|Chlordecone reductase||600451|REa, A|||||||| 10.8|12|15|95|10p15-p14|DDH1|P|Dihydrodiol dehydrogenase 1 (trans-1,2-dihydrobenzene-1,2-diol|dehydrogenase, high affinitybile acid binding)|600449|Psh, A|||||||| 10.9|6|12|95|10p15-p14|DDH2|P|Dihydrodiol dehydrogenase 2 (trans-1,2-dihydrobenzene-1,2-diol|dehydrogenase)|600450|Psh, A|||||||| 10.10|10|28|93|10p15-p14|IL2RA, IL2R|C|Interleukin-2 receptor||147730|REa, A||||||2(Il2ra)|| 10.11|2|15|96|10p15-p14|IL15RA|P|Interleukin 15 receptor, alpha||601070|A||||||2(Il15ra)|| 10.12|9|2|96|10p14-p13|DGCR2, DGS2|P|DiGeorge syndrome chromosome region-2||601362|Ch|||Digeorge syndrome/velocardiofacial syndrome complex-2 (2)||||| 10.13|11|4|93|10p13|BMI1|P|Oncogene BMI-1||164831|A|||||||| 10.14|10|14|94|10p13|MRC1|P|Mannose receptor, C type 1||153618|Psa, A||||||2(Mrc1)|| 10.15|8|23|90|10p13|VIM|C|Vimentin||193060|REa||||||2(Vim)|| 10.16|12|3|95|10p12.1|MGA1|P|Megaloblastic anemia 1||261100|Fd|||Vitamin B12, selective intestinal malabsorption of (2)||||| 10.17|3|6|94|10p12.1-p11.2|CREM|P|cAMP-responsive element modulator||123812|A||||||18(Crem)|| 10.18|4|25|90|10p12-q23.2|GBM|C|Glioblastoma multiforme||137800|D|||Glioblastoma multiforme (2)||||| 10.19|3|9|95|10p11.23|GAD2|C|Glutamate decarboxylase-2 (pancreas)||138275|A||||||2(Gad2)|| 10.20|3|13|92|10p11.2|ITGB1, FNRB|C|Integrin, beta-1 (fibronectin receptor, beta polypeptide; antigen|CD29 includes MDF2, MSK12)|135630|REb, REa, F, A, S|||||||| 10.21|10|21|92|10p11.2|TCF8|P|Transcription factor-8 (represses interleukin-2 expression)||189909|REa, A|||||||| 10.22|8|20|92|10p11.2-q11.2|ZNF25, KOX19|C|Zinc finger protein-25 (KOX 19)||194528|REa, A|||||||| 10.23|5|14|95|10q|EPT|P|Epilepsy, partial||600512|Fd|||Epilepsy, partial (2)||||| 10.24|12|17|95|10q11|ERCC6, CKN2|P|Excision repair cross complementing rodent repair deficiency,|complementation group 6|133540|A|||Cockayne syndrome-2, late onset (2)||||| 10.25|8|28|92|10q11-q12|D10S170, TST1, PTC, TPC|C|DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1,|from papillary thyroid carcinoma)|188550|REa, A|||Thyroid papillary carcinoma (1)||||| 10.26|2|9|92|10q11-q21|TAC2R, NKNAR|C|Tachykinin 2 receptor (substance K receptor; neurokinin 2 receptor)||162321|REa, A|||||||| 10.27|10|23|87|10q11-q24|ADK|C|Adenosine kinase||102750|S, D, EM||||||14(Adk)|| 10.28|12|17|95|10q11.1|SDF1|P|Stromal cell-derived factor 1||600835|A|||||||| 10.29|10|23|87|10q11.1-q24|PP|C|Inorganic pyrophosphatase||179030|S, D||||||10(Pyp)|| 10.30|1|24|91|10q11.2|CHAT|C|Choline acetyltransferase||118490|REa, A|||||||| 10.31|9|29|96|10q11.2|MSMB|C|Microseminoprotein, beta||157145|REa, A|||||||| 10.32|9|19|91|10q11.2|PRKGR1B|P|Protein kinase, cGMP-dependent, regulatory, type I, beta||176894|REa, A|||||||| 10.33|10|12|90|10q11.2|RBP3|C|Retinol-binding protein-3, interstitial||180290|REa, A, Fd||||||14(Rbp3)|| 10.34|3|18|94|10q11.2|RET, MEN2A|C|RET transforming sequence; oncogene RET||164761|A, REn, Fd, Ch, D|||Multiple endocrine neoplasia IIA, 171400 (3); Medullary thyroid|carcinoma, 155240 (3); Multiple endocrine neoplasia IIB, 162300 (3);|Hirschsprung disease, 142623 (3)||| 10.35|12|17|95|10q11.2|SLC18A3, VACHT|P|Solute carrier family 18 (vesicular acetylcholine), member 3||600336|REn|||||||| 10.36|8|20|92|10q11.2|ZNF11A, KOX2|C|Zinc finger protein-11a (KOX 2)||194521|REa, A|||||||| 10.37|8|20|92|10q11.2|ZNF11B, KOX2|C|Zinc finger protein-11b (KOX 2)||194522|REa, A|||||||| 10.38|8|28|92|10q11.2|ZNF22, KOX15|C|Zinc finger protein-22 (KOX15)||194529|A, REa|||||||| 10.39|6|13|94|10q11.2-q21|MBL|C|Mannose-binding lectin, soluble (opsonic defect)||154545|REa, A, Fd|near MEN2A||{Chronic infections, due to opsonin defect} (3)|||14(Mbl1)|| 10.40|9|14|95|10q11.2-q21.1|GPR7|P|G protein-coupled receptor 7||600730|A|||||||| 10.41|3|25|96|10q11.21-q11.22|HNRPF|C|Heterogeneous nuclear ribonucleoprotein F||601037|A|||||||| 10.42|7|10|95|10q21|ANK3|P|Ankyrin 3, node of Ranvier||600465|A||||||10(Ank3)|| 10.43|3|9|95|10q21|TCF6L2, TFAM|P|Transcription factor 6-like 2 (mitochondrial transcription factor|like-1)|600438|Psh, A||||||10(Tfam)|| 10.44|9|29|96|10q21-q22|PPP3CB, CALNB|C|Protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform|(calcineurin A beta)|114106|REa|||||||| 10.45|9|29|96|10q21-q22|PPP3R1, CALNB1|P|Protein phosphatase 3 (formerly 2B), regulatory subunit B (19kD),|alpha isoform (calcineurin B, type I)|601302|REa, A|||||||| 10.46|11|12|96|10q21-q23|CMD1C, CMPD3|P|Cardiomyopathy, dilated 1C (autosomal dominant)||601493|Fd|||Cardiomyopathy, dilated 1C (2)||||| 10.47|5|14|95|10q21-q24|HTR7|P|5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)||182137|REa, Fd|||||||| 10.48|1|6|93|10q21.1|CDC2|C|Cell division cycle 2, G1 to S and G2 to M||116940|REa, A||||||10(Cdc2a)|| 10.49|10|13|94|10q21.1-q21.2|ANX7, SNX|P|Annexin VII (synexin)||186360|REa, A||||||14(Amx7)|| 10.50|5|31|90|10q21.1-q22.1|EGR2, KROX20|P|KROX-20, Drosophila, homolog (early growth response-2)||129010|D, REa, A, F||||||10(Krox20; Egr2)|| 10.51|6|13|94|10q21.3-q22.1|D10S105E, GDA|P|DNA Segment, single copy, expressed probes hGT.1,hML7|(Graves disease autoantigen)|139080|A|||||||| 10.52|4|10|90|10q21.3-q23.1|P4HA|P|Procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline|4-hydroxylase), alpha polypeptide|176710|REa, A|||||||| 10.53|10|12|90|10q22|COL13A1|C|Collagen XIII, alpha-1 polypeptide||120350|REa, A|||||||| 10.54|3|18|94|10q22|DCOH|C|Dimerization cofactor of hepatic nuclear factor 1-alpha (TCF1)||126090|REa, H, A|||Hyperphenylalaninemia due to pterin-4a-carbinolamine dehydratase|deficiency, 264070 (3)||10(Dcoh)|| 10.55|9|13|92|10q22|HK1|C|Hexokinase-1||142600|S, D, A, REa|10p11.2 conflicting assignment; ?2 loci on chr.10||Hemolytic anemia due to hexokinase deficiency (3)|||10(Hk1)|| 10.56|10|17|96|10q22|MATA1|P|Methionine adenosyltransferase I/III||250850|A|||Methionine adenosyltransferase I/III deficiency (3)||||| 10.57|8|21|92|10q22|PRF1|P|Perforin||170280|A|mistakenly assigned to chr.17|||||10(Prf1)|| 10.58|9|9|96|10q22-q23|MHAM, CD|P|Multiple hamartoma (Cowden syndrome)||158350|Fd|||Cowden disease (2)||||| 10.59|11|4|93|10q22-q23|SFTP1B|L|Pulmonary surfactant protein A-II||178642|Psh|||||||| 10.60|3|19|91|10q22-q24|ACTA2, ACTSA|P|Actin, alpha-2, smooth muscle, aorta||102620|REa, A|||||||| 10.61|6|5|89|10q22.1|PRG|C|Proteoglycan, secretory granule (platelet proteoglycan protein core)||177040|REa, A|||||||| 10.62|9|29|96|10q22.1|PSAP, SAP1|C|Prosaposin (sphingolipid activator protein-1)||176801|S, REa, A, D|||Metachromatic leukodystrophy due to deficiency of SAP-1 (3);|Gaucher disease, variant form (3)||10(Psap)|Holtschmidt (1991); Schnabel (1992)| 10.63|8|21|92|10q22.1-q23|VCL|C|Vinculin||193065|REa, Fd, REb|||||||| 10.64|3|23|93|10q22.2-q23.1|SFTP1|C|Pulmonary surfactant-associated protein, 35kD||178630|REa, A||||||14(Sftp1)|| 10.65|8|20|96|10q23|RGR|C|Retinal G protein coupled receptor||600342|A|||||||| 10.66|10|23|87|10q23-q24|DNTT, TDT|C|Terminal deoxynucleotidyltransferase||187410|REa, A, Ch||||||19(Tdt)|| 10.67|5|31|94|10q23-q24|IFI56, G10P1, IFNAI1|C|Interferon, alpha-inducible protein (MW 56kD)||147690|REa, A|10q25-q26 = conflicting site||||||| 10.68|5|22|92|10q23-q24|G10P2, IFI54|C|Interferon, alpha-inducible protein (MW 54kD)||147040|A, REa|||||||| 10.69|11|4|93|10q23-q24|ZNF32, KOX30|P|Zinc finger protein-32 (KOX30)||194539|A||||||8(Zfp4)|| 10.70|2|9|92|10q23-q25|IDE|C|Insulin-degrading enzyme||146680|REa, A||||||19(Ide)|| 10.71|12|3|95|10q23.1-q23.3|HPS|C|Hermansky-Pudlak syndrome||203300|LD, Fd|||Hermansky-Pudlak syndrome (2)|||19(ep, ru)|| 10.72|10|4|93|10q23.3|GLUD1|C|Glutamate dehydrogenase-1||138130|REa, A||||||14(Glud)|| 10.73|3|31|97|10q23.3|PTEN, MMAC1|P|Phosphatase and tensin homolog (mutated in multiple advanced cancers|1)|601728|REc|||||||| 10.74|7|10|95|10q23.3|SFTP4|C|Surfactant associated protein-4||178635|Psh|||||||| 10.75|8|3|95|10q23.3-q24.1|SCA8, IOSCA|P|Spinocerebellar ataxia 8||271245|Fd|||Spinocerebellar ataxia, infantile, with sensory neuropathy (2)||||| 10.76|4|10|97|10q23.3-q24.3|PEO, PEO1|P|Progressive external ophthalmoplegia, type 1||157640|Fd|||PEO with mitochondrial DNA deletions, type 1 (2)||||| 10.77|2|26|93|10q24|HOX11, TCL3|C|Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to|Drosophila Notch)|186770|Ch, RE, H|t(7;10) or t(10;4)||Leukemia, T-cell acute lymphocytic (2)||||| 10.78|5|27|93|10q24|NFKB2, LYT10|C|Nuclear factor of kappa light chain gene enhancer in B-cells 2|(p49/p100); oncogene Lyt-10|164012|REa, A, Ch|||||||| 10.79|12|17|95|10q24|PDE6C, PDEA2|P|Phosphodiesterase 6C, cGMP-specific, cone, alpha prime||600827|A|||||||| 10.80|5|27|93|10q24|PLAU, URK|C|Plasminogen activator, urokinase||191840|REa, A, Psh|proximal to HOX11|||||14(Plau)|| 10.81|10|1|95|10q24|RBP4|C|Retinol-binding protein-4, interstitial||180250|REa, A|just centromeric of CYP2C cluster||?Retinol binding protein, deficiency of (1)|||19(Rbp4)|| 10.82|8|29|96|10q24|WNT8B|P|Wingless-type MMTV integration site 8B, human homolog||601396|Psh, A|||||||| 10.83|4|10|90|10q24-q25|LIPA|C|Lipase A, lysosomal acid, cholesterol esterase||278000|S, H|?close to GOT||Wolman disease (3); Cholesteryl ester storage disease (3)|||19(Lip1)|| 10.84|1|23|96|10q24-q25|SHFM3|C|Split hand/foot malformation (ectrodactyly) type 3||600095|Fd|||Split hand/foot malformation, type 3 (2)|||19(Dac)|| 10.85|3|7|92|10q24-q26|ADRA2A, ADRA2R|C|Adrenergic, alpha-2A-, receptor||104210|REa, A, Fd, RE||||||19(Adra2)|| 10.86|9|8|90|10q24-q26|ADRB1, ADRB1R|C|Adrenergic, beta-1-, receptor||109630|REa, Fd, A|no recombination with ADRA2R|||||19(Adrb1)|| 10.87|12|17|95|10q24-qter|GPRK5, GRK5|P|G protein-coupled receptor kinase 5||600870|REa|||||||| 10.88|7|11|95|10q24.1|APT1, FAS|C|Apoptosis (APO-1) antigen 1||134637|A|||{Autoimmune lymphoproliferative syndrome} (3)|||19(Fas1)|| 10.89|11|2|92|10q24.1|KNSL1|P|Kinesin-like-1||148760|A||||||18(Kns)|| 10.90|5|18|90|10q24.1-q24.3|CYP2C, CYP2C19|C|Cytochrome P450, subfamily IIC; mephenytoin 4'-hydroxylase||124020|REa, A|4 genes in order: cen-C18-C19-C9-C8-tel||Mephenytoin poor metabolizer (3)|||19(P4502c)|| 10.91|10|16|89|10q24.1-q25.1|GOT1|C|Glutamic-oxaloacetic transaminase-1, soluble (EC 2.6.1.1)||138180|S, D, H, A|10q26.1 = conflicting localization|||||19(Got1)|| 10.92|10|22|96|10q24.3|COL17A1, BPAG2|C|Collagen, type XVII, alpha 1 polypeptide||113811|A, H|||Epidermolysis bullosa, generalized atrophic benign, 226650 (3)|||19(Bpag2)|| 10.93|9|12|93|10q24.3|CYP17, P450C17|C|Cytochrome P450, subfamily XVII; steroid 17-alpha-hydroxylase||202110|REa, H, A|at least 2 genes; distal to GOT1||Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase|deficiency (3)||19(Cyp17)|| 10.94|10|21|96|10q24.3|PYCS, GSAS|C|Pyrroline-5-carboxlate synthetase||138250|S, A|GOT1 and GSAS in same pathway||?P5CS deficiency (1)||||| 10.95|3|6|94|10q24.3-qter|CYP2E|C|Cytochrome P450, subfamily IIE (ethanol-inducible)||124040|REa||||||7(Cyp2e)|| 10.96|6|29|95|10q25|MXI1|C|MAX-interacting protein 1||600020|A, D|||Prostate cancer, 176807 (3)|||19(Mxi1)|| 10.97|5|14|95|10q25|PAX2|C|Paired box homeotic gene-2||167409|REa, A|||Optic nerve coloboma with renal anomalies, 120330 (3)|||19(Pax2)|| 10.98|9|29|96|10q25|SLC18A2, VAT2, SVMT|C|Solute carrier family 18 (vesicular monoamine), member 2||193001|REa, A||||||19(Slc18a2)|| 10.99|1|9|96|10q25-q26|ACADSB|P|Acyl-Coenzyme A dehydrogenase, short/branched chain||600301|REa, A|||||||| 10.100|1|1|96|10q25-q26|FGF8|C|Fibroblast growth factor-8||600483|H, REa||||||19(Fgf8)|| 10.101|10|15|91|10q25-qter|MKI67|P|Proliferation-related Ki-67 antigen||176741|S, REa, A|||||||| 10.102|3|20|97|10q25.2-q26.3|HMX2|P|Homeo box (H6 family) 2||600647|REa|||||||| 10.103|6|21|91|10q25.2-q26.3|UROS|P|Uroporphyrinogen III synthase||263700|REa, Psh|||Porphyria, congenital erythropoietic (3)|||7(Uros)|| 10.104|6|5|89|10q25.3|PGAM1|P|Phosphoglycerate mutase A, nonmuscle form||172250|D, H||||||19(Pgam1)|| 10.105|11|5|95|10q25.3-q26|GPR10|P|G protein-coupled receptor 10||600895|A|||||||| 10.106|3|23|93|10q25.3-q26.3|ADORA2L|P|Adenosine A2 receptor-like||102777|A|||||||| 10.107|2|24|97|10q26|FGFR2, BEK, CFD1, JWS|C|Fibroblast growth factor receptor-2 (bacteria-expressed kinase)||176943|A, Psh, Fd|||Crouzon craniofacial dysostosis, 123500 (3); Jackson-Weiss syndrome,|123150 (3); Apert syndrome, 101200 (3); Pfeiffer syndrome, 101600|(3); Beare-Stevenson cutis gyrata syndrome, 123790 (3)|7(Fgfr2)|| 10.108|9|12|93|10q26|MGMT|C|Methylguanine-DNA methyltransferase||156569|REa, A|||||||| 10.109|2|26|91|10q26|OAT|C|Ornithine aminotransferase||258870|S, REa, A, Fd|pseudogene at Xp11.2||Gyrate atrophy of choroid and retina with ornithinemia, B6|responsive or unresponsive (3)||7(Oat)|| 10.110|9|12|93|10q26|OATL3|P|Ornithine aminotransferase-like 3||165635|REa, A|partial processed pseudogene||||||| 10.111|1|1|96|10q26|PTPRE|C|Protein tyrosine phosphatase, receptor-type, epsilon||600926|A||||||7(Ptpre)|| 10.112|1|9|96|10q26.1|EMX2|P|Empty spiracles (Drosophila) homolog 2||600035|REa, A|||Schizencephaly (3)||||| 10.113|10|4|91|10q26.1|PNLIP|P|Pancreatic lipase||246600|REa, A|||Pancreatic lipase deficiency (1)||||| 10.114|9|2|96|10q26.13-q26.3|DOCK180|P|Downstream of CRK, 180kDa||601403|A|||||||| 10.115|2|12|96|10q26.3|INPP5A|P|Inositol trisphosphate-5-phosphatase, 40kD||600106|A|||||||| 10.116|7|5|92|Chr.10|ALOX5|P|Arachidonate 5-lipoxygenase||152390|Psh|||||||| 10.117|3|9|95|Chr.10|ATP5, ATPM, ATP5A|P|ATP synthase, H+ transporting (ATPase, mitochondrial)||164360|S, REa|chr.9, 18 by others||||||| 10.118|10|23|87|Chr.10|FUSE|P|Polykaryocytosis inducer||174750|S|||||||| 10.119|10|23|87|Chr.10|HEP10|P|Hepatic protein 10||142390|REa|||||||| 10.120|10|23|87|Chr.10|M130|P|External membrane protein-130||133710|S|||||||| 10.121|10|23|87|Chr.10|PROA|P|Proline(-) auxotroph, complementation of||176770|S|||||||| 10.122|3|1|94|Chr.10|RSU1|P|Ras suppressor protein 1||179555|REa|||||||| 10.123|1|9|95|Chr.10|SLO|P|slowpoke (Drosophila) homolog (potassium channel, calcium-activated)||600150|Psh|||||||| 10.124|11|4|93|Chr.10|TPL2|L|Tumor progression locus-2||191195|H||||||18(Tpl2)|| 11.1|5|15|89|11pter-p15.4|BWS, WBS|C|Beckwith-Wiedemann syndrome||130650|Ch, Fd|partial trisomy||Beckwith-Wiedemann syndrome (2)||||| 11.2|12|16|93|11pter-p13|AMPD3|P|Adenosine monophosphate deaminase 3 (isoform E)||102772|REa|||[AMP deaminase deficiency, erythrocytic] (3)||||| 11.3|10|12|90|11pter-p13|CD44, MDU2, MDU3, MIC4|P|CD44 antigen (homing function)||107269|S||||||2(Ly24)|| 11.4|7|13|92|11pter-p13|RPS17|P|Ribosomal protein S17||180472|Psh|||||||| 11.5|3|6|94|11pter-p11.2|TP250|P|T-cell activation antigen p250||186710|S|||||||| 11.6|11|4|93|11p15.5|CARS|P|Cysteinyl-tRNA synthetase||123859|REa, A|||||||| 11.7|10|7|96|11p15.5|CDKN1C, KIP2|C|Cyclin-dependent kinase inhibitor 1C (p57, Kip2)||600856|A, Ch, Fd|||Beckwith-Wiedemann syndrome, 130650 (3)|||7(Kip2)|| 11.8|6|14|94|11p15.5|CTSD, CPSD|C|Cathepsin D (lysosomal aspartyl protease)||116840|REa, A|||||||| 11.9|10|23|92|11p15.5|D11S813E, ASM1, H19|C|DNA segment, single copy, expressed, probe H19 (adult skeletal|muscle gene)|103280|REa, A, RE|same 200kb fragment as IGF2|||||7(H19)|| 11.10|1|9|96|11p15.5|DRD4|C|Dopamine receptor D4||126452|Fd|proximal to HRAS||Autonomic nervous system dysfunction (3); [Novelty seeking|personality] (1)|||| 11.11|10|20|92|11p15.5|HRC1|P|HRAS1-related cluster-1||143023|REn|29kb 5' to HRAS1; divergently transcribed||||||| 11.12|3|26|95|11p15.5|IDDM2|C|Insulin-dependent diabetes mellitus-2||125852|Fd|||Insulin-dependent diabetes mellitus-2 (2)||||| 11.13|1|18|96|11p15.5|L23MRP, MRPL23|P|L23 mitochondrial-related protein||600789|REn|||||||| 11.14|8|28|92|11p15.5|MER2|C|Red blood cell antigen MER2||179620|S, REa|||||||| 11.15|8|28|92|11p15.5|MUC2|C|Mucin 2, intestinal/tracheal||158370|REa|||||||| 11.16|6|13|95|11p15.5|MUC5AC, MUC5|C|Mucin 5, subtypes A and C, tracheobronchial/gastric||158373|REa, A|||||||| 11.17|10|23|87|11p15.5|NAGC@, HBBC@|C|NON-ALPHA GLOBIN CLUSTER|||HS, REa, A|?11p12.08-p12.05||||||| 11.18|10|23|87|11p15.5|HBB|C|Hemoglobin beta||141900|LD, AAS, F, Fd|||Sickle cell anemia (3); Thalassemias, beta- (3);|Methemoglobinemias, beta- (3); Erythremias, beta- (3);|Heinz body anemias, beta- (3); HPFH, deletion type (3)|7(Hbb)|| 11.19|10|23|87|11p15.5|HBD|C|Hemoglobin delta||142000|AAS|||||||| 11.20|10|23|87|11p15.5|HBGR|C|Hemoglobin, gamma, regulator of||142270|RE|||?Hereditary persistence of fetal hemoglobin (3)||||| 11.21|1|9|93|11p15.5|HBG1|C|Hemoglobin, gamma A||142200|RE|||HPFH, nondeletion type A (3)||||| 11.22|1|9|93|11p15.5|HBG2|C|Hemoglobin, gamma G||142250|RE|||HPFH, nondeletion type G (3)||||| 11.23|3|1|89|11p15.5|HBE1|C|Hemoglobin epsilon||142100|RE|||||||| 11.24|6|14|94|11p15.5|HRAS|C|Harvey rat sarcoma viral (v-Ha-ras) oncogene homolog||190020|S|pseudogene HRASP on X|||||7(Hras1)|| 11.25|3|18|95|11p15.5|IGF2|C|Insulin-like growth factor-2, or somatomedin A||147470|REa, A, RE|separate gene for variant, 147410|||||7(Igf2)|| 11.26|2|28|89|11p15.5|INS|C|Insulin||176730|HS, A, REb, Fd, D|5'--INS-12.6kb-IGF2--3'; cen-HBBC-10cM-INS-2cM-HRAS1-3cM-TH||Diabetes mellitus, rare form (1); MODY, one form (3);|Hyperproinsulinemia, familial (3)||6(Ins1); 7(Ins2)|| 11.27|12|19|90|11p15.5|KRN1L|P|Keratin, hair cuticle, ultrahigh-sulfur, 1-like||148022|A|||||||| 11.28|2|19|97|11p15.5|LQT1, KVLQT1|C|Long (electrocardiographic) QT syndrome-1; Ward-Romano syndrome||192500|Fd|no recombinants with HRAS1, candidate gene||Long QT syndrome-1 (3); Jervell and Lange-Neilsen syndrome, 220400|(3)|||| 11.29|3|23|93|11p15.5|LSP1|P|Lymphocyte-specific protein pp52||153432|A|||||||| 11.30|3|22|93|11p15.5|MTACR1, WT2|C|Multiple tumor associated chromosome region-1||194071|D|||Wilms tumor, type 2 (2); Adrenocortical carcinoma, hereditary, 202300|(2)|||| 11.31|2|3|97|11p15|NAP2L, NAP2|P|Nucleosome assembly protein 2-like||601651|REc|||||||| 11.32|6|21|91|11p15.5|RMS1|P|Rhabdomyosarcoma, embryonal||268210|D|||Rhabdomyosarcoma (2)||||| 11.33|10|12|90|11p15.5|RNH|C|Placental ribonuclease inhibitor||173320|REa, A|distal to IGHF2||||||| 11.34|7|13|93|11p15.5|RRM1|C|Ribonucleotide reductase, M1 polypeptide||180410|S, REa, A||||||7(Rrm1)|| 11.35|12|11|95|11p15.5|SSA1, RO52|P|Sjogren syndrome antigen A1 (52kD, ribonucleoprotein autoantigen|SS-A/Ro)|109092|A|||||||| 11.36|3|18|95|11p15.5|TH, TYH|C|Tyrosine hydroxylase||191290|REa, A, Fd, RE|distal to HRAS1||Segawa syndrome, recessive (3)|||7(Th)|| 11.37|7|13|93|11p15.5-p15.4|ARHG|P|ras homolog gene family, member G (rho G)||179505|A|||||||| 11.38|3|6|94|11p15.5-p15.4|CCKBR, GASR|C|Cholecystokinin B receptor||118445|REa, A||||||7(Cckbr)|| 11.39|12|17|87|11p15.5-p15.4|HPX|C|Hemopexin||142290|REa, A|||||||| 11.40|2|20|97|11p15.5-p15.4|MUC6|P|Mucin 6, gastric||158374|A|order: tel-HRAS-MUC6-MUC2-MUC5AC-MUC5B-IGF2-cen||||||| 11.41|10|16|89|11p15.5-p15.3|LDHC, LDH3|C|Lactate dehydrogenase C||150150|REa, A, REb|closely linked to LDHB in other species; in man syntenic with|LDHA; ?close to LDHA||||7(Ldh3)|| 11.42|12|4|95|11p15.5-p15.2|TAF2H, TAF2A|P|TATA box binding protein (TBP)-associated factor, RNA polymerase II,|H, 30kD|600475|A|||||||| 11.43|3|29|90|11p15.4|LDHA, LDH1|C|Lactate dehydrogenase A||150000|S, D, REb, C, A|||Exertional myoglobinuria due to deficiency of LDH-A (3)|||7(Ldh1)|| 11.44|4|30|91|11p15.4|MYOD1, MYF3|C|Myogenic factor-3||159970|REa, A|proximal to CALCA, HBB, BWS, PTH; ?11p14.3|||||7(Myod1)|| 11.45|10|12|90|11p15.4-p15.1|SMPD1, NPD|P|Sphingomyelin phosphodiesterase-1, acid lysosomal||257200|REa, A|||Niemann-Pick disease, type A (3); Niemann-Pick disease, type B (3)|||7(Smpd1)|| 11.46|10|14|94|11p15.3-p15.1|PTH|C|Parathyroid hormone||168450|REa, REb, A, Fd|~9cM distal to CALC1; distal to MYOD||Hypoparathyroidism, autosomal dominant(3); Hypoparathyroidism,|autosomal recessive (3)||7(Pth)|| 11.47|3|23|93|11p15.3-p15.1|WEE1|P|wee1+ (S. pombe) human homolog||193525|A|||||||| 11.48|8|21|91|11p15.3-p14|TPH|C|Tryptophan hydroxylase (tryptophan-5-monooxygenase)||191060|REa, A||||||7(Tph)|| 11.49|3|23|93|11p15.2-p15.1|CALCA, CALC1|C|Calcitonin/calcitonin-related polypeptide, alpha||114130|REa, A, REb, D, Fd, REn|same 220kb fragment as CALCB|||||7(Calc)|| 11.50|3|23|93|11p15.2-p15.1|CALCB, CALC2|C|Calcitonin-related polypeptide, beta||114160|A, REa, REb, D|||||||| 11.51|2|18|96|11p15.2-p15.1|PTPN5, STEP|P|Protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)||176879|Psh, A||||||7(Ptpn5)|| 11.52|3|31|97|11p15.2-p15.1|TSG101|P|Tumor susceptibility gene 101||601387|R, A|||Breast cancer (3)||||| 11.53|11|20|95|11p15.1|BIR|P|Potassium channel, inward rectifying, BIR subunit (beta-cell|inward rectifier)|600937|A, REn|4.5kb 3' of SUR||||||| 11.54|2|18|96|11p15.1|LMO4, CLP|P|LIM domain only 4 (cardiac LIM protein)||600824|A|||||||| 11.55|3|18|94|11p15.1|SAA1|C|Serum amyloid A1||104750|REa, H, A, Psh||||||7(Saa1)|| 11.56|3|18|94|11p15.1|SAA2|C|Serum amyloid A2||104751|REn, A, Fd, Psh|pseudogene = SAA3||||||| 11.57|3|18|94|11p15.1|SAA4|C|Serum amyloid A4, constitutive||104752|REn, A, Psh||||||7(Saa4)|| 11.58|11|13|96|11p15.1|SUR, PHHI, SUR1|C|Sulfonylurea receptor||600509|A, REn|||Persistent hyperinsulinemic hypoglycemia of infancy, 256450 (3)||||| 11.59|3|18|95|11p15.1|USH1C|C|Usher syndrome-1C (autosomal recessive, severe)||276904|Fd|Acadian and Samaritan variety||Usher syndrome, type 1C (2)||||| 11.60|3|18|95|11p15.1-p14|GTF2H1|C|General transcription factor IIH, polypeptide 1 (62kD subunit)||189972|A, REn|within 50kb of LDHA||||||| 11.61|3|18|95|11p15.1-p14|PHHI|C|Persistent hyperinsulinemic hypoglycemia of infancy (nesidioblastosis)||256450|Fd, LD|||Persistent hyperinsulinemic hypoglycemia of infancy (2)||||| 11.62|8|3|95|11p15|AA|P|Atrophia areata||108985|Fd|||Atrophia areata (2)||||| 11.63|2|24|97|11p15|ART1|P|ADP-ribosyltransferase 1||601625|REa||||||7(Art1)|| 11.64|3|23|93|11p15|KCNC1|C|Potassium voltage-gated channel, Shaw-related subfamily, member 1||176258|A, REn||||||7(Kcnc1)|| 11.65|4|17|97|11p15|LMO1, RBTN1, RHOM1|C|LIM domain only 1 (rhombotin 1)||186921|Ch, D|||Leukemia, T-cell acute lymphoblastic (2)|||7(Ttg1)|| 11.66|9|12|95|11p15|MUC5B|P|Mucin 5, subtype B, tracheobronchial||600770|REa, A|||||||| 11.67|1|30|96|11p15|NUP98|C|Nucleoporin, 98kD||601021|Ch, REc, Psh|fused with HOXA9 in myeloid leukemia||||||| 11.68|10|23|92|11p15|ST5, HTS1|P|Suppression of tumorigenicity-5||140750|S, REa, A|||||||| 11.69|4|10|90|11p14.3-p12|ST2|P|Suppression of tumorigenicity-2||185440|Ch|||||||| 11.70|2|9|92|11p14.2-p14.1|HSPCAL3|P|Heat shock 90kD protein, alpha-like 3||140575|REa, A|?functional||||||| 11.71|1|25|93|11p14.1|KCNA8|P|Potassium voltage-gated channel, shaker-related subfamily, member 8|(rapidly inactivating)|176269|REa, D, REn|||||||| 11.72|11|28|88|11p14-p13|HVBS1|C|Hepatitis B virus integration site-1||114550|REa, A, Ch|||Hepatocellular carcinoma (1)||||| 11.73|6|21|91|11p13|BDNF|C|Brain-derived neurotrophic factor||113505|A, REa, D|homeology with NRF3 on 12p; at p14 boundary|||||1(Bdnf)|| 11.74|4|10|90|11p13|CAT|C|Catalase||115500|S, D, Fd|cen-CAT-WT1-AN2-pter||Acatalasemia (3)|||2(Cas1)|| 11.75|7|13|93|11p13|CD59|C|CD59 antigen (p18-20)||107271|REa, A, D|in mouse Ly-6 = multigene complex||CD59 deficiency (3)|||15(Ly6)|Yamashina (1990)| 11.76|10|23|87|11p13|FSHB|C|Follicle-stimulating hormone, beta polypeptide||136530|D, REa|distal to AN2||?Male infertility, familial (1)|||2(Fshb)|| 11.77|12|11|95|11p13|LMO2, RBTNL1, RHOM2, TTG2|P|LIM domain only 2 (rhombotin-like 1)||180385|REa, REc|3rd rhombotin gene not on 11||Leukemia, acute, T-cell (2)||||| 11.78|4|9|96|11p13|M11S1|P|Membrane component, chromosome 11, surface marker 1||601178|REc|||||||| 11.79|4|30|91|11p13|MIC11|C|Antigen identified by monoclonal antibody 16.3A5||143065|REa|||||||| 11.80|7|8|96|11p13|PAX6, AN2|C|Paired box homeotic gene-6||106210|Ch, Fd|mapping of aniridia to 2p (AN1) disproved; AN2 1Mb telomeric to|WT1|Aniridia (3); Peters anomaly (3); Cataract, congenital, with|late-onset corneal dystrophy (3); Foveal hypoplasia, isolated, 136520|(3)|2(Sey)|Ton (1991); Lyons(1992)| 11.81|11|8|96|11p13|RAG1|C|Recombination activating gene-1||179615|REa, D|assignment to 14 in error||Severe combined immunodeficiency, B cell-negative, 601457 (3)|||2(Rag1)|| 11.82|1|25|93|11p13|RAG2|C|Recombination activating gene-2||179616|REa, D|assignment to 14 in error||Severe combined immunodeficiency, B cell-negative, 601457 (3)|||2(Rag2)|| 11.83|9|15|88|11p13|TCL2|P|T-cell leukemia/lymphoma-2||151390|Ch, RE, A, REa|involved in t(11;14)(p15;q11.2); between HRAS1 and INS/IGF2||Leukemia, acute T-cell (2)||||| 11.84|9|2|96|11p13|WT1|C|Wilms tumor-1||194070|Ch|clumped: pter-FSHB-AN2-WT1-CAT||Wilms tumor, type 1 (3); Denys-Drash syndrome (3)|||2(Wt1)|Jadresic (1991); Pelletier (1991)| 11.85|2|24|97|11p13-p12|PSMC3, TBP1|P|Proteasome (prosome, macropain) 26S subunit, ATPase, 3||186852|Psh, A|||||||| 11.86|1|29|96|11p13-p12|SLC1A2, EAAT2|C|Solute carrier family 1 (glial high affinity glutamate transporter),|member 2|600300|A, REa||||||2(Eaat2)|| 11.87|8|31|92|11p13-p11.2|PCM|P|Prostatic cancer, metastasis of||176807|S|not WT1||||||| 11.88|11|17|94|11p12|CD82, SAR2|P|CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal|and antibody IA4)|151540|REa|activation antigen of T-cells||||||| 11.89|6|8|89|11p12-p11.22|SPI1|P|Oncogene SPI1||165170|REa, A|||||||| 11.90|3|15|92|11p12-p11.2|CHRM4|C|Cholinergic receptor, muscarinic, 4||118495|A, REa, Fd|||||||| 11.91|11|7|95|11p12-p11.12|PFM, FPP|P|Foramina parietalia permagna (Catlin marks)||168500|Ch, D|||Parietal foramina (2)||||| 11.92|10|8|88|11p12-p11|ACP2|C|Acid phosphatase 2, lysosomal||171650|S, REa|||?Lysosomal acid phosphatase deficiency (1)|||2(Acp2)|| 11.93|12|13|96|11p12-p11|DDB2|P|Damage-specific DNA binding protein 2 (48kD)||600811|A|||Xeroderma pigmentosum, complementation group E, DDB-negative|subtype, 278740 (3)|||| 11.94|10|22|96|11p12-p11|EXT2|C|Exostoses (multiple) 2||133701|Fd, D|others map to 19p||Exostoses, multiple, type 2 (3)||||| 11.95|10|2|91|11p12-q13|ACRV1|P|Acrosomal vesicle protein-1||102525|REa|||||||| 11.96|9|14|94|11p11.2|MDK, NEGF2|C|Midkine (neurite growth-promoting factor 2)||162096|REa, A||||||2(Mdk)|| 11.97|12|14|95|11p11.2|MYBPC, CMH4|C|Myosin-binding protein C, cardiac||600958|A, Fd|||Cardiomyopathy, familial hypertrophic, 4, 115197 (3)||||| 11.98|8|22|95|11p11.2|ST6, KAI1, CD82|P|Kangai 1 (suppression of tumorigenicity 6, prostate)||600623|M|||||||| 11.99|9|19|88|11p11.2|TYRL|P|Tyrosinase-like||191270|REa, A|||||||| 11.100|1|21|97|11p11.2-p11.1|RAPSN|P|Receptor-associated protein of the synapse, 43kD||601592|REa|||||||| 11.101|1|7|95|11p11-q11|SCA5|P|Spinocerebellar ataxia 5||600224|Fd|||Spinocerebellar ataxia, type 5 (2)||||| 11.102|10|12|90|11p11-q12|F2|C|Coagulation factor II (thrombin)||176930|REa, A|||Hypoprothrombinemia (3); Dysprothrombinemia (3)|||2(Cf2)|| 11.103|1|25|93|11p|INLU|P|Lutheran inhibitor, dominant (monoclonal antibody A3D8)||111150|S|||||||| 11.104|2|15|96|11p|SYT5|L|Synaptotagmin 5||600782|H||||||7(Syt5)|| 11.105|1|6|93|11p|TAPA1|P|Target of antiproliferative antibody-1||186845|REa||||||7(Tapa1)|| 11.106|2|11|93|11cen-q13|ADRBK1|C|Adrenergic, beta, receptor kinase-1||109635|REa||||||19(Adrbk1)|| 11.107|9|12|95|11q|CPT1|P|Carnitine palmitoyltransferase I||600528|Psh, A|not 11q22-q23||CPT deficiency, hepatic, type I, 255120 (1)||||| 11.108|6|22|90|11q|JBS|L|Jacobsen syndrome||147791|Ch|||?Jacobsen syndrome (2)||||| 11.109|9|25|92|11q|MDU1, NACAE|C|Antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and|T43|158070|S, H|prob. 11q13|||||19(Mdu1)|| 11.110|2|12|96|11q11|CTNND|P|Catenin (cadherin-associated protein), delta||601045|A||||||2(Catns)|| 11.111|9|12|91|11q11-q12|TCN1, TC1|P|Transcobalamin I||189905|A|||||||| 11.112|6|4|90|11q11-q13.1|C1NH|C|Complement component-1 inhibitor||106100|REa, A|||Angioedema, hereditary (3)||||| 11.113|2|10|97|11q11-qter|UGB, CC10, CCSP|P|Uteroglobin||192020|REa, Fd|||||||| 11.114|10|16|95|11q12|AHNAK|P|AHNAK nucleoprotein (desmoyokin)||103390|REa, A|||||||| 11.115|3|18|95|11q12|FEN1|P|Flap structure-specific endonuclease 1||600393|A, R||||||19(Fen1)|| 11.116|5|14|95|11q12|AGTRL1, APJ|P|Angiotensin receptor-like 1||600052|Psh, A|||||||| 11.117|10|14|95|11q12-q13|DDB1|P|Damage-specific DNA binding protein 1 (127kD)||600045|A|||Xeroderma pigmentosum, type E, subtype 2 (1)||||| 11.118|5|14|95|11q12-q13|EMK1|P|ELKL motif kinase||600526|A, REa, REn||||||19(Emk1)|| 11.119|11|4|93|11q12-q13|IGER, APY|C|IgE responsiveness (atopic)||147050|Fd|?mutation in FCER1B||Atopy (2)||||| 11.120|8|11|91|11q12-q13|CHRM1|P|Cholinergic receptor, muscarinic, 1||118510|REa, A|||||||| 11.121|10|4|91|11q12-q13|FTH1, FTHL6|C|Ferritin, heavy polypeptide 1||134770|REa, H, REn, R||||||19(Fth)|| 11.122|11|13|96|11q12-q13|OPPG|P|Osteoporosis pseudoglioma syndrome||259770|Fd|||Osteoporosis pseudoglioma syndrome (2)||||| 11.123|11|15|95|11q12-q13|RELA, NFKB3|C|v-rel avian reticuloendotheliosis viral oncogene homolog A (nuclear|factor of kappa light polypeptide gene enhancer in B-cells 3 (p65))|164014|A, REa|||||||| 11.124|10|4|96|11q12-q13|OPPG|P|Osteoporosis-pseudoglioma syndrome||259770|Fd|||Osteoporosis-pseudoglioma syndrome (2)||||| 11.125|10|4|91|11q12-q13|OSBP|C|Oxysterol-binding protein||167040|REa, R||||||19(Osbp)|| 11.126|10|23|87|11q12.1-q13.5|FNL2|P|Fibronectin-like-2||135610|S, A|||||||| 11.127|7|13|93|11q12.2|CNTF|C|Ciliary neurotrophic factor||118945|REa, A||||||19(Cntf)|| 11.128|11|13|96|11q12.3-q21|DFNA11|P|Deafness, autosomal dominant 11||601317|Fd|||Deafness, autosomal dominant 11 (2)||||| 11.129|12|11|95|11q13|ARRB1|C|Arrestin, beta 1||107940|A|||||||| 11.130|10|14|94|11q13|BBS1|C|Bardet-Biedl syndrome 1||209901|Fd|||Bardet-Biedl syndrome 1 (2)||||| 11.131|8|31|92|11q13|CCND1, PRAD1|C|Cyclin D1||168461|REn, R, REa, A|?same as BCL1; pseudogene on 11q13||Parathyroid adenomatosis 1 (2); Centrocytic lymphoma (2)||||| 11.132|6|8|89|11q13|CD5, LEU1|C|CD5 antigen (p56-62)||153340|REa, A||||||19(Ly1)|| 11.133|7|13|93|11q13|CD20|C|CD20 antigen||112210|REa, A, R||||||19(Ly44)|| 11.134|1|8|97|11q13|CFL1|C|Cofilin 1 (non-muscle)||601442|REn, A, Psh, R|||||||| 11.135|7|13|93|11q13|COX8|C|Cytochrome c oxidase, subunit VIII||123870|A, R, REn|||||||| 11.136|12|11|95|11q13|EMS1|P|ems1 sequence (mammary tumor and squamous cell carcinoma-associated|(p80/85 src substrate))|164765|RE|amplified in breast cancer and squamous cell cancer||||||| 11.137|9|12|93|11q13|FAU|C|Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV)||134690|A, REa, REc, R||||||19(Fau)|| 11.138|3|18|94|11q13|FCER1B|C|Fc fragment of IgE, high affinity I, receptor for, beta polypeptide||147138|Fd, REn|?atopy gene||||||| 11.139|3|8|92|11q13|FGF4, HSTF1|C|Fibroblast growth factor-4 (heparin secretory transforming protein-1;|Kaposi sarcoma oncogene)|164980|A, REa, RE|coamplified with FGF3 in melanoma|||||7(Hstf1)|| 11.140|3|8|92|11q13|FGF3, INT2|C|Fibroblast growth factor-3 (oncogene INT2)||164950|REa, A, RE|35kb 5' to HST1|||||7(Int2)|| 11.141|12|28|93|11q13|FOSL1|P|FOS-like antigen-1||136515|REl|||||||| 11.142|12|6|91|11q13|GSTP1, GST3|C|Glutathione S-transferase pi||138370|S, A, REa, R, Fd|formerly called GST1|||||19(Gst3)|| 11.143|3|26|95|11q13|IDDM4|P|Insulin-dependent diabetes mellitus 4||600319|Fd|||Diabetes mellitus, insulin-dependent, 4 (2)||||| 11.144|4|18|97|11q13|MEN1|C|Multiple endocrine neoplasia, type I (menin)||131100|Fd, D|linked distal to PYGM||Multiple endocrine neoplasia I (3); Prolactinoma,|hyperparathyroidism, carcinoid syndrome (2)|||| 11.145|3|1|94|11q13|NDUFV1, UQOR1|P|NADH dehydrogenase (ubiquinone) flavoprotein 1 (51kD)||161015|REa, A|||?Mitochondrial complex I deficiency, 252010 (1)||||| 11.146|9|12|93|11q13|NUMA1|P|Nuclear mitotic apparatus protein-1||164009|A|||||||| 11.147|10|23|87|11q13|PGA3|C|Pepsinogen A3||169710|REa, RE, A|||||||| 11.148|10|23|87|11q13|PGA4|C|Pepsinogen A4||169720|REa, RE, A|||||||| 11.149|10|23|87|11q13|PGA5|C|Pepsinogen A5||169730|REa, A|pter-5'HRAS--5'INS--cen||||||| 11.150|1|7|95|11q13|PLCB3|C|Phospholipase C, beta 3 (phosphatidylinositol-specific)||600230|REn, Ch|within 900kb of MEN1|||||19(Plcb3)|| 11.151|10|4|91|11q13|PPP1A|C|Protein phosphatase-1, alpha polypeptide||176875|REa, A, R||||||7(Ppp1a)|| 11.152|6|8|89|11q13|PYGM|C|Phosphorylase, glycogen, muscle||232600|REb, Fd, REn|||McArdle disease (3)|||19(Pygm)|| 11.153|4|11|97|11q13|HND|L|Hartnup disorder||234500|H|in mouse, close to FGF3|||||7(hph2)|| 11.154|3|2|95|11q13|ROM1, ROSP1|P|Rod outer segment membrane protein-1||180721|REa, A|digenic RP with RDS||Retinitis pigmentosa, digenic (3)|||19(Rosp1)|| 11.155|12|16|93|11q13|RT6|P|RT6 antigen (rat) homolog||180840|REa, A|||?{Susceptibility to IDDM} (1)|||7(Rt6)|| 11.156|9|17|92|11q13|SEA|C|Oncogene SEA (S13 avian erythroblastosis)||165110|REa, A, R||||||19(Sea)|| 11.157|7|13|93|11q13|SMTN|P|Somatotrophinoma||102200|D|||Somatotrophinoma (2)||||| 11.158|12|9|91|11q13|ST3|C|Suppression of tumorigenicity-3 (tumor-suppressor gene, HELA cell|type)|191181|S, D|||Cervical carcinoma (2)||||| 11.159|2|24|97|11q13|UBID4|P|ubi-d4/requiem (mouse) homolog||601671|A|||||||| 11.160|3|3|97|11q13|UCP2|P|Uncoupling protein-2||601693|Fd||||||7(Ucp2)|| 11.161|4|10|97|11q13|VMD2|C|Vitelliform macular dystrophy (Best disease)||153700|Fd, Psh|1 family not linked to 11||Macular dystrophy, vitelliform type (2)||||Forsman (1992); Stone (1992)| 11.162|1|27|97|11q13|VEGFB, VRF|P|Vascular endothelial growth factor B||601398|REc, Psh|||||||| 11.163|11|3|92|11q13|VRNI|P|Vitreoretinopathy, neovascular inflammatory||193235|Fd|||Vitreoretinopathy, neovascular inflammatory (2)||||| 11.164|3|31|97|11q13|ZNF162, D11S636, ZFM1|P|Zinc-finger protein 162||601516|REf, REa, A|||||||| 11.165|8|21|92|11q13-q14|ACTN3|P|Actinin, alpha-3||102574|REa, A|||||||| 11.166|10|23|87|11q13-q22|ESA4|C|Esterase-A4||133220|S||||||9(Es17)|| 11.167|9|12|93|11q13-q23|EVR1, FEVR|C|Exudative vitreoretinopathy-1 (autosomal dominant; Criswick-Schepens|syndrome)|133780|Fd|||Vitreoretinopathy, exudative, familial (2)||||Orth (1992); Sheffield (1992)| 11.168|10|23|87|11q13-qter|GANAB|P|Neutral alpha-glucosidase AB||104160|S|||||||| 11.169|6|16|89|11q13-qter|MSK39|P|Antigen defined by monoclonal antibody 5.1H11||107240|S|||||||| 11.170|12|11|95|11q13.1|PGL2, PGL, CBT1|C|Paraganglioma or familial glomus tumors 2||168000|Fd|shows imprinting; ?11q11-q21||Paraganglioma (2)||||Heuting (1992)| 11.171|3|23|93|11q13.1-q13.3|FKBP2|P|FK506-binding protein-2 (13kD)||186946|A|||||||| 11.172|1|8|95|11q13.1-q13.3|MLK3|P|Mixed lineage kinase 3||600050|A|||||||| 11.173|12|11|95|11q13.2-q13.4|IGHMBP2, SMUBP2, CATF1|P|Immunoglobulin mu binding protein 2||600502|A||||||19(Ighmbp2)|| 11.174|4|10|90|11q13.3|BCL1|C|B-cell CLL/lymphoma-1||151400|RE, Ch|t(11;14)(q13.3;q32.3); ?same as PRAD1||Leukemia/lymphoma, B-cell, 1 (2)||||| 11.175|3|23|93|11q13.3-q13.4|ZNF126|P|Zinc finger protein-126 (HZF-2)||194633|A|||||||| 11.176|10|20|92|11q13.3-q13.5|FOLR1|C|Folate receptor-1 (adult)||136430|REa, A, Fd, REn|telomeric of FGF3||||||| 11.177|10|20|92|11q13.3-q13.5|FOLR2|P|Folate receptor-2 (fetal)||136425|A, REn|23kb from FOLR1||||||| 11.178|1|9|94|11q13.3-q13.5|GALN, GLNN|P|Galanin||137035|Psh, A||||||19(Glnn)|| 11.179|3|18|95|11q13.3-q13.5|RNU15A|P|RNA, U15a small nucleolar||600455|Psh, A, REn|processed from intron of RPS3||||||| 11.180|3|18|95|11q13.3-q13.5|RPS3|P|Ribosomal protein S3||600454|Psh, A, REn|||||||| 11.181|7|11|95|11q13.4-q13.5|PC|C|Pyruvate carboxylase||266150|REa, H, A|||Pyruvate carboxylase deficiency (1)|||19(Pc)|| 11.182|1|9|94|11q13.4-q14.1|KCNA4|C|Potassium voltage-gated channel, shaker-related subfamily, member 4||176266|REa, A, H|other map to 11p|||||2(Kcna4)|| 11.183|3|23|93|11q13.4-q14.1|OMP|P|Olfactory marker protein||164340|REa, A|just proximal to TRY; defect in form of Usher syndrome|||||7(Omp)|| 11.184|1|1|96|11q13.5|CBP2|P|Collagen-binding protein 2 (colligen 2)||600943|A|||||||| 11.185|10|14|94|11q13.5|DFNB2, NSRD2|P|Deafness, autosomal recessive 2||600060|Fd|||Deafness, autosomal recessive 2 (2)|||7(sh1))|| 11.186|10|4|91|11q13.5|KRN1|C|Keratin, hair cuticle, ultrahigh-sulfur, 1||148021|A, R|||||||| 11.187|2|28|96|11q13.5|MYO7A, USH1B|P|Myosin VIIA||276903|Fd|||Usher syndrome, type 1B (3)|||7(sh1, Myo7a)|| 11.188|7|5|92|11q13.5-q14|D11S833E, GARP|P|DNA segment, single copy, expressed, probe pDB98||137207|A||||||7(Garp)|| 11.189|1|15|97|11q13.5-q14.1|P2RY2, P2Y2, P2U|P|Purinergic receptor P2Y, G-protein coupled, 2||600041|Psh|||||||| 11.190|4|21|97|11q14|FOLH, PSM|P|Folate hydrolase (prostate-specific membrane antigen)||600934|A|||||||| 11.191|10|12|90|11q14-q21|CLA1|L|Cerebellar ataxia-1||213200|F|?linked to ATN||||||| 11.192|11|30|89|11q14-q21|TYR|C|Tyrosinase||203100|REa, A, H, F|?linked to CPD3||Albinism, oculocutaneous, type IA (3)|||7(Tyr)|| 11.193|5|19|94|11q21|FUT4, FCT3A, CD15|C|Fucosyltransferase 4 (alpha (1,3) fucosyltransferase,|myeloid-specific)|104230|S, REa, R||||||9(Fut4)|| 11.194|10|22|95|11q21|MRE11|P|Meiotic recombination (S. cerevisiae) 11 homolog||600814|REa, A|like gene on 7q11.2-q11.3||||||| 11.195|9|16|96|11q21-q22|GUC1A2|P|Guanylate cyclase 1, soluble, alpha 2||601244|A|||||||| 11.196|9|29|96|11q21-q22|MMP7|C|Matrix metalloproteinase 7 (matrilysin, uterine)||178990|H, REa, Psh, A|||||||| 11.197|11|15|94|11q21-q22|MMP8, CLG1|P|Matrix metalloproteinase 8 (neutrophil collagenase)||120355|A|||||||| 11.198|9|29|95|11q21-q22|MTNR1B|P|Melatonin receptor 1B||600804|REa|||||||| 11.199|10|27|92|11q22|FDX1, ADX|C|Ferredoxin-1 (adrenodoxin)||103260|REa, A|pseudogene on 20q11-q12||||||| 11.200|6|5|89|11q22|PGR|C|Progesterone receptor||264080|REa, A, REb|11q13 = earlier regionalization|||||9(Pgr)|| 11.201|4|30|96|11q22-q23|DDX10|P|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)||601235|REa|400kb telomeric to ATM; pseudogene on 9q21-q22||||||| 11.202|3|1|94|11q22-q23|GRIA4, GLUR4|P|Glutamate receptor, ionotropic, AMPA 4||138246|Psh, A||||||9(Glur4)|| 11.203|11|15|94|11q22-q23|MMP1, CLG|C|Matrix metalloproteinase 1 (interstitial collagenase)||120353|REn|||||||| 11.204|4|11|97|11q22-q23|VACM1|P|Vasopressin-activated calcium-mobilizing receptor-1||601741|REc|||||||| 11.205|4|24|90|11q22-qter|ANC|L|Anal canal carcinoma||105580|Ch|3p22 also deleted||?Anal canal carcinoma (2)||||| 11.206|9|15|96|11q22-qter|SCN2B|P|Sodium channel, voltage-gated, type II, beta polypeptide||601327|H||||||9(Scn2b)|| 11.207|12|13|96|11q22.2-q22.3|IL1BC, CASP1|C|Interleukin-1, beta convertase (caspase-1)||147678|REa, A||||||9(Ilb1bc)|| 11.208|9|21|95|11q22.3|ATM, ATA, AT1|C|Ataxia-telangiectasia mutated (includes complementation groups A, C|and D)|208900|Fd, C, M|A, C, D = ~97% of cases; ?3 separate genes||Ataxia-telangiectasia (2)|||9(Atm)|| 11.209|1|7|95|11q22.3|GRIK4|P|Glutamate receptor, ionotropic, kainate 4||600282|REa, A||||||9(Grik4)|| 11.210|5|15|95|11q22.3|MMP13, CLG3|P|Matrix metalloproteinase 13 (collagenase 3)||600108|A, REn|||||||| 11.211|10|8|96|11q22.3|NPAT|P|NPAT gene||601448|REn|||||||| 11.212|7|13|94|11q22.3-q23|MMP10, STMY2|P|Matrix metalloproteinase 10 (stromelysin 2)||185260|A|||||||| 11.213|8|17|92|11q22.3-q23.1|ACAT|C|Acetyl-Coenzyme A acetyltransferase (acetoacetyl Coenzyme A thiolase)||203750|A|cluster: cen-STMY2-CLG-STMY1-ter||3-ketothiolase deficiency (3)||||Fukao (1990, 1992)| 11.214|1|18|94|11q22.3-q23.1|CRYAB, CRYA2|C|Crystallin, alpha B||123590|REa, A, Ch|||||||| 11.215|3|18|94|11q22.3-q23.3|PTS|P|6-pyruvoyltetrahydropterin synthase||261640|A|||Phenylketonuria due to PTS deficiency (3)||||| 11.216|3|15|91|11q23|APOLP1@|C|APOLIPOPROTEIN CLUSTER I|||RE|11q13 = earlier assignment||||||| 11.217|7|9|90|11q23|APOA1|C|Apolipoprotein A-I||107680|REa, RE, Fd, F, D|||ApoA-I and apoC-III deficiency, combined (3); Hypertriglyceridemia,|one form (3); Hypoalphalipoproteinemia (3); Amyloidosis, Iowa type,|107680.0010 (3)|9(Apoa1)|| 11.218|7|13|93|11q23|APOC3|C|Apolipoprotein C-III||107720|REa, RE, F|2.6kb 3' to APOA1||Hypertriglyceridemia (3)||||| 11.219|3|15|91|11q23|APOA4|C|Apolipoprotein A-IV||107690|F, RE|12 kb 3' to APOA1|||||9(Apoa4)|| 11.220|11|13|94|11q23|BRCA3|P|Breast cancer, 11;22 translocation associated||600048|Ch|associated with t(11;22)(q23;q11)||Breast cancer-3 (2)||||| 11.221|12|24|89|11q23|CD3D, T3D|C|CD3D antigen, delta polypeptide (TiT3 complex)||186790|REa, A, RE|3 CD3 genes in 50kb|||||9(T3d)|| 11.222|12|24|89|11q23|CD3E|P|CD3E antigen, epsilon polypeptide (TiT3 complex)||186830|REa, A, RE||||||9(T3e)|| 11.223|7|9|90|11q23|CD3G|C|CD3G antigen, gamma polypeptide (TiT3 complex)||186740|RE, REa, A||||||9(T3g)|| 11.224|8|29|96|11q23|CMT4B|P|Charcot-Marie-Tooth neuropathy 4B||601382|Fd|||Charcot-Marie-Tooth neuropathy-4b (2)||||| 11.225|12|24|89|11q23|DRD2|C|Dopamine receptor, D2||126450|Fd, REa, Ch|11q22-q23 junction; 150kb 5' to NCAM; centromeric to APOA1;|telomeric to STMY1|||||| 11.226|10|22|95|11q23|INPPL1|P|Inositol polyphosphate phosphatase-like 1||600829|Psh|||||||| 11.227|7|13|93|11q23|MLL, HRX, HTRX1|C|Myeloid/lymphoid, or mixed-lineage leukemia; trithorax (Drosophila)|homolog|159555|Ch, RE|fuses with ENL, AF4, AF9||Leukemia, myeloid/lymphoid or mixed-lineage (2)|||9(All1)|| 11.228|7|13|94|11q23|MMP3, STMY1|C|Matrix metalloproteinase 3 (stromelysin 1, progelatinase)||185250|REa, A|||||||| 11.229|5|27|93|11q23|RDX|P|Radixin||179410|REa, Psh, A|||||||| 11.230|6|20|94|11q23|TCPT|L|Thrombocytopenia, Paris-Trousseau type (deletion 11q23 syndrome)||188025|Ch|||?Thrombocytopenia, Paris-Trousseau type (2)||||| 11.231|11|14|96|11q23-q24|ITM1|P|Integral transmembrane protein 1||601134|REa, H||||||9(Itm1)|| 11.232|12|11|95|11q23-q24|PVRR1, PRR1|P|Poliovirus receptor related 1||600644|A|||||||| 11.233|8|31|92|11q23-q24|SRPR|C|Signal recognition particle receptor||182180|REa, A, Psh|||||||| 11.234|4|11|94|11q23-q25|APLP2|P|Amyloid beta (A4) precursor-like protein 2||104776|REa, A||||||9(Aplp2)|| 11.235|10|23|87|11q23.1|EBVM1|P|Epstein-Barr virus modification site-1||132860|V|||||||| 11.236|9|9|90|11q23.1|NCAM|C|Neural cell adhesion molecule||116930|A, Fd|defective in "staggerer" in mice|||||9(Ncam)|| 11.237|11|8|95|11q23.1|NNMT|P|Nicotinamide N-methyltransferase||600008|A|||||||| 11.238|7|13|93|11q23.1|PLZF|P|Promyelocytic leukemia zinc finger||176797|Ch, A|fused with RARA in APL of t(11;17) type||||||| 11.239|9|12|93|11q23.1|PORC|P|Porphyria, acute, Chester type||176010|Fd|separate from PBGD||Porphyria, Chester type (2)||||Norton (1991)| 11.240|4|23|96|11q23.1|POU2AF1, OBF1|P|POU domain, class 2, associating factor 1||601206|REa, A|||||||| 11.241|12|9|95|11q23.1-q23.2|HTR3|P|5-hydroxytryptamine (serotonin) receptor 3||182139|REa, A|||||||| 11.242|3|23|93|11q23.1-q23.2|ZNF123|P|Zinc finger protein-123 (HZF-1)||194630|A|||||||| 11.243|3|23|93|11q23.1-q23.2|ZNF125|P|Zinc finger protein-125 (HZF-3)||194632|A|||||||| 11.244|12|11|95|11q23.3|ARCN1|P|Archain 1||600820|Ch|60kb telomeric to MLL||||||| 11.245|6|21|91|11q23.3|CBL2|C|Cas-Br-M ectropic retroviral transforming sequence (Oncogene CBL2)||165360|REa, Ch||||||9(Cbl2)|| 11.246|3|4|96|11q23.3|DDX6, HLR2|P|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)||600326|Ch, REn|||||||| 11.247|1|13|93|11q23.3|ETS1|C|Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1||164720|REa, A, Ch|shown by HSR; 19cM distal to THY1; Ewing sarcoma breakpoint region-2|splices to EWSR1||||9(Ets1, Fli1)|| 11.248|7|4|95|11q23.3|HMBS, PBGD, UPS|C|Hydroxymethylbilane synthase||176000|S, D, Fd, REn|750kb from CD3G||Porphyria, acute intermittent (3)|||9(Ups)|| 11.249|3|18|95|11q23.3|IL10R|C|Interleukin 10 receptor||146933|REa, A|||||||| 11.250|3|18|94|11q23.3|RPS25|P|Ribosomal protein S25||180564|A|||||||| 11.251|7|4|95|11q23.3|THY1|C|Thy-1 T-cell antigen||188230|REa, HH, A, Fd, REn||||||9(Thy1)|| 11.252|10|4|95|11q23.3-q25|HSPA8, HSP73|P|Heat shock 70kD protein 8 (HSP73)||600816|REa, A|||||||| 11.253|11|6|94|11q24|FLI1|C|Friend leukemia virus integration 1||193067|REa, Ch, A|fused with EWS in Ewing sarcoma; within 200-400kb of ETS1||||||| 11.254|10|8|96|11q24|KCNJ1, ROMK1|C|potassium inwardly-rectifying channel, subfamily J, member 1||600359|A|||Bartter syndrome, type 2 (3)||||| 11.255|10|1|95|11q24|KCNJ5|P|Potassium inwardly-rectifying channel, subfamily J, member 5||600734|Psh, R, REc|||||||| 11.256|10|21|92|11q24-q25|NFRKB|P|Nuclear factor related to kappa B-binding protein||164013|REa, A|most telomeric 11q marker||||||| 11.257|10|14|94|Chr.11|AM|P|Adrenomedullin||103275|REa|||||||| 11.258|5|18|90|Chr.11|CAPN1|P|Calpain, large polypeptide L1||114220|REb|||||||| 11.259|7|3|88|Chr.11|CD6, TP120|P|CD6 antigen||186720|S|||||||| 11.260|4|13|92|Chr.11|CD57, LEU7|P|CD57 antigen (LEU7)||151290|S|||||||| 11.261|6|14|95|Chr.11|ERVT2, TRV2|P|Endogenous retroviral sequence, truncated 2 (band T2, 21.0kb)||190950|REa|||||||| 11.262|4|10|90|Chr.11|FRV1|P|Full-length endogenous retroviral sequence-1||136840|REa|||||||| 11.263|6|6|91|Chr.11|GIF|P|Gastric intrinsic factor||261000|REa|||Anemia, pernicious, congenital, due to deficiency of intrinsic|factor (1)|||| 11.264|7|11|95|Chr.11|OPCML|P|Opioid-binding protein/cell adhesion molecule-like||600632|REa, H|?on 11q22-q23|||||9(Obcam)|| 11.265|1|20|97|Chr.11|PTP4A2, HH72|P|Protein tyrosine phosphatase IVA2||601585|Psh|||||||| 11.266|1|11|93|Chr.11|SIAT4, CGS23, NANTA3|P|Sialyltransferase-4 (CMP-N-acetylneuraminate: [beta-galactosidase|alpha-2,3])|104240|S|||||||| 11.267|1|26|97|Chr.11|ZNF75C|P|Zinc-finger protein 75C||601474|REa|||||||| 12.1|10|15|94|12pter-p12|CD4|C|CD4 antigen (p55)||186940|REa, A|CD = \`cluster of differentiation\' = nomenclature|of leukocyte differentiation antigens|[CD4(+) lymphocyte deficiency] (2); {Lupus erythematosus,|susceptibility to} (2)||6(Ly4)|| 12.2|10|23|87|12pter-q12|BCT1|C|Branched chain aminotransferase-1||113520|S|||?Hyperleucinemia-isoleucinemia or hypervalinemia (1)||||| 12.3|2|22|92|12p13.32|LAG3|P|Lymphocyte activation gene-3||153337|A|||||||| 12.4|3|14|96|12p13.31|DRPLA|C|Dentatorubro-pallidoluysian atrophy||125370|Fd, D, A|||Dentatorubro-pallidoluysian atrophy (3)||||| 12.5|10|23|87|12p13.31-p13.1|GAPD|C|Glyceraldehyde-3-phosphate dehydrogenase||138400|S, D, R||||||6(Gapd)|| 12.6|7|13|93|12p13.3|CCHL1A1|C|Calcium channel, isoform 1, alpha-1 polypeptide (cardiac muscle)||114205|Psh, Fd, REa, A|||||||| 12.7|11|28|94|12p13.3|SLC2A3, GLUT3|P|Solute carrier family 2 (facilitated glucose transporter), member 3||138170|A|||||||| 12.8|1|9|94|12p13.3|VWF, F8VWF|C|Coagulation factor VIII VWF (von Willebrand factor)||193400|A, REa, REb, Fd|pseudogene on chr. 22||von Willebrand disease (3)|||6(Vwf)|| 12.9|9|9|90|12p13.3-p12.3|A2M|C|Alpha-2-macroglobulin||103950|REa, A|cluster of genes||Emphysema due to alpha-2-macroglobulin deficiency (1)|||6(A2m)|| 12.10|1|6|93|12p13.3-p11.2|ACLS|L|Acrocallosal syndrome||200990|Ch|inverted tandem duplication||?Acrocallosal syndrome (2)||||Pfeiffer (1992)| 12.11|3|27|90|12p13.2|PR@|P|SALIVARY PROLINE-RICH PROTEIN COMPLEX|||F, A, RE|6 loci in 2 subfamilies; in 700 kb: PRH1, PRH2, PRB1, PRB2,|PRB3, PRB4||||6(Prp)|| 12.12|3|27|90|12p13.2|PRB1|P|Proline-rich protein BstNI, subfamily-1||180989|F, RE|||||||| 12.13|3|27|90|12p13.2|PRB2|C|Proline-rich protein BstNI, subfamily-2 (parotid size variant)||168810|F, RE|Ps allele||||||| 12.14|3|27|90|12p13.2|PRB3|C|Proline-rich protein BstNI, subfamily-3 (parotid salivary|glycoprotein)|168840|LD, F, RE|G1 allele||||||| 12.15|3|27|90|12p13.2|PRB4|C|Proline-rich protein BstNI, subfamily-4||180990|F, RE|Po, CON1, CON2 alleles||||||| 12.16|4|10|90|12p13.2|PRH1|C|Proline-rich protein HaeIII, subfamily-1||168730|F, LD, RE|Pa, Db, PIF alleles||||||| 12.17|3|27|90|12p13.2|PRH2|C|Proline-rich protein HaeIII, subfamily-2||168790|F, LD, RE|Pr allele||||||| 12.18|1|28|88|12p13.2|PCS|P|Parotid proline-rich salivary protein Pc||168710|F|linked to PRB2||||||| 12.19|2|9|92|12p13.2|TNFR1|C|Tumor necrosis factor receptor-1 (55kD)||191190|REa, A, Psh||||||6(Tnfr2)|| 12.20|1|6|97|12p13.2-p13.1|CLAPS3|P|Clathrin-associated/assembly/adaptor protein, small 3 (22kD)||601507|A|||||||| 12.21|1|6|97|12p13.2-q24.1|IBD2|P|Inflammatory bowel disease-2||601458|Fd, LD|||Inflammatory bowel disease-2 (2)||||| 12.22|1|7|95|12p13.1|APOBEC1, BEDP|C|Apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1||600130|A|||||||| 12.23|4|9|96|12p13.1-p12.3|MAGP2|P|Microfibril-associated glycoprotein-2||601103|A|||||||| 12.24|4|2|90|12p13|C1R|C|Complement component-1, r subcomponent||216950|REa, Fd, RE, A|||C1r/C1s deficiency, combined (1)||||| 12.25|4|2|90|12p13|C1S|C|Complement component-1, s subcomponent||120580|REa, Fd, RE, A|||C1r/C1s deficiency, combined (1)||||| 12.26|7|12|92|12p13|CCND2|C|Cyclin D2||123833|REa, A|||||||| 12.27|6|5|89|12p13|CD9, MIC3|C|CD9 antigen (p24)||143030|S, REa, A|||||||| 12.28|12|4|95|12p13|CD27|P|CD27 antigen||186711|Psh, A|||||||| 12.29|12|4|95|12p13|CDKN1B, KIP1, CDKN4|C|Cyclin-dependent kinase inhibitor 1B (p27, Kip1)||600778|Psh, A, REc, REn|||||||| 12.30|4|10|96|12p13|CHLR2|P|Chl1-related helicase gene-2||601151|Psh, A|||||||| 12.31|8|11|91|12p13|ENO2|C|Enolase-2, gamma, neuronal||131360|S, D, A, REa|||||||| 12.32|12|17|95|12p13|ETV6, TEL|C|ets variant gene 6 (TEL oncogene)||600618|RE, Fd, D|fused to PDGFRB or AML1 in leukemia||Leukemia, acute lymphoblastic (1)||||| 12.33|3|18|94|12p13|FGF6|C|Fibroblast growth factor-6||134921|A, Ch, Psh|||||||| 12.34|2|9|92|12p13|GNB3|C|Guanine nucleotide-binding protein, beta polypeptide-3||139130|REa, A||||||6(Gnb3)|| 12.35|10|8|96|12p13|ISOT|P|Ubiquitin isopeptidase T||601447|REn|||||||| 12.36|2|11|96|12p13|KCNA1, AEMK, EA1|C|Potassium voltage-gated channel, shaker-related subfamily, member 1||176260|REa, Fd, A, H|close to VWF||Episodic ataxia/myokymia syndrome, 160120 (3)|||6(Kcna1)|| 12.37|3|1|94|12p13|KCNA5|C|Potassium voltage-gated channel, shaker-related subfamily, member 5||176267|REa, Fd, H||||||6(Kcna5)|| 12.38|3|17|94|12p13|KCNA6|L|Potassium voltage-gated channel, shaker-related subfamily, member 6||176257|REa||||||6(Kcna6)|| 12.39|12|4|95|12p13|M6PR|C|Mannose-6-phosphate receptor, cation-dependent||154540|REa, Psh, A||||||6(Mprd)|| 12.40|8|29|96|12p13|MLF2|P|Myeloid leukemia factor-2||601401|A, REc|||||||| 12.41|6|4|89|12p13|MPE|L|Malignant proliferation, eosinophil||131440|Ch|||?Eosinophilic myeloproliferative disorder (2)||||| 12.42|10|15|94|12p13|NOL1|P|Nucleolar protein 1 (120kD)||164031|Psh, A|||||||| 12.43|6|21|91|12p13|NTF3|C|Neurotrophin-3||162660|A, REa||||||6(Ntf3)|| 12.44|1|6|93|12p13|PTPN6|P|Protein tyrosine phosphatase, non-receptor type, 6||176883|A||||||6(Hcph)|| 12.45|12|13|96|12p13|PXR1|P|Peroxisome receptor 1||600414|A|||Adrenoleukodystrophy, neonatal, 202370 (3)||||| 12.46|3|18|94|12p13|RBTNL2|P|Rhombotin-like 2||180386|A, Ch|expressed mainly in brain||||||| 12.47|4|1|96|12p13|SCNN1A|C|Sodium channel, nonvoltage-gated 1, alpha||600228|REa, Psh, A, Fd|||Pseudohypoaldosteronism, type I, 264350 (3)|||6(Scnn1)|| 12.48|2|18|96|12p13|TNFCR, LTBR|L|Tumor necrosis factor C receptor (lymphotoxin-beta receptor)||600979|H|tightly linked to TNFR1 in mouse|||||6(Tnfcr)|| 12.49|10|23|87|12p13|TPI1|C|Triosephosphate isomerase-1||190450|S, D, R, REa|||Hemolytic anemia due to triosephosphate isomerase deficiency (3)|||6(Tpi1)|| 12.50|6|8|89|12p13-p12.2|PZP|P|Pregnancy zone protein||176420|REa, A|||||||| 12.51|3|18|95|12p13-q12.2|RAD52|P|RAD52, yeast, human homolog of||600392|Psh, A|||||||| 12.52|3|1|94|12p13-p12|CD69|C|CD69 antigen (p60, early T-cell activation antigen)||107273|REa, A|||||||| 12.53|6|13|95|12p13-p12|PTPRO, GLEPP1|P|Protein tyrosine phosphatase, receptor-type, O||600579|A|||||||| 12.54|6|21|94|12p13-qter|ATP5B, ATPSB|C|ATP synthase, H+ transporting, mitochondrial F1 complex, beta|polypeptide|102910|REa, REb|||||||| 12.55|4|25|93|12p12.3-p12.1|IAPP|C|Islet amyloid polypeptide (diabetes-associated peptide; amylin)||147940|REa, A|||||||| 12.56|11|18|96|12p12.2|GYS2|P|Glycogen synthase-2 (liver)||138571|A|||Glycogen synthase, liver, deficiency of, 240600 (1)||||| 12.57|10|23|87|12p12.2-p12.1|LDHB|C|Lactate dehydrogenase B||150100|S, D, Fd||||||6(Ldh2)|| 12.58|9|9|96|12p12.2-p11.2|HTNB|P|Hypertension with brachydactyly||112410|Fd|||Hypertension with brachydactyly (2)||||| 12.59|2|9|92|12p12.1|KRAS2, RASK2|C|Kirsten rat sarcoma-2 viral (v-Ki-ras2) oncogene homolog||190070|REa, A, Fd|||Colorectal adenoma (1); Colorectal cancer (1)|||6(Kras2)|| 12.60|2|9|92|12p12.1-p11.2|PTHLH|P|Parathyroid hormone-like hormone||168470|REa, A|||?Humoral hypercalcemia of malignancy (1)|||6(Pthlh)|| 12.61|3|14|96|12p12.1-p11.2|SIAT8|C|Sialyltransferase 8 (alpha-N-acetylneuraminate:|alpha-2,8-sialytransferase, GD3 synthase)|601123|Psh, A||||||6(Siat8)|| 12.62|11|6|94|12p12|GRIN2B, NMDAR2B|P|Glutamate receptor, ionotropic, N-methyl D-aspartate 2B||138252|A, REa|candidate for DRPLA|||||6(Nmdar2b)|| 12.63|9|16|96|12p12|GUC2C, GUCY2C|P|Guanylate cyclase 2C (heat stable enterotoxin receptor)||601330|A||||||6(Gucy2c)|| 12.64|9|23|96|12p12|SKP1B|P|S-phase kinase-associated protein 1B (p19B)||601435|A|||||||| 12.65|6|13|95|12p12-p11|RECQL|P|RecQ protein-like (DNA helicase Q1-like)||600537|Psh, A|||||||| 12.66|1|1|96|12p11.23|KCNJ8|P|Potassium inwardly-rectifying channel, subfamily J, member 8||600935|A|||||||| 12.67|1|26|97|12p11.2|KRAG|P|Kirsten-ras associated gene||601599|A|||||||| 12.68|1|5|96|12p11.2-q11|KRT4, CYK4|C|Keratin-4||123940|REa, A|a class II keratin; probably in cluster with other keratin genes||White sponge nevus (3)||||| 12.69|4|10|96|12p11|CHLR1|P|Chl1-related helicase gene-1||601150|Psh, A|||||||| 12.70|12|4|95|12p11|RBBP2|P|Retinoblastoma-binding protein 2||180202|Psh, A|||||||| 12.71|10|15|94|12p11|ITPR2|P|Inositol 1,4,5-triphosphate receptor, type 2||600144|A|||||||| 12.72|10|23|87|12p11-qter|CS|C|Citrate synthase, mitochondrial||118950|S, D||||||10(Cs)|| 12.73|1|28|88|12p|KAR|L|Aromatic alpha-keto acid reductase||107920|S|?same as MDH1||||||| 12.74|10|15|91|12p|MGP|P|Matrix Gla protein||154870|REa||||||6(Mglap)|| 12.75|5|19|94|12p|MIC17, BB1|P|Antigen identified by monoclonal antibody BB1||185595|S|?relation to LAB7 on 3||||||| 12.76|12|4|90|12p|SYB1|P|Synaptobrevin-1||185880|REa||||||6(Syb1)|| 12.77|5|15|95|12cen-q21|SYT1|C|Synaptotagmin-1||185605|REa, H||||||10(Syt1)|| 12.78|1|8|95|12q11-q12|CNTN1|P|Contactin 1||600016|A|||||||| 12.79|1|25|93|12q11-q13|ITGA5, FNRA, VLA5A|C|Integrin, alpha-5 (fibronectin receptor, alpha subunit; very late|activation protein-5, alpha subunit)|135620|REa, A||||||15(Itga5)|| 12.80|3|18|95|12q11-q13|KRT1|C|Keratin-1||139350|H, REa, A|close to Hox-3 in mouse; class II keratin||Epidermolytic hyperkeratosis, 113800 (3); Keratoderma, palmoplantar,|nonepidermolytic (3)||15(Krt2)|Chipev (1992); Compton (1992)| 12.81|6|7|95|12q11-q13|KRT2A, KRT2E|P|Keratin-2A||600194|Fd|||Ichthyosis bullosa of Siemens, 146800 (3)||||| 12.82|9|15|93|12q11-q13|KRT5|P|Keratin-5||148040|A, Fd|||Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3);|Epidermolysis bullosa simplex, Koebner type, 131900 (3);|Epidermolysis bullosa, Weber-Cockayne type, 131800 (3)||Bonifas (1991); McKenna (1992)| 12.83|1|7|95|12q11-q13|PPKB|P|Palmoplantar keratoderma, Bothnia type||600231|Fd|||Palmoplantar keratoderma, Bothnia type (2)||||| 12.84|7|8|96|12q11-q14|ACVRLK1, ALK1, HHT2|C|Activin A receptor, type II-like kinase 1||601284|REc|||Hereditary hemorrhagic telangiectasia 2, 600376 (3)||||| 12.85|7|13|93|12q11-q21|H1F4|C|H1 histone, family 4||142220|A|?same as H1.4 on 6p||||||| 12.86|1|30|95|12q12-q13|ADCY6|C|Adenylate cyclase 6||600294|A, REa||||||15(Adcy6)|| 12.87|10|1|95|12q12-q13|CD63, MLA1|P|CD63 antigen (melanoma 1 antigen)||155740|REa, A||||||10(Cd63)|| 12.88|10|15|94|12q12-q13|KRT3|P|Keratin-3||148043|A|||||||| 12.89|8|14|92|12q12-q13|PRPH|P|Peripherin||170710|A||||||15(Prph)|| 12.90|10|1|95|12q12-q13|TEGT|P|Testis enhanced gene transcript||600748|REa, A||||||15(Tegt)|| 12.91|4|30|91|12q12-q13|WNT1, INT1|C|Wingless-type MMTV integration site 1 (oncogene INT1)||164820|REa, A||||||15(Int1, Wnt1)|| 12.92|7|4|95|12q12-q14|KRT6A|P|Keratin-6A||148041|REa, A|||Pachyonychia congenita, Jadassohn-Lewandowsky type (3)||||| 12.93|12|13|95|12q12-q14|KRT7|P|Keritin 7||148059|REa, A|||||||| 12.94|3|18|94|12q12-q14|VDR|P|Vitamin D (1,25-dihydroxyvitamin D3) receptor||277440|REa, A|||Rickets, vitamin D-resistant (3); ?Osteoporosis, involutional (1)||||| 12.95|12|20|96|12q13|AAA|P|Achalasia-addisonianism-alacrimia syndrome||231550|Fd|||Achalasia-addinsonianism-alacrimia syndrome (2)||||| 12.96|12|13|95|12q13|AMHR|P|Anti-Mullerian hormone receptor||600956|A|||Persistent Mullerian duct syndrome, type II, 261550 (3)||||| 12.97|6|5|94|12q13|AQP2|C|Aquaporin 2 (collecting duct)||107777|A|||Diabetes insipidus nephrogenic, autosomal recessive (3)||||| 12.98|9|15|96|12q13|AQP2L|C|Aquaporin 2-like, kidney specific||601383|Psh, A|||||||| 12.99|9|2|96|12q13|AQP5|P|Aquaporin 5||600442|A||||||15(Aqp2)|| 12.100|6|27|95|12q13|ATF1, TREB36|P|Activating transcription factor 1||123803|A, Ch|fused with EWS in soft tissue clear cell sarcoma||||||| 12.101|5|19|94|12q13|CDK2|P|Cyclin-dependent kinase 2||116953|A|||||||| 12.102|11|8|95|12q13|ELA1|C|Elastase-1||130120|REa, A, REc|on proximal 12p|||||15(Ela1)|| 12.103|4|25|90|12q13|ERBB3|P|Transformation gene ERBB-3||190151|A|||||||| 12.104|10|23|95|12q13|FXR1|P|Fragile X mental retardation, autosomal homolog||600819|REa, A|||||||| 12.105|9|7|90|12q13|HMR, NP10|P|Nuclear protein N10, growth factor inducible||139139|A||||||15(np10)|| 12.106|2|26|93|12q13|HOXC@, HOX3@|C|HOMEO BOX C CLUSTER|||REa, A, H, RE|order: C13, C12, C9, C8, C6, C5, C4|||||15(Hox3)|| 12.107|2|26|93|12q13|HOXC4, HOX3E|C|Homeo box-C4||142974|RE|||||||| 12.108|2|26|93|12q13|HOXC5, HOX3D|C|Homeo box-C5||142973|RE||||||15(Hox6.2)|| 12.109|2|26|93|12q13|HOXC6, HOX3C|C|Homeo box-C6||142972|RE||||||15(Hox6.1)|| 12.110|2|26|93|12q13|HOXC8, HOX3A|C|Homeo box-C8||142970|RE||||||15(Hox3.1)|| 12.111|2|26|93|12q13|HOXC9, HOX3B|C|Homeo box-C9||142971|RE||||||15(Hox3.2)|| 12.112|2|26|93|12q13|HOXC12, HOX3F|C|Homeo box-C12||142975|RE|||||||| 12.113|2|26|93|12q13|HOXC13, HOX3G|C|Homeo box-C13||142976|RE|||||||| 12.114|12|9|91|12q13|HPV18I2|C|Human papillomavirus type 18 integration site-2||167960|REa, A|on 8 near MYC in HeLa||||||| 12.115|6|13|95|12q13|ITGA7|P|Integrin, alpha 7||600536|A|||||||| 12.116|10|17|96|12q13|KRT18|C|Keratin-18||148070|REn, A|contiguous to KRT8, type II heteromer partner||{?Liver disease, susceptibility to, from hepatotoxins or viruses|(1)}|||| 12.117|10|23|87|12q13|LALBA|P|Lactalbumin, alpha||149750|REa, A|||||||| 12.118|5|15|95|12q13|MIP|C|Major intrinsic protein of lens fiber||154050|REa, A|slightly distal to AQP2|||||10(Mip)|| 12.119|1|23|96|12q13|MLX|C|Monilethrix||158000|Fd|presumed type II keratin defect||Monilethrix (2)||||| 12.120|10|15|94|12q13|NFE2|C|Nuclear factor, erythroid-derived 2, 45kD||601490|A, H||||||15(Nfe2)|| 12.121|5|15|95|12q13|NRAMP2|P|Natural resistance-associated macrophage protein 2||600523|A|||||||| 12.122|8|11|91|12q13|RARG|C|Retinoic acid receptor, gamma polypeptide||180190|A, REa||||||15(Rarg)|| 12.123|10|1|95|12q13|SCN8A|P|Sodium channel, voltage gated, type VIII, alpha polypeptide||600702|REa, A|candidate gene for neurodegenerative disease|||||2(med, Scn8a)|| 12.124|7|13|93|12q13|SHMT2, GLYA|C|Serine hydroxymethyltransferase||138450|S, R, A|glycine A auxotroph||||||| 12.125|4|24|96|12q13|TFCP2|C|Transcription factor CP2, alpha globin||189889|REa, H, A|||||||| 12.126|3|18|95|12q13|ZPK|P|Zipper (leucine) protein kinase||600447|REa, A|||||||| 12.127|1|9|96|12q13-q14|D12S53E, PMEL17|P|Melanocyte protein mel 17||155550|REa||||||10(D12S53Eh)|| 12.128|10|18|96|12q13-q14|GCN5L1|P|GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1||601444|A|||||||| 12.129|10|23|92|12q13-q14|GSTPL, GST3L|P|Glutathione S-transferase pi-like||138335|A|||||||| 12.130|4|25|93|12q13-q14|PAB1|P|Polyadenylate-binding protein-1||173865|A|?pseudogenes on 3q and 13q||||||| 12.131|10|15|91|12q13-q14|SAS|P|Sarcoma amplified sequence||181035|REa, A|||||||| 12.132|11|12|96|12q13-q15|MYO1A|P|Myosin IA||601478|A||||||10(Myo1a)|| 12.133|9|30|95|12q13-q21|ENUR2|P|Enuresis, nocturnal, 2||600808|Fd|||Enuresis, nocturnal, 2 (2)||||| 12.134|12|11|91|12q13-q21|TAC3, NKNB|P|Tachykinin 3 (neuromedin K, neurokinin B)||162330|REa, A|||||||| 12.135|3|18|94|12q13-qter|ZNF10, KOX1|C|Zinc finger protein-10 (KOX 1)||194538|REa|same 300kb fragment as ZNF26||||||| 12.136|4|25|93|12q13.1|HEM1|P|Hematopoietic protein-1||141180|REb, A|||||||| 12.137|2|9|92|12q13.1|HNRPA1|P|Heterogeneous nuclear ribonucleoprotein A1||164017|A|||||||| 12.138|1|27|97|12q13.1|INHBC|P|Inhibin, beta C||601233|A||||||10(Inhbc)|| 12.139|11|4|93|12q13.1|SP1|C|Sp1 transcription factor||189906|REa, A||||||15(Sp1)|| 12.140|3|18|94|12q13.1-q13.2|DDIT3, GADD153, CHOP10|C|DNA-damage-inducible transcript-3||126337|REa, A, Ch|fused with FUS in myxoid liposarcoma||Myxoid liposarcoma (3)||||| 12.141|8|25|94|12q13.1-q13.3|LRP1, A2MR|C|Low density lipoprotein-related protein-1 (alpha-2-macroglobulin|receptor)|107770|A||||||15(A2mr)|| 12.142|10|4|93|12q13.11-q13.2|COL2A1|C|Collagen, type II, alpha-1 polypeptide||120140|REa, A|||Stickler syndrome, type I (3); SED congenita (3); Kniest dysplasia|(3); Achondrogenesis-hypochondrogenesis, type II (3); Osteoarthrosis,|precocious (3); Wagner syndrome, type II (3); SMED Strudwick type (3)||| 12.143|7|12|92|12q13.13|ITGB7|C|Integrin, beta-7||147559|REa, A||||||15(Itgb7)|| 12.144|7|17|91|12q13.2-q13.3|GLI|C|Glioma-associated oncogene homolog (zinc finger protein)||165220|REa, A||||||10(Gli)|| 12.145|1|1|95|12q13.2-q24.1|FEOM, CFEOM|P|Fibrosis of the extraocular muscles, congenital||135700|Fd|||Fibrosis of the extraocular muscles, congenital (2)||||| 12.146|10|4|94|12q13.3|DAGK1|C|Diacylglycerol kinase, alpha (80kD)||125855|REa, A, H||||||10(Dagk1)|| 12.147|9|28|96|12q13.3|PFKM|P|Phosphofructokinase, muscle type||232800|Psh, A, Fd|incorrectly assigned to chr.1||Glycogen storage disease VII (3)||||| 12.148|12|4|96|12q13.3-q15|SPPM, SPMD|P|Scapuloperoneal syndrome, myopathic type||181430|Fd|?about 20cM centromeric to SPSMA||Scapuloperoneal syndrome, myopathic type (2)||||| 12.149|1|9|96|12q14|CDK4|C|Cyclin-dependent kinase 4||123829|A|||Melanoma (3)||||| 12.150|3|27|90|12q14|GNS, G6S|P|N-acetylglucosamine-6-sulfatase||252940|A, REa|||Sanfilippo syndrome, type D (1)||||| 12.151|2|12|96|12q14|IFNG|C|Interferon, gamma||147570|REa, A|3 introns; none in IFF, IFL||Interferon, immune, deficiency (1)|||10(Ifg)|| 12.152|7|17|91|12q14|PDDR, VDD1|C|Pseudo-vitamin D dependency rickets 1||264700|Fd|||Pseudo-vitamin D dependency rickets 1 (2)||||| 12.153|9|15|89|12q14|RAP1B|P|RAS-related protein RAP1B||179530|A|||||||| 12.154|9|12|95|12q14.3-q15|MDM2|C|Mouse double minute 2, human homolog of; p53-binding protein||164785|REa, A||||||10(Mdm2)|| 12.155|3|18|94|12q15|BABL, LIPO|C|Lipoma (breakpoint in benign lipoma)||151900|Ch|?same as HMGIC||Lipoma, benign (2); ?Multiple lipomatosis (2)||||| 12.156|2|18|96|12q15|CPM|P|Carboxypeptidase M||114860|Psh, REc, A|||||||| 12.157|8|30|95|12q15|HMGIC|C|High mobility group protein HMGI-C||600698|A, Psh, Ch, RE, Fd|||Lipoma (3); Salivary adenoma (3); Uterine leiomyoma (3)|||10(pg, Hmgic)|| 12.158|4|25|93|12q15-q21|PTPRB|P|Protein-tyrosine phosphatase, receptor-type, beta polypeptide||176882|A|||||||| 12.159|5|15|95|12q21|CNA2|C|Cornea plana 2 (autosomal recessive)||217300|Fd, LD|||Cornea plana congenita, recessive (2)||||| 12.160|2|20|97|12q21|DSPG3|P|Dermatan sulphate proteoglycan 3||601657|A, REc|||||||| 12.161|9|29|96|12q21|MYF6|C|Myogenic factor-6||159991|REa, A, RE, REc|6.5kb upstream from MYF5; both prob. 12q15, by H|||||10(Myf6)|| 12.162|10|23|87|12q21|PEPB|C|Peptidase B||169900|S||||||10(Pep2)|| 12.163|4|12|92|12q21-q23|ATP2B1, PMCA1|P|ATPase, Ca++ transporting, plasma membrane, 1||108731|REa, A|||||||| 12.164|7|11|95|12q21.3-q22|LDC|C|Lumican||600616|A, Psh||||||10(Ldc)|| 12.165|3|17|94|12q22|BTG1|P|B-cell translocation gene 1, anti-proliferative||109580|Ch|||||||| 12.166|10|1|95|12q22|LTA4H|P|Leukotriene A4 hydrolase||151570|A|||||||| 12.167|1|12|95|12q22|MGCT|C|Male germ cell tumor||273300|D, Ch|||Male germ cell tumor (2)||||| 12.168|1|23|93|12q22|MGF|C|Mast cell growth factor||184745|REa, A||||||10(Sl; Scf)|| 12.169|3|18|95|12q22|NEDD1|P|Neural precursor cell expressed, developmentally down-regulated 1||600372|A|||||||| 12.170|10|1|95|12q22|TMPO|P|Thymopoietin||188380|A||||||10(Tmpo)|| 12.171|1|26|95|12q22|ZNF144, MEL18|P|Zinc finger protein-144 (Mel-18)||600346|A||||||10(Mel18)|| 12.172|1|1|96|12q22-q23|ASCL1, ASH1|C|Achaete-scute complex (Drosophila) homolog-like 1||100790|REa, A|distal to PAH and proximal to TRA1||||||| 12.173|4|24|90|12q22-q23|HAL, HSTD|C|Histidine ammonia-lyase (histidase)||235800|REa, A|||[Histidinemia] (1)|||10(Hstd)|| 12.174|11|11|91|12q22-q23|NFYB|P|Transcription factor NF-Y, B subunit||189904|REa, A||||||10(Nfyb)|| 12.175|12|3|96|12q22-q24.1|IGF1|C|Insulin-like growth factor-1, or somatomedin C||147440|REa, A, Fd|||Growth retardation with deafness and mental retardation (3)|||10(Igf1)|| 12.176|2|28|89|12q22-qter|ACADS|P|Acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain||201470|REa|||Acyl-CoA dehydrogenase, short-chain, deficiency of (3)|||5(Bcd1)|| 12.177|1|7|95|12q22-qter|NS1|P|Noonan syndrome 1||163950|Fd|||Noonan syndrome-1 (2)||||| 12.178|4|25|93|12q23|DCN|C|Decorin||125255|REa, A||||||10(Dcn)|| 12.179|1|7|95|12q23|ELK3, SAP2|P|ELK3, ETS-domain protein (SRF accessory protein 2)||600247|REa||||||6(Scnn1)|| 12.180|11|9|95|12q23|PHC|C|Phosphate carrier, mitochondrial||600370|REa, A|||||||| 12.181|6|8|95|12q23-q24|CLTA|P|Clathrin, light polypeptide (Lca)||118960|REa, A|||||||| 12.182|1|12|95|12q23-q24|EPS8|P|Epidermal growth factor receptor pathway substrate 8||600206|REa, A|||||||| 12.183|1|9|95|12q23-q24|EPS8|P|Epidermal growth factor receptor pathway substrate 8||600206|REa, A|||||||| 12.184|3|18|94|12q23-q24|PMCH|C|Pro-melanin-concentrating hormone||176795|REa, A|||||||| 12.185|9|15|93|12q23-q24.1|ATP2A2, ATP2B|C|ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2||108740|REa, A||||||11(Atpb2)|| 12.186|12|16|93|12q23-q24.1|DAR|C|Darier disease (keratosis follicularis)||124200|Fd|||Darier disease (keratosis follicularis) (2)||||| 12.187|1|27|97|12q23-q24.1|NACA|P|Nascent-polypeptide-associated complex alpha polypeptide||601234|A, REa|||||||| 12.188|4|10|96|12q23-q24.1|PLA2G1B, PLA2A, PLA2, PPLA2|C|Phospholipase A2, group IB (pancreas)||172410|REa, Fd|||||||| 12.189|1|23|96|12q23-q24.1|UMS|P|Ulnar mammary syndrome||181450|Fd|||Ulnar mammary syndrome (2)||||| 12.190|7|12|92|12q23-q24.3|MYL2|P|Myosin, light polypeptide-2, regulatory, cardiac, slow||160781|A, REa|||||||| 12.191|12|3|95|12q24|DAO, DAMOX|C|D-amino-acid oxidase||124050|REa, Fd, LD|tightly linked to SCA2||||||| 12.192|10|22|96|12q24|NIDDM2|P|Non-insulin-dependent diabetes mellitus (common, type 2) 2||601407|Fd|?allelic to MODY3||Diabetes, non-insulin-dependent, with insulin secretion defect|(2)|||| 12.193|12|13|96|12q24|ATX2, SCA2|C|Ataxin-2||601517|Fd|||Spinocerebellar ataxia-2, 183090 (3)||||| 12.194|10|1|95|12q24|SELPLG|P|Selectin P ligand||600738|REa, A||||||5(Selpl)|| 12.195|8|29|96|12q24|SMA4, HMN2|P|Spinal muscular atrophy-4||158590|Fd|between D12S86 and D12S340||Spinal muscular atrophy-4 (2)||||| 12.196|9|9|96|12q24-qter|HPD, PPD|C|4-hydroxyphenylpyruvate dioxygenase||276710|REa, A|||Tyrosinemia, type III (1)||||| 12.197|10|12|90|12q24.1|PAH, PKU1|C|Phenylalanine hydroxylase||261600|REa, A, Fd|close to IGF1||Phenylketonuria (3); [Hyperphenylalaninemia, mild] (3)|||10(Pah)|| 12.198|9|9|96|12q24.1|BCL7A, BCL7|P|B-cell CLL/lymphoma 7||601406|Ch|||B-cell non-Hodgkin lymphoma, high-grade (3)||||| 12.199|1|8|95|12q24.1|PTPN11|P|Protein tyrosine phosphatase, non-receptor type 11||176876|A|||||||| 12.200|2|20|97|12q24.1|TBX3|C|T-box 3||601621|REc||||||5(Tbx3)|| 12.201|2|19|97|12q24.1|TBX5|C|T-box 5||601620|Fd, REc, Ch|||Holt-Oram syndrome, 142900 (3)|||5(Tbx5)|| 12.202|8|16|94|12q24.1-q24.2|PPP1CC|C|Protein phosphatase 1, catalytic subunit, gamma isoform||176914|REa, A||||||10(Ppp1cc)|| 12.203|12|4|96|12q24.1-q24.31|SPSMA|P|Scapuloperoneal spinal muscular atrophy, New England type||181405|Fd|||Scapuloperoneal spinal muscular atrophy, New England type (2)||||| 12.204|3|27|90|12q24.2|ALDH2|C|Aldehyde dehydrogenase-2, mitochondrial||100650|REa, A, H|||Alcohol intolerance, acute (3); {?Fetal alcohol syndrome} (1)|||4(Aldh2)|| 12.205|12|20|96|12q24.2|TCF1, HNF1A, MODY3|C|Interferon production regulator factor (HNF1), albumin proximal factor||142410|A, Fd|||MODY, type 3, 600496 (3)|||5(Tcf1)|| 12.206|10|15|91|12q24.2-q24.3|TRA1|P|Tumor rejection antigen-1 (gp96)||191175|REa, A||||||10(Tra1)|| 12.207|9|15|93|12q24.2-q24.31|NOS1|C|Nitric oxide synthase 1, neuronal||163731|REa, A||||||5(Nos1)|| 12.208|3|18|95|12q24.2-q24.3|RFC5|P|Replication factor C (activator 1) 5 (36.5kD)||600407|Psh, A|||||||| 12.209|9|29|96|12q24.3|NHP2L1|P|Non-histone chromosome protein 2 (S. cerevisiae)-like 1||601304|A|||||||| 12.210|4|11|94|12q24.3|POLE|P|Polymerase (DNA directed), epsilon||174762|REa, A|||||||| 12.211|2|9|92|12q24.3|UBC|P|Ubiquitin C||191340|REa, A|||||||| 12.212|3|17|94|12q24.31-q24.33|RSN|P|Restin (Reed-Steinberg cell expressed intermediate filament-associated|protein)|179838|A|||||||| 12.213|6|7|91|12q24.33|ZNF26|P|Zinc finger protein-26 (KOX20)||194537|REa, A|||||||| 12.214|6|14|95|Chr.12|ERVT3, TRV3|P|Endogenous retroviral sequence, truncated 3 (band T3, 17.8kb)||190960|REa|||||||| 12.215|10|8|88|Chr.12|FRV3|P|Full-length endogenous retroviral sequence-3||136890|REa|||||||| 12.216|2|9|92|Chr.12|GNAI2L, GNAI2A|C|Guanine nucleotide-binding protein (G protein), alpha-inhibiting|activity polypeptide-2-like|139180|REa, A|||||||| 12.217|10|23|87|Chr.12|GPD1|P|Glycerol-3-phosphate dehydrogenase||138420|S||||||15(Gdc1)|| 12.218|9|9|90|Chr.12|GST12|P|Glutathione S-transferase 12 (microsomal)||138330|RE, REa|pseudogene at 12q13-q14||||||| 12.219|3|29|90|Chr.12|HIVE1|P|Human immunodeficiency virus-1 expression||143055|REa|||||||| 12.220|1|25|93|Chr.12|IGFBP6|P|Insulin-like growth factor-binding protein-6||146735|Psh|||||||| 12.221|11|15|94|Chr.12|KRT6B|P|Keratin-6B||148042|REa|||||||| 12.222|8|21|91|Chr.12|KRT8|P|Keratin-8||148060|Psh|||||||| 12.223|12|16|93|Chr.12|LYZ|P|Lysozyme||153450|REa|||Amyloidosis, renal, 105200 (3)||||| 12.224|7|17|91|Chr.12|MARS, MTRNS, METRS|P|Methioninyl-tRNA synthetase||156560|S|||||||| 12.225|1|12|93|Chr.12|MVK, MVLK|P|Mevalonate kinase||251170|REa|||Mevalonicaciduria (3)||||Schafer (1992)| 12.226|11|4|93|Chr.12|MYBPC1|P|Myosin-binding protein C, slow type||160794|REa|||||||| 12.227|6|5|90|Chr.12|MYF5|P|Myogenic factor-5||159990|REa, A, RE|||||||| 12.228|5|27|93|Chr.12|NKG2|P|Natural killer cell lectin NKG2||161555|REa|family of at least 3 genes on 12||||||| 12.229|6|14|89|Chr.12|NTS|P|Neurotensin||162650|REa|||||||| 12.230|7|8|89|Chr.12|OIAS|C|2',5'-oligoisoadenylate synthetase||164350|REa|||||||| 12.231|12|22|87|Chr.12|PFKX|P|Phosphofructokinase X||171880|REa, REb||||||15(Pfk4)|| 12.232|4|16|93|Chr.12|TUBAL1|P|Tubulin, alpha-like-1||191120|REa|||||||| 12.233|4|1|96|Chr.12|UNG, DGU|P|Uracil-DNA glycosylase||191525|REa|||||||| 13.1|4|26|90|13p12|RNR1|C|Ribosomal RNA-1||180450|A|||||||| 13.2|7|8|96|13q|HED, EDH|P|Ectodermal dysplasia, hidrotic||129500|Fd|||Ectodermal dysplasia, hidrotic (2)||||| 13.3|12|3|96|13q11|DFNA3|P|Deafness, autosomal dominant 3||601544|Fd|?same locus as DFNB1||Deafness, autosomal nonsyndromic sensorineural, 3 (2)||||| 13.4|11|8|95|13q11-q12|FGF9|P|Fibroblast growth factor 9 (glia-activating factor)||600921|A|||||||| 13.5|9|29|96|13q11-q12|GJB2, CX26|C|Gap junction protein, beta-2, 26kD (connexin 26)||121011|REa, A||||||14(Gjb2)|| 13.6|9|29|96|13q11-q12|GJA3, CX46|C|Gap junction protein, alpha-3, 46kD (connexin 46)||121015|REa, A||||||14(Gja3)|| 13.7|3|17|94|13q12|DFNB1|C|Deafness, autosomal recessive 1||220290|Fd|||Deafness, autosomal recessive 1 (2)||||| 13.8|1|2|91|13q12|FLT1|C|fms-related tyrosine kinase 1 (vascular endothelial growth|factor/vascular permeability factor receptor)|165070|REa, A|150kb from FLT3||||||| 13.9|1|3|91|13q12|FLT3|C|fms-related tyrosine kinase-3||136351|A, Psh, REn||||||5(Flt3)|| 13.10|10|1|95|13q12|GPR12|P|G protein-coupled receptor 12||600752|A|||||||| 13.11|9|22|96|13q12|HMG1|P|High-mobility group (nonhistone chromosomal) protein 1||163905|A||||||5(Hmg1)|| 13.12|11|7|95|13q12|LGMD2C, DMDA1, SCG3|C|Duchenne-like muscular dystrophy, autosomal recessive|(sarcoglycan, gamma-)|253700|Fd, LD, A|||Muscular dystrophy, Duchenne-like, autosomal, type 1 (3)||||| 13.13|7|11|95|13q12.1|D13S1056E, TG737|P|probe hTg737 (polycystic kidney disease, autosomal recessive, in|mouse TG737, human homolog of)|600595|A|||||||| 13.14|2|20|97|13q12.1|IPF1|P|Insulin promoter factor 1, homeodomain transcription factor||600733|Psh, A|||Pancreatic agenesis, 260370 (3)|||5(Ipf1)|| 13.15|7|13|93|13q12.1-q12.3|ATP1AL1|C|ATPase, Na+K+ transporting, alpha-1 polypeptide-like||182360|REa, Fd|||||||| 13.16|9|17|91|13q12.2-q13|MBS|L|Moebius syndrome||157900|Ch|||?Moebius syndrome (2)||||| 13.17|7|13|93|13q12.3|ATRC1|C|Amino acid transporter, cationic-1||104615|Fd, A, REa|distal to ATP1AL1|||||5(Rec1)|| 13.18|7|11|95|13q12.3|BRCA2|C|Breast cancer 2, early onset||600185|Fd|||Breast cancer 2, early onset (2); Pancreatic cancer (3)|||5(Brca2)|| 13.19|1|12|95|13q12.3|CDX3|P|Caudal type homeo box transcription factor 3||600297|A|||||||| 13.20|3|20|95|13q12.3-q13|RFC3|P|Replication factor C (activator 1) 3 (38kD)||600405|Psh, A|||||||| 13.21|12|17|95|13q12.3-q13.1|GTF3A, TFIIIA|P|General transcription factor IIIA||600860|A|||||||| 13.22|6|27|95|13q13|CSNK1A1|P|Casein kinase 1, alpha 1||600505|REc|||||||| 13.23|10|18|96|13q13|MAB21L1|P|mab-21 (C. elegans)-like 1||601280|REa, Fd, R|||||||| 13.24|7|4|95|13q13-q14.3|ENUR1|P|Enuresis, nocturnal, 1||600631|Fd|||Enuresis, nocturnal, 1 (2)||||| 13.25|10|14|93|13q14|D13S25, DBM|P|Disrupted in B-cell neoplasia||109543|D|>530kb telomeric to RB1||Leukemia, chronic lymphocytic, B-cell (2)||||| 13.26|12|4|96|13q14|RIEG2, RGS2|C|Rieger syndrome, type 2||601499|Fd, Ch|||Rieger syndrome, type 2 (2)||||| 13.27|10|23|87|13q14|XRS|L|X-ray sensitivity||194370|Ch|||||||| 13.28|3|14|96|13q14-q21|HTR2A|C|5-hydroxytryptamine (serotonin) receptor 2A||182135|REa, A, Fd||||||14(Htr2)|| 13.29|3|18|94|13q14.1|FKHR|P|Fork head (Drosophila) homolog 1 (rhabdomyosarcoma)||136533|Ch|chimeric with PAX3 in t(2;13); fused to PAX3 in RMSA||Rhabdomyosarcoma, alveolar, 268220 (3)||||| 13.30|5|27|93|13q14.1-q14.2|RB1|C|Retinoblastoma-1||180200|Ch, F, Fd|||Retinoblastoma (3); Osteosarcoma, 259500 (2); Bladder cancer,|109800 (3)||14(Rb1)|| 13.31|10|23|87|13q14.1-q14.3|LCP1|C|Lymphocyte cytosolic protein-1 (plasmin)||153430|F, D|||||||| 13.32|2|20|97|13q14.11|CPB2, CPU|C|Carboxypeptidase B2 (plasma)||212070|Psh|||||||| 13.33|10|23|87|13q14.11|ESD|C|Esterase D; S-formylglutathione hydrolase||133280|S, F, D|proximal to RB1, WND|||||14(Es10)|| 13.34|5|14|96|13q14.3-q21.1|ATP7B, WND|C|ATPase, Cu++ transporting, beta polypeptide||277900|F, Fd|||Wilson disease (3)|||8(Atp7b)|| 13.35|2|28|97|13q21.1-q22|POU4F1|P|POU domain, class 4, transcription factor 1||601632|REa|||||||| 13.36|10|15|94|13q21.1-q32|CLN5|P|Ceroid-lipofuscinosis, neuronal-5||256731|Fd|||Ceroid-lipofuscinosis, neuronal, variant late infantile form (2)||||| 13.37|1|9|95|13q22|EDNRB, HSCR2|C|Endothelin receptor type B||131244|REa, Ch, LD|?piebald lethal in mouse||Hirschsprung disease-2, 600155 (3)||||| 13.38|11|13|94|13q31-q32|TYRP2|P|Tyrosinase-related protein 2||191275|A||||||14(Tyrp2)|| 13.39|4|30|91|13q32|PCCA|C|Propionyl Coenzyme A carboxylase, alpha polypeptide||232000|REa, D, A, Fd|||Propionicacidemia, type I or pccA type (1)|||14(Pcca)|| 13.40|9|15|93|13q32-q33|TPP2|C|Tripeptidyl peptidase II||190470|REa, A||||||1(Tpp2)|| 13.41|6|5|94|13q33|ERCC5, XPG|C|Excision-repair, complementing defective, in Chinese hamster,|number 5|133530|S, A|||Xeroderma pigmentosum, group G, 278780 (3)|||1(Ercc5)|| 13.42|12|2|96|13q33|EPLG5, LERK5|P|eph-related receptor tyrosine kinase ligand 5||600527|A||||||8(Lerk5)|| 13.43|9|29|96|13q33|SLC10A2, NTCP2|P|Solute carrier family 10 (sodium/bile acid cotransporter family),|member 2|601295|REa, A|||||||| 13.44|7|11|95|13q33-q34|HPECT1|P|Hydrogen ion/peptide cotransporter, intestinal||600544|REa, A|||||||| 13.45|1|23|93|13q34|ATP4B|P|ATPase, H+, K+ transporting, beta||137217|A|||||||| 13.46|10|23|87|13q34|COL4A1|C|Collagen IV, alpha-1 polypeptide||120130|REa, A, REb, RE, Fd||||||8(Col4a1)|| 13.47|10|23|87|13q34|COL4A2|C|Collagen IV, alpha-2 polypeptide||120090|REa, A, RE, Fd||||||8(Col4a2)|| 13.48|10|23|87|13q34|F7|C|Coagulation factor VII||227500|D|||Factor VII deficiency (3)||||| 13.49|10|23|87|13q34|F10|C|Coagulation factor X||227600|D, A, REa|||Factor X deficiency (3)|||8(Cf10)|| 13.50|2|24|97|13q34|FGF14, FHF4|P|Fibroblast growth factor 14||601515|REa, H||||||14(Fhf4)|| 13.51|2|15|96|13q34|GAS6, AXLLG, AXSF|P|Growth arrest-specific 6||600441|A|||||||| 13.52|6|21|91|13q34|HHH|L|Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome||238970|D|with deficiency of factors VII and X in 3 unrelated cases;|?deletion|?HHH syndrome (2)||||| 13.53|2|9|92|13q34|LAMP1|C|Lysosome-associated membrane protein-1||153330|A, REa||||||8(Lamp1)|| 13.54|7|17|91|13q34|RAP2A|P|RAP2, member of RAS oncogene family (K-rev)||179540|A|||||||| 13.55|2|19|97|13q34|RHOK, RK, GRK1|P|Rhodopsin kinase||180381|REa, A|||Oguchi disease, 258100 (3)||||| 13.56|9|28|95|13q34|STGD2|P|Stargardt disease 2 (autosomal dominant)||153900|Fd|||Stargardt disease 2 (2)||||| 13.57|10|2|89|Chr.13|BRCD1|P|Breast cancer, ductal, suppressor-1||211410|D|evidence of 1p determinants||Breast cancer, ductal (2)||||| 13.58|10|16|92|Chr.13|CPB2|P|Carboxypeptidase B2 (plasma)||212070|Psh|||Carboxypeptidase B deficiency (1)||||| 13.59|6|14|95|Chr.13|ERVT5, TRV5|P|Endogenous retroviral sequence, truncated 5||190980|REa|||||||| 14.1|4|26|90|14p12|RNR2|C|Ribosomal RNA-2||180451|A|||||||| 14.2|3|20|95|14q|MPD1|P|Myopathy, distal 1||160500|Fd|?near MYH7 at 14q12||Myopathy, distal (2)||||| 14.3|6|14|95|14q|SPG3A|P|Spastic paraplegia-3A||182600|Fd|||Spastic paraplegia-3A (2)||||| 14.4|1|9|95|14q|YY1|P|YY1 transcription factor||600013|REa, H||||||12(Yy1)|| 14.5|12|3|91|14q11|ANG|P|Angiogenin||105850|A, REa|proximal to TCRA/TCRD|||||14(Ang)|| 14.6|8|3|95|14q11-q12|DAD1|P|Defender against cell death 1||600243|A|||Temperature-sensitive apoptosis (1)|||14(Dad1)|| 14.7|10|2|95|14q11-q12|MMP14|P|Matrix metalloproteinase 14 (membrane-inserted)||600754|A|||||||| 14.8|4|28|90|14q11-q12|TRL1|C|tRNA leucine-1||189932|REa, A, Fd|||||||| 14.9|4|28|90|14q11-q12|TRP1|C|tRNA proline-1||189930|REa, A, Fd|||||||| 14.10|4|28|90|14q11-q12|TRP2|C|tRNA proline-2||189931|REa, A, Fd|||||||| 14.11|4|28|90|14q11-q12|TRT2|C|tRNA threonine-2||189933|REa, A, Fd|||||||| 14.12|7|11|95|14q11-q24|PIGH|L|Phosphatidylinositol glycan, class H||600154|H||||||12(Pigh)|| 14.13|10|16|92|14q11.1-q11.2|D14S46E, NRL|C|DNA segment, single copy, expressed probes AS321,321B1,DD6,CS1/CS2,|CS3/CS4 (neural retina-specific gene NRL)|162080|REa, A, Fd||||||14(Nrl)|| 14.14|5|16|95|14q11.2|ADCY4|C|Adenylate cyclase 4||600292|REa||||||14(Adcy4)|| 14.15|9|22|96|14q11.2|CEBPE, CRP1|L|CCAAT/enhancer binding protein (C/EBP), epsilon||600749|H, A||||||14(Cebpe)|| 14.16|4|25|93|14q11.2|CMA1|P|Chymase-1, mast cell||118940|REa, REn|||||||| 14.17|4|10|90|14q11.2|CTLA1, CSPB|C|Cytotoxic T-lymphocyte-associated serine esterase-1 (cathepsin|G-like-1, granzyme B)|123910|A, REa, RE||||||14(Ctla1)|| 14.18|4|25|93|14q11.2|CTSG|C|Cathepsin G||116830|A, REn|||||||| 14.19|4|25|93|14q11.2|CTSGL2|C|Cathepsin G-like 2 (protein h-CCPX, granzyme H)||116831|A, REn|||||||| 14.20|1|9|95|14q11.2|ICR2, LI|P|Ichthyosis congenita II, non-erythromatous lamellar ichthyosis||242300|Fd|?mutation in TGM3||Lamellar ichthyosis, autosomal recessive (2)||||| 14.21|2|15|96|14q11.2|OXA1L|P|Oxidase (cytochrome c) assembly 1-like||601066|A|||||||| 14.22|4|25|93|14q11.2|TCRA|C|T-cell antigen receptor, alpha polypeptide||186880|H, REa, A, REn|cen--V-C--ter||Leukemia/lymphoma, T-cell (3)|||14(Tcra)|| 14.23|4|25|93|14q11.2|TCRD|C|T-cell antigen receptor, delta polypeptide||186810|RE, Ch|in midst of TCRA|||||14(Tcrd)|| 14.24|6|29|95|14q11.2|TGM1|C|Transglutaminase-1 (K polypeptide epidermal type I, protein-glutamine|gamma-glutamyltransferase)|190195|REa, A, Fd|||Ichthyosis, lamellar, autosomal recessive 242300 (3)||||| 14.25|1|12|95|14q11.2-q12|APEX|P|APEX nuclease||600205|A||||||14(Apex)|| 14.26|5|16|95|14q11.2-q13|OPMD|P|Oculopharyngeal muscular dystrophy||164300|Fd|||Oculopharyngeal muscular dystrophy (2)||||| 14.27|6|24|94|14q12|APE|C|Apurinic/apyrimidinic (abasic) endonuclease||107748|Psh, A|||||||| 14.28|12|3|96|14q12|DFNB5|P|Deafness, autosomal recessive 5||600792|Fd|||Deafness, autosomal recessive-5 (2)||||| 14.29|8|29|96|14q12-q13|DFNA9|P|Deafness, autosomal dominant-9||601369|Fd|||Deafness, autosomal dominant-9 (2)||||| 14.30|1|25|91|14q12|MYH6|C|Myosin, heavy polypeptide-6, cardiac muscle, alpha||160710|REa, RE, D, A, Fd||||||14(Myhca)|| 14.31|7|13|93|14q12|MYH7, CMH1|C|Myosin, heavy polypeptide-7, cardiac muscle, beta||160760|REa, RE, D, A|5'-B-4.5kb-A-3'||Cardiomyopathy, familial hypertrophic, 1, 192600 (3); ?Central core|disease, one form (3)|||| 14.32|5|27|93|14q12-q13|PAX9|P|Paired box homeotic gene-9||167416|REa, A|||||||| 14.33|10|15|95|14q13|FKHL1, FKH2, QIN, BF1|C|Forkhead (Drosophila)-like 1||164874|REa, A|||||||| 14.34|10|15|95|14q13|FKHL2, HBF2, BF2|P|Forkhead (Drosophila)-like 2||600779|A|clustered with FKHL1||||||| 14.35|10|4|93|14q13|NFKBI, IKBA|P|Nuclear factor of kappa light chain gene enhancer in B-cells inhibitor||164008|A|||||||| 14.36|10|15|95|14q13|NKX2A, TTF1|P|NK-2 (Drosophila) homolog A (thyroid nuclear factor)||600635|A|||Goiter, familial, due to TTF-1 defect (1)||||| 14.37|4|25|93|14q13|SSTR1|C|Somatostatin receptor-1||182451|REa|||||||| 14.38|3|29|89|14q13.1|NP|C|Nucleoside phosphorylase||164050|S, D|centromeric to TCRA||Nucleoside phosphorylase deficiency, immunodeficiency due to (3)|||14(Np1,2)|| 14.39|1|27|97|14q21|SOS2|P|Son of sevenless (Drosophila) homolog 2||601247|A||||||12(Sos2)|| 14.40|12|17|95|14q21-q22|NSP|P|Neuroendocrine-specific protein||600865|A|||||||| 14.41|11|6|94|14q21-q22|OTX2|P|Orthodenticle (Drosophila) homolog 2||600037|A, REa|||||||| 14.42|12|16|93|14q21-q22|PYGL|P|Phosphorylase, glycogen, liver||232700|REb|||Glycogen storage disease VI (1)|||12(Pygl)|| 14.43|9|14|95|14q22|CDKN3|P|Cyclin-dependent kinase inhibitor 3 (CDK2-associated dual|specificity phosphatase)|123832|A|||||||| 14.44|4|1|96|14q22|CG1|P|CG-1 antigen||600381|REa, A|||||||| 14.45|3|31|97|14q22-q23.2|SPTB|C|Spectrin, beta, erythrocytic||182870|REb, F, H, REa, A, RE|?14q23-q24.2||Elliptocytosis-3 (3); Spherocytosis-1 (3); Anemia, neonatal|hemolytic, fatal and near-fatal (3)||12(Sptb1)|| 14.46|2|15|96|14q22-q24|BRF1, ERF1|P|Butyrate response factor 1 (EGF-response factor 1)||601064|A|||||||| 14.47|1|8|97|14q22-q23|BMP4, BMP2B1|C|Bone morphogenetic protein-4||112262|H, REa, A|||?Fibrodysplasia ossificans progressiva, 135100 (1)|||14(Bmp2b1)|| 14.48|8|20|90|14q22-q24|ACTN1|P|Actinin, alpha-1||102575|REa, A|||||||| 14.49|1|9|95|14q22.1-q22.2|GCH1|P|GTP cyclohydrolase 1||600225|Psh, A|||Phenylketonuria, atypical, due to GCH1 deficiency, 233910 (1);|Dystonia, DOPA-responsive, 128230 (3)|||| 14.50|7|12|92|14q23|MAX|P|MAX protein||154950|A|interacts with MYC|||||12 (Myn)|| 14.51|6|15|95|14q23|PSMA3|P|Proteasome (prosome, macropain) subunit, alpha type, 3||600306|Fd|||||||| 14.52|10|15|94|14q23-q24|ARVD1|P|Arrhythmogenic right ventricular dysplasia-1||107970|Fd|||Arrhythmogenic right ventricular dysplasia-1 (2)||||| 14.53|11|4|93|14q23-q24|FNTB|P|Farnesyltransferase, CAAX box, beta||134636|REa, Psh, A|related FNTBL1 on 9||||||| 14.54|8|13|91|14q23-q24|ZNF46, KUP|P|Zinc finger protein-46 (KUP)||194541|A|||||||| 14.55|9|15|89|14q24|MTHFD, MTHFC|C|5,10-methylenetetrahydrofolate dehydrogenase,|5,10-methylenetetrahydrofolate cyclohydrolase|172460|S, REa, A|trifunctional protein||||||| 14.56|4|26|90|14q24|TGFB3|P|Transforming growth factor, beta-3||190230|REa, A||||||12(Tgfb3)|| 14.57|7|13|93|14q24-q31|CALM1, PHKD|C|Calmodulin 1 (phosphorylase kinase, delta)||114180|REa, Psh, A|||||||| 14.58|3|14|96|14q24-q31|PGF, PLGF|P|Placental growth factor, vascular endothelial growth factor-related|protein|601121|A||||||12(Plgf)|| 14.59|2|9|92|14q24-q31|RNS2, EDN|C|Ribonuclease-2 (eosinophil-derived neurotoxin)||131410|REa, A|||||||| 14.60|2|9|92|14q24-q31|RNS3, ECP|C|Ribonuclease-3 (eosinophil cationic protein)||131398|REa, A|||||||| 14.61|1|9|95|14q24-qter|CTAA1|L|Cataract, anterior polar, 1||115650|Ch|||?Cataract, anterior polar, I (2)||||Moross (1984); Das (1992)| 14.62|4|9|96|14q24.1|GPX2|C|Glutathione peroxidase 2 (gastrointestinal)||138319|REa, A|||||||| 14.63|10|15|94|14q24.1|HSPA2|C|Heat shock 70kD protein-2||140560|REa, A||||||12(Hspa2)|| 14.64|7|11|95|14q24.3|AD3|C|Alzheimer disease-3||104311|Fd|presenilin-1||Alzheimer disease-3 (3)||||| 14.65|10|15|94|14q24.3|DLST|C|Dihydrolipoamide S-succinyltransferase (E2 component of|2-oxo-glutarate complex)|126063|A|||||||| 14.66|6|5|92|14q24.3|FOS|C|FBJ murine osteosarcoma viral (v-fos) oncogene homolog (oncogene FOS)||164810|REa, A||||||12(Fos)|| 14.67|2|26|93|14q24.3|CHX10, HOX10|P|C. elegans ceh-10 homeo domain-containing homolog||142993|REa, A||||||12(Hox10)|| 14.68|12|17|95|14q24.3|UBCL, UBC4|P|Ubiquitin conjugating enzyme L-UBC||600012|Psh, A|||||||| 14.69|4|23|96|14q24.3-q31|IDDM11|P|Insulin-dependent diabetes mellitus 11||601208|Fd|||Insulin-dependent diabetes mellitus-11 (2)||||| 14.70|5|14|96|14q24.3-q31|MJD, SCA3|C|Machado-Joseph disease (spinocerebellar ataxia 3,|olivopontocerebellar ataxia 3, autosomal dominant)|109150|Fd|||Machado-Joseph disease (3)||||| 14.71|12|17|95|14q24.3-q31|MLK1|P|Mixed lineage kinase 1 (tyr and ser/thr specificity)||600136|REa, A|||||||| 14.72|2|24|97|14q24.3-q31.1|CERD4|P|cer-d4 (mouse) homolog||601672|A|||||||| 14.73|4|25|93|14q24.3-q32.1|GALC|C|Galactosylceraminidase||245200|REa, A, H, Fd|||Krabbe disease (3)|||12(tw)|| 14.74|9|2|96|14q31|OGR1|P|Ovarian cancer G protein-coupled receptor, 1||601404|Psh, A|||||||| 14.75|3|20|95|14q31|TSHR|C|Thyroid-stimulating hormone receptor||275200|REa, Fd, A, R|||Hypothyroidism, nongoitrous, due to TSH resistance (3); Thyroid|adenoma, hyperfunctioning (3); Graves disease, 275000 (1);|Hyperthroidism, congenital (3)|12(Tshr)|| 14.76|12|24|89|14q32|CHGA|C|Chromogranin A, parathyroid secretory protein-1||118910|REa, A||||||12(Chga)|| 14.77|4|30|91|14q32|CKB, CKBB|C|Creatine kinase, brain type||123280|S, REa, Fd|distal to PI and AACT; closely linked to AKT1 and IGH; proximal|to IGH|||||| 14.78|10|23|87|14q32|CKBE|P|Creatine kinase, ectopic expression||123270|F|linked to IGH, PI; ?same locus as CKBB||[Creatine kinase, brain type, ectopic expression of] (2)||||| 14.79|10|20|92|14q32|CRIP|L|Cystein-rich intestinal protein||123875|H|linked to IgM heavy chain in mouse|||||12(Crip)|| 14.80|11|22|94|14q32|DNECL|P|Dynein, cytoplasmic-like||600112|REa, H||||||14(Dnecl)|| 14.81|12|17|95|14q32|IFI27|P|Interferon, alpha-inducible protein 27||600009|A|||||||| 14.82|6|5|90|14q32|SIV|L|Situs inversus viscerum||270100|H|||?Situs inversus viscerum (2)|||12(iv)|| 14.83|6|5|94|14q32|USH1A, USH1|C|Usher syndrome-1A||276900|Fd|French type||Usher syndrome, type 1A (2)||||| 14.84|3|23|95|14q32.1|AACT|C|Alpha-1-antichymotrypsin||107280|REa, A, Fd, REn|220kb from PI||Alpha-1-antichymotrypsin deficiency (3); Cerebrovascular|disease, occlusive (3)|||| 14.85|4|25|93|14q32.1|CBG|C|Corticosteroid-binding globulin||122500|A, REn|||[Transcortin deficiency] (1)||||| 14.86|10|15|94|14q32.1|GSC|P|Goosecoid||138890|REa, A||||||12(Gsc)|| 14.87|4|25|93|14q32.1|PCI, PLANH3|C|Protein C inhibitor (plasminogen activator inhibitor-3)||227300|Psh, REn|||Protein C inhibitor deficiency (2)||||| 14.88|5|1|90|14q32.1|PI, AAT|C|Protease inhibitor (alpha-1-antitrypsin)||107400|F, S, A, D, EM, Fd|||Emphysema-cirrhosis (3); Hemorrhagic diathesis due to|\`antithrombin\' Pittsburgh (3); Emphysema (3)||12(Aat)|| 14.89|1|11|89|14q32.1|TCL1|C|T-cell lymphoma-1||186960|Ch, RE|||Leukemia/lymphoma, T-cell (2)||||| 14.90|2|11|96|14q32.1-q32.2|BDKRB1|P|Bradykinin receptor B1||600337|A|||||||| 14.91|2|11|96|14q32.1-q32.2|BDKRB2|C|Bradykinin receptor B2||113503|Psh, A|||||||| 14.92|4|10|90|14q32.3|AKT1|C|Murine thymoma viral (v-akt) oncogene homolog-1||164730|REa, A|proximal to IGH|||||12(Akt)|| 14.93|3|20|95|14q32.3|BST1|P|Bone marrow stromal cell antigen 1||600387|A|||||||| 14.94|6|8|89|14q32.3|ELK2|P|Oncogene ELK-2||165350|REa, A|||||||| 14.95|11|4|93|14q32.3|HSPCAL4|C|Heat shock 90kD protein, alpha-like 4||140576|REa, A|?functional||||||| 14.96|9|9|96|14q32.3|KNS2|C|Kinesin 2 (60-70kD)||600025|REa, A|||||||| 14.97|9|12|95|14q32.3|XRCC3|P|X-ray repair complementing defective repair in Chinese hamster cells 3||600675|REa, A|||||||| 14.98|9|26|96|14q32.31|WARS|C|Tryptophanyl-tRNA synthetase||191050|S, A, Fd|||||||| 14.99|10|23|87|14q32.33|IGH@|C|IMMUNOGLOBULIN HEAVY CHAIN GENE CLUSTER|||REa, A|||?Combined variable hypogammaglobulinemia (1)|||12(Igh)|| 14.100|9|15|89|14q32.33|IGD1|C|D (diversity) region of heavy chains||146910|RE, REa, A|many genes||||||| 14.101|10|23|87|14q32.33|IGHA1|C|Constant region of heavy chain of IgA1||146900|REa, A|||||||| 14.102|10|23|87|14q32.33|IGHA2|C|Constant region of heavy chain of IgA2||147000|REa, A|||||||| 14.103|4|30|91|14q32.33|IGHD|C|Constant region of heavy chain of IgD||147170|REa, A, Fd|||||||| 14.104|10|23|87|14q32.33|IGHE|C|Constant region of heavy chain of IgE||147180|REa, A|||||||| 14.105|10|23|87|14q32.33|IGHEP1|C|Constant region of heavy chain of IgEP1||147160|REa, A|IGEP2 on chr. 9; 147210||||||| 14.106|10|23|87|14q32.33|IGHG1|C|Constant region of heavy chain of IgG1||147100|REa, A|||||||| 14.107|10|23|87|14q32.33|IGHG2|C|Constant region of heavy chain of IgG2||147110|REa, A|5'-G2-17kb-G4-3'; closeness of IGG3 and IGG1 known|from Lepore-like myeloma protein|||||| 14.108|4|30|91|14q32.33|IGHG3|C|Constant region of heavy chain of IgG3||147120|REa, A, Fd|||||||| 14.109|10|23|87|14q32.33|IGHG4|C|Constant region of heavy chain of IgG4||147130|REa, A|||||||| 14.110|9|15|89|14q32.33|IGHJ|C|J (joining) region of heavy chains||147010|RE, REa, A|more than 4 genes||||||| 14.111|12|13|96|14q32.33|IGHM, MU|C|Constant region of heavy chain of IgM||147020|REa, A|||Agammaglobulinemia, 601495 (3)||||| 14.112|9|15|89|14q32.33|IGHR|L|Immunoglobulin heavy chain regulator||144120|F|||?Hyperimmunoglobulin G1 syndrome (2)||||| 14.113|10|23|87|14q32.33|IGHV@|C|Immunoglobin heavy polypeptide, variable region (many genes)||147070|REa, RE, A|~250 genes; orientation: cen-PI-D14S1-IGH-IGHV--qter; 3'|centromeric, 5' telomeric; IgM telomeric to IgG|||||| 14.114|9|26|96|Chr.14|CFL2|P|Cofilin 2 (muscle)||601443|Psh|||||||| 14.115|9|15|93|Chr.14|COX7A3|P|Cytochrome c oxidase, subunit VIIa, polypeptide-3 (liver)||123997|REa|||||||| 14.116|10|23|87|Chr.14|ESAT|P|Esterase activator||133250|S|||||||| 14.117|6|14|95|Chr.14|ERVT1, TRV1|P|Endogenous retroviral sequence, truncated 1 (band T1, 26.0kb)||190940|REa|||||||| 14.118|12|29|89|Chr.14|FPSL3|P|Farnesylpyrophosphate synthetase-3||134633|REa|||||||| 14.119|1|12|89|Chr.14|K12T|C|Temperature sensitivity complementation, K12||187310|S|||||||| 14.120|10|23|87|Chr.14|LCH|C|Lentil agglutinin-binding||151020|S|||||||| 14.121|10|23|87|Chr.14|M195|P|External membrane protein-195||133740|S|||||||| 14.122|9|10|92|Chr.14|MPS3C|L|Mucopolysaccharidosis, type IIIC||252930|Ch|?on pericentric region of 14 or 21||?Sanfilippo syndrome, type C (2)||||| 14.123|2|4|97|Chr.14|P2RY7|P|Purinergic receptor P2Y, G-protein coupled, 7||601531|REa|||||||| 14.124|6|5|94|Chr.14|PI4, KLST|P|Protease inhibitor 4 (kallistatin)||147935|REa|?in cluster with related AAT, AACT, CBG, PCI||||||| 14.125|6|11|92|Chr.14|RMCH|P|Rod monochromacy||216900|Ch|uniparental isodisomy||Rod monochromacy (2)||||Lewis (1991); Pentao (1992)| 14.126|9|7|90|Chr.14|RNS1|L|Pancreatic ribonuclease||180440|H|?close to TCRA and NP|||||14(Rib1)|| 14.127|4|10|97|Chr.14|RNS5, RNS4|P|Ribonuclease 4||601030|Psh|||||||| 14.128|7|13|92|Chr.14|RPL36A|P|Ribosomal protein L36A||180469|Psh|||||||| 14.129|4|23|96|Chr.14|SIX1|P|Sine oculis homeobox (Drosophila) homolog 1||601205|REa|||||||| 14.130|8|23|94|Chr.14|SLC10A1, NTCP1|P|Solute carrier family 10 (sodium/bile acid cotransporter family),|member 1|182396|REa|||||||| 15.1|4|26|90|15p12|RNR3|C|Ribosomal RNA-3||180452|A|||||||| 15.2|9|9|90|15q11|PWCR, PWS|C|Prader-Willi syndrome chromosome region||176270|Ch, D|same region as ANCR; imprinting||Prader-Willi syndrome (2)||||Robinson (1991); Purvis-Smith (1992)| 15.3|7|17|91|15q11-q12|IGHDY2|P|Immunoglobulin heavy chain diversity region-2||146990|A|?functional||||||| 15.4|10|23|87|15q11-q12|MIC7|P|Attached cell antigen 28.3.7||108990|S|||||||| 15.5|1|25|93|15q11-q13|AHO2|L|Albright hereditary osteodystrophy-2||103581|D|||?Albright hereditary osteodystrophy-2 (2)||||| 15.6|11|8|96|15q11-q13|IPW|P|Imprinted in Prader-Willi syndrome||601491|REc|||||||| 15.7|10|23|87|15q11-q13|ITO|L|Hypomelanosis of Ito||146150|Ch|see chr.9||?Hypomelanosis of Ito (2)||||Lungarotti (1991)| 15.8|1|25|93|15q11-q13|MANA1|C|Mannosidase, alpha A, cytoplasmic||154580|S, D|||||||| 15.9|11|13|94|15q11-q13|D15S227E, PAR1|P|Prader-Willi/Angelman region-1||600161|REn|paternally imprinted||||||| 15.10|11|13|94|15q11-q13|D15S226E, PAR5|P|Prader-Willi/Angelman syndrome-5||600162|REn|paternally imprinted||||||| 15.11|2|20|97|15q11-q13|UBE3A, ANCR|C|Ubiquitin protein ligase E3A||601623|Ch, D, REc|same location as PWS||Angelman syndrome (3)||||Clayton-Smith (1992); Kuwano (1992)| 15.12|3|27|92|15q11-q15|SGNE1|P|Secretory granule, neuroendocrine protein-1; 7B2 protein||173120|A||||||2(Sgne1)|| 15.13|10|29|91|15q11-q22|MIC12|P|Antigen identified by monoclonal antibody 30.2A8||107254|S|in myoblasts, but not myotubes||||||| 15.14|7|5|92|15q11-qter|HCVS|P|Human coronavirus sensitivity||122460|S|||||||| 15.15|3|20|95|15q11.1|SPG6|P|Spastic paraplegia 6||600363|Fd|||Spastic paraplegia-6 (2)||||| 15.16|7|13|93|15q11.2-q12|GABRB3|C|Gamma-aminobutyric acid (GABA) A receptor, beta-3||137192|A, H, D, REn||||||7(Gabrb3)|| 15.17|1|9|95|15q11.2-q12|GABRA5|C|Gamma-aminobutyric acid (GABA) A receptor, alpha-5||137142|A, REa, REb, D, REn|100kb from GABRB3|||||7(Gabra5)|| 15.18|1|9|95|15q11.2-q12|GABRG3|P|Gamma-aminobutyric acid (GABA) A receptor, gamma 3||600233|REn|cen--G3--A5--B3||||||| 15.19|11|17|94|15q11.2-q12|OCA2, P, PED, D15S12|C|Oculocutaneous albinism II (pink-eye dilution (murine) homolog)||203200|D, REa, Fd|?hypopigmentation in PWS and AS||Albinism, oculocutaneous, type II (3); Albinism, ocular, autosomal|recessive (3)||7(p)|| 15.20|12|16|93|15q12|SNRPN|P|Small nuclear ribonucleoprotein polypeptide N||182279|REa, D|||?Prader-Willi syndrome (1)|||7(Snrpn)|| 15.21|2|18|96|15q13|TJP1|P|Tight junction protein 1 (zona occludens 1)||601009|A||||||7(Tjp1)|| 15.22|1|24|93|15q13-q14|LD, FMN|C|Formin (limb deformity)||136535|REa, A, Fd, Psh||||||2(ld)|| 15.23|4|24|96|15q13-q15|ACCPN|P|Agenesis of corpus callosum and peripheral neuropathy (Andermann|syndrome)|218000|Fd, LD|||Andermann syndrome (2)||||| 15.24|10|23|87|15q13-q15|B2MR|C|Beta-2-microglobulin regulator||109710|D|||||||| 15.25|5|16|95|15q13-q22|FGF7|P|Fibroblast growth factor 7 (keratinocyte growth factor)||148180|A, H||||||2(Fgf7)|| 15.26|11|13|94|15q13-qter|MAP1A|P|Microtubule-associated protein 1A||600178|Psh|||||||| 15.27|7|11|95|15q14|ACTC|C|Actin, alpha, cardiac muscle||102540|REa, Fd, A||||||2(Actc1)|| 15.28|3|19|94|15q14|CHRNA7|C|Cholinergic receptor, nicotinic, alpha polypeptide 7||118511|A||||||7(Acra7)|| 15.29|10|23|87|15q14-q15|IVD|P|Isovaleryl Coenzyme A dehydrogenase||243500|REa|||Isovalericacidemia (3)||||| 15.30|11|4|93|15q14-q15|RYR3|C|Ryanodine receptor-3||180903|A, Psh||||||2(Ryr3)|| 15.31|3|1|94|15q14-q21|FDPSL4, FPSL4|P|Farnesyl diphosphate synthase-like 4 (farnesyl pyrophosphate|synthetase-like 4)|134634|REa, A|||||||| 15.32|10|16|92|15q14-q21|ITPKA|P|Inositol 1,4,5-trisphosphate 3-kinase A||147521|A|||||||| 15.33|1|9|95|15q15|CKMT1|C|Creatine kinase, mitochondrial||123290|REa, A||||||2(Ckmt1)|| 15.34|4|25|93|15q15|EPB42|C|Erythrocyte surface protein band 4.2||177070|A|||Spherocytosis, hereditary, Japanese type (3); ?Hermansky-Pudlak|syndrome, 203300 (1)||2(Epb4.2)|Ideguchi (1990); Bouhassira (1992)| 15.35|6|6|94|15q15|SORD|C|Sorbitol dehydrogenase||182500|S, H, A, REa, Psh|||?Cataract, congenital (2)|||2(Sdh1)|| 15.36|6|5|90|15q15|THBS1|P|Thrombospondin 1||188060|REa, A||||||2(Thbs1)|| 15.37|1|12|95|15q15-q12|MFAP1|P|Microfibrillar-associated protein 1||600215|REa, A|?mutant in Marfan-like disorders||||||| 15.38|10|23|87|15q15-q21|CHR39B|P|Cholesterol repressible protein 39B||118480|REa|||||||| 15.39|12|3|96|15q15-q21|DFNA8|P|Deafness, autosomal dominant 8||601543||||Deafness, autosomal dominant 8 (2)||||| 15.40|7|8|96|15q15-q21.1|SLC12A1, NKCC2|C|Solute carrier family 12 (sodium/potassium/chloride transporters),|member 1|600839|H, Fd, LD|||Bartter syndrome, 241200 (3)|||2(Slc12a1)|| 15.41|3|19|94|15q15.1|RECA, RAD51|C|Recombination protein A (RAD51 homolog)||179617|REa, A||||||2(Rad51)|| 15.42|11|2|95|15q15.1-q21.1|CAPN3, CANP3|C|Calpain, large polypeptide L3||114240|REb, Fd, A, REn, H|||Muscular dystrophy, limb-girdle, type 2A, 253600 (3)|||2(Canp3)|| 15.43|1|9|95|15q15.1-q21.1|LTK, TYK1|C|Leukocyte tyrosine kinase||151520|REa, Psh||||||2(Ltk)|| 15.44|6|14|95|15q15.1-q21.1|TYRO3|C|TYRO3 protein tyrosine kinase||600341|REa, Psh, REn||||||2(Tyro3)|| 15.45|3|20|95|15q21|CDAN3, CDA3|P|Congenital dyserythropoietic anemia, type III||105600|Fd|||Dyserythropoietic anemia, congenital, type III (2)||||| 15.46|5|17|95|15q21|MYH12|C|Myosin, heavy polypeptide-12 (myoxin)||160777|REa, A||||||9(d, Myh12)|| 15.47|5|17|95|15q21|TCF12, TCF4, HTF4|P|Transcription factor 12 (HTF4, helix-loop-helix transcription|factors-4)|600480|REa, A|||||||| 15.48|3|19|91|15q21-q22|ANX2, ANX2L4, LPC2D, LIP2|C|Annexin II (lipocortin I)||151740|REa, Psh|||||||| 15.49|10|23|87|15q21-q22|B2M|C|Beta-2-microglobulin||109700|S, D, H|on 15q+ in APL||Hemodialysis-related amyloidosis (1)|||2(B2m)|| 15.50|1|9|95|15q21-q22|HDC|C|Histidine decarboxylase||142704|REa, Psh, A||||||2(Hdc)|| 15.51|11|12|96|15q21-q22|MYO1C|P|Myosin IC||601479|A||||||9(Myo1e)|| 15.52|2|18|96|15q21-q22|RORA|P|RAR-related orphan receptor A||600825|A||||||9(Rora)|| 15.53|1|18|95|15q21-q23|LIPC|C|Lipase, hepatic||151670|REa, A|||Hepatic lipase deficiency (3)|||9(Hl)|| 15.54|5|18|90|15q21.1|CYP19, ARO|C|Cytochrome P450, subfamily XIX (aromatization of androgens)||107910|REa, A, H|close to CYP11 in mouse||?Gynecomastia, familial, due to increased aromatase activity (1);|Virilization, maternal and fetal, from placental aromatase deficiency|(3)|9(Cyp19)|| 15.55|2|2|96|15q21.1|FBN1, MFS1|C|Fibrillin-1||134797|A, Fd|||Marfan syndrome, 154700 (3); Shprintzen-Goldberg syndrome,|182212 (3); Ectopia lentis, ?isolated (3)||2(Fbn1)|| 15.56|1|9|95|15q21.6|GPR1|P|G protein-coupled receptor 1||600239|A|||||||| 15.57|7|17|91|15q22|PKM2, PK3|C|Pyruvate kinase-3||179050|S, D, A||||||9(Pk3)|| 15.58|5|28|91|15q22|PML, MYL|P|Promyelocytic leukemia, inducer of||102578|Ch, RE|fused with RARA in APL||Leukemia, acute promyelocytic (2)|||9(Pml)|| 15.59|12|17|95|15q22|SRP14|P|Signal recognition particle 14kD (homologous Alu RNA-binding protein)||600708|REa|||||||| 15.60|2|11|96|15q22|TLE3, ESG|C|Transducin-like enhancer of split 3, homolog of Drosophila a E(spl)||600190|REa, Psh, A|||||||| 15.61|5|17|95|15q22|TPM1, CMH3|C|Tropomyosin 1 (alpha)||191010|Fd|||Cardiomyopathy, familial hypertrophic, 3, 115196 (3)|||9(Tpm1)|| 15.62|3|1|94|15q22-q24|CYP1A1, CYP1|P|Cytochrome P450, subfamily I (aromatic compound-inducible), member 1||108330|S, REa, H|CYP2 = earlier symbol|||||9(Cyp1a1)|| 15.63|4|18|97|15q22-q25|MRG1|P|Meis1-related gene-1||601740|Psh||||||2(Mrg1)|| 15.64|6|27|94|15q22-qter|CRABP1, RBP5|P|Cellular retinoic acid-binding protein 1||180230|REa, Ch|distal to APL breakpoint|||||9(Rbp5)|| 15.65|5|18|90|15q22-qter|CYP1A2|P|Cytochrome P450, subfamily I (aromatic compound-inducible), member 2||124060|REa, H|both CYP1 genes close to MPI in rodents|||||9(Cyp1a2)|| 15.66|10|23|87|15q22-qter|MPI|C|Mannosephosphate isomerase||154550|S||||||9(Mpi1)|| 15.67|1|9|95|15q22-qter|NMB|C|Neuromedin B||162340|REa, Psh|||||||| 15.68|3|20|95|15q22.3-q23|BBS4|C|Bardet-Biedl syndrome 4||600374|Fd, LD|||Bardet-Biedl syndrome 4 (2)||||| 15.69|12|9|95|15q22.3-q23|PHAP1|P|Putative human HLA class II associated protein I||600832|A|||||||| 15.70|4|21|97|15q23-q24|CYP11A, P450SCC|C|Cytochrome P450, subfamily XIA (cholesterol side chain cleavage)||118485|REa, H, A, Fd|?15q21.1 close to CYP19||Polycystic ovary syndrome with hyperandrogenemia (2)|||9(Cyp11a)|| 15.71|7|11|91|15q23-q24|HEXA, TSD|C|Hexosaminidase A (alpha polypeptide)||272800|S, D, A|on 15q+ in APL||Tay-Sachs disease (3); GM2-gangliosidosis, juvenile, adult (3);|[Hex A pseudodeficiency] (1)||9(Hexa)|| 15.72|8|14|92|15q23-q25|CSK|P|c-src tyrosine kinase||124095|A|||||||| 15.73|6|13|93|15q23-q25|ETFA, GA2|P|Electron transfer flavoprotein, alpha polypeptide||231680|REa, A|||Glutaricaciduria, type IIA (1)|||13(Etfa)|| 15.74|4|30|91|15q23-q25|FAH|C|Fumarylacetoacetase||276700|A, REa|||Tyrosinemia, type I (3)||||| 15.75|7|5|92|15q24|CHRNA3|C|Cholinergic receptor, neuronal nicotinic, alpha polypeptide-3||118503|REa, H, A, REn||||||9(Acra3)|| 15.76|7|5|92|15q24|CHRNA5|C|Cholinergic receptor, neuronal nicotinic, alpha polypeptide-5||118505|REa, H, Fd, A||||||9(Acra5)|| 15.77|7|5|92|15q24|CHRNB4|C|Cholinergic receptor, neuronal nicotinic, beta polypeptide-4||118509|REa, H, A, REn||||||9(Acrb4)|| 15.78|1|9|94|15q24-q25|CTSH|P|Cathepsin H||116820|REa, A|||||||| 15.79|11|4|93|15q24-q25|LOXL|P|Lysyl oxidase-like||153456|A|||||||| 15.80|1|9|95|15q24-q25|NTRK3, TRKC|P|Neurotrophic tyrosine kinase, receptor, type 3||191316|Psh, A|||||||| 15.81|3|15|91|15q24-q25|THBP1|P|Thyroid hormone-binding protein, cytosolic (p58)||188555|A|||||||| 15.82|1|17|96|15q25|MANA2X|P|Manosidase, alpha-, type II, isozyme X||600988|A|||||||| 15.83|12|16|93|15q25-q26|ANPEP, PEPN, CD13|C|Alanyl (membrane) aminopeptidase (aminopeptidase N, aminopeptidase M,|microsomal aminopeptidase, CD13, p150)|151530|REa, A|||||||| 15.84|3|15|91|15q25-q26|IGF1R|C|Insulin-like growth factor-1 receptor||147370|REa, A, D|?relation to FES|||||7(Igf1r)|| 15.85|6|29|92|15q25-q26|PACE, FUR, PCSK3|C|Paired basic amino acid cleaving enzyme (furin membrane-associated|receptor protein)|136950|RE|less than 1.1kb 5' to FES|||||7(Fur, Pcsk3)|| 15.86|4|9|96|15q25.1-q25.2|IDH3A|P|Isocitrate dehydrogenase 3 (NAD+) alpha||601149|A|||||||| 15.87|12|4|90|15q26|CHRM5|P|Cholinergic receptor, muscarinic-5||118496|A, REa|||||||| 15.88|3|26|95|15q26|IDDM3|C|Insulin-dependent diabetes mellitus 3||600318|Fd|||Diabetes mellitus, insulin-dependent, 3 (2)||||| 15.89|11|8|95|15q26|MEF2A2, MEF2A|C|MADS box transcription enhancer factor 2, polypeptide A (myocyte|enhancer factor 2A)|600660|A, REa||||||7(Mef2a)|| 15.90|4|25|93|15q26|PACE4, PCSK6|C|Paired basic amino acid cleaving system-4||167405|REa, A||||||7(Pcsk6)|| 15.91|12|3|91|15q26|RLBP1|P|Retinaldehyde-binding protein-1 (cellular)||180090|REa, A||||||7(Rlbp1)|| 15.92|7|13|93|15q26.1|AGC1, CSPG1, MSK16|C|Aggrecan-1 (chondroitin sulfate proteoglycan-1, large aggregating|proteoglycan, antigen identifies by monoclonal antibody A0122)|155760|S, A||||||7(Agc1)|| 15.93|1|24|93|15q26.1|BLM, BS|C|Bloom syndrome||210900|M, LD|||Bloom syndrome (2)||||Ellis (1992)| 15.94|7|13|93|15q26.1|FES|C|Oncogene FES, feline sarcoma virus||190030|S, A||||||7(Fes)|| 15.95|4|9|96|15q26.1|IDH2|C|Isocitrate dehydrogenase, mitochondrial||147650|S, A||||||7(Idh2)|| 15.96|12|13|95|15q26.1-q26.2|TFCOUP2, ARP1|P|Transcription factor COUP 2 (chicken ovalbumin upstream promoter 2)||107773|REa, A||||||7(Tcfcoup2)|| 15.97|2|22|92|Chr.15|CDC2L2|P|Cell division cycle 2-like 2||116951|REa|||||||| 15.98|4|26|90|Chr.15|COL1AR|P|Collagen I, alpha, receptor||120340|S|||||||| 15.99|12|13|95|Chr.15|EEF1B1|P|Eukaryotic translation elongation factor 1, beta 1||130591|REa|||||||| 15.100|10|23|87|Chr.15|GANC|P|Neutral alpha-glucosidase C||104180|S|||||||| 15.101|1|24|93|Chr.15|GALK2, GK2|P|Galactokinase-2||137028|Psh|||||||| 15.102|12|4|90|Chr.15|IREB2|P|Iron-responsive element-binding protein-2||147582|REa|||||||| 16.1|1|12|89|16pter-p13.3|HBAC@|C|ALPHA GLOBIN GENE CLUSTER|||HS, RE, A, D|order: cen-APKD-HBZ1--HBA1-3'HVR-pter; distal to PGP||||||| 16.2|1|12|89|16pter-p13.3|HBA1|C|Hemoglobin alpha-1||141800|HS|1, 2, or 3 loci;|5'-zeta-pseudozeta-pseudoalpha-alpha-2-alpha-1-3'|Thalassemias, alpha- (3); Methemoglobinemias, alpha- (3);|Erythremias, alpha- (3); Heinz body anemias, alpha- (3)||11(Hba)|| 16.3|9|15|89|16pter-p13.3|HBA2|C|Hemoglobin alpha-2||141850|HS||||||11(Hba)|| 16.4|1|12|89|16pter-p13.3|HBQ1|P|Hemoglobin theta-1||142240|RE|||||||| 16.5|7|17|91|16pter-p13.3|HBZ|P|Hemoglobin, zeta||142310|RE|||||||| 16.6|6|11|93|16pter-p13.3|HBHR, ATR1|C|Alpha-thalassemia/mental retardation syndrome, type 1||141750|Fd, RE|||Alpha-thalassemia/mental retardation syndrome, type 1 (1)||||Weatherall (1981); Wilkie (1990b)| 16.7|10|15|95|16pter-p13.3|MPG, MDG|P|N-methylpurine DNA glycosylase||156565|REa, REn|75kb upstream of HBZ|||||11(Mpg)|| 16.8|1|23|97|16pter-p11|PDES1B, PDE1B|P|Phosphodiesterase-1B||171891|S|||||||| 16.9|1|26|97|16peter-p11|ZNF75A|P|Zinc-finger protein 75A||601473|REa|||||||| 16.10|9|22|96|16p13.31-p13.12|PKD1|C|Polycystic kidney disease-1 (autosomal dominant)||601313|F, Fd, REn|||Polycystic kidney disease-1, 173900 (3)|||17(Pkd1)|| 16.11|11|8|95|16p13.31-p13.12|ERV1|P|ERV1, yeast, human homolog of||600924|REn|||||||| 16.12|1|7|93|16p13.3|CATM|P|Cataract, congenital, with microphthalmia||156850|Ch|proximal to HBA1||Cataract, congenital, with microphthalmia (2)||||Yokoyama (1992)| 16.13|1|12|95|16p13.3|CCNF|P|Cyclin F||600227|REn||||||17(Ccnf)|| 16.14|12|4|95|16p13.3|CREBBP, CBP, RSTS|C|CREB binding protein||600140|A, Ch|||Rubenstein-Taybi syndrome, 180849 (3)||||| 16.15|1|17|95|16p13.3|DCI|P|Dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A|isomerase)|600305|Psh, A|||||||| 16.16|11|9|95|16p13.3|CGTHBA|P|Conserved gene telomeric to alpha globin cluster||600928|REn|||||||| 16.17|1|1|96|16p13.3|DNL1|P|DNase I, lysosomal||125505|Psh|||||||| 16.18|5|23|94|16p13.3|HMOX2|P|Heme oxygenase (decycling) 2||141251|Psh, A|||||||| 16.19|6|14|95|16p13.13|IMPDHL1|P|IMP (inosine monophosphate) dehydrogenase-like 1||146692|Psh, A|||||||| 16.20|10|12|90|16p13.3|PGP|C|Phosphoglycolate phosphatase||172280|S, F, Fd|no recombination with PKD1||||||| 16.21|1|12|95|16p13.3|PKDTS|P|Polycystic kidney disease, infantile severe, with tuberous sclerosis||600273|RE|||Polycystic kidney disease, infantile severe, with tuberous sclerosis|(3)|||| 16.22|8|22|90|16p13.3|PRM1|C|Sperm protamine P1||182880|REa, A|16q21 = conflicting localization|||||16(Prm1)|| 16.23|8|22|90|16p13.3|PRM2|C|Sperm protamine P2||182890|H, RE|in same 4.8kb fragment as PRM2|||||16(Prm2)|| 16.24|5|17|95|16p13.3|SSTR5|C|Somatostatin receptor 5||182455|REa, A|||||||| 16.25|4|25|93|16p13.3|TNP2|C|Transition protein-2 (during histone to protamine replacement)||190232|REn, A|in 13kb segment with PRM1 and PRM2|||||16(Tnp2)|| 16.26|3|19|94|16p13.3|TSC2|C|Tuberous sclerosis-2 (tuberin)||191092|Fd, Ch, D, REn|distal to PKD1||Tuberous sclerosis-2 (2)|||17(Tsc2)|Kandt (1992); Short (1992)| 16.27|2|24|97|16p13.3|UBE2I|C|Ubiquitin-conjugating enzyme E2I (homologous to yeast UBC9)||601661|A|||||||| 16.28|9|22|96|16p13.3-p13.2|CDG1|P|Carbohydrate-deficient glycoprotein syndrome||212065|Fd|some families unlinked to 16||Carbohydrate-deficient glycoprotein syndrome (2)||||| 16.29|10|15|94|16p13.3-p13.13|ERCC4|C|Excision-repair, complementing defective, in Chinese hamster,|number 4|133520|S, A|||||||| 16.30|10|28|96|16p13.2-p13.1|XPF|C|Xeroderma pigmentosum, complementation group F||278760|S, A|||Xeroderma pigmentosum, type F (3)||||| 16.31|9|22|93|16p13.13-p13.12|MYH11|C|Myosin, heavy polypeptide-11, smooth muscle||160745|REa, A, Ch|fused with CBFB by inversion in acute myelomonocytic leukemia|||||16(Myh11)|| 16.32|6|29|94|16p13.11|SAH|P|SA (rat hypertension-associated) homolog||145505|REa, A|||{?Hypertension, essential} (1)||||| 16.33|3|22|93|16p13.11-p12.3|CRYM|P|Crystallin, mu||123740|Psh|||||||| 16.34|10|15|94|16p13.11-p12.3|UMOD|P|Uromodulin (uromucoid, Tamm-Horsfall glycoprotein)||191845|REa|||||||| 16.35|1|24|93|16p13.1|BCMA|P|B-cell maturation factor||109545|Ch|||||||| 16.36|8|17|92|16p13.1|GSPT1|P|G1 to S phase transition-1||139259|REa, A|||||||| 16.37|2|11|93|16p13.1|MRP1|P|Multidrug resistance-associated protein-1||158343|A|||||||| 16.38|8|21|91|16p13.1-p12|CDR2|P|Cerebellar degeneration-related antigen-2 (62kD)||117340|REa, A|||||||| 16.39|6|20|94|16p13|GRIN2A, NMDAR2A|P|Glutamate receptor, ionotropic, N-methyl D-aspartate 2A||138253|A|||||||| 16.40|10|12|90|16p13|HAGH, GLO2|C|Hydroxyacyl glutathione hydrolase; glyoxalase II||138760|S|||[Glyoxalase II deficiency] (1)||||| 16.41|8|31|92|16p13|MEF, FMF|C|Mediterranean fever, familial||249100|Fd, LD|between D16S80 and D16S283||Familial Mediterranean fever (2)||||Kastner (1992); Pras (1992)| 16.42|4|1|96|16p13-p12|SCNN1B|C|Sodium channel, nonvoltage-gated 1, beta||600760|REa, Fd, A, REc|||Liddle syndrome, 177200 (3); Pseudohypoaldosteronism, type 1, 264350|(3)|||| 16.43|7|8|96|16p13-p12|SCNN1G, PHA1|C|Sodium channel, nonvoltage-gated 1, gamma||600761|Fd, REn, A, REc|same 400kb fragment as SCNN1B||Liddle syndrome, 177200 (3); Pseudohypoaldosteronism type 1, 264350|(3)|||| 16.44|10|15|95|16p13|TFAP4|L|Transcription factor AP-4 (activating enhancer-binding protein 4)||600743|H||||||16(Tfp4)|| 16.45|7|11|95|16p12.1|CLN3, BTS|C|Ceroid-lipofuscinosis, neuronal-3, juvenile (Batten disease)||204200|F, Fd|||Batten disease (3)|||7(Cln3)|| 16.46|6|6|91|16p12.1-p11.2|IL4R|P|Interleukin-4 receptor||147781|A, REa||||||7(Il4r)|| 16.47|4|11|94|16p12.1-p11.2|PHKG2|P|Phosphorylase kinase, gamma 2 (testis)||172471|REa|||||||| 16.48|3|1|94|16p12.1-p11.2|STP, PST|P|Sulfotransferase, phenol-preferring||171150|Psh||||||7(Stp)|| 16.49|10|8|96|16p12|ATP2A1, SERCA1|C|ATPase, Ca++ transporting, fast-twitch, 1||108730|REa, A|||Brody myopathy, 601003 (3)|||7(Atp2a1)|| 16.50|3|1|94|16p12|UQCRC2|P|Ubiquinol-cytochrome c reductase core protein II||191329|A|||||||| 16.51|2|29|96|16p11.2|CD19|P|CD19 antigen||107265|Psh, A|||||||| 16.52|4|1|96|16p11.2|PRSS8|P|Protease, serine, 8 (prostasin)||600823|A|||||||| 16.53|4|11|97|16p12-q13|IBD1|P|Inflammatory bowel disease-1 (Crohn disease)||266600|Fd|?locus on 1p||Inflammatory bowel disease-1 (2)||||| 16.54|1|6|97|16p12-q21|ACUG, BLAU|P|Arthrocutaneouveal granulomatosis (Blau syndrome)||186580|Fd|||Arthrocutaneouveal granulomatosis (2)||||| 16.55|7|13|93|16p11.2|FUS|C|Fusion gene in myxoid liposarcoma||137070|Ch, RE|fused with DDIT3 in myxoid liposarcoma, with ERG in leukemia||||||| 16.56|6|11|92|16p11.2|ITGAL, CD11A, LFA1A|C|Integrin, alpha L (antigen CD11A (p180), lymphocyte|function-associated antigen-1, alpha polypeptide)|153370|S, REa, A||||||7(Ly15)|| 16.57|6|11|92|16p11.2|ITGAM, CR3A, CD11B, MAC1A|C|Integrin, alpha M (complement component receptor-3, alpha; antigen|CD11B (p170); macrophage antigen, alpha polypeptide)|120980|RE, A|?in same restriction fragment as LFA1A||||||| 16.58|1|9|94|16p11.2|ITGAX, CD11C|P|Integrin, alpha X (antigen CD11C (p150), alpha polypeptide)||151510|REa, A|||||||| 16.59|8|13|91|16p11.2|PRKCB1, PKCB|P|Protein kinase C, beta 1 polypeptide||176970|REa, A|||||||| 16.60|3|19|94|16p11.2|SGLT2|P|Sodium-glucose transporter-2||182381|REa|||?Renal glucosuria, 253100 (1)||||| 16.61|9|28|96|16p11.2|SLC6A10, CT2|P|Solute carrier family 6 (neurotransmitter transporter, creatine),|member 10|601294|Psh, REa|||||||| 16.62|10|12|90|16p11.2|SPN, LSN, CD43|C|Sialophorin (leukosialin)||182160|REa, A||||||7(Ly48)|| 16.63|7|10|95|16p11.2|STM|C|Sulfotransferase, monoamine-preferring||600641|REa, Psh|||||||| 16.64|11|12|96|16p11.2|STX1B|P|Syntaxin 1B||601885|A|||||||| 16.65|1|1|96|16p11.2-p12|RBBP6|P|Retinoblastoma-binding protein 6||600938|A|||||||| 16.66|12|9|91|16p11|ZNF44, KOX7|P|Zinc finger protein-44 (KOX7)||194542|A|||||||| 16.67|7|12|92|16q|CAR|P|Cell adhesion regulator||116935|REa|||||||| 16.68|9|2|96|16q|WT3|P|Wilms tumor-3||194090|D|loss of heterozygosity||Wilms tumor, type 3 (2)||||| 16.69|3|21|95|16q12-q13|ADCY7|P|Adenylate cyclase 7||600385|Psh, REc|||||||| 16.70|1|8|97|16q12-q13|CYLD1, CDMT, EAC|P|Cylindromatosis 1, turban tumor syndrome||132700|Fd|behaves as tumor suppressor||Cylindromatosis (2)||||| 16.71|1|2|91|16q12-q13.1|PHKB|C|Phosphorylase kinase, beta polypeptide||172490|REa, A|||?Phosphorylase kinase deficiency of liver and muscle, 261750 (2)||||| 16.72|3|19|94|16q12.1|TBS|L|Townes-Brocks syndrome||107480|Ch|||?Townes-Brocks syndrome (2)||||| 16.73|7|13|93|16q12.2|NAT1|C|Noradrenaline transporter-1 (cocaine- and antidepressant-sensitive)||163970|REa, A, Fd|||||||| 16.74|5|23|94|16q12.2|RBL2|P|Retinoblastoma-like 2||180203|A|||||||| 16.75|9|14|95|16q13|CNCG3L|P|Cyclic nucleotide gated channel (photoreceptor), cGMP gated 3|(gamma)-like|600724|Psh, A|||||||| 16.76|8|31|92|16q13|GNAO1|P|Guanine nucleotide-binding protein (G protein), alpha-activating|activity|139311|REa, H|close to MT1 in mouse|||||8(Gnao1)|| 16.77|11|15|94|16q13|MMP2, CLG4A|C|Matrix metalloproteinase 2 (gelatinase A, 72kD type IV collagenase)||120360|REa, A, Ch|near MT1,2|||||8(Mmp2)|| 16.78|2|23|92|16q13|MT1A|C|Metallothionein 1A (functional)||156350|REa, A, REn|proximal to FRA16B|||||8(Mt1)|| 16.79|2|23|92|16q13|MT1B|C|Metallothionein 1B (functional)||156349|REn|||||||| 16.80|2|23|92|16q13|MT1E|C|Metallothionein 1E (functional)||156351|REn|||||||| 16.81|2|23|92|16q13|MT1F|C|Metallothionein 1F (functional)||156352|REn|||||||| 16.82|2|23|92|16q13|MT1G|C|Metallothionein 1G||156353|REn|||||||| 16.83|2|23|92|16q13|MT1H|C|Metallothionein 1H||156354|REn|||||||| 16.84|2|23|92|16q13|MT1I|C|Metallothionein 1I||156355|REn|||||||| 16.85|2|23|92|16q13|MT1J|C|Metallothionein 1J||156356|REn|||||||| 16.86|2|23|92|16q13|MT1K|C|Metallothionein 1K||156357|REn|||||||| 16.87|2|23|92|16q13|MT1L|C|Metallothionein 1L||156358|REn|||||||| 16.88|2|23|92|16q13|MT1X|C|Metallothionein 1X||156359|REn|||||||| 16.89|2|23|92|16q13|MT2|C|Metallothionein 2||156360|REa, A, REn||||||8(Mt2)|| 16.90|12|16|93|16q13|MT3, GIFB|C|Metallothionein 3 (growth inhibitory factor (neurotrophic))||139255|REa|||||||| 16.91|5|15|96|16q13|SLC12A3, NCCT, TSC|C|Solute carrier family 12 (sodium/potassium/chloride transporters),|member 3|600968|Fd, A|||Gitelman syndrome, 263800 (3)||||| 16.92|5|23|94|16q13-q21|POLR2C|P|Polymerase (RNA) II (DNA directed) polypeptide C (33kD)||180663|A|||||||| 16.93|3|15|92|16q13-q22.1|CES1, SES1|P|Carboxylesterase 1 (monocyte/macrophage serine esterase 1)||114835|REa|||?Monocyte carboxyesterase deficiency (1)|||8(Ces1)|| 16.94|1|9|94|16q21|BBS2|C|Bardet-Biedl syndrome 2||209900|Fd|at least 1 family not linked to 16q21||Bardet-Biedl syndrome 2 (2)||||| 16.95|4|26|90|16q21|CETP|P|Cholesteryl ester transfer protein, plasma||118470|REa, A|||[CETP deficiency] (3)||||| 16.96|4|26|90|16q21|GOT2|C|Glutamic-oxaloacetic transaminase-2, mitochondrial (EC 2.6.1.1)||138150|S, F, H|?pseudogenes on 12 and 1|||||8(Got2)|| 16.97|10|27|89|16q21-q23|CA7|P|Carbonic anhydrase VII||114770|REa, A|||||||| 16.98|2|15|96|16q22|AARS|P|Alanyl-tRNA synthetase||601065|A|||||||| 16.99|5|17|95|16q22|CBFB|C|Core-binding factor, beta subunit||121360|Ch|inv(16)(p13;q22); fuses to MYH11||Myeloid leukemia, acute, M4Eo subtype (2)||||| 16.100|8|30|95|16q22|HSD11B2, HSD11K|C|Hydroxysteroid (11-beta) dehydrogenase 2||218030|A|||Apparent mineralocorticoid excess, hypertension due to (3)||||| 16.101|4|10|97|16q22|MCDC2|P|Macular corneal dystrophy||217800|Fd|||Macular corneal dystrophy (2)||||| 16.102|9|26|96|16q22|RRAD|P|Ras-related associated with diabetes||179503|Fd, A|||||||| 16.103|2|9|92|16q22|ZNF19, KOX12|P|Zinc finger protein-19 (KOX12)||194525|A|?16q23, 19q13|||||8(Zfp1)|| 16.104|11|4|93|16q22|ZNF23, KOX16|P|Zinc finger protein-32 (KOX16)||194527|A||||||8(Zfp4)|| 16.105|10|15|95|16q22-q23|GLG1|P|Golgi apparatus protein 1||600753|A|||||||| 16.106|8|11|91|16q22-q23|MAF|P|Avian musculoaponeurotic fibrosarcoma (MAF) protooncogene||177075|A|||||||| 16.107|9|9|96|16q22-q23|SNT2B2|C|Syntrophin, beta 2 (dystrophin-associated protein A1, 59kD, basic|component 2)|601018|REa, Psh, A||||||8(Sntb2)|| 16.108|1|17|95|16q22-q24|ALDOA|C|Aldolase A, fructose-bisphosphatase||103850|REa, REb, A|||Aldolase A deficiency (3)||||| 16.109|3|8|91|16q22-qter|COX4|P|Cytochrome c oxidase, subunit IV||123864|REa|||||||| 16.110|6|28|94|16q22.1|CALB2|P|Calbindin 2, (29kD, calretinin)||114051|REa|||||||| 16.111|3|26|96|16q22.1|CDH1, UVO|C|Cadherin 1 (E-cadherin, uvomorulin)||192090|REa, D, Ch|near LCAT||Endometrial carcinoma (3); Ovarian carcinoma (3); Breast cancer,|lobular (3)||8(Um)|| 16.112|5|3|95|16q22.1|CDH3, CDHP, PCAD|P|Cadherin 3 (P-cadherin)||114021|H|in mouse tightly linked to ECAD|||||8(Pcad)|| 16.113|3|14|96|16q22.1|CDH5|L|Cadherin 5||601120|H||||||8(Cdh5)|| 16.114|9|9|90|16q22.1|CTM|C|Cataract, Marner type||116800|F|||Cataract, Marner type (2)||||| 16.115|11|4|93|16q22.1|CTRL|P|Chymotrypsin-like protease||118888|REn|||||||| 16.116|6|6|91|16q22.1|DIA4, NMOR1|C|Diaphorase-4||125860|S, REa, Ch||||||8(Nmor1)|| 16.117|10|2|95|16q22.1|E2F4|P|E2F transcription factor 4, p107/p130-binding||600659|A|||||||| 16.118|10|23|87|16q22.1|HP|C|Haptoglobin||140100|Fc|just distal to fra16q22.1|||||8(Hp)|| 16.119|1|12|89|16q22.1|HPR|C|Haptoglobin-related locus||140210|REa|2.2kb 3' to HP; multiple tandem genes in blacks||||||| 16.120|2|9|92|16q22.1|LCAT|C|Lecithin-cholesterol acyltransferase||245900|F, LD, A, REa|very close to HP||Norum disease (3); Fish-eye disease (3)|||8(Lcat)|| 16.121|11|4|93|16q22.1|MECL1|P|Proteosome subunit MECL1||176847|REn|3.1kb from LCAT||||||| 16.122|10|27|93|16q22.1|PSKH1|P|Putative serine kinase H1||177015|REn|||||||| 16.123|9|22|96|16q22.1|SCA4|P|Spinocerebellar ataxia 4||600223|Fd|||Spinocerebellar ataxia, type 4 (2)||||| 16.124|6|27|95|16q22.1|SLC9A5, NHE5|P|Solute carrier family 9 (sodium/hydrogen exchanger), isoform 5||600477|REa, A, Fd|||||||| 16.125|1|28|88|16q22.1-q22.3|TAT|C|Tyrosine aminotransferase, cytosolic||276600|REa, A, H, D|||Tyrosinemia, type II (3)|||8(Tat)|| 16.126|11|5|95|16q22.3-q23.1|ATBF1|P|AT motif-binding factor 1||104155|A|||||||| 16.127|9|28|96|16q23-q24|KARS|P|Lysyl-tRNA synthetase||601421|Psh, A|||||||| 16.128|2|22|92|16q23-q24|MOV34|P|Moloney leukemia virus-34 proviral integration homolog||157970|REa, A||||||8(Mov34)|| 16.129|6|21|91|16q23.2-q23.3|CTRB|C|Chymotrypsinogen B||118890|REa, H, D, Fd, Ch|HP-7cM-TAT-9cM-CTRB|||||8(Ctrb)|| 16.130|10|23|87|16q24|APRT|C|Adenine phosphoribosyltransferase||102600|S, D|distal to GOT2, DIA4; earlier mapped to 16q22.2-q22.3||Urolithiasis, 2,8-dihydroxyadenine (3)|||8(Aprt)|| 16.131|3|31|97|16q24|CDH13, CDHH|P|Cadherin 13, H-cadherin (heart)||601364|A|||||||| 16.132|7|9|90|16q24|CYBA|C|Cytochrome b-245, alpha polypeptide||233690|REa, A|||Chronic granulomatous disease, autosomal, due to deficiency of CYBA|(3)|||| 16.133|4|24|96|16q24|FKHL5|P|Forkhead (Drosophila)-like 5||601089|A|||||||| 16.134|1|12|95|16q24.1|PLCG2|P|Phospholipase C, gamma 2 (phosphatidylyinositol-specific)||600220|Psh||||||8(Plcg2)|| 16.135|7|11|95|16q24.1-q24.2|HSD17B2, EDH17B2|C|Hydroxysteroid (17-beta) dehydrogenase 2||109685|A, Fd|||||||| 16.136|6|14|95|16q24.1-qter|CDH14, CDH3|P|Cadherin-14 (M-cadherin)||114019|REa|tightly linked to Aprt in mouse|||||8(Cdh3)|| 16.137|2|18|96|16q24.3|CA5|C|Carbonic anhydrase V (mitochondrial)||114761|Psh, A|pseudogene on 16p|||||8(Car5)|| 16.138|1|14|97|16q24.3|D16S469E, MPE16|P|Membrane protein E16||600182|REa|||||||| 16.139|4|25|93|16q24.3|DPEP1, RDP|C|Dipeptidase-1, renal||179780|A, REa, Fd|||||||| 16.140|11|12|96|16q24.3|FACA, FA1, FA, FAA|C|Fanconi anemia, complementation group A||227650|Fd, LD|linkage heterogeneity||Fanconi anemia, type A (3)||||| 16.141|4|25|93|16q24.3|GALNS, MPS4A|C|Galactosamine (N-acetyl)-6-sulfate sulfatase||253000|A, Psh|||Mucopolysaccharidosis IVA (3)||||| 16.142|11|2|95|16q24.3|MC1R|C|Melanocortin 1 receptor (alpha melanocyte-stimulating hormone|receptor)|155555|A|||{UV-induced skin damage, vulnerability to} (3); [Red hair/fair skin]|(3)||8(Mc1r)|| 16.143|7|8|96|Chr.16|ALR|P|Augmenter of liver regeneration||601207|Psh||||||17(Aulr)|| 16.144|7|11|95|Chr.16|CDH11, CAD11|L|Cadherin 11 (OB-cadherin, osteoblast)||600023|H||||||8(cad11)|| 16.145|3|15|92|Chr.16|CSNK2A2|P|Casein kinase-2, alpha-prime polypeptide||115442|REa|||||||| 16.146|10|23|87|Chr.16|CTH|P|Cystathionase||219500|S|||[Cystathioninuria] (1)||||| 16.147|10|23|87|Chr.16|ESB3|P|Esterase-B3||133290|S||||||8(Es6)|| 16.148|10|23|87|Chr.16|GCF2|P|Growth rate controlling factor-2||139230|S|||||||| 16.149|6|14|95|Chr.16|GRLL1|P|Glucocorticoid receptor-like 1||138060|REb|||||||| 16.150|8|21|91|Chr.16|IFNR|P|Interferon production regulator||147573|REa, S|||||||| 16.151|10|23|87|Chr.16|LIPB|P|Lipase B, lysosomal acid||247980|S|||||||| 16.152|1|8|95|Chr.16|SNTL, EST25263, D16S2531E|P|Syntrophin-like||600027|REa|||||||| 16.153|10|23|87|Chr.16|NHCP1|P|Nonhistone chromosomal protein-1||118870|S|||||||| 16.154|9|29|96|Chr.16|STP2|P|Sulfotransferase, phenol-preferring 2||601292|Psh|||||||| 16.155|10|23|87|Chr.16|TK2|P|Thymidine kinase, mitochondrial||188250|S|||||||| 16.156|4|28|90|Chr.16|TRG1|P|tRNA glycine-GCC-1||189911|REa|||||||| 16.157|11|29|90|Chr.16|TPS1|P|Tryptase, alpha||191080|REa|||||||| 16.158|11|29|90|Chr.16|TPS2|P|Tryptase, beta||191081|REa|||||||| 16.159|7|17|91|Chr.16|VDI, DIPI|P|Vesicular stomatitis virus defective interfering|particle repressor|125260|S|||||||| 17.1|3|20|94|17pter-p13.1|PEDF|P|Pigment epithelium-derived factor||172860|REa, A, Psh|||||||| 17.2|3|31|94|17pter-p13|ASPA|P|Aspartoacylase (aminoacylase-2)||271900|A|||Canavan disease (3)||||| 17.3|2|2|90|17pter-p12|ENO3|C|Enolase-3, beta, muscle||131370|REa, A|||||||| 17.4|6|11|91|17pter-p12|GP1BA|P|Glycoprotein Ib, platelet, alpha polypeptide||231200|A|||Bernard-Soulier syndrome (1)||||| 17.5|3|19|92|17pter-p12|PLI|P|Alpha-2-plasmin inhibitor||262850|Psh|||Plasmin inhibitor deficiency (3)||||| 17.6|12|4|90|17pter-p12|SYB2|P|Synaptobrevin-2||185881|REa||||||11(Syb2)|| 17.7|10|12|90|17pter-p12|ZFP3|P|Zinc finger protein-3||194480|REa|probably in cluster with ZNF29 proximal to TP53|||||11(Zfp3)|| 17.8|3|26|95|17p13.3|ABR|C|Active BCR-related gene||600365|A|||||||| 17.9|1|23|96|17p13.3|BCPR|P|Breast cancer-related regulator of TP53||113721|D|||Breast cancer (1)||||| 17.10|11|4|93|17p13.3|CRK|P|Avian sarcoma virus CT10 (v-crk) oncogene homolog||164762|A|||||||| 17.11|3|3|97|17p13.3|PAFAH, LIS1|C|Platelet-activating factor acetylhydrolase, gamma subunit||601545|Ch, RE|||Lissencephaly-1 (3)||||| 17.12|9|15|89|17p13.3|MDCR, MDS|C|Miller-Dieker syndrome chromosome region||247200|Ch, D|||Miller-Dieker lissencephaly syndrome (2)|||11(Mds)|Ledbetter (1992); Oostra (1991)| 17.13|4|11|94|17p13.3|OLFR1|C|Olfactory receptor-1||164342|A, Fd, REa|cluster of 16 genes in 350kb||||||| 17.14|3|28|90|17p13.3|PFN1|P|Profilin-1||176610|REa, A, D|||||||| 17.15|11|13|94|17p13.3|PITPN|P|Phosphotidylinositol transfer protein||600174|Psh, A||||||11(Pitpn)|| 17.16|2|26|96|17p13.3|RP13|C|Retinitis pigmentosa-13||600059|Fd|||Retinitis pigmentosa-13 (2)||||| 17.17|4|11|94|17p13.3|RPA1|P|Replication protein A1 (70kD)||179835|Psh, R, A|||||||| 17.18|12|10|91|17p13.105-p13.100|TRK1|C|tRNA lysine-1||189918|REa, A|||||||| 17.19|12|10|91|17p13.105-p13.100|TRL2|C|tRNA leucine-2||189920|REa, A|||||||| 17.20|12|10|91|17p13.105-p13.100|TRQ1|C|tRNA glutamine-1||189919|REa, A|||||||| 17.21|1|25|93|17p13.1|ALOX12|C|Arachidonate 12-lipoxygenase||152391|Psh|pseudogene also on chr.17||||||| 17.22|1|24|93|17p13.1|MYH1|C|Myosin, heavy polypeptide-1, skeletal muscle, adult||160730|REa, C|cluster = 6 genes in 500kb|||||11(Myh)|| 17.23|1|24|93|17p13.1|MYH2|C|Myosin, heavy polypeptide-2, skeletal muscle, adult||160740|REa, C|17p13.105-p12||||||| 17.24|1|24|93|17p13.1|MYH3|C|Myosin, heavy polypeptide-3, skeletal muscle, embryonic||160720|REa|||||||| 17.25|10|4|93|17p13.1|MYH4|P|Myosin, heavy polypeptide-4, skeletal muscle||160742|REa, REn|||||||| 17.26|10|4|93|17p13.1|MYH8|P|Myosin, heavy polypeptide-8, skeletal muscle, perinatal||160741|REa, REn|||||||| 17.27|4|27|93|17p13.1|POLR2A, RPOL2|C|Polymerase (RNA) II (DNA directed) polypeptide A (220kD)||180660|REa, A, C||||||11(Rpo21)|| 17.28|5|10|93|17p13.1|RCV1|C|Recoverin||179618|REa, A||||||11(Rcvrn)|| 17.29|1|2|91|17p13.1|TP53|C|Tumor protein p53||191170|REa, A, D|||Colorectal cancer, 114500 (3); Li-Fraumeni syndrome (3)|||11(Trp53)|| 17.30|7|13|90|17p13.1-p12|MDB|P|Medulloblastoma||155255|D|?related to TP53||||||| 17.31|9|12|95|17p13.1-q25|NOS2B|P|Nitric oxide synthase 2B||600719|Psh|||||||| 17.32|9|12|95|17p13.1-q25|NOS2C|P|Nitric oxide synthase 2C||600720|Psh|||||||| 17.33|11|27|94|17p13|ARRB2|P|Arrestin, beta 2||107941|A|||||||| 17.34|4|23|96|17p13|CTAA2|P|Cataract, anterior polar 2||601202|Fd|||Cataract, anterior polar 2 (2)||||| 17.35|12|3|96|17p13|GUC2D, GUCSD, LCA1|C|Guanylate cyclase 2D, membrane (retina-specific)||600179|Psh, A, Fd|||Leber congenital amaurosis, type I, 204000 (3)||||| 17.36|1|24|93|17p13|MYH10|P|Myosin, heavy polypeptide-10, non-muscle||160776|REa, A|||||||| 17.37|11|28|94|17p13|SLC2A4, GLUT4|P|Solute carrier family 2 (facilitated glucose transporter), member 4||138190|REa, A|||||||| 17.38|9|29|96|17p13|SOX20|P|SRY (sex-determining region Y)-box 20||601297|A|||||||| 17.39|11|11|91|17p13-p11|ASGR1|P|Asialoglycoprotein receptor-1||108360|H, REa||||||11(Asgr1)|| 17.40|2|18|96|17p13-p12|CORD5|P|Cone rod dystrophy 5||600977|Fd|||Cone dystrophy, progressive (2)||||| 17.41|12|17|95|17p13-p12|EIF5A|P|Eukaryotic translation initiation factor 5A||600187|A|||||||| 17.42|6|21|91|17p13-p12|SHBG, ABP|P|Sex hormone-binding globulin (androgen binding protein)||182205|A||||||11(Shbg)|| 17.43|10|4|93|17p13-p12|ZNF18, KOX11|C|Zinc finger protein-18 (KOX11)||194524|REa, A|||||||| 17.44|10|12|90|17p13-p12|ZNF29|P|Zinc finger protein-29 (KOX26)||194535|REa, A|proximal to TP53|||||11(Zfp2)|| 17.45|3|26|95|17p12-p11.2|ADORA2B|P|Adenosine A2b receptor||600446|A, Psh|incorrectly put on 10||||||| 17.46|12|20|96|17p12-p11.2|LLGL|C|Lethal giant larvae (Drosophila) homolog||600966|REa, A|||||||| 17.47|1|27|97|17p12-p11.2|TOP3|P|Topoisomerase (DNA) III||601243|REa, A|||||||| 17.48|3|27|90|17p12-p11.1|UBB|P|Ubiquitin B||191339|A|||||||| 17.49|9|8|90|17p12-p11|CHRNB1, ACHRB|C|Cholinergic receptor, nicotinic, beta polypeptide-1 (muscle)||100710|H, REa, A|linked to Myh on mouse 11|||||11(Acrb)|| 17.50|3|27|95|17p11.2|ALDH3|C|Aldehyde dehydrogenase-3||100660|S, A||||||11(Ahd4)|| 17.51|3|26|95|17p11.2|FLI|P|Flightless-1 (Drosophila), human homolog of||600362|A, REa|||||||| 17.52|4|9|96|17p11.2|MFAP4|P|Microfibrillar-associated protein 4||600596|D|||||||| 17.53|3|12|96|17p11.2|PMP22, CMT1A|C|Peripheral myelin protein-22||601097|Fd, D, A|||Charcot-Marie-Tooth neuropathy 1A, 118220 (3);|Neuropathy, recurrent, with pressure palsies, 162500 (3);|Dejerine-Sottas disease, PMP22 related, 145900 (3)|11(Tr)|Lupski (1991); Timmerman (1992)| 17.54|9|22|93|17p11.2|RNU3|P|RNA, U3 small nuclear||180710|D|deleted in Smith-Magenis syndrome||||||| 17.55|7|8|96|17p11.2|SERK1|P|SAPK/ERK kinase-1||601335|Psh, A||||||11(Serk1)|| 17.56|7|13|93|17p11.2|SHMT1|C|Serine hydroxymethyltransferase (soluble)||182144|A, D|?role in Smith-Magenis syndrome||||||| 17.57|1|9|96|17p11.2|SLS, FALDH|C|Sjogren-Larsson syndrome||270200|Fd, LD|||Sjogren-Larsson syndrome (3)||||| 17.58|9|22|93|17p11.2|SMCR|C|Smith-Magenis syndrome chromosome region||182290|Ch|proximal to CMT1A||Smith-Magenis syndrome (2)||||| 17.59|1|10|96|17p11.2|SREBF1|P|Sterol regulatory element binding transcription factor 1||184756|REa, A|||||||| 17.60|7|8|96|17p11.2-p11.13|ACADVL, VLCAD|C|Acyl-Coenzyme A dehydrogenase, very long chain||201475|REa|||VLCAD deficiency (3)||||| 17.61|12|3|96|17p11.2-q12|DFNB3|P|Deafness, autosomal recessive 3||600316|Fd|||Deafness, autosomal recessive 3 (2)|||11(sh2)|| 17.62|3|19|91|17p11-qter|ACTG1|P|Actin, gamma-1||102560|REa|||||||| 17.63|1|2|91|17p|ASGR2|L|Asialoglycoprotein receptor-2||108361|H||||||11(Asgr2)|| 17.64|4|12|92|17p|ATP1B2, AMOG|P|ATPase, Na+K+ transporting, beta-2 polypeptide||182331|H, REa||||||11(Atp1b2)|| 17.65|1|26|97|17p|CACD|P|Choroidal dystrophy, central areolar||215500|Fd|||Choroidal dystrophy, central areolar (2)||||| 17.66|7|12|95|17p|CTNS|P|Cystinosis||219800|Fd|?3 allelic forms||Cystinosis (2)||||| 17.67|10|22|96|17p|RCD2|P|Retinal cone dystrophy 2||601251|Fd|||Retinal cone dsytrophy 2 (2)||||| 17.68|9|12|95|17cen-q11.2|NOS2A|C|Nitric oxide synthase 2A (inducible, hepatocytes)||163730|REa, A, Psh, H|?cluster of 3 NOS2 genes|||||11(Nos2)|| 17.69|9|15|89|17cen-q12|ALDOC|C|Aldolase C, fructose-bisphosphatase||103870|REb, REa, A|||||||| 17.70|3|27|90|17cen-q21.3|TCF2, HNF2|C|Transcription factor-2, hepatic; LF-B3; variant hepatic nuclear factor||189907|REa||||||11(Hnf2)|| 17.71|10|8|88|17cen-qter|HTLVR|P|Receptor for HTLV-1 and HTLV-2||143090|REa|||||||| 17.72|12|2|91|17q|PRS17L2, RPS17B|P|Ribosomal protein S17B-like-2||180462|REa, Ch|?pseudogene||||||| 17.73|2|21|96|17q|PSORS2, PSS1|P|Psoriasis susceptibility 2||177900|Fd|about 50% of families linked to 17q; not confirmed by some||Psoriasis susceptibility (2)||||| 17.74|3|26|95|17q11|RPL19|C|Ribosomal protein L19||180466|REa, A|||||||| 17.75|8|7|92|17q11|VTN, VNT|P|Vitronectin (serum spreading factor, somatomedin B, complement|S-protein)|193190|A|||||||| 17.76|12|3|95|17q11-q12|CCZS|P|Cataract, congenital, zonular, with sutural opacities||600881|Fd|||Cataract, congenital, zonular, with sutural opacities (2)||||| 17.77|10|4|91|17q11-q12|M17S1, ECS1, ESA1|C|Membrane component, chromosome 17, surface marker 1 (35kD protein|identified by monoclonal antibody ECS-1)|131560|Fd, REa, A, REn|~180kb centromeric to NF1|||||11(Esa1)|| 17.78|12|3|91|17q11-q21|SCYA3|C|Small inducible cytokine A3||182283|REa, REn|?17q11-q23|||||11(Mip1a)|| 17.79|7|9|90|17q11-q21|TCP228|P|T-cell specific protein p288||187010|A|?related gene at 5q31-q34||||||| 17.80|9|11|91|17q11-qter|CLTC|P|Clathrin, heavy polypeptide (Hc)||118955|REc|||||||| 17.81|5|8|96|17q11-qter|CYB561|P|Cytochrome b-561||600019|REa|||||||| 17.82|7|12|95|17q11-qter|ITGB4|P|Integrin, beta-4||147557|REa|||Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)||||| 17.83|11|5|95|17q11.1-q12|CRYBA1, CRYB1|C|Crystallin, beta A1||123610|REa, A|centromeric to NF1|||||11(Cryba1)|| 17.84|12|13|96|17q11.1-q12|SLC6A4, HTT|C|Solute carrier family 6 (neurotransmitter transporter, serotonin),|member 4|182138|REa, A, Fd|||Anxiety-related personality traits (3)|||11(Htt)|| 17.85|3|6|92|17q11.2|EVI2A, EVI2, EVDA|C|Ecotropic viral integration site 2A||158380|Fd, REa, RE|within the NF1 gene|||||11(Evi2)|| 17.86|3|4|92|17q11.2|EVI2B, EVDB|C|Ecotropic viral integration site 2B||158381|REn|within the NF1 gene||||||| 17.87|9|15|96|17q11.2|NCC1|P|New CC chemokine NCC-1||601391|REn|||||||| 17.88|9|15|96|17q11.2|NCC2|P|New CC chemokine NCC-2||601392|REn|||||||| 17.89|9|15|96|17q11.2|NCC3|P|New CC chemokine NCC-3||601393|REn|||||||| 17.90|9|15|96|17q11.2|NCC4|P|New CC chemokine NCC-4||601394|REn|||||||| 17.91|9|22|93|17q11.2|NF1, VRNF, WSS|C|Neurofibromatosis, type 1 (neurofibromatosis, von Recklinghausen|disease, Watson syndrome)|162200|Fd, EM, Ch, F|||Neurofibromatosis, type I (3); Watson syndrome, 193520 (3)||||Allanson (1991); Thakker (1992)| 17.92|8|13|91|17q11.2|OMG, OMGP|C|Oligodendrocyte-myelin glycoprotein||164345|REa, A|within the NF1 gene||||||| 17.93|9|15|96|17q11.2|SCYA3L1, LD78|P|Small inducible cytokine A3-like 1||601395|REn|||||||| 17.94|7|8|96|17q11.2|SUPT6H|P|Suppressor of Ty (S.cerevisiae) 6 homolog||601333|Psh, A||||||11(Supt6h)|| 17.95|7|18|91|17q11.2|THRA1, ERBA1|C|Oncogene ERBA1 (avian erythroblastic leukemia virus)||190120|REa, Ch||||||11(Erba)|| 17.96|4|10|97|17q11.2-q12|CLAPB1|P|Clathrin-associated/assembly/adaptor protein, large, beta 1||601025|REa|||||||| 17.97|7|8|89|17q11.2-q12|CSF3, GCSF|C|Colony-stimulating factor-3 (granulocyte)||138970|A, REa, REb, RE||||||11(Csfq)|| 17.98|6|21|91|17q11.2-q12|SCYA2, MCP1|C|Small inducible cytokine A2 (monocyte chemotactic protein, homologous|to mouse Sig-je)|158105|REa, A|||||||| 17.99|10|1|90|17q11.2-q12|SCYA5, D17S136E|P|Small inducible cytokine A5 (RANTES)||187011|REa, A|||||||| 17.100|10|15|94|17q11.2-q12|SCYA7, MCP3|P|Small inducible cytokine A7||158106|A|close to ERBB2||||||| 17.101|10|15|94|17q11.2-q24|MHS2|P|Malignant hyperthermia susceptibility 2||154275|Fd|||Malignant hyperthermia susceptibility 2 (2)||||| 17.102|4|7|97|17q12|NEUROD2|P|Neurogenic differentiation 2||601725|A||||||11(Neurod2)|| 17.103|3|4|94|17q12|RARA|C|Retinoic acid receptor, alpha polypeptide||180240|A, Ch|fused with MYL in APL||Leukemia, acute promyelocytic (1)|||11(Rara)|| 17.104|9|14|95|17q12-q21|ARF4L|P|ADP-ribosylation factor 4-like||600732|REc, Psh|||||||| 17.105|9|14|95|17q12-q21|DLG2|P|Discs, large (Drosophila) homolog 2||600723|RE|||||||| 17.106|3|3|94|17q12-q21|ERBB2, NGL, NEU, HER2|C|avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 2|(neuro/glioblastoma derived oncogene homolog)|164870|REa, A, R, Fd|||||||| 17.107|11|18|96|17q12-q21|HSD17B1, EDH17B2|C|Estradiol 17-beta-dehydrogenase-1||109684|A, REa|||||||| 17.108|3|4|94|17q12-q21|IGFBP4|P|Insulin-like growth factor-binding protein-4||146733|A|||||||| 17.109|3|3|94|17q12-q21|KRT9, EPPK|C|Keratin-9||144200|Fd, REa|||Epidermolytic palmoplantar keratoderma (3)||||| 17.110|2|12|96|17q12-q21|KRT14, EBS3, EBS4|P|Keratin-14||148066|REa|||Epidermolysis bullosa simplex, Koebner, Dowling-Meara, and|Weber-Cockayne types, 131900, 131760, 131800 (3); Epidermolysis|bullosa simplex, recessive, 601001 (3)||Bonifas (1992); Coulombe (1992)| 17.111|1|23|96|17q12-q21|KRT16|C|Keratin-16||148067|REa, Fd|probably 17q21-q22||Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200 (3);|Nonepidermolytic palmoplantar keratoderma, 600962 (3)|||| 17.112|5|14|96|17q12-q21|KRT17, PCHC1|C|Keratin-17||148069|REn, Fd|~5' to KRT16; probably 17q21-q22||Pachyonychia congenita, Jackson-Lawler type, 167210 (3)||||| 17.113|3|3|94|17q12-q21|PPY|C|Pancreatic polypeptide||167780|REa, Fd, H, REn|in rat, close to GH|||||?11(Ppy)|| 17.114|3|27|95|17q12-q21|WD1|P|Waldner blood group||112010|Fd|||||||| 17.115|9|2|96|17q12-q21|WT4|P|Wilms tumor-4||601363|Fd|||Wilms tumor, type 4 (2)||||| 17.116|1|12|95|17q12-q21.2|EBI1|P|Epstein-Barr virus induced gene 1 (lymphocyte-specific G|protein-coupled peptide receptor)|600242|REa, A|||||||| 17.117|2|16|95|17q12-q21.33|ADL, DAG2, LGMD2D|C|Adhalin||600119|Psh, A|||Muscular dystrophy, Duchenne-like, type 2 (3); Adhalinopathy,|primary (1)|||| 17.118|10|15|95|17q12-q22|CRHR1, CRHR|P|Corticotropin releasing hormone receptor 1||122561|Psh|||||||| 17.119|10|27|89|17q12-q22|PTMS|P|Parathymosin||168440|A|||||||| 17.120|4|11|94|17q12-q23.2|CDC27|P|Cell division cycle 27||116946|Psh, H|between ERBB2 and PRKCA|||||11(Cdc27)|| 17.121|5|17|90|17q21|ACAC, ACC|C|Acetyl-Coenzyme A carboxylase||200350|A|proximal to q21.33; others put at 17q12||Acetyl-CoA carboxylase deficiency (1)||||| 17.122|5|17|95|17q21|BRCA1|C|Breast cancer-1, early onset||113705|Fd|||Breast cancer-1, early onset (3); Ovarian cancer, sporadic (3)|||11(Brca1)|| 17.123|7|13|93|17q21|CNP|C|2', 3' cyclic nucleotide 3' phosphohydrolase||123830|REa, A, Psh, Fd, REb|flanked by THRA1 and NGFR|||||11(Cnp)|| 17.124|9|14|95|17q21|ETV4|P|Ets variant gene 4 (E1A enhancer-binding protein, E1AF)||600711|REa, REc, A|||||||| 17.125|1|14|97|17q21|DUSP3, VHR|C|Dual specificity phosphatase 3 (vaccinia virus phosphatase|VH1-related)|600183|REn, RE|||||||| 17.126|2|24|97|17q21|FGF11, FHF3|P|Fibroblast growth factor 11||601514|REa, REl||||||11(Fhf3)|| 17.127|3|27|95|17q21|G6PT|C|Glucose-6-phosphatase||232200|REa, REn|||Glycogen storage disease, type I (3)||||| 17.128|3|3|94|17q21|GAS, GAST|C|Gastrin||137250|REa||||||11(Gast)|| 17.129|8|11|91|17q21|GFAP|C|Glial fibrillary acidic protein||137780|REa, A||||||11(Gfap)|| 17.130|1|8|97|17q21|IFI35|C|Interferon-induced protein 35||600735|REc|||||||| 17.131|9|11|95|17q21|JUP, DP3, PDGB|P|Junction plakoglobin||173325|REa, Fd|incorrectly mapped to 7; close to BRCA1|||||11(Jup, Pkgb)|| 17.132|10|4|93|17q21|MAPT, MTBT1|C|microtubule-associated protein tau||157140|REb, A, R|see 6p21||||||| 17.133|11|13|94|17q21|MOX1|C|Mox1 (murine) homolog, diverged homeobox||600147|RE|||||||| 17.134|11|7|95|17q21|NAGLU|P|N-acetylglucosaminidase, alpha-||252920|REn|||Sanfilippo syndrome, type B (3)||||| 17.135|8|11|91|17q21|PHB|C|Prohibitin||176705|REa, A|||||||| 17.136|2|19|96|17q21|PPND|P|Parkinsonism-dementia with pallidopontonigral degeneration||168610|Fd|?allelic to DDPAC||Parkinsonism-dementia with pallidopontonigral degeneration (2)||||| 17.137|1|8|97|17q21|RHO7|P|GTP-binding protein Rho7||601555|REn|||||||| 17.138|3|27|95|17q21|VPP1|C|Vacuolar proton pump-1 (116kD subunit)||192130|REa, REn||||||11(Vpp1)|| 17.139|10|4|93|17q21|WNT3, INT4|C|Wingless-type MMTV integration site-3, human homolog||165330|REa, S, A, H||||||11(Wnt4)|| 17.140|5|25|88|17q21-q22|A12M4|C|Adenovirus-12 chromosome modification site-17||102970|V|in RNU2||||||| 17.141|6|29|94|17q21-q22|CACNLB1, CCHLB1|P|Calcium channel, L-type, beta-1 polypeptide||114207|REa|||||||| 17.142|1|12|95|17q21-q22|DDPAC|P|Disinhibition-dementia-Parkinsonism-amyotrophy complex||600274|Fd|?allelic to PPND||Disinhibition-dementia-Parkinsonism-amyotrophy complex (2)||||| 17.143|10|4|93|17q21-q22|DI|P|Diego blood group||110500|Fd|||||||| 17.144|8|22|90|17q21-q22|HOXB@, HOX2@|C|HOMEO BOX B CLUSTER|||REa, A, H, Fd, RE|order: 2E, 2D, 2C, 2B, 2A, 2F, 2G, 2H, 2I|||||11(Hox2)|| 17.145|1|20|95|17q21-q22|HOXB1, HOX2I|C|Homeo box-B1||142968|RE||||||11(Hox2.9)|| 17.146|1|20|95|17q21-q22|HOXB2, HOX2H|C|Homeo box-B2||142967|RE||||||11(Hox2.8)|| 17.147|1|20|95|17q21-q22|HOXB3, HOX2G|C|Homeo box-B3||142966|RE||||||11(Hox2.7)|| 17.148|1|20|95|17q21-q22|HOXB4, HOX2F|C|Homeo box-B4||142965|RE||||||11(Hox2.6)|| 17.149|1|20|95|17q21-q22|HOXB5, HOX2A|C|Homeo box-B5||142960|REa, A, H, Fd, RE||||||11(Hox2.2)|| 17.150|1|20|95|17q21-q22|HOXB6, HOX2B|C|Homeo box-B6||142961|RE||||||11(Hox2.2)|| 17.151|1|20|95|17q21-q22|HOXB7, HOX2C|C|Homeo box-B7||142962|RE||||||11(Hox2.3)|| 17.152|1|20|95|17q21-q22|HOXB8, HOX2D|C|Homeo box-B8||142963|RE||||||11(Hox2.4)|| 17.153|1|20|95|17q21-q22|HOXB9, HOX2E|C|Homeo box-B9||142964|RE||||||11(Hox2.5)|| 17.154|9|12|92|17q21-q22|KRT10|C|Keratin-10||148080|REa, A, REn|in cluster of class I keratins||Epidermolytic hyperkeratosis, 113800 (3)||||Cheng (1992)| 17.155|1|5|96|17q21-q22|KRT13|P|Keratin-13||148065|Psh, A, REn|in same PFGE fragment as KRT10, KRT15||White sponge nevus (3)||||| 17.156|10|4|91|17q21-q22|KRT15|C|Keratin-15, basic or beta-||148030|H, REa, A, REn|tightly linked to Hox-2 in mouse|||||11(Krt1)|| 17.157|6|6|89|17q21-q22|NGFR|C|Nerve growth factor receptor||162010|REa, A, S, Fd, C|distal to APL breakpoint, q21; < 0.5mb from HOX2|||||11(Ngfr)|| 17.158|10|21|92|17q21-q22|PENT, PNMT|C|Phenylethanolamine N-methyltransferase||171190|REa, Fd|||?Hypertension, essential, 145500 (1)||||| 17.159|11|28|88|17q21-q22|RNU2|C|RNA, U2 small nuclear||180690|REa, A, C|||||||| 17.160|10|15|95|17q21-q22|SHCL1|P|SHC (Src homology 2 domain-containing) transforming protein-like 1||600739|A|||||||| 17.161|11|28|94|17q21-q22|SLC4A1, AE1, EPB3|C|Solute carrier family 4, anion exchanger, member 1 (erythrocyte|membrane protein band 3, Diego blood group)|109270|REa, RE, Fd, A|||[Acanthocytosis, one form] (3); [Elliptocytosis, Malaysian-Melanesian|type] (3); Spherocytosis, hereditary (3)|||| 17.162|7|12|95|17q21-q22|SYM1|P|Symphalangism 1 (proximal)||185800|Fd|||Symphalangism, proximal (2)||||| 17.163|6|11|92|17q21-q22|TOP2A, TOP2|C|Topoisomerase (DNA) II, alpha (170kD)||126430|REa, A||||||11(Top2a)|| 17.164|3|19|93|17q21-q23|SCYA4, ACT2|C|Small inducible cytokine A4 (homologous to mouse Mip-1b)||182284|REa, A, REn|?17q11-q23|||||(Mip1b)|| 17.165|12|10|95|17q21-q24|MKS, MES|P|Meckel syndrome||249000|Fd|||Meckel syndrome (2)||||| 17.166|6|28|94|17q21.1|ACLY|C|ATP citrate lyase||108728|H, REa, R||||||?11(Atpcl)|| 17.167|8|23|94|17q21.1|M17S2, CA125|C|Membrane component, chromosome 17, surface marker 2 (ovarian|carcinoma antigen CA125)|166945|A, REn|||||||| 17.168|1|12|95|17q21.1-q21.3|GPR2|P|G protein-coupled receptor 2||600240|A|||||||| 17.169|5|17|95|17q21.3|NFE2L1, NRF1|C|Nuclear factor (erythroid-derived 2)-like 1||163260|A||||||11(Nfe2l1)|| 17.170|5|27|93|17q21.3|NME1, NM23|C|Non-metastatic cells 1, protein (NM23A) expressed in||156490|A, Fd, REa|||||||| 17.171|5|27|93|17q21.3|NME2|C|Non-metastatic cells 2, protein (NM23) expressed in||156491|REa, A, REn|||||||| 17.172|5|17|95|17q21.3-q22|DLX3|P|Distal-less homeo box 3||600525|REa, A|||||||| 17.173|3|20|94|17q21.3-q22|GIP|C|Gastric inhibitory polypeptide||137240|REa, A|||||||| 17.174|12|9|95|17q21.3-q22|SFRS1|P|Splicing factor, arginine/serine-rich 1 (splicing factor 2, alternate|splicing factor)|600812|REa, A||||||11(Sfrs1)|| 17.175|1|7|93|17q21.31-q22.05|COL1A1|C|Collagen I, alpha-1 polypeptide||120150|C, M, A, REa|?proximal to GH1||Osteogenesis imperfecta, 4 clinical forms, 166200, 166210, 259420,|166220 (3); Ehlers-Danlos syndrome, type VIIA1, 130060 (3);|Osteoporosis, idiopathic, 166710 (3)|11(Cola1)|| 17.176|1|9|94|17q21.32|ITGA2B, GP2B, CD41B|C|Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex,|antigen CD41B)|273800|A, REb, REa, RE, F, LD|3' to GP3A; BAK platelet antigen||Glanzmann thrombasthenia, type A (3); Thrombocytopenia, neonatal|alloimmune (1)|||| 17.177|3|15|92|17q21.32|ITGB3, GP3A|C|Integrin, beta-3 (platelet glycoprotein IIIa; antigen CD61)||173470|REa, REb, A, RE, F, LD|in same 260kb fragment as GP2B; PL(A) platelet antigen||Glanzmann thrombasthenia, type B (3)||||| 17.178|2|22|92|17q22|BCL5|P|B-cell CLL/lymphoma-5||151441|REa, A|||||||| 17.179|6|27|95|17q22|TCF11|P|Transcription factor 11 (basic leucine zipper type)||600115|A|||||||| 17.180|1|12|95|17q22-q23|COIl, CLN80|P|Coilin p80||600272|A|||||||| 17.181|3|22|93|17q22-q23|TNFAIP1|P|Tumor necrosis factor, alpha-induced protein-1 (endothelial)||191161|A|||||||| 17.182|2|9|92|17q22-q23.2|PRKCA, PKCA|C|Protein kinase C, alpha polypeptide||176960|REa, A, Fd|cen-COL1A1-PKCA-GH1|||||11(Pkca)|| 17.183|9|16|88|17q22-q24|GHC@|C|GROWTH HORMONE/PLACENTAL LACTOGEN GENE CLUSTER|||REa, A, C|||||||| 17.184|7|18|91|17q22-q24|CSH1, CSA, PL|C|Chorionic somatomammotropin hormone-1||150200|REa, A|||[Placental lactogen deficiency] (1)|||13(Pl1)|| 17.185|7|18|91|17q22-q24|CSH2, CSB|C|Chorionic somatomammotropin B||118820|REa, A||||||13(Pl2)|| 17.186|10|16|89|17q22-q24|GH1, GHN|C|Growth hormone-1||139250|REa, A, Fd|5'-GH1-CSHP1-CSH1-GH2-CSH2-3'||Isolated growth hormone deficiency, Illig type with absent GH|and Kowarski type with bioinactive GH (3)||11(Gh)|| 17.187|9|16|88|17q22-q24|GH2, GHV|C|Growth hormone-2||139240|REa, A|||||||| 17.188|7|13|93|17q23|CA4|P|Carbonic anhydrase IV||114760|REa, A|||||||| 17.189|1|7|93|17q23|DCP1, ACE1|C|Dipeptidyl carboxypeptidase-1 (angiotensin I converting enzyme)||106180|A, H, Fd|||{Myocardial infarction, susceptibility to} (3)||||Cambien (1992); Rigat (1992)| 17.190|5|27|93|17q23|IGB, B29|P|Immunoglobulin-associated protein (B29)||147245|A|||||||| 17.191|9|15|96|17q23|PECAM1|P|Platelet/endothelial cell adhesion molecule (CD31 antigen)||173445|Psh, A||||||6(Pecam1)|| 17.192|2|19|97|17q23|TBX2|C|T-box 2||600747|A, H||||||11(Tbx2)|| 17.193|12|8|94|17q23-q24|PRKAR1A, TSE1|C|Protein kinase, cAMP-dependent, regulatory, type I, alpha||188830|S, M, REa, RE||||||11(Tse1)|| 17.194|3|4|96|17q23-q25|DDX5, HLR1, G17P1|C|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)||180630|REa, REn|near BRCA1||||||| 17.195|10|4|91|17q23-q25|ICAM2|P|Intercellular adhesion molecule-2||146630|REa, C|||||||| 17.196|8|23|90|17q23-q25|UMPH2|C|Uridine 5'-monophosphate phosphohydrolase-2|(EC 3.3.3.5)|191720|REa||||||11(Umph2)|| 17.197|9|13|92|17q23-qter|APOH|C|Apolipoprotein H (beta-2-glycoprotein I)||138700|Fd, REa|||[Apolipoprotein H deficiency] (3)|||11(Apoh)|| 17.198|10|23|87|17q23-qter|PEPE|C|Peptidase E||170200|S|||||||| 17.199|1|12|95|17q23-qter|TOC, TEC|C|Tylosis with esophageal cancer||148500|Fd|distal to type I keratin cluster||Tylosis with esophageal cancer (2)||||| 17.200|10|15|95|17q23.1|MPO|C|Myeloperoxidase||254600|REa, A, F, Ch, C, REc|translocated in t(15;17)(q22;q11.2)||Myeloperoxidase deficiency (3)|||11(Mpo)|| 17.201|3|23|95|17q23.1|ZNF147, EFP|C|Zinc finger protein-147||600453|A, REc|300kb from MPO|||||11(Efp)|| 17.202|1|7|93|17q23.1-q25.3|SCN4A, HYPP, NAC1A|C|Sodium channel, voltage-gated, type 4, alpha polypeptide||170500|REa, Fd|21.5kb from GH1||Hyperkalemic periodic paralysis (3); Paramyotonia congenita, 168300|(3); Myotonia congenita, atypical acetazolamide-responsive (3)|||McClatchey (1992a,b); Ptacek (1992)| 17.203|11|4|93|17q24|CACNLG|C|Calcium channel, L type, gamma polypeptide||114209|A|||||||| 17.204|5|3|95|17q24|CCA1|P|Cataract, congenital, cerulean type||115660|Fd|||Cataract, congenital, cerulean type (2)||||| 17.205|7|4|95|17q24|GALK1|C|Galactokinase-1||230200|S, Ch, R, C, A|||Galactokinase deficiency with cataracts (3)|||11(Glk)|| 17.206|4|25|93|17q24|SSTR2|C|Somatostatin receptor-2||182452|REa|||||||| 17.207|10|27|92|17q24-q25|FDXR, ADXR|C|Ferredoxin reductase (adrenodoxin reductase)||103270|REa, A|||||||| 17.208|11|13|94|17q24-q25|GRB2|C|Growth factor receptor-bound protein 2||600180|A, REa||||||11(Grb2)|| 17.209|10|22|96|17q24-q25|PRPSAP1|P|Phosphoribosyl pyrophosphate synthetase-associated protein 1||601249|Psh, A|||||||| 17.210|2|24|97|17q24-q25|PSMC5, TRIP1|P|Proteasome (prosome, macropain) 26S subunit, ATPase, 5||601681|Psh, A|||||||| 17.211|11|12|96|17q24.3-q25.1|SOX9, CMD1, SRA1|C|SRY (sex-determining region Y)-box 9||211970|Ch|||Campomelic dysplasia with autosomal sex reversal (3)|||11(Ts, Sox9)|Young (1992)| 17.212|9|28|96|17q25|AANAT, SNAT|P|Arylalkylamine N-acetyltransferase||600950|Psh, A|||||||| 17.213|10|15|94|17q25|ACOX|C|Acyl-Coenzyme A oxidase||264470|A, Psh|||Adrenoleukodystrophy, pseudoneonatal (2)||||| 17.214|10|22|95|17q25|CSNK1D|C|Casein kinase 1, delta||600864|A, Psh|||||||| 17.215|7|13|93|17q25|D17S811E, SEC7|P|Secretory protein SEC7, human homolog of||182115|Psh, A|||||||| 17.216|1|21|97|17q25|EVPL|P|Envoplakin||601590|REa, A|||||||| 17.217|1|12|95|17q25|FASN|P|Fatty acid synthase||600212|A|||||||| 17.218|4|11|94|17q25|GCGR|P|Glucagon receptor||138033|A, Fd|||||||| 17.219|6|20|94|17q25|GRIN2C, NMDAR2C|P|Glutamate receptor, ionotropic, N-methyl D-aspartate 2C||138254|A|||||||| 17.220|2|16|96|17q25|H3F3B|P|H3 histone, family 3B (H3.3B)||601058|A|||||||| 17.221|7|12|92|17q25|ILF|P|Interleukin enhancer-binding factor||147685|REa, A|||||||| 17.222|7|12|95|17q25|LGALS3BP|P|Lectin, galactoside-binding, soluble, 3 binding protein (galectin 6|binding protein)|600626|A|||||||| 17.223|8|21|91|17q25|P4HB, PROHB|C|Procollagen-proline, 2-oxoglutarate-4-dioxygenase, beta polypeptide;|thyroid hormone-binding protein p55|176790|S, REa, A, C|||||||| 17.224|1|23|97|17q25|PDE6G, PDEG|C|Phosphodiesterase 6G, cGMP-specific, rod, gamma||180073|REa, A, Fd||||||11(Pdeg)|| 17.225|10|15|95|17q25|RP17|P|Retinitis pigmentosa-17||600852|Fd|||Retinitis pigmentosa-17 (2)||||| 17.226|5|26|94|17q25|RSS|P|Russell-Silver syndrome||180860|Ch|||Russell-Silver syndrome (2)||||Ramirez-Duenas (1992)| 17.227|9|22|93|17q25|TIMP2|P|Tissue inhibitor of metalloproteinase-2||188825|H, REa, A||||||11(Timp2)|| 17.228|1|6|97|17q25.1-q25.2|SEC14L|P|SEC14 (S. cerevisiae)-like||601504|A|||||||| 17.229|1|2|91|17q25.2-q25.3|CD7|C|CD7 antigen (p41)||186820|S, A|||||||| 17.230|3|8|96|17q25.2-q25.3|GAA|C|Glucosidase, acid alpha-||232300|S, A, D, C|distal to TK1||Glycogen storage disease, type II (3)||||| 17.231|3|8|96|17q25.2-q25.3|TK1|C|Thymidine kinase-1||188300|S, Ch, R, C, Fd, A||||||11(Tk1)|| 17.232|9|12|96|17q25.3|MPS3A, SFMD|P|Mucopolysaccharidosis IIIA (sulfaminidase)||252900|A|||Sanfilippo syndrome, type A (3)||||| 17.233|3|4|94|Chr.17|CHRNE|P|Cholinergic receptor, nicotinic, epsilon polypeptide||100725|Psh|?near CHRNB1 on 17p||||||| 17.234|4|10|90|Chr.17|G6PDL|P|Glucose-6-phosphate dehydrogenase-like||138110|REa, REb|||||||| 17.235|1|24|93|Chr.17|GRN|P|Granulin||138945|REa|||||||| 17.236|6|5|90|Chr.17|KRT19|P|Keratin-19||148020|REa|probably 17q21-q22||||||| 17.237|1|1|96|Chr.17|LIG3|P|Ligase III, DNA, ATP-dependent||600940|Psh|||||||| 17.238|4|10|90|Chr.17|MYL4|C|Myosin, light polypeptide-4, alkali; atrial, embryonic||160770|REa||||||11(Myla)|| 17.239|7|13|93|Chr.17|PYCR1|P|Pyroline-5-carboxylate reductase-1||179035|REa|||||||| 17.240|1|3|91|Chr.17|SCYA1|P|Small inducible cytokine A1||182281|REa|||||||| 17.241|9|28|96|Chr.17|SCYA11|P|Small inducible cytokine A11 (eotaxin)||601156|REa|||||||| 17.242|12|9|95|Chr.17|SFRS2|L|Splicing factor, arginine/serine-rich 2||600813|H||||||11(Sfrs2)|| 18.1|6|14|94|18pter-p11.21|ERV1|C|Oncogene ERV1; endogenous retrovirus-1||131150|REa, A|||||||| 18.2|1|28|88|18p11.32|MCL|L|Multiple hereditary cutaneous leiomyomata||150800|Ch|||?Leiomyomata, multiple hereditary cutaneous (2)||||| 18.3|10|20|92|18p11.32|TYMS, TS, TMS|C|Thymidylate synthase||188350|S, A|<50 kb from YES1||||||| 18.4|6|1|94|18p11.31|LAMA1|P|Laminin, alpha 1||150320|A||||||17(Lama)|| 18.5|10|22|95|18p11.31-p11.2|NDUFV2|C|NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD)||600532|REa, A|pseudogene on 19q13.3-qter||||||| 18.6|4|9|96|18p11.3|HPE4|P|Holoprosencephaly-4||142946|Ch, F|||Holoprosencephaly-4 (2)||||| 18.7|4|25|93|18p11.3|YES1|C|Oncogene YES-1||164880|REa, REn, A|<50 kb from TYMS||||||| 18.8|7|13|93|18p11.3-p11.2|PTPN2, PTPT|C|Protein tyrosine phosphatase, non-receptor type, 2||176887|REc, A||||||18(Ptpt)|| 18.9|3|26|96|18p11.2|EIF4A2|P|Eukaryotic translation initiation factor 4A, isoform 2||601102|A|||||||| 18.10|10|28|93|18p11.2|MC2R|C|Melanocortin-2 receptor (ACTH receptor)||202200|A, Psh|||Glucocorticoid deficiency, due to ACTH unresponsiveness (1)|||18(Mc2r)|| 18.11|5|17|95|18p11.2|MC5R|P|Melanocortin-5 receptor||600042|A|||||||| 18.12|11|4|93|18p11.2|PTPRM, PTPRL1, RPTPM|C|Protein tyrosine phosphatase, receptor-type, mu polypeptide||176888|REa, A|||||||| 18.13|7|13|93|18p11|ADCYAP1|P|Adenylate cyclase activating polypeptide-1 (pituitary)||102980|A|||||||| 18.14|1|4|96|18p|BPAD, MFAD1, MD1|P|Bipolar affective disorder||125480|Fd|?also 18q||Bipolar affective disorder (2)||||| 18.15|6|14|95|18q|TGFBRE, TGFR|P|Transforming growth factor, beta 1 response element||275355|S|distal 18q||||||| 18.16|7|8|96|18q11|TW|P|Twirler mouse mutation, human homolog of||601332|Psh, Fd||||||18(Tw)|| 18.17|9|16|88|18q11-q12|LCFS2|L|Lynch cancer family syndrome II||114400|F|?linked to JK||?Lynch cancer family syndrome II (2)||||| 18.18|4|24|96|18q11-q12|NPC, NPC1|C|Niemann-Pick disease, type C||257220|Ch, H, Fd, M|some families not linked to 18; type D prob. allelic||Niemann-Pick disease, type C (2); ?Niemann-Pick disease, type D,|257250 (2)||18(spm)|| 18.19|1|8|97|18q11-q12|SLC14A1, JK, UTE, UT1|C|Solute carrier family 14 (urea transporter), member 1 (Kidd blood|group)|111000|Fd, EM, A|previous suggestion of chr.7 or chr.2||||||| 18.20|2|20|97|18q11.1-q11.2|GATA6|P|GATA-binding protein 6||601656|A|||||||| 18.21|4|25|93|18q11.1-q11.2|HVBS7|P|Hepatitis B virus integration site-7||142333|A, Ch|||||||| 18.22|1|14|97|18q11.2|LAMA3|P|Laminin, alpha 3 (nicein (150kD), (kalinin (165kD), BM600 (150kD),|epilegrin)|600805|A|||Epidermolysis bullosa junctional, Herlitz type (3)||||| 18.23|11|6|94|18q11.2|NCAD|C|Cadherin, neural type||114020|REa, A||||||18(Ncad)|| 18.24|11|13|94|18q11.2|SSXT, SYT|C|Synovial sarcoma, translocated to X chromosome||600192|Ch, RE|5' SYST/3' SSRC in t(X;18)||Sarcoma, synovial (1)||||| 18.25|12|13|96|18q11.2-q12.1|AQP4, MIWC|P|Aquaporin 4||600308|A, Psh|||||||| 18.26|6|6|94|18q11.2-q12.1|TTR, PALB|C|Transthyretin (prealbumin)||176300|REa, A|||Amyloid neuropathy, familial, several allelic types (3);|[Dystransthyretinemic hyperthyroxinemia](3); Amyloidosis, senile|systemic (3); Carpal tunnel syndrome, familial (3)|18(Palb)|| 18.27|10|1|90|18q12|ZNF24|P|Zinc finger protein-24 (KOX17)||194534|REa, A|||||||| 18.28|6|29|94|18q12.1|DSC3|C|Desmocollin-3||125645|REa, Psh, H, REn||||||18(Dsc3)|| 18.29|3|27|95|18q12.1|DSC4|C|Desmocollin 4||600271|A, Psh|||||||| 18.30|1|26|97|18q12.1-q12.2|D18S892E, DRP3|P|Dystobrevin||601239|A|||||||| 18.31|5|26|94|18q12.1-q12.2|DSG1|C|Desmoglein-1||125670|REa, A, REn|pemphigus foliaceous antigen|||||18(Dsg1)|| 18.32|5|26|94|18q12.1-q12.2|DSG2|C|Desmoglein-2||125671|Psh, REn|||||||| 18.33|5|26|94|18q12.1-q12.2|DSG3|C|Desmoglein-3 (pemphigus vulgaris antigen)||169615|Psh, A, REn||||||18(Dsg3)|| 18.34|1|8|97|18q12.1-q21.1|UT2, UTR|P|Urea transporter-2||601611|A|||||||| 18.35|3|27|95|18q12.2-q12.3|MEP1B|P|Meprin A, beta||600389|REa||||||8(Mep1b)|| 18.36|10|23|87|18q21|GRP|C|Gastrin-releasing peptide||137260|REa, A|mammalian equivalent of bombesin|||||18(Grp)|| 18.37|1|21|97|18q21|MADH4, DPC4|P|MAD (mothers against decapentaplegic, Drosophila) homolog 4||600993|R|||||||| 18.38|8|29|96|18q21|JV18, SMAD2|P|MAD (drosophila) homolog JV18-1||601366|Psh|||||||| 18.39|1|21|97|18q21|MADH2|P|MAD (mothers against decapentaplegic, Drosophila) homolog 2||601366|REn|||||||| 18.40|4|25|93|18q21|SSAV1|C|Simian sarcoma-associated virus-1/Gibbon ape leukemia virus||182090|REa, A|||||||| 18.41|7|13|95|18q21-q22|BRIC|P|Benign recurrent intrahepatic cholestasis||243300|LD|?allelic to PFIC||Benign recurrent intrahepatic cholestasis (2)||||| 18.42|1|21|97|18q21-q22|PFIC1, ICPF|P|Progressive familial intrahepatic cholestasis 1 (Byler disease)||211600|Ld|?allelic to BRIC||Byler disease (2)||||| 18.43|6|11|92|18q21-qter|GNAL|L|Guanine nucleotide-binding protein, alpha-subunit, olfactory type||139312|H||||||18(Gnal)|| 18.44|2|12|96|18q21.1|DPC4, SMAD4|P|Deleted in pancreatic carcinoma 4||600993|D|||Pancreatic cancer (3)||||| 18.45|7|13|95|18q21.1-q21.3|CORD1, CRD1|P|Cone rod dystrophy 1 (autosomal dominant)||600624|Ch|||Cone-rod retinal dystrophy-1 (2)||||| 18.46|3|27|95|18q21.1-q22|FEO|P|Familial expansile osteolysis||174810|Fd|||Familial expansile osteolysis (2)||||| 18.47|1|30|91|18q21.2-q22|PLANH2, PAI2|C|Plasminogen activator inhibitor, type II (arginine-serpin)||173390|REa, A, REn|600kb telomeric to BCL2||||||| 18.48|1|30|91|18q21.3|BCL2|C|B-cell CLL/lymphoma-2||151430|Ch, RE, REn|most frequent hematologic malignancy|t(14;18)(q32;q21)|Leukemia/lymphoma, B-cell, 2 (2)|||1(Bcl2)|| 18.49|1|4|96|18q21.3|DCC|C|Deleted in colorectal carcinoma||120470|D, RE|||Colorectal cancer (3)|||18(Dcc)|Boman (1988)| 18.50|6|29|94|18q21.3|FECH, FCE|C|Ferrochelatase||177000|A, REb|||Protoporphyria, erythropoietic (3); Protoporphyria, erythropoietic,|recessive, with liver failure (3)|||| 18.51|3|23|95|18q21.3|FVT1|P|Follicular lymphoma, variant translocation 1||136440|RE|~10kb 5' to BCL2||Lymphoma/leukemia, B-cell, variant (1)||||| 18.52|5|17|95|18q21.3|PI5|P|Protease inhibitor 5 (maspin)||154790|REn, Psh|in cluster of serpins||||||| 18.53|5|17|95|18q21.3|SCCA1|C|Squamous cell carcinoma antigen 1||600517|REn, Psh, A|||||||| 18.54|5|17|95|18q21.3|SCCA2|P|Squamous cell carcinoma antigen 2||600518|REn|||||||| 18.55|12|20|96|18q21.3-q22|LMAN1|P|Lectin, mannose-binding, 1||601567|A|||||||| 18.56|10|15|94|18q21.3-q22|MC4R|C|Melanocortin-4 receptor||155541|A|||||||| 18.57|1|17|97|18q22|AQP4, MIWC|P|Aquaporin-4 [mercurial insensitive water channel]||600308|Psh, A|||||||| 18.58|10|23|87|18q22-qter|MBP|C|Myelin basic protein||159430|REa, A|defective in "shiverer," neurologic mutant in mouse|||||18(Mbp, shi)|| 18.59|5|29|91|18q22.1|GTS|L|Gilles de la Tourette syndrome||137580|Ch|t(7;18)(q22;q22.1); ?3p21-p14 by linkage||?Tourette syndrome (2)||||| 18.60|3|22|95|18q23|CBLN2|L|Cerebellin 2 precursor||600433|H||||||18(Cbln1)|| 18.61|3|20|94|18q23|CYB5|C|Cytochrome b5||250790|Psh, REa, A|pseudogenes on X, 14q, 20p||Methemoglobinemia due to cytochrome b5 deficiency (3)||||Hegesh (1991); Shephard (1991)| 18.62|2|18|96|18q23|GALNR|P|Galanin receptor||600377|A|||||||| 18.63|5|17|95|18q23|NFATC1|P|Nuclear factor of activated T-cells, cytoplasmic-1||600489|REa, R||||||18(Nfatc)|| 18.64|10|23|87|18q23|PEPA|C|Peptidase A||169800|S, D||||||18(Pep1)|| 18.65|3|4|94|Chr.18|DSC1|P|Desmocollin 1||125643|REa|||||||| 18.66|10|16|89|Chr.18|NARS, ASNRS|P|Asparaginyl-tRNA synthetase||108410|REa, S|||||||| 19.1|10|23|87|19pter-p13.2|OK|P|Blood group OK||111380|S|||||||| 19.2|10|23|87|19pter-q13|CXB3S|P|Coxsackie virus B3 sensitivity||120050|S|||||||| 19.3|11|10|94|19pter-q12|EEF2, EF2|C|Eukaryotic translation elongation factor 2||130610|S|||||||| 19.4|10|26|92|19p13.3|AZU1, CAP37|P|Azurocidin-1 (cationic antimicrobial protein-37)||162815|A, REn|5\(rm-AZU1-8kb-PR3-3kb-ELAN-3'||||||| 19.5|6|20|94|19p13.3|BSG|P|Basigin||109480|A||||||10(Bsg)|| 19.6|3|8|91|19p13.3|CAPS|P|Calcyphosine||114212|A|||||||| 19.7|6|14|94|19p13.3|CDC34|P|Cell division cycle 34||116948|A|||||||| 19.8|1|26|97|19p13.3|CLAC|P|Cerebellar ataxia, Cayman type||601238|Fd|||Cerebellar ataxia, Cayman type (2)||||| 19.9|6|14|95|19p13.3|ELA2|P|Elastase-2, neutrophil||130130|A|||||||| 19.10|5|17|95|19p13.3|EMR1|P|egf-like module containing, mucin-like, hormone receptor-like|sequence 1|600493|REa, A|||||||| 19.11|4|25|93|19p13.3|FCER2, FCE2, CD23|C|Fc fragment of IgE, low affinity II, receptor for (CD23A)||151445|REa, A|||||||| 19.12|5|17|96|19p13.3|FUT3, LE|C|Fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis|blood group included)|111100|F, Psh, REn, Fd|cen-FUT5-23kb-FUT3-14kb-FUT6-ter||||||| 19.13|5|17|95|19p13.3|FUT5|P|Fucosyltransferase 5 (alpha (1,3) fucosyltransferase)||136835|A, REn|cen-FUT5-FUT3-FUT6-ter||||||| 19.14|1|4|95|19p13.3|FUT6|P|Fucosyltransferase 6 (alpha (1,3) fucosyltransferase)||136836|Psh, REn|in cluster with FUT3, FUT5||Fucosyltransferase-6 deficiency (3)||||| 19.15|11|22|94|19p13.3|GTF2F1, RAP74|P|General transcription factor IIF, polypeptide 1 (74kD subunit)||189968|A|||||||| 19.16|6|9|95|19p13.3|GZMM|H|Granzyme M (lymphocyte met-ase 1)||600311|H||||||10(Gzmm)|| 19.17|9|22|93|19p13.3|HHC2, FHH2|P|Hypocalciuric hypercalcemia-2||145981|Fd|||Hypocalciuric hypercalcemia, type II (2)||||| 19.18|6|13|95|19p13.3|LMNB2, LMN2|P|Lamin B2||150341|A|||||||| 19.19|1|1|96|19p13.3|LW|C|LW (Landsteiner-Weiner) blood group||111250|F, Fd, A|close to C3, LU||||||| 19.20|1|12|95|19p13.3|MLLT1, ENL|C|Myeloid/lymphoid, or mixed-lineage leukemia (trithorax (Drosophila)|homolog), translocated to, 1|159556|Ch|fuses with ALL1||||||| 19.21|10|15|95|19p13.3|NFIC|P|Nuclear factor I/C (CCAAT-binding transcription factor)||600729|A|order: cen-NFIX-NFIC-tel|||||?8(Nfic)|| 19.22|6|13|95|19p13.3|NFIX, NF1A|C|Nuclear factor I/X (CCAAT-binding transcription factor)||164005|A||||||8(Nfix)|| 19.23|2|20|97|19p13.3|PJS|P|Peutz-Jeghers syndrome||175200|Fd, D|CGH and LOH used||Peutz-Jeghers syndrome (2)||||| 19.24|5|27|94|19p13.3|POLR2E|P|Polymerase (RNA) II (DNA directed) polypeptide E (25kD)||180664|A|||||||| 19.25|1|24|93|19p13.3|PRTN3, AGP7|C|Proteinase-3 (serine proteinase, neutrophil, Wegener granulomatosis|autoantigen)|177020|A, REn, Psh|||||||| 19.26|11|16|94|19p13.3|TBXA2R|C|Thromboxane A2 receptor||188070|Psh, Fd, A, H|||Bleeding disorder due to defective thromboxane A2 receptor (3)|||10(Tbxa2r)|| 19.27|4|25|93|19p13.3|TCF3, E2A|C|Transcription factor-3 (E2A immunoglobulin enhancer-binding|factors E12/E47)|147141|REa, A|||Leukemia, acute lymphoblastic (1)||||| 19.28|2|11|96|19p13.3|TLE1|P|Transducin-like enhancer of split 1, homolog of Drosophila E(spl)||600189|REa, A|another TLE gene or pseudogene on 9||||||| 19.29|2|11|96|19p13.3|TLE2|P|Transducin-like enhancer of split 2, homolog of Drosophila E(spl)||601041|A|close to TLE1||||||| 19.30|12|13|95|19p13.3-p13.2|AMH, MIF|P|Anti-Mullerian hormone||600957|REa, A|||Persistent Mullerian duct syndrome, type I, 261550 (3)|||10(Amh)|| 19.31|3|15|92|19p13.3-p13.2|ATHS, ALP|P|Atherosclerosis susceptibility (lipoprotein associated)||108725|Fd|closely linked to LDLR; may be LDLR||{Atherosclerosis, susceptibility to} (2)||||| 19.32|10|23|87|19p13.3-p13.2|C3|C|Complement component-3||120700|F, S, A, REa|LE ~7cM in males vs. C3 RFLP||C3 deficiency (3)|||17(C3)|| 19.33|9|13|92|19p13.3-p13.2|DNMT|C|DNA methyltransferase||126375|REa, A|||||||| 19.34|3|23|93|19p13.3-p13.2|EPOR|C|Erythropoietin receptor||133171|A, REa, H, Fd|||[Erythrocytosis, familial], 133100 (3)|||9(Epor)|| 19.35|4|25|93|19p13.3-p13.2|ICAM1|C|Intercellular adhesion molecule-1||147840|REa, H, A|close to Ldlr in mouse|||||9(Icam1)|| 19.36|6|13|95|19p13.3-p13.2|ICAM3, CDW50|P|Intercellular adhesion molecule-3||146631|A, Psh|||||||| 19.37|11|12|96|19p13.3-p13.2|MYO1D|P|Myosin ID||601480|A||||||17(Myo1f)|| 19.38|10|15|94|19p13.3-p13.2|NAGR1|P|N-acetylglucosamine receptor 1 (thyroid)||160994|A|||||||| 19.39|8|21|92|19p13.3-p13.2|RFX2|P|Regulatory factor (trans-acting) 2 (influences HLA class II|expression)|142765|A|||||||| 19.40|10|15|95|19p13.3-p13.2|SAP62|P|Spliceosome protein SAP-62||600796|REn||||||10(Sap62)|| 19.41|9|28|96|19p13.3-p13.2|ZNF20, KOX13|P|Zinc finger protein 14 (KOX 6)||194556|REc, A|||||||| 19.42|4|25|93|19p13.3-p13.2|VAV|C|Oncogene VAV||164875|REa, A, RE|close to INSR||||||| 19.43|9|28|96|19p13.3-p13.2|ZNF14, KOX6|P|Zinc finger protein 14 (KOX 6)||194556|REc, A|||||||| 19.44|3|20|94|19p13.3-p13.1|ACP5|C|Acid phosphatase 5, tartrate resistant||171640|REa, H, Psh|incorrectly assigned to 15 by A|||||9(Acp5)|| 19.45|6|8|95|19p13.2|BST2|P|Bone marrow stromal cell antigen||600534|A|||||||| 19.46|8|21|91|19p13.2|CALR, SSA|P|Sicca syndrome antigen A (autoantigen Ro; calreticulin)||109091|REa|distal to C3, near LDLR||||||| 19.47|6|6|94|19p13.2|GCDH|P|Glutaryl-Coenzyme A dehydrogenase||231670|REa, A|||Glutaricacidemia, type I (3)|||8(Gcdh)|| 19.48|6|20|94|19p13.2|INSL3|P|Insulin-like 3 (Leydig cell)||146738|A|||||||| 19.49|4|25|93|19p13.2|INSR|C|Insulin receptor||147670|REa, A, REb|1 gene for alpha and beta subunits||Leprechaunism (3); Diabetes mellitus, insulin-resistant, with|acanthosis nigricans (3); Rabson-Mendenhall syndrome (3)||8(Insr)|| 19.50|4|25|93|19p13.2|JUNB|C|jun B proto-oncogene||165161|A||||||8(Junb)|| 19.51|1|12|95|19p13.2|RAD23A, HHR23A|P|RAD23 (Saccharomyces cerevisiae) homolog A||600061|A||||||8(Rad23a)|| 19.52|4|25|93|19p13.2|TYK2|C|Tryosine kinase-2||176941|REa, A|||||||| 19.53|4|10|97|19p13.2|U2AF1RS3|P|U2 small nuclear ribonucleoprotein auxiliary factor, small subunit 3||601080|A|||||||| 19.54|4|25|96|19p13.2-p13.12|CD97|P|CD97 antigen||601211|?REa|||||||| 19.55|10|23|87|19p13.2-p13.1|LDLR,FHC|C|Familial hypercholesterolemia (LDL receptor)||143890|F, REa, A|~20cM distal to C3||Hypercholesterolemia, familial (3)|||9(Ldlr)|| 19.56|4|25|93|19p13.2-p13.1|LYL1|C|Lymphoblastic leukemia derived sequence-1||151440|Ch, A|||Leukemia, T-cell acute lymphoblastoid (2)|||8(Lyl1)|| 19.57|1|12|95|19p13.2-p13.1|NOTCH3|P|Notch (Drosophila) homolog 3||600276|REa, A|||||||| 19.58|6|21|91|19p13.2-cen|MEL|C|Oncogene MEL||165040|REa, Fd|||||||| 19.59|4|21|97|19p13.2-q12|PDE4A, DPDE2|C|phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog|phosphodiesterase E2)|600126|REa, A||||||9(Pde4a)|| 19.60|2|9|92|19p13.2-q13.2|TNNI3, TNNC1|P|Troponin-I, cardiac||191044|REa||||||7(Tnni3)|| 19.61|10|27|93|19p13.2-q13.3|LPSA, D19S381E|P|Oncogene liposarcoma (DNA Segment, single copy, expressed, probes|MC15, MC6)|164953|A|||Liposarcoma (1)||||| 19.62|10|23|87|19p13.2-q13.4|DNL|P|DNase, lysosomal||126350|S|||||||| 19.63|9|23|96|19p13.11-p13.12|DHPS|C|Deoxyhypusine synthase||600944|REa, A|||||||| 19.64|4|24|96|19p13.1|CADASIL, CASIL|C|Cerebral autosomal dominant arteriopathy with subcortical infarcts|and leukoencephalopathy|125310|Fd|||Cerebral arteriopathy with subcortical infarcts and|leukoencephalopathy (2)|||| 19.65|7|4|95|19p13.1|COMP, EDM1, MED, PSACH|P|Cartilage oligomeric matrix protein||600310|REa, A, Fd|||Pseudoachondroplasia, 177170 (3); Epiphyseal dysplasia, multiple 1,|132400 (3)|||| 19.66|4|23|96|19p13.1|ELL|C|ELL gene (11-19 lysine-rich leukemia gene)||600284|Ch, RE|||||||| 19.67|1|9|95|19p13.1|RFX1|C|Regulatory factor (trans-acting) 1 (influences HLA class II|expression)|600006|A|||Severe combined immunodeficiency, HLA class II-negative|type, 209920 (2)|||| 19.68|6|13|95|19p13.1|PTGER1|P|Prostaglandin E receptor 1 (subtype EP1), 42kD||176802|A|||||||| 19.69|9|29|96|19p13.1|TPM4|P|Tropomyosin 4||600317|Psh, A|||||||| 19.70|4|25|93|19p13.1-p12|JUND|C|jun D proto-oncogene||165162|A||||||8(Jund)|| 19.71|4|25|93|19p13.1-p12|RAB3A|C|RAS-associated protein RAB3A||179490|REb, A|||||||| 19.72|3|20|94|19p13.1-p12|UBA52|P|Ubiquitin A-52 residue ribosomal protein fusion product 1||191321|REa, A|||||||| 19.73|10|23|87|19p13.1-q13.11|GEY|P|Green/blue eye color||227240|F|different locus for brown/blue||||||| 19.74|3|1|89|19p13.1-q13.11|HCL1, BRHC|P|Brown hair color||113750|F|||||||| 19.75|5|27|93|19p13-q13.4|CD37|P|Leukocyte surface antigen CD37||151523|REa|||||||| 19.76|2|20|97|19p13|CACNL1A4|C|Calcium channel, L type, alpha 1 polypeptide, isoform 4|(neuroendocrine)|601011|A, Fd|||Hemiplegic migraine, familial, 141500 (3); Episodic ataxia type 2,|108500 (3); Spinocerebellar ataxia-6, 183086 (3)||8(tg, Cacl1a4)|| 19.77|11|9|95|19p13|CDKN2D|P|Cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)||600927|A|possible tumor suppressor||||||| 19.78|6|12|92|19p13|GNA11|P|Guanine nucleotide-binding protein, Gq class, GNA11||139313|A||||||10(Gna11)|| 19.79|9|27|95|19p13|GNA15, GNA16|P|Guanine nucleotide-binding protein (G protein) alpha 15 (Gq class)||139314|REa, A||||||10(Gna15)|| 19.80|11|8|95|19p12|MEF2B|P|MADS box transcription enhancer factor 2, polypeptide B (myocyte|enhancer factor 2B)|600661|REn||||||?8(Mef2b)|| 19.81|11|30|94|19p|EXT3|P|Exostoses (multiple) 3||600209|Fd|||Exostoses, multiple, type 3 (2)||||| 19.82|10|12|90|19p|FNRBL|P|Fibronectin receptor, beta subunit, pseudogene (insertion|polymorphism)|135631|Fd, A|proximal 19p||||||| 19.83|7|13|93|19p|ZNF77|P|Zinc finger protein-77 (pT1)||194551|REa|||||||| 19.84|4|25|93|19p|ZNF121, D19S204|P|Zinc finger protein-121 (clone ZHC32)||194628|REa, Fd|||||||| 19.85|1|17|96|19cen-q12|MANB|C|Mannosidase, alpha B, lysosomal||248500|S, Psh|||Mannosidosis, alpha- (1)|||8(Man2b1)|| 19.86|11|11|91|19cen-q13.11|LU, AU|C|Lutheran blood group; Auberger blood group||111200|F|linked to SE||||||| 19.87|3|29|90|19cen-q13.11|PEPD|C|Peptidase D (prolidase)||170100|S, F, H, Fd|closely linked to APOC2||Prolidase deficiency (3)|||7(Pep4)|| 19.88|2|2|90|19cen-q13.2|A1BG|P|Glycoprotein, alpha-1B||138670|F|order: C3-SE-LU-A1BG||||||| 19.89|12|16|93|19cen-q13.2|AD2|C|Alzheimer disease-2 (late-onset)||104310|Fd|associated with APOE4; ?another gene also||Alzheimer disease-2, late onset (2)||||| 19.90|4|25|93|19cen-q13.2|APLP1, APLP|P|Amyloid beta (A4) precursor-like protein-1||104775|REa|||||||| 19.91|4|21|97|19q|BFIC|P|Benign familial infantile convulsions||601764|Fd|||Benign familial infantile convulsions (2)||||| 19.92|7|13|92|19q|RPS11|P|Ribosomal protein S11||180471|Psh|||||||| 19.93|5|17|95|19q|SYT3|P|Synaptotagmin-3||600327|REa, H||||||7(Syt3)|| 19.94|3|19|93|19q11-q13.2|HPN|P|Hepsin||142440|REa|||||||| 19.95|5|27|94|19q12|POLR2I|P|Polymerase (RNA) II (DNA directed) polypeptide I (14.5kD)||180662|A|||||||| 19.96|7|4|95|19q12|UQCRFS1|P|Ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1||191327|REa, A, RE|||||||| 19.97|1|25|95|19q12-q13.1|NPHS1, CNF, NFC|P|Nephrosis 1, congenital, Finnish type||256300|Fd|||Nephrosis, congenital, Finnish (2)||||| 19.98|1|12|89|19q12-q13.2|ATP1A3|C|ATPase, Na+K+ transporting, alpha-3 polypeptide||182350|REa, H, Fd||||||7(Atpla3)|| 19.99|9|8|90|19q13|APS|C|Antigen, prostate-specific||176820|REa, RE, A|probably with cluster KLK1, KLK2|||||7(Aps)|| 19.100|6|5|90|19q13|BCL3|C|B-cell CLL/lymphoma-3||109560|Ch, S, H|||Leukemia/lymphoma, B-cell, 3 (2)|||7(Bcl3)|| 19.101|10|25|90|19q13|CKM, CKMM|C|Creatine kinase, muscle type||123310|REa, A||||||7(Ckmm)|| 19.102|8|28|95|19q13|DFNA4|P|Deafness, autosomal dominant 4||600652|Fd|||Deafness, autosomal dominant 4 (2)||||| 19.103|9|12|95|19q13|ECH1|P|Enoyl Coenzyme A hydratase 1, peroxisomal||600696|REc, REa|||||||| 19.104|5|30|90|19q13|KLK2|C|Kallikrein-2, prostatic||147960|REa, RE|12kb from APS||||||| 19.105|9|1|95|19q13|OFC3|P|Orofacial cleft-3||600757|Fd|?role of BCL3||Orofacal cleft-3 (2)|||7(Cebpa)|| 19.106|8|11|91|19q13|PLAUR, URKR|P|Plasminogen activator, urokinase, receptor||173391|REa, Fd|||||||| 19.107|10|16|95|19q13|USF2|L|Upstream transcription factor 2, c-fos interacting||600390|H||||||7(Usf2)|| 19.108|10|12|90|19q13-qter|AAVS1|P|Adeno-associated virus integration site-1||102699|REa, A|||||||| 19.109|12|2|92|19q13.1|ATP4A, ATP6A|P|ATPase, H+, K+ transporting, alpha||137216|A||||||7(Atp4a)|| 19.110|1|27|97|19q13.1|CCNE|C|Cyclin E||123837|A, REc||||||7(Ccne)|| 19.111|7|13|93|19q13.1|CD22|P|CD22 antigen||107266|A|||||||| 19.112|9|12|92|19q13.1|CEBPA, CEBP|C|CCAAT/enhancer-binding protein (C/EBP), alpha||116897|REa, A|||||||| 19.113|11|4|93|19q13.1|CLC|C|Charcot-Leyden crystal protein||153310|REa, A, RE|||||||| 19.114|9|27|91|19q13.1|COX6B|P|Cytochrome c oxidase VIb||124089|A|||||||| 19.115|4|25|93|19q13.1|GPI|C|Glucose phosphate isomerase; neuroleukin||172400|S, D, A|||Hemolytic anemia due to glucosephosphate isomerase deficiency (3);|Hydrops fetalis, one form (1)||7(Gpi1)|| 19.116|4|25|93|19q13.1|MAG, GMA|C|Myelin-associated glycoprotein||159460|REa, REb, A||||||7(Mag)|| 19.117|1|6|97|19q13.1|ZNF146, OZF|P|Zinc finger protein 146||601505|A|||||||| 19.118|9|22|93|19q13.1|RYR1, MHS, CCO|C|Ryanodine receptor-1 (skeletal)||180901|A, Fd, H|||Malignant hyperthermia susceptibility-1, 145600 (3); Central core|disease, 117000 (3)||7(Ryr)|| 19.119|1|12|95|19q13.1|SCN1B|P|Sodium channel, voltage-gated, type I, beta polypeptide||600235|A|||||||| 19.120|8|19|91|19q13.1|ZFP36, TTP|P|Zinc finger protein homologous to Zfp-36 in mouse||190700|REa, A, H||||||7(Zfp36)|| 19.121|10|27|92|19q13.1-q13.2|AKT2|P|Murine thymoma viral (v-akt) homolog-2||164731|A|||Ovarian carcinoma, 167000 (2)||||| 19.122|9|22|93|19q13.1-q13.2|AXL|C|AXL transforming sequence (a receptor tyrosine kinase)||109135|A|||||||| 19.123|4|10|90|19q13.1-q13.2|BCKDHA, MSUD1|C|Branched chain keto acid dehydrogenase E1, alpha polypeptide||248600|REa, REb, A|||Maple syrup urine disease, type Ia (3)||||| 19.124|11|17|94|19q13.1-q13.2|CORD2, CRD|P|Cone rod dystrophy 2 (autosomal dominant)||120970|Fd|||Cone-rod retinal dystrophy-2 (2)||||| 19.125|7|13|95|19q13.1-q13.2|LIPE, LHS|C|Lipase, hormone-sensitive||151750|REa, A||||||7(Lipe)|| 19.126|9|13|92|19q13.1-q13.3|PSG1, PSBG1, B1G1, SP1|C|Pregnancy-specific beta-1-glycoprotein-1||176390|REa|distal to CEA||||||| 19.127|6|13|95|19q13.1-q13.3|PSG4|P|Pregnancy specific beta-1-glycoprotein-4||176393|REa|||||||| 19.128|6|13|95|19q13.1-q13.3|PSG5|P|Pregnancy specific beta-1-glycoprotein-5||176394|REa|||||||| 19.129|6|13|95|19q13.1-q13.3|PSG6|P|Pregnancy specific beta-1-glycoprotein-6||176395|REa|||||||| 19.130|6|13|95|19q13.1-q13.3|PSG7|P|Pregnancy specific beta-1-glycoprotein-7||176396|REa|||||||| 19.131|6|13|95|19q13.1-q13.3|PSG8|P|Pregnancy specific beta-1-glycoprotein-8||176397|REa|||||||| 19.132|4|10|90|19q13.1-q13.3|TGFB1|P|Transforming growth factor, beta-1||190180|REa, A||||||7(Tgfb1)|| 19.133|10|23|87|19q13.1-qter|E11S|C|Echo 11 sensitivity||129150|S|||||||| 19.134|9|16|88|19q13.1-qter|RDRC, M7V1, M7VS1|C|RD114 virus receptor (baboon M7 virus receptor)||109190|Ch, S|||||||| 19.135|9|29|96|19q13.11-q13.12|CKAP1|P|Cytoskeleton-associated protein 1||601303|A|||||||| 19.136|1|1|96|19q13.13-q13.2|BLVRB|P|Biliverdin reductase B||600941|A|||||||| 19.137|10|16|95|19q13.2|APOC4|P|Apolipoprotein C-IV||600745|REn|555bp upstream of APOC2||||||| 19.138|4|25|93|19q13.2|APOLP2@|C|APOLIPOPROTEIN CLUSTER II|||F, REa, LD|5'--APOE-4.3kb-APOC1-6kb-APOC1 pseudogene-22kb-APOC2--3'||||||| 19.139|4|25|93|19q13.2|APOE|C|Apolipoprotein E||107741|F, REa, LD, A, Fd|||Hyperlipoproteinemia, type III (3)|||7(Apoe)|| 19.140|4|25|93|19q13.2|APOC1|C|Apolipoprotein C-I||107710|REa, RE, A|||||||| 19.141|4|25|93|19q13.2|APOC2|C|Apolipoprotein C-II||207750|REa, F, LD, A, Fd|||Hyperlipoproteinemia, type Ib (3)||||| 19.142|9|13|92|19q13.2|BGP|C|Biliary glycoprotein||109770|H, REn|in CEA cluster|||||7(Bgp1)|| 19.143|10|4|91|19q13.2|CEA|C|Carcinoembryonic antigen||114890|REa, A, REc|proximal to PSG cluster in 1.1-1.2Mb segment||||||| 19.144|4|25|93|19q13.2|CYP2A, P450C2A|C|Cytochrome P450, subfamily IIA (phenobarbital-inducible)||123960|REa, A, Fd, REn|CYP1 = earlier symbol|||||7(Cyp2a)|| 19.145|4|25|93|19q13.2|CYP2B|C|Cytochrome P450, subfamily IIB (phenobarbital-inducible)||123930|REa, REn, Fd|same NotI fragment as CYP2A|||||7(Cyp2b)|| 19.146|4|25|93|19q13.2|CYP2F1|C|Cytochrome P450, subfamily IIF, polypeptide 1||124070|Fd, REa, A, REn|CYP2A, CYP2B, CYP2F1 in 240kb|||||7(Cyp2f1)|| 19.147|1|12|95|19q13.2|GRIK5|P|Glutamate receptor, ionotropic, kainate 5||600283|REa, A||||||7(Grik5)|| 19.148|2|9|95|19q13.2|IGB|P|Immunoglobulin-associated alpha||600352|Psh|||||||| 19.149|9|13|92|19q13.2|NCA|C|Non-specific crossreacting antigen||163980|REa, A, REn|in CEA cluster||||||| 19.150|4|25|93|19q13.2|PSG2, PSBG2|C|Pregnancy-specific beta-1-glycoprotein-2||176391|RE, A|||||||| 19.151|6|13|95|19q13.2|PSG3|P|Pregnancy-specific beta-1-glycoprotein-3||176392|A|||||||| 19.152|5|15|95|19q13.2|PSG11|P|Pregnancy-specific beta-1-glycoprotein 11||176398|A|||||||| 19.153|5|15|95|19q13.2|PSG12|P|Pregnancy-specific beta-1-glycoprotein 12||176399|A|||||||| 19.154|5|14|95|19q13.2|PSG13|P|Pregnancy-specific beta-1-glycoprotein 13||176401|A|||||||| 19.155|4|25|93|19q13.2|XRCC1|C|X-ray-repair, complementing defective, repair in Chinese hamster|cells-1|194360|S, A||||||7(Xrcc1)|| 19.156|7|13|93|19q13.2-q13.3|CALM3|C|Calmodulin 3||114183|REa, Psh, A|||||||| 19.157|9|22|93|19q13.2-q13.3|DM|C|Dystrophia myotonica||160900|F, Fd|distal to APOLP2; distal to CKM||Myotonic dystrophy (3)|||7(Dm)|Fu (1992); Mahadevan (1992)| 19.158|4|25|93|19q13.2-q13.3|ERCC1, UV20|C|Excision repair cross complementing rodent repair deficiency,|complementation group-1|126380|S, RE, Fd, A|distal to CKM||||||| 19.159|2|9|92|19q13.2-q13.3|ERCC2, EM9|C|Excision repair cross complementing rodent repair deficiency,|complementation group-2|126340|S, RE, M|< 250kb from ERCC1||Xeroderma pigmentosum, group D, 278730 (3)|||7(Ercc2)|Flejter (1992)| 19.160|2|15|96|19q13.2-q13.3|GPR4|P|G protein-coupled receptor 4||600551|A|||||||| 19.161|5|17|95|19q13.2-q13.3|HB1, PFHB1|P|Heart block, progressive familial, type I||113900|Fd|||Heart block, progressive familial, type I (2)||||| 19.162|7|8|96|19q13.2-q13.3|KLC2|P|Kinesin, light chain, 2||601334|REn|||||||| 19.163|4|25|93|19q13.2-q13.3|LIG1|C|Ligase I, DNA, ATP-dependent||126391|REa, A|||DNA ligase I deficiency (3)|||7(Lig1)|Barnes (1992); Webster (1992)| 19.164|2|15|96|19q13.2-q13.3|MOK2|P|Zinc finger MOK2 protein||601069|A||||||6(Mok2)|| 19.165|4|25|93|19q13.2-q13.3|PVS|C|Polio virus sensitivity||173850|S, A, REa|||{Polio, susceptibility to} (2)|||9(Pvs)|| 19.166|3|20|94|19q13.2-q13.3|TRSP|C|tRNA phosphoserine (opal suppressor)||165060|REa, A, Fd|pseudogene on 22|||||7(Trsp)|| 19.167|3|31|97|19q13.2-q13.3|VASP|P|Vasodilator-stimulated phosphoprotein||601703|A|||||||| 19.168|8|21|91|19q13.2-q13.4|KLK1, KLKR|C|Kallikrein, renal/pancreas/salivary||147910|REa, A, Fd|~10cM distal to APOC2|||||7(Kal)|| 19.169|9|15|96|19q13.2-q13.4|NUCB1|P|Nucleobindin 1||601323|Psh, A|||||||| 19.170|4|25|93|19q13.2-q13.4|ZNF42, MZF1|P|Zinc finger protein-42 (myeloid-specific retinoic acid responsive)||194550|A, REb|||||||| 19.171|9|28|96|19q13.2-qter|ZNF13, KOX5|P|Zinc finger protein 13 (KOX 5)||194554|REc, A|||||||| 19.172|9|28|96|19q13.2-qter|ZNF27, KOX22|P|Zinc finger protein 27 (KOX 22)||194555|REc, A|||||||| 19.173|2|15|96|19q13.3|DBP|C|D site of albumin promoter binding protein||124097|REa, A, REc||||||7(Dbp)|| 19.174|1|23|96|19q13.3|DMAHP|P|DM locus-associated homeodomain protein||600963|REn|||||||| 19.175|3|20|94|19q13.3|ETFB|C|Electron transfer flavoprotein, beta polypeptide||130410|REa, A|||Glutaricaciduria, type IIB (3)|||7(Etfb)|| 19.176|9|23|96|19q13.3|FCGRT|P|Fc fragment of IgG, receptor, transporter, alpha||601437|A|||||||| 19.177|6|11|92|19q13.3|FOSB|P|Oncogene FOS-B||164772|REn||||||7(Fosb)|| 19.178|1|1|96|19q13.3|FUT1, H, HH|C|Fucosyltransferase-1 (Bombay phenotype)||211100|F, Fd|SE tightly linked||||||| 19.179|1|1|96|19q13.3|FUT2, SE|C|Fucosyltransferase-2 (secretor)||182100|F, Fd|H, SE = alpha-L-fucosyltransferases; from common ancestral genes;|tightly linked to FUT1|||||| 19.180|1|16|96|19q13.3|GIPR|C|Gastric inhibitory polypeptide receptor||137241|A, Fd|||||||| 19.181|4|25|93|19q13.3|GYS1, GYS|C|Glycogen synthase||138570|REa, A|||{Non-insulin dependent diabetes mellitus, susceptibility to} (2)||||| 19.182|1|25|91|19q13.3|HRC|P|Histidine-rich calcium-binding protein||142705|REa, A, H|||||||| 19.183|3|6|94|19q13.3|NGFG|P|Nerve growth factor, gamma subunit||162040|H||||||7(Ngfg)|| 19.184|7|13|93|19q13.3|NTF4, NT4|P|Neurotrophin-4||162661|A|||||||| 19.185|4|10|96|19q13.3|PPP5C, PP5|P|Protein phosphatase 5, catalytic subunit||600658|Psh, A|||||||| 19.186|6|13|95|19q13.3|PTGIR|P|Prostaglandin I2 (prostacyclin) receptor (IP)||600022|A, REa||||||7(Ptgir)|| 19.187|7|9|90|19q13.3|SNRP70, U1RNP, RNPU1Z, RPU1|C|Small nuclear ribonucleoprotein 70kD polypeptide (RNP antigen)||180740|REa, A|||||||| 19.188|7|26|95|19q13.3|SLC1A5|P|Solute carrier family 1 (neutral amino acid transporter), member 5||600683|A, Fd|||||||| 19.189|6|27|95|19q13.3|STD|C|Sulfotransferase dehydroepiandrosterone (DHEA)-preferring||125263|A, Psh, Fd|||||||| 19.190|5|17|95|19q13.3|UNR|P|Ubiquitously-expressed nuclear receptor||600380|A|||||||| 19.191|5|17|95|19q13.3-q13.4|BAX|P|BCL2-associated X protein||600040|REa, A|||||||| 19.192|4|25|93|19q13.3-q13.4|CD33|C|CD33 antigen (gp67)||159590|REa, A|||||||| 19.193|12|17|95|19q13.3-q13.4|FTL|C|Ferritin, light chain||134790|S, A, REa, REb|||Hyperferritinemia-cataract syndrome, 600886 (3)||||| 19.194|8|11|91|19q13.3-q13.4|IL11|P|Interleukin-11||147681|A|||||||| 19.195|6|20|94|19q13.3-q13.4|KCNC2|P|Potassium voltage-gated channel, Shaw-related subfamily, member 2||176256|A||||||10(Kcnc2)|| 19.196|3|20|94|19q13.3-q13.4|KCNC3|C|Potassium voltage-gated channel, Shaw-related subfamily, member 3||176264|REa, A||||||10(Kcnc3)|| 19.197|9|12|92|19q13.3-q13.4|POLD1|C|Polymerase (DNA directed), delta 1, catalytic subunit||174761|Psh, REa, A|||||||| 19.198|10|15|94|19q13.3-q13.4|ZNF83|P|Zinc finger protein 83 (HPF1)||194558|194558|A||||||| 19.199|3|27|95|19q13.3-q13.4|ZNF160|P|Zinc finger protein 160||600398|A|||||||| 19.200|10|23|87|19q13.32|CGB|C|Chorionic gonadotropin, beta polypeptide||118860|REa, H, A|at least 5 genes||||||| 19.201|2|9|92|19q13.32|LHB|C|Luteinizing hormone, beta polypeptide||152780|RE|beta chains of FSH, TSH on 11p, 1p, respectively||Hypogonadism, hypergonadotropic (3); ?Male pseudohermaphroditism|due to defective LH (1)||7(Lhb)|| 19.202|1|8|97|19q13.32-q13.33|MIA|P|Melanoma inhibitory activity||601340|A|||||||| 19.203|7|12|92|19q13.4|FCAR|P|Fc fragment of IgA, receptor for||147045|REa, A|||||||| 19.204|10|15|94|19q13.4|LIM2, MP19|C|Lens intrinsic protein 2 (19kD)||154045|REc, REa, A|same cosmid as ETFB|||||7(Lim2)|| 19.205|10|15|94|19q13.4|RP11|C|Retinitis pigmentosa-11 (autosomal dominant)||600138|Fd|||Retinitis pigmentosa-11 (2)||||| 19.206|4|25|93|19q13.4|PRKCG, PKCC, PKCG|C|Protein kinase C, gamma polypeptide||176980|REa, A, Fd||||||7(Pkcc)|| 19.207|2|11|96|19q13.4|TNNT1|C|Troponin-T1, skeletal, slow||191041|REa, Psh, A|||||||| 19.208|11|13|94|Chr.19|AES|P|Amino-terminal enhancer of split||600188|REa|||||||| 19.209|10|16|89|Chr.19|BCT2|P|Branched chain aminotransferase-2||113530|S|||?Hypervalinemia or hyperleucine-isoleucinemia (1)||||| 19.210|8|27|92|Chr.19|C5R1, C5AR|P|Complement component-5 receptor-2 (C5a ligand)||113995|REa|||||||| 19.211|5|18|90|Chr.19|CAPN4|P|Calpain, small polypeptide||114170|REb|||||||| 19.212|3|14|96|Chr.19|CLPP|P|ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human|homolog of|601119|REa|||||||| 19.213|9|22|93|Chr.19|COX7A1, COX7AM|P|Cytochrome c oxidase subunit VIIa, polypeptide-1 (muscle)||123995|REa|||||||| 19.214|3|29|89|Chr.19|ERBAL2, EAR2|P|ERBA-related gene-2||132880|REb|||||||| 19.215|6|11|92|Chr.19|FPR1|C|Formyl peptide receptor-1||136537|REa|||||||| 19.216|8|21|91|Chr.19|FPRL1, FPRH1|P|Formyl peptide receptor-like-1||136538|REa|||||||| 19.217|6|11|92|Chr.19|FPRL2, FPRH2|P|Formyl peptide receptor-like-2||136539|REa|||||||| 19.218|5|27|94|Chr.19|GPX4|P|Glutathione peroxidase 4 (phospholipid hydroperoxidase)||138322|REa|||||||| 19.219|10|23|87|Chr.19|GUSM|P|Beta-glucuronidase, mouse, modifier of||231610|S|||||||| 19.220|5|24|90|Chr.19|HKR1|P|GLI-Kruppel family member HKR1 (oncogene HKR1)||165250|REa|||||||| 19.221|5|24|90|Chr.19|HKR2|P|GLI-Kruppel family member HKR2 (oncogene HKR2)||165260|REa|||||||| 19.222|3|15|92|Chr.19|KCNA7|P|Potassium voltage-gated channel, shaker-related subfamily, member 7||176268|REa|||||||| 19.223|6|27|95|Chr.19|LGALS7|P|Lectin, galactoside-binding, solute 7 (galectin 7)||600615|REa|||||||| 19.224|9|12|95|Chr.19|MIF|P|Macrophage migration inhibitory factor||153620|REa||||||10(Mif)|| 19.225|11|4|93|Chr.19|MYBPC2, MYBPCF|P|Myosin-binding protein C, fast type||160793|REa|||||||| 19.226|2|24|97|Chr.19|NEUD4|P|Neuro-d4 (rat) homolog||601670|REa|||||||| 19.227|10|21|92|Chr.19|NTF5|P|Neurotrophin-5||162662|REa|3 genes, ? functional, also on 19|||||7(Ntf5)|| 19.228|5|17|95|Chr.19|PCSK4|P|Proprotein convertase subtilisin/kexin type 4||600487|REa|?close to AMH on 19q|||||10(Pcsk4)|| 19.229|10|15|94|Chr.19|PDE4C, DPDE1|P|phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog|phosphodiesterase E1)|600128|REa||||||8(Pde4c)|| 19.230|10|23|87|Chr.19|PGK2|C|Phosphoglycerate kinase-2 (testicular PGK)||172270|REa, A, REb|||||||| 19.231|4|25|95|Chr.19|POU2F2, OTF2, OCT2|P|POU domain, class 2, transcription factor 2||164176|REa||||||7(Otf2)|| 19.232|6|29|94|Chr.19|PRKCSH, G19P1|P|Protein kinase C substrate 80K-H||177060|REb|||||||| 19.233|12|17|87|Chr.19|RRAS|P|Oncogene RRAS||165090|REa||||||7(Rras)|| 20.1|10|12|90|20pter-p12.21|PDYN|C|Prodynorphin||131340|REa, A, Fd|||||||| 20.2|5|13|93|20pter-p12|CHGB, SCG1|C|Chromogranin B (secretogranin B)||118920|REa, A, H||||||2(Scg1)|| 20.3|3|23|92|20pter-p12|PRNP, PRIP|C|Prion protein (p27-30)||176640|REa, REb, A|pter-PRNP-SCG1-BMP2A-PAX1-cen||Creutzfeldt-Jakob disease, 123400 (3); Gerstmann-Straussler disease,|137440 (3); Insomnia, fatal familial (3)||2(Prnp)|| 20.4|10|15|94|20p13|ADRA1D|C|Adrenergic, alpha-1D-, receptor||104222|REa, A|||||||| 20.5|4|25|93|20p13|AVP, AVRP, VP|C|Arginine vasopressin (neurophysin II, antidiuretic hormone)||192340|REa, RE, Fd|distal 20p||Diabetes insipidus, neurohypophyseal, 125700 (3)|||2(Avp)|| 20.6|11|4|93|20p13|CDC25B|C|Cell division cycle 25B||116949|REa, A, Psh|||||||| 20.7|1|12|95|20p13|CENPB|C|Centromeric protein B||117140|REa, A|||||||| 20.8|10|23|92|20p13|CSNK2A1, CK2A1|C|Casein kinase-2, alpha-1 polypeptide||115440|REa, A|pseudogene on 11p15||||||| 20.9|4|25|93|20p13|FKBP1, FKBP12|C|FK506-binding protein-1 (12kD)||186945|Psh, A|||||||| 20.10|4|25|93|20p13|OXT|C|Oxytocin-neurophysin I||167050|RE, Fd, A|12kb from ARVP|||||2(Oxt)|| 20.11|8|17|92|20p13|PTPRA, PTPA, PTPRL2, LRP|C|Protein tyrosine phosphatase, receptor-type, alpha polypeptide||176884|REa, A||||||2(Ptpa)|| 20.12|10|17|95|20p13|SN|P|Sialoadhesin||600751|REa, A||||||2(Sn)|| 20.13|2|18|96|20p13|TCF15|P|Transcription factor 15 (basic helix-loop-helix)||601010|A||||||2(Meso1)|| 20.14|11|5|92|20p12|BMP2, BMP2A|C|Bone morphogenetic protein-2||112261|H, REa, A|||?Fibrodysplasia ossificans progressiva (1)|||2(Bmp2a)|| 20.15|8|21|91|20p12|PCNA|C|Proliferating cell nuclear antigen||176740|REa, A|pseudogenes on X and 6||||||| 20.16|12|7|95|20p12|PLCB4|P|Phospholipase C, beta 4||600810|Psh, A|||||||| 20.17|9|23|96|20p12-p11.2|ES130|P|Extracellular matrix glycoprotein, chicken, human homolog of||601418|A|||||||| 20.18|5|18|92|20p11.2|AGS, AHD|C|Alagille syndrome (arteriohepatic dysplasia)||118450|Ch, D, Fd|?20p12.3-p11.23||Alagille syndrome (2)||||| 20.19|3|31|97|20p11.21|CST5|P|Cystatin D||123858|A|||||||| 20.20|5|27|93|20p11.2|PAX1|C|Paired box homeotic gene-1||167411|A, Psh, REa||||||2(Pax1)|| 20.21|5|14|95|20p11.2|SSTR4|P|Somatostatin receptor 4||182454|A, Psh|||||||| 20.22|9|29|96|20p11.2|PCSK2, NEC2, PC2|C|Proprotein convertase subtilisin/kexin type 2||162151|A, R||||||2(Nec2)|| 20.23|9|29|96|20p11.2|SNAP|P|Synaptosomal-associated protein (25kD)||600322|R||||||2(Snap)|| 20.24|4|24|96|20p11.2-p11.1|PYGB|C|Phosphorylase, glycogen, brain||138550|REa, REb, A||||||2(Pygb)|| 20.25|9|29|96|20p11.2|THBD, THRM|C|Thrombomodulin||188040|REb, A, R|||Thrombophilia due to thrombomodulin defect (3)|||2(Thbd)|| 20.26|2|12|96|20p11.2-q11.2|CHED|P|Congenital hereditary endothelial dystrophy of cornea||121700|Fd|?allelic to PPCD; both in pericentric area||Congenital hereditary endothelial dystrophy of cornea (2)||||| 20.27|2|12|96|20p11.2-q11.2|PPCD, PPD|P|Posterior polymorphous corneal dystrophy||122000|Fd|in pericentric region||Corneal dystrophy, posterior polymorphous (2)||||| 20.28|8|11|91|20p11|CST3|C|Cystatin C||105150|REa, A|proximal to 20p11.2||Cerebral amyloid angiopathy (3)|||2(Cst3)|| 20.29|1|12|95|20p|HNF3B|L|Hepatic nuclear factor-3-beta||600288|H||||||2(Hnf3b)|| 20.30|5|15|89|20p|ITPA|C|Inosine triphosphatase-A||147520|S|||[Inosine triphosphatase deficiency] (1)|||2(Itp)|| 20.31|4|10|97|20cen-q13|MAP1ALC3, MAP1BLC3|P|Microtubule-associated proteins 1A and 1B, light chain 3||601242|REa|||||||| 20.32|9|8|90|20cen-q13.1|AHCY, SAHH|C|S-adenosylhomocysteine hydrolase||180960|S, F|~13cM from ADA||||||| 20.33|1|15|96|20q11|ID1|P|Inhibitor of DNA binding 1, dominant negative||600349|REa, A|||||||| 20.34|10|23|87|20q11-q12|HCK|P|Hemopoietic cell kinase||142370|REb, A|||||||| 20.35|1|12|95|20q11.2|AGTIL|P|Agouti (mouse)-like||600201|Psh, A||||||2(a)|| 20.36|3|16|95|20q11.2|GHRF|C|Growth hormone releasing factor; somatocrinin||139190|REa, REb, Ch, Fd, A|||?Isolated growth hormone deficiency due to defect in GHRF (1);|Gigantism due to GHRF hypersecretion (1)|||| 20.37|2|18|96|20q11.2|GSS, GSHS|P|Glutathione synthetase||601002|REa, A|||Hemolytic anemia due to glutathione synthetase deficiency, 231900|(1); 5-oxoprolinuria, 266130 (1)|||| 20.38|5|27|94|20q11.2|RBL1, CP107|P|Retinoblastoma-like 1 (p107)||116957|A||||||2(Rbl1)|| 20.39|9|9|96|20q11.2|SNT1|C|Syntrophin, alpha (dystrophin-associated protein A1, 59kD, acidic|component)|601017|REa, Psh, A||||||2(Snta1)|| 20.40|9|29|96|20q11.2-q12|MLRG, MTS|P|Myeloid leukemia-related gene (myeloid tumor suppressor)||601308|Ch|||||||| 20.41|1|12|95|20q11.2-q12|TGM2|C|Transglutaminase-2 (C polypeptide,|protein-glutamine-gamma-glutamyltransferase)|190196|A, Psh|||||||| 20.42|5|17|95|20q11.2-q13.1|MMP9, CLG4B|C|Matrix metalloproteinase 9 (gelatinase B, 92kD type IV collagenase)||120361|REa, Fd, H, A||||||2(Clg4b)|| 20.43|4|25|93|20q11.23-q12|BPI|P|Bactericidal/permeability-increasing protein||109195|REa, A|||||||| 20.44|4|25|93|20q11.23-q12|LBP|P|Lipopolysaccharide-binding protein||151990|REa, A|||||||| 20.45|5|14|95|20q12|TGM3|P|Transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyl|transferase)|600238|Psh, A|||||||| 20.46|5|27|94|20q12-q13|PI3|P|Protease inhibitor 3, skin derived (SKALP)||182257|REa, A|||||||| 20.47|12|19|96|20q12-q13|SDC4|P|Syndecan 4 (amphiglycan, ryudocan)||600017|A, H||||||2(Sdc4)|| 20.48|12|24|89|20q12-q13|SRC, ASV, SRC1|C|Protooncogene SRC, Rous sarcoma||190090|REa, A, REb|?20q11.2|||||2(Src)|| 20.49|7|12|94|20q12-q13.1|PLCG1, PLC1|C|Phospholipase C, gamma 1 (formerly subtype 148)||172420|REa, A, Fd|||||||| 20.50|2|18|96|20q12-q13.1|PLTP|C|Phospholipid transfer protein||172425|REa, A||||||2(Pltp)|| 20.51|12|10|91|20q12-q13.1|RPN2|C|Ribophorin II||180490|REa, A||||||2(Rpn2)|| 20.52|7|13|93|20q12-q13.1|SEMG1, SEMG|C|Semenogelin||182140|A, REn|||||||| 20.53|7|13|93|20q12-q13.1|SEMG2|P|Semenogelin II||182141|REn|||||||| 20.54|2|24|97|20q12-q13.1|TCF14, HNF4A, MODY1|C|Transcription factor 14, hepatic nuclear factor (HNF4)||600281|Fd, A|||MODY, type 1, 125850 (3)|||2(Hnf4a)|| 20.55|6|11|92|20q12-q13.1|TOP1|C|Topoisomerase (DNA) I||126420|REa, A|pseudogenes on chr.1 and 22|||||2(Top1)|| 20.56|10|15|94|20q12-q13.2|CD40|C|CD40 antigen||109535|A, D||||||2(Cd40)|| 20.57|9|2|96|20q13|CAS|P|Cellular apoptosis susceptibility||601342|A|||||||| 20.58|3|28|90|20q13|ZNF8|P|Zinc finger protein-8||194532|A|||||||| 20.59|9|12|92|20q13.1|CEBPB, TCF5|C|CCAAT/enhancer-binding protein (C/EBP), beta (transcription factor-5)||189965|REa, A||||||2(Cebpb)|| 20.60|2|3|97|20q13.1|EYA2|P|Eyes absent, drosophila, human homolog of, 2||601654|A, R||||||2(Eya2)|| 20.61|9|23|96|20q13.1|MYBL2, BMYB|P|v-myb avian myeloblastosis viral oncogene homolog-like 2||601415|A||||||2(Mybl2)|| 20.62|11|18|96|20q13.1|PPGB, GSL, NGBE, GLB2, CTSA|C|Protective protein for beta-galactosidase (cathepsin A)||256540|S, A, Fd|||Galactosialidosis (3)|||2(Ppgb)|| 20.63|9|28|96|20q13.1|YWHAB|P|Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation|protein, beta polypeptide|601289|A|||||||| 20.64|1|6|93|20q13.1-q13.2|PTPN1, PTP1B|P|Protein tyrosine phosphatase, non-receptor type, 1||176885|REa, A|20pter-q12 by REa||||||| 20.65|4|25|93|20q13.11|ADA|C|Adenosine deaminase||102700|S, D, REa, F, A, Fd|||Severe combined immunodeficiency due to ADA deficiency (3);|Hemolytic anemia due to ADA excess (1)||2(Ada)|| 20.66|7|13|95|20q13.2|GNAS1, GNAS, GPSA|C|Guanine nucleotide-binding protein (G protein), alpha-stimulating|activity polypeptide-1|139320|REa, H, A, Fd|||Pseudohypoparathyroidism, type Ia, 103580 (3); McCune-Albright|polyostotic fibrous dysplasia, 174800 (3); Somatotrophinoma (3);|Pituitary ACTH secreting adenoma (3)|2(Gnas)|| 20.67|3|27|95|20q13.2|KCNB1|P|Potassium voltage-gated channel, Shab-related subfamily, member 1||600397|A, Fd||||||2(Kcnb1)|| 20.68|10|15|94|20q13.2|MC3R|C|Melanocortin-3 receptor||155540|A||||||2(Mc3r)|| 20.69|1|26|97|20q13.2|TFAP2C|P|Transcription factor AP-2 gamma (activating enhancer-binding protein|2 gamma)|601602|A||||||2(Tfap2c)|| 20.70|10|11|95|20q13.2-q13.3|CHRNA4, EBN1|C|Cholinergic receptor, nicotinic, alpha polypeptide-4||118504|REa, REn, A, Fd|||Epilepsy, benign neonatal, type 1, 121200 (3); Epilepsy, nocturnal|frontal lobe, 600513 (3)||2(Acra4)|| 20.71|10|15|94|20q13.2-q13.3|CYP24|P|Cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)||600125|A||||||2(Cyp24)|| 20.72|4|23|96|20q13.2-q13.3|EDN3|C|Endothelin-3||131242|REa, A|||Shah-Waardenburg syndrome, 277580 (3)|||2(Edn3)|| 20.73|3|15|92|20q13.2-q13.3|EEGV1, EEGL|P|Electro-encephalographic variant pattern-1||130180|Fd|||||||| 20.74|2|14|97|20q13.2-q13.3|NFATC2, NFATP|P|Nuclear factor of activated T-cells, cytoplasmic 2||600490|REa, A||||||2(Nfatp)|| 20.75|2|18|96|20q13.3|COL9A3|P|Collagen, type IX, alpha 3||120270|Fd|||||||| 20.76|8|11|91|20q13.3|CST1|C|Cystatin SN||123855|REa, A|||||||| 20.77|8|11|91|20q13.3|CST2|C|Cystatin SA||123856|REa, A|||||||| 20.78|9|14|95|20q13.3|GPR8|P|G protein-coupled receptor 8||600731|A|related sequence on 14||||||| 20.79|4|25|93|20q13.31|PCK1|C|Phosphoenolpyruvate carboxykinase-1 (soluble)||261680|REa, A, Fd|||?Hypoglycemia due to PCK1 deficiency (1)|||2(Pck1)|| 20.80|6|14|94|Chr.20|ADRA1A|C|Adrenergic, alpha-1A-, receptor||104219|A|incorrectly assigned to 5q|||||11(Adra1a)|same as ADRA1D?| 20.81|2|11|93|Chr.20|BMP7|P|Bone morphogenetic protein-7 (osteogenic protein-1)||112267|REa, H|?in 20q13.1-q13.3|||||2(Bmp7)|| 20.82|10|23|87|Chr.20|DCE|P|Desmosterol-to-cholesterol enzyme||125650|S|||||||| 20.83|11|22|94|Chr.20|EIF4EL2|P|Eukaryotic translation initiation factor 4E-like 2||600200|REc|||||||| 20.84|10|23|87|Chr.20|HTL, LEUT, HLT|P|Leucine transport, high||151310|S|||||||| 21.1|4|26|90|21p12|RNR4|C|Ribosomal RNA-4||180453|A|||||||| 21.2|3|5|96|21q11.1|STCH|P|Stress 70 protein chaperone, microsome-associated, p60||601100|A|||||||| 21.3|3|26|96|21q11.2|TAM, MST|P|Myeloproliferative syndrome, transient (transient abnormal|myelopoiesis)|159595|Ch|||Leukemia, transient, of Down syndrome (2)||||| 21.4|8|22|95|21q21|PRSS7, ENTK|P|Protease, serine, 7 (enterokinase)||226200|A|||Enterokinase deficiency (1)||||| 21.5|10|17|95|21q21-q22.1|GABPA, E4TF1A|C|GA-binding protein transcription factor, alpha subunit (60kD)||600609|A, REn, Psh, REc|||||||| 21.6|1|7|93|21q21.3-q22.05|APP, AAA, CVAP, AD1|C|Amyloid beta (A4) precursor protein||104760|REa, A, Fd, RE|proximal to SOD; very distal q21 or boundary with q22||Amyloidosis, cerebroarterial, Dutch type (3); Alzheimer disease-1,|APP-related (3); Schizophrenia, chronic (3)||16(App)|Schellenberg (1991); Jones (1992)| 21.7|3|1|94|21q22|GRIK1, GLUR5|C|Glutamate receptor, ionotropic, kainate 1||138245|REc, REa, A, Fd||||||16(Glur5)|| 21.8|3|27|95|21q22|SLC5A3|P|Solute carrier family 5 (inositol transporter), member 3||600444|A|?role in Down syndrome||||||| 21.9|7|13|93|21q22.1|CRFB4|P|Cytokine receptor, family II, member 4||123889|Fd, REn|35kb distal to IFNAR; D21S58|||||16(Crfb4)|| 21.10|6|3|94|21q22.1|GART, PRGS, PGFT|C|Phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide|synthetase; phosphoribosylaminoimidazole synthetase|138440|S, H, REa|multifunctional protein: Ade(-)C, Ade(-)G, GART|||||16(Prgs)|| 21.11|11|17|94|21q22.1|HCS|P|Holocarbyoxylase synthetase||253270|Psh, A|||Multiple carboxylase deficiency, biotin-responsive (3)||||| 21.12|8|11|91|21q22.1|IFNAR|C|Interferon (alpha and beta), receptor for||107450|S, D, A, REn||||||16(Ifrc)|| 21.13|10|22|95|21q22.1|KCNJ7, GIRK2|P|Potassium inwardly-rectifying channel, subfamily J, member||600854|A||||||16(Girk2, wv)|| 21.14|12|16|93|21q22.1|SOD1, ALS1|C|Superoxide dismutase-1, soluble||147450|S, D, Fd|mid q22.1||Amytrophic lateral sclerosis, due to SOD1 deficiency, 105400 (3)|||16(Sod1)|| 21.15|2|15|96|21q22.1|TIAM1|P|T-cell lymphoma invasion and metastasis 1||600687|REc, H||||||16(Tiam1)|| 21.16|12|13|95|21q22.1-q22.2|ATP5O|P|ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit|(oligomycin sensitivity conferring protein)|600828|REa, A|||||||| 21.17|9|15|96|21q22.1-q22.2|FPDMM|P|Platelet disorder, familial, with associated myeloid malignancy||601399|Fd|||Platelet disorder, familial, with associated myeloid malignancy (2)||||| 21.18|11|14|90|21q22.1-q22.2|IFNGT1, IFGR2|C|Interferon, gamma, receptor-2||147569|S, A||||||16(Ifgr2)|| 21.19|4|25|93|21q22.1-q22.2|KCNE1|C|Potassium voltage-gated channel, Isk-related subfamily, member 1||176261|REa, A, Psh|||||||| 21.20|10|22|95|21q22.1-q22.2|KCNJ6|P|Potassium inwardly-rectifying channel, subfamily J, member 6||600877|Psh, A|||||||| 21.21|2|24|97|21q22.1|MNBH, MNB, DYRK|C|\'minibrain\' (Drosophila) homolog (dual specificity tyrosine|phosphorylation regulated kinase)|600855|REn, H, REc||||||16(mmb)|| 21.22|8|29|96|21q22.1-q22.2|SON|P|SON DNA-binding protein||182465|Psh|||||||| 21.23|4|25|93|21q22.12|CBR|C|Carbonyl reductase||114830|REa, Fd, A||||||16(Cbr1)|| 21.24|9|12|96|21q22.2|CAF1A|P|Chromatin assembly factor I, p60 subunit||601245|REn, Psh|||||||| 21.25|4|9|96|21q22.2|SIM, SIM2|P|Single-minded (Drosophila) homolog||600892|REc|||||||| 21.26|3|28|90|21q22.2-q22.3|S100B|C|S100 calcium-binding protein, beta (neural)||176990|REa, A||||||10(S100b)|| 21.27|1|12|95|21q22.3|APECED|P|Autoimmune polyglandular disease, type I||240300|240300|Fd||Autoimmune polyglandular disease, type I (2)||||| 21.28|10|15|96|21q22.3|TFF1, BCE1|C|Trefoil factor 1 (breast cancer, estrogen-inducible sequence|expressed in)|113710|REa, A, Fd|||||||| 21.29|1|20|95|21q22.3|CBFA2, AML1|C|Core-binding factor, runt domain, alpha subunit (aml1 oncogene)||151385|Ch, Fd|||Leukemia, acute myeloid (3)||||| 21.30|4|25|93|21q22.3|CBS|C|Cystathionine beta-synthase||236200|S, D, A, Fd|subtelomeric||Homocystinuria, B6-responsive and nonresponsive types (3)|||17(Cbs)|| 21.31|10|22|96|21q22.3|COL6A1|C|Collagen VI, alpha-1 polypeptide||120220|REa, A, REn, Fd|||Bethlem myopathy, 158810 (3)|||10(Col6a1)|| 21.32|10|22|96|21q22.3|COL6A2|C|Collagen VI, alpha-2 polypeptide||120240|REa, A, REn, Fd|||Bethlem myopathy, 158810 (3)|||10(Col6a2)|| 21.33|3|20|94|21q22.3|COL18A1|P|Collagen, type XVIII, alpha 1||120328|A||||||10(Col18a1)|| 21.34|3|18|91|21q22.3|CRYA1|C|Crystallin, alpha polypeptide 1||123580|REa, A, RE, Fd||||||17(Crya1)|| 21.35|2|19|96|21q22.3|DFNB8|P|Deafness, autosomal recessive 8||601072|Fd|||Deafness, autosomal recessive 8 (2)||||| 21.36|9|16|96|21q22.3|DCR, DSCR|C|Down syndrome chromosome region||190685|Ch|||Down syndrome (1)||||| 21.37|10|15|94|21q22.3|ERG|C|Erythroblastosis virus E26, avian, (v-ets) oncogene related||165080|REa, Fd, A|fused with EWS in Ewing sarcoma, with FUS in leukemia||||||| 21.38|3|18|91|21q22.3|ETS2|C|Oncogene ETS-2||164740|REa, A, Fd|proximal q22.3|||||16(Ets2)|| 21.39|2|20|97|21q22.3|GT335|P|GT335 gene||601659|REc|||||||| 21.40|7|9|90|21q22.3|HMG14|C|Nonhistone chromosomal protein HMG-14||163920|REa, Fd, A|||||||| 21.41|4|9|96|21q22.3|HPE1|P|Holoprosencephaly-1, alobar||236100|Ch, REa|||Holoprosencephaly-1 (2)||||Johnson (1976); Munke (1988)| 21.42|1|23|96|21q22.3|ITGB2, CD18, LCAMB, LAD|C|Integrin, beta-2 (antigen CD18 (p95), lymphocyte function-associated|antigen-1; macrophage antigen, beta polypeptide)|600065|S, A, Fd|common subunit for CR3, LFA1, and P150,95||Leukocyte adhesion deficiency, 116920 (3)|||7(Ly15)|| 21.43|1|26|97|21q22.3|KNO, KS|P|Knobloch syndrome||267750|Fd|||Knobloch syndrome (2)||||| 21.44|4|24|96|21q22.3|LSS|P|Lanosterol synthase||600909|REa, REc|||||||| 21.45|3|18|91|21q22.3|MX1, MX, IFI78|C|Myxovirus (influenza) resistance-1 (interferon induced protein p78)||147150|REa, D, Fd||||||16(Mx1)|| 21.46|9|22|96|21q22.3|PCNT|P|Pericentrin||170285|Psh, A|distal to PFKL||||||| 21.47|3|18|91|21q22.3|PFKL|C|Phosphofructokinase, liver type||171860|S, D, Fd|||Hemolytic anemia due to phosphofructokinase deficiency (1)|||17(Pfkl)|| 21.48|1|26|97|21q22.3|PWP2H|P|PWP2 (periodic tryptophan protein, yeast) homolog||601475|RE|||||||| 21.49|10|17|95|21q22.3|SLC19A1, FOLT|P|Solute carrier family 19 (folate transporter), member 1||600424|REa, A|||||||| 21.50|8|21|92|21q22.3|SML1|C|Spasmolytic protein-1||182590|A, REn, REa|within 230kb of BCEI||||||| 21.51|3|31|97|21q22.3|STFB, CSTB, EPM1|P|Stefin B (cystatin B)||601145|REn|||Epilepsy, progressive myoclonic 1, 254800 (3)||||| 21.52|4|9|96|21q22.3|TFF3, ITF|C|Trefoil factor 3 (intestinal)||600633|Psh, A, REn||||||17(Tff3)|| 21.53|9|28|96|21q22.3|U2AF1|P|U2(RNU2) small nuclear RNA auxillary factor 1||191317|A, REa|||||||| 21.54|10|23|87|Chr.21|AABT|L|Beta-amino acids, renal transport of||109660|D|||||||| 21.55|10|23|87|Chr.21|BAS|L|Beta-adrenergic stimulation, response to||109670|D|||||||| 21.56|11|14|91|Chr.21|HSPA3|P|Heat shock 70kD protein-3||140570|REa, A|||||||| 21.57|10|23|87|Chr.21|HTOR|L|5-hydroxytryptamine oxygenase regulator||143460|D|||||||| 21.58|1|12|89|Chr.21|MX2|L|Myxovirus (influenza) resistance-2||147890|REa||||||16(Mx2)|| 21.59|6|20|94|Chr.21|VDAC2|P|Voltage-dependent anion channel 2||193245|Psh|||||||| 22.1|6|20|94|22pter-q11.2|ATP6E|P|ATPase, H+ transporting, lysosomal (vacuolar proton pump) 31kD||108746|REa|||||||| 22.2|3|6|92|22pter-q13|XBP2|P|X-box-binding protein-2||194355|REa|pseudogene on chr.5||||||| 22.3|4|26|90|22p12|RNR5|C|Ribosomal RNA-5||180454|A|||||||| 22.4|8|20|92|22p|ZNF72|P|Zinc finger protein-72 (Cos8)||194546|REa|||||||| 22.5|8|20|92|22p|ZNF73|P|Zinc finger protein-73 (Cos12)||194547|REa|||||||| 22.6|12|20|96|22q|CCA2|P|Cataract, congenital, cerulean type, 2||601547|Fd|||Cataract, congenital, cerulean type 2 (2)||||| 22.7|11|27|94|22q11|ADRBK2, BARK2|P|Adrenergic, beta, receptor kinase 2||109636|A|||||||| 22.8|10|23|87|22q11|CECR, CES|C|Cat eye syndrome||115470|Ch, A, D|partial tetrasomy of 22q11||Cat eye syndrome (2)||||| 22.9|1|27|97|22q11|CLTD|P|Clathrin, heavy polypeptide D||601273|RE|||||||| 22.10|1|7|93|22q11|CTHM|L|Conotruncal cardiac anomalies||217095|D|||?Conotruncal cardiac anomalies (2)||||| 22.11|3|20|94|22q11|DGCR, DGS, VCF|C|DiGeorge syndrome chromosome region (velocardiofacial syndrome)||188400|Ch, D|||DiGeorge syndrome (2); Velocardiofacial syndrome, 192430 (2)||||Scambler (1991); Budarf (1992)| 22.12|1|17|97|22q11|DGCR2, IDD|P|DiGeorge critical region gene 2 (integral membrane protein deleted|in DiGeorge syndrome)|600594|Ch|||||||| 22.13|8|15|96|22q11|DVL, DVL1|P|Dishevelled, drosophila, homolog-like||601225|Ch, REc|||||||| 22.14|8|11|91|22q11|HCF2, HC2|C|Heparin cofactor II||142360|REb, REa|proximal to BCR||Thrombophilia due to heparin cofactor II deficiency (3)||||| 22.15|1|17|95|22q11|NAGA|C|Acetylgalactosaminidase, alpha-N- (alpha-galactosidase B)||104170|S, Ch|proximal to Ph1 break||Schindler disease (3); Kanzaki disease (3)||||| 22.16|1|8|97|22q11|RDT|P|Rhabdoid tumors||601607|Ch|||Rhabdoid tumors (2)||||| 22.17|10|17|95|22q11|SCZD3|P|Schizophrenia susceptibility-3||600511|D, Fd|||{Schizophrenia susceptibility-3} (2)||||| 22.18|9|15|96|22q11|SLC20A3, CTP|C|Solute carrier family 20 (mitochondrial citrate transporter), member 3||190315|REc, Psh, A|||||||| 22.19|1|12|95|22q11|TUPLE1, HIRA|P|Tup-like enhancer of split 1||600237|A|?role in CATCH22|||||16(Tuple1)|| 22.20|2|9|92|22q11-q12|LRE1, L1.2|C|Line-1.2 retrotransposable element||151626|REa, A|||||||| 22.21|9|9|90|22q11-q13|G22P1|C|Thyroid autoantigen 70kD (Ku antigen)||152690|REa, F|tight linkage to CYP2D|||||15(Ku70)|| 22.22|2|12|97|22q11-q13|SCZD4|P|Schizophrenia disorder 4||600850|Fd|||Schizophrenia disorder-4 (2)||||| 22.23|5|24|90|22q11.1-q11.2|GGT1, GTG|C|Gamma-glutamyltransferase-1||231950|A, S, F, RE|minor peak, q13.1||Glutathioninuria (1)||||| 22.24|7|13|95|22q11.1-q11.2|LZTR1|P|Leucine-zipper-like regulator-1||600574|RE|||||||| 22.25|6|29|94|22q11.12|GGT2|P|Gamma-glutamyltransferase-2||137181|REn|||[Gamma-glutamyltransferase, familial high serum] (2)||||| 22.26|10|23|87|22q11.12|IGL@|C|IMMUNOGLOBULIN LAMBDA LIGHT CHAIN GENE CLUSTER|||REa, A|on Ph1 chr.; order 5' to 3':cen-V-C-ter||||||| 22.27|10|23|87|22q11.12|IGLV|C|Variable region of lambda light chains||147240|REa, A|many genes||||||| 22.28|10|23|87|22q11.12|IGLJ|C|J region of lambda light chains||147230|REa, A|nine J-C duplexes||||||| 22.29|10|23|87|22q11.12|IGLC1, IGLC|C|Constant region of lambda light chains||147220|REa, A|several genes|||||16(Igl1)|| 22.30|9|28|93|22q11.2|COMT|C|Catechol-O-methyltransferase||116790|S, D, A, REn||||||16(Comt)|| 22.31|4|21|97|22q11.2|DGSI|P|DiGeorge syndrome critical region gene DGSI||601755|REc||||||16(Dgsi)|| 22.32|9|13|92|22q11.2|GNAZ|C|Guanine nucleotide-binding protein (G protein), alpha z polypeptide||139160|REa, A||||||10(Gnaz)|| 22.33|7|13|95|22q11.2|GP1BB|C|Glycoprotein Ib (platelet), beta polypeptide||138720|REa, D|||Bernard-Soulier syndrome, type B (2)||||| 22.34|3|27|95|22q11.2|GSTT2|P|Glutathione S-transferase theta 2||600437|REa, A|||||||| 22.35|7|13|94|22q11.2|MMP11, STMY3|P|Matrix metalloproteinase 11 (stromelysin 3)||185261|REa, A|||||||| 22.36|4|25|93|22q11.2|MYH9|C|Myosin, heavy polypeptide-9, nonmuscle||160775|REa, A|||||||| 22.37|3|5|96|22q11.2|OGS2, BBBG2, GBBB2|C|Opitz G syndrome, type II||145410|Ch|type I X-linked||Opitz G syndrome, type II (2)||||| 22.38|4|11|97|22q11.2|PRKM1, ERK2, MAPK1|P|Protein kinase, mitogen-activated 1 (MAP kinase 1; p40, p41)||176948|A, H||||||16(Prkm1)|| 22.39|4|21|97|22q11.2|UFD1L|P|Ubiquitin fusion degradation 1-like||601754|REc|?role in CATCH22||||||| 22.40|8|20|92|22q11.2|ZNF69|P|Zinc finger protein-69 (Cos5)||194543|REa|||||||| 22.41|8|20|92|22q11.2|ZNF70|P|Zinc finger protein-70 (Cos17)||194544|REa|||||||| 22.42|8|20|92|22q11.2|ZNF71|P|Zinc finger protein-71 (Cos26)||194545|REa|||||||| 22.43|8|20|92|22q11.2|ZNF74|P|Zinc finger protein-74 (Cos52)||194548|REa|||||||| 22.44|11|9|95|22q11.2-q12.1|CRYBB1|P|Crystallin, beta B1||600929|REc||||||5(Crybb1)|| 22.45|4|10|90|22q11.2-q12.2|CRYB2|C|Crystallin, beta polypeptide 2||123620|REa, A|2nd CRYB2 gene in same region|||||5(Crybb2)|| 22.46|4|10|90|22q11.2-q12.2|CRYB3|C|Crystallin, beta polypeptide 3||123630|RE||||||5(Crybb3)|| 22.47|2|9|92|22q11.2-q13|IL2RB|C|Interleukin-2 receptor, beta polypeptide||146710|REa, A, Fd, H||||||15(Il2rb)|| 22.48|10|23|87|22q11.2-q13|MB|C|Myoglobin||160000|REa, Fd|||||||| 22.49|1|24|93|22q11.2-q13.1|CRYBA4|P|Crystallin, beta polypeptide A4||123631|REa|||||||| 22.50|10|23|87|22q11.2-qter|P1|P|P1 blood group||111410|F, Fd|?linked to DIA1 and SIS||||||| 22.51|10|23|87|22q11.2-qter|TCN2, TC2|C|Transcobalamin II||275350|F, S, D|linked to P1||Transcobalamin II deficiency (3)|||11(Tcn2)|| 22.52|3|22|93|22q11.21|BCR, CML, PHL|C|Breakpoint cluster region||151410|Ch, RE|distal to IGL; Ph1=t(9;22) (q34.1;q11.21); fusion gene with ABL|in CML; cluster of 4 loci: cen-BCR2, BCR4, IGL-BCR1-BCR3-SIS|Leukemia, chronic myeloid (3)|||10(Bcr)|10(Bcr)| 22.53|3|15|92|22q11.21|BCRL2|P|Breakpoint cluster region-like 2||113630|Ch, RE|||||||| 22.54|3|15|92|22q11.21|BCRL3|P|Breakpoint cluster region-like 3||113640|Ch, RE|||||||| 22.55|3|15|92|22q11.21|BCRL4|P|Breakpoint cluster region-like 4||113660|Ch, RE|||||||| 22.56|3|18|91|22q11.21|VPREB1, IGI|C|Pre-B lymphocyte-specific protein (immunoglobulin iota polypeptide)||146770|REa, Ch|between BCR2 and BCR4; distal to IGLC||||||| 22.57|4|30|91|22q11.21|VPREB2|P|Pre-B lymphocyte-specific protein-2||146771|REa, Ch|distal to CML breakpoint||||||| 22.58|10|23|87|22q11.21-q13.31|ACO2|C|Aconitase, mitochondrial||100850|S, Ch|distal to Ph1 break||||||| 22.59|11|13|94|22q12|ADTB1, BAM22|P|Adaptin, beta (meningioma candidate)||600157|D|||||||| 22.60|1|24|93|22q12|EWSCR, EWS|C|Ewing sarcoma breakpoint region-1||133450|Ch|t(11;22)(q24;q12); t(21;22)(q22;q12)||Ewing sarcoma (3); Neuroepithelioma (2)||||| 22.61|5|31|94|22q12|HMOX1|C|Heme oxygenase (decycling) 1||141250|Psh, A|||||||| 22.62|9|28|96|22q12|YWHAH, YWHA1|C|Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation|protein, eta polypeptide 22|113508|REb, A|||||||| 22.63|10|22|95|22q12-q13|CSNK1E|P|Casein kinase 1, epsilon||600863|A|||||||| 22.64|4|25|93|22q12-q13.1|LGALS1|C|Lectin, galactose-binding, soluble-1||150570|A||||||15(Lgals1)|| 22.65|3|18|91|22q12-q13.1|PVALB|C|Parvalbumin||168890|REa, D, H|?role in DiGeorge syndrome|||||15(Pva)|| 22.66|9|28|93|22q12.1-q12.2|LIF, HILDA|C|Leukemia inhibitory factor (cholinergic differentiation factor)||159540|REa, A, RE|distal to ES|||||11(Lif)|| 22.67|9|28|93|22q12.1-q12.2|OSM|C|Oncostatin M||165095|REa, REn|10kb from LIF||||||| 22.68|1|12|95|22q12.1-q13.2|TIMP3, SFD|C|Tissue inhibitor of metalloproteinase-3||188826|REa, A, Fd|||Sorsby fundus dystrophy, 136900 (3)||||| 22.69|9|28|93|22q12.2|NEFH|C|Neurofilament, heavy polypeptide||162230|A, RE, D||||||11(Nfh)|| 22.70|4|11|94|22q12.2|NF2|C|Neurofibromatosis-2 (bilateral acoustic neuroma)||101000|RE, F, Ch, D, Fd|loss of heterozygosity||Neurofibromatosis, type 2 (3); Meningioma, NF2-related (3);|Schwannoma, sporadic (3)||11(Nf2)|Arai (1992); Narod (1992)| 22.71|1|24|93|22q12.2-q13.1|CSF2RB|P|Colony-stimulating factor-2 receptor, beta, low-affinity||138981|Psh, A|||||||| 22.72|2|20|97|22q12.3-q13.1|PDGFB, SIS|C|Platelet-derived growth factor, beta polypeptide (oncogene SIS)||190040|REa, Fd|||Meningioma, SIS-related (3); Dermatofibrosarcoma protuberans (3);|Giant-cell fibroblastoma (3)||15(Pdgfb)|| 22.73|8|11|91|22q13|ECGF1|P|Endothelial cell growth factor-1, platelet-derived||131222|REa, A|||||||| 22.74|3|20|94|22q13|GAD3|L|Glutamate decarboxylase-3||138276|A|data retracted|||||15(Gad3)|| 22.75|1|10|96|22q13|SREBF2|P|Sterol regulatory element binding transcription factor 2||600481|REa, A|||||||| 22.76|11|17|94|22q13|TEF|P|Thyrotroph embryonic factor||188595|A||||||15(Tef)|| 22.77|6|5|90|22q13-qter|ACR|P|Acrosin||102480|REa|||?Male infertility due to acrosin deficiency (2)|||15(Acr)|| 22.78|1|17|95|22q13.1|ADSL|C|Adenylosuccinate lyase||103050|S, REa, A|ade(-)I; bifunctional||Adenylosuccinase deficiency (1); Autism, succinylpurinemic (3)||||Jaeken (1988); Stone (1992)| 22.79|4|25|93|22q13.1|CYP2D@, CYP2D, P450C2D|C|Cytochrome P450, subfamily IID||124030|F, Fd, Psh, A|debrisoquine 4-hydroxylase; includes CYP2D6, CYP2D7 closely linked||{?Parkinsonism, susceptibility to} (1); Debrisoquine sensitivity|(3)||15(Cyp2d)|| 22.80|11|22|93|22q13.1|H1FV, H1F0|P|H1-0 histone||142708|Psh, A|||||||| 22.81|5|18|95|22q13.1|KCNJ4, HIR|P|Potassium inwardly-rectifying channel, subfamily J, member 4||600504|Psh, A|||||||| 22.82|11|8|96|22q13.1|NCF4, P40PHOX|P|Neutrophil cytosolic factor-4||601488|Psh, A|||||||| 22.83|12|9|95|22q13.1|SLC5A1, SGLT1|C|Solute carrier family 5 (sodium/glucose transporter), member 1||182380|REa|||Glucose/galactose malabsorption (3)||||| 22.84|4|25|93|22q13.1|SSTR3|C|Somatostatin receptor-3||182453|REa|||||||| 22.85|6|29|94|22q13.1-qter|SFD|P|Sorsby fundus dystrophy||136900|Fd|||Sorsby fundus dystrophy (2)||||| 22.86|5|18|95|22q13.3|FBLN1|C|Fibulin 1||135820|A||||||15(Fbln1)|| 22.87|9|28|93|22q13.31|BZRP|C|Benzodiazepine receptor, peripheral type (benzodiazepine peripheral|binding site)|109610|A||||||15(Bzrp)|| 22.88|10|23|87|22q13.31-qter|ARSA|C|Arylsulfatase A||250100|S, D|||Metachromatic leukodystrophy (3)|||15(As2)|| 22.89|7|13|95|22q13.31-qter|DIA1|C|Diaphorase (NADH); cytochrome b-5 reductase||250800|S, REa|||Methemoglobinemia, type I (3); Methemoglobinemia, type II (3);|Methemoglobinemia, type III (3)||15(Dia1)|| 22.90|10|16|94|Chr.22|ADORA2A|P|Adenosine A2a receptor||102776|REa, REl|incorrectly assigned to 11q||||||| 22.91|6|16|89|Chr.22|MSK41|P|Antigen MSK41 identified by monoclonal antibody E3||107260|S|||||||| 23.1|7|9|90|Xpter-p22.32|ARSC2|L|Arylsulfatase C, f form||301780|D|probably close to STS = ARSC1, or s form||||||| 23.2|4|25|93|Xpter-p22.32|ASMT, HIOMT|P|Acetylserotonin methyltransferase||300015|REa, Fd|pseudoautosomal||||||| 23.3|1|13|93|Xpter-p22.32|GCFX, SS|P|Growth control factor, X-linked||312865|Fd|||Short stature (2)||||Henke (1991); Ogata (1992)| 23.4|10|23|87|Xpter-p22.32|MIC2, MIC2X, CD99|C|MIC2 (monoclonal antibody 12E7)||313470|S, A, D|distal to STS||||||| 23.5|10|23|87|Xpter-p22.32|XG|C|Xg blood group||314700|F, D|nonlyonizing; spans pseudoautosomal boundary||||||| 23.6|3|5|96|Xpter-p22.2|CFND|P|Craniofrontonasal dysplasia||304110|Ch, REc, Fd|||Craniofrontonasal dysplasia (2)||||McPherson (1991)| 23.7|4|25|93|Xp22.32|ANT3|C|Adenine nucleotide translocator-3 (liver)||300151|Pcm, REc, REn|1st intron ~1.3Mb from Xqter; nonlyonized||||||| 23.8|10|21|92|Xp22.32|CSF2RA|C|Colony-stimulating factor-2 receptor, alpha, low-affinity|(granulocyte-macrophage)|306250|A|order in PAR: pter-CSF2RA-IL3RA-ANT3-ASMT-MIC2-cen||Leukemia, acute myeloid, M2 type (1)|||19(Csf2ra)|| 23.9|8|27|92|Xp22.32|DXF68S1E, GS1|P|DNA segment, numerous copies, expressed probes (GS1 gene)||306480|REn|escapes X-inactivation; 100kb telomeric to STS||||||| 23.10|4|25|93|Xp22.32|DXYS155E, XE7|P|DNA segment, single copy, homologous on X and Y, expressed probes|XE7-6, XE7-15, XE7-34, XE7-22, cXE7-6|312095|REn|nonlyonizing||||||| 23.11|7|5|92|Xp22.32|STS, ARSC1, SSDD|C|Steroid sulfatase, microsomal||308100|F, S, D|nonlyonizing||Ichthyosis, X-linked (3); Placental steroid sulfatase deficiency (3)|||X,Y(Sts)|| 23.12|10|12|90|Xp22.32|XGR|P|XG/MIC2 regulator||314705|F|?between XG and MIC2||||||| 23.13|10|19|88|Xp22.31|DHOF, FODH|P|Dermal hypoplasia, focal||305600|Ch|||Focal dermal hypoplasia (2)||||| 23.14|9|1|95|Xp22.31|MLS, MIDAS|P|Microphthalmia with linear skin defects||309801|Ch|||Microphthalmia with linear skin defects (2); Microphthalmia, dermal|aplasia, and sclerocornea (2)|||Al-Gazali (1990); Temple (1990)| 23.15|6|13|95|Xp22.3|APXL|P|Apical protein, Xenopus laevis-like||600569|REn||||||X(Apxl)|| 23.16|5|18|95|Xp22.3|ARSE, CDPX1, CDPXR|C|Arylsulfatase E||302950|D, Fd|CDPX1 in contiguous gene syndrome with STS||Chondrodysplasia punctata, X-linked recessive, 302940 (3)||||Agematsu (1988); Wulfsberg (1992)| 23.17|2|14|97|Xp22.3|ARSD|P|Arylsulfatase D||300002|REn|||||||| 23.18|2|14|97|Xp22.3|ARSF|P|Arylsulfatase F||300003|REn|||||||| 23.19|1|12|95|Xp22.3|CLCN4|P|Chloride channel 4||302910|RE|||||||| 23.20|10|23|87|Xp22.3|HYR|P|H-Y regulator, or repressor||306970|Ch|structural HY locus on chr.6, 143170||||||| 23.21|10|4|93|Xp22.3|IL3RA|C|Interleukin-3 receptor, alpha subunit||308385|REa, A, REn|same 190kb segment as CSF2RA|||||14(Il3ra)|| 23.22|1|25|95|Xp22.3|KAL1, KMS, ADMLX|C|Kallmann syndrome-1 sequence||308700|F, Fd, D, REa, REn|with ichthyosis in probable microdeletion syndrome||Kallmann syndrome (3)||||Legouis (1991); Hardelin (1992)| 23.23|12|24|89|Xp22.3|OA1|C|Ocular albinism-1, Nettleship-Falls type||300500|F, Fd|linked to XG||Ocular albinism, Nettleship-Falls type (3)|||X(Oa1)|| 23.24|12|16|93|Xp22.3|OASD|P|Ocular albinism and sensorineural deafness||300650|Fd|?allelic to OA1||Ocular albinism with sensorineural deafness (2)||||| 23.25|12|4|90|Xp22.3-p22.2|PRPS2|C|Phosphoribosyl pyrophosphate synthetase 2||311860|REa, A|between STS and ZFX||||||| 23.26|3|8|92|Xp22.3-p22.1|AMELX, AMG, AIH1, AMGX|C|Amelogenin||301200|REa, A, Fd|also Y||Amelogenesis imperfecta (3)|||X(Amel)|| 23.27|9|28|93|Xp22.3-p21.2|GRPR|C|Gastrin-releasing peptide receptor||305670|Psh|||||||| 23.28|1|3|91|Xp22.3-p21.1|NHS|C|Nance-Horan cataract-dental syndrome||302350|Fd|||Nance-Horan syndrome (2)|||?X(Xcat)|| 23.29|1|25|91|Xp22.3-p21.1|POLA|C|Polymerase (DNA directed), alpha||312040|S|proximal to ZFX||?N syndrome, 310465 (1)|||X(Pola)|| 23.30|12|4|90|Xp22.3-p22.1|RS|C|Retinoschisis||312700|F, Fd|25cM from XG||Retinoschisis (2)||||| 23.31|7|27|95|Xp22.2|BMX|P|BMX non-receptor tyrosine kinase||600612|A|||||||| 23.32|1|10|92|Xp22.2|CMTX2|P|Charcot-Marie-Tooth disease, X-linked-2, recessive||302801|Fd|||Charcot-Marie-Tooth neuropathy, X-linked-2, recessive (2)||||| 23.33|1|12|95|Xp22.2|FCPX, FCP|P|F-cell production||305435|F, Fd|||Heterocellular hereditary persistence of fetal hemoglobin, Swiss type|(2)|||| 23.34|9|28|96|Xp22.2|GPM6B, M6B|P|Glycoprotein M6B||300051|A|||||||| 23.35|3|27|95|Xp22.2|HOMG, HSH, HMGX|P|Hypomagnesemia, secondary hypocalcemia||307600|X/A|may be AR, not XR||Hypomagnesemia, X-linked primary (2)||||| 23.36|5|27|93|Xp22.2-p21.3|ZFX|C|Zinc finger protein, X-linked||314980|Ch, REa, Fd||nonlyonizing||||X(Zfx)|| 23.37|12|4|95|Xp22.2-p22.13|KFSD|C|Keratosis follicularis spinulosa decalvans||308800|Fd|||Keratosis follicularis spinulosa decalvans (2)||||| 23.38|2|4|89|Xp22.2-p22.1|CLS|C|Coffin-Lowry syndrome||303600|Fd|distal to DMD||Coffin-Lowry syndrome (2)||||| 23.39|10|23|87|Xp22.2-p22.1|CND|L|Corneal dermoids||304730|Fd|linked to DXS43||||||| 23.40|12|10|95|Xp22.2-p22.1|HYP, HPDR1|C|Hypophosphatemia, vitamin D resistant rickets||307800|Fd|linked to DXS41||Hypophosphatemia, hereditary (3)|||X(Hyp, Gyr)|| 23.41|3|18|91|Xp22.2-p22.1|PDHA1, PHE1A|C|Pyruvate dehydrogenase, E1-alpha polypeptide-1||312170|REa, A, Fd|||Pyruvate dehydrogenase deficiency (3)|||X(Pdha1)|| 23.42|3|31|97|Xp22.2-p22.1|PHKA2, PHK|C|Phosphorylase kinase deficiency, liver (glycogen storage disease|type VIII)|306000|Fd, REa, A|||Glycogenosis, X-linked hepatic, type I (3); Glycogenosis, X-linked|hepatic, type II (3)|||Willems (1991); Hendrickx (1992)| 23.43|1|10|93|Xp22.2-p22.1|PRTS, MRXS1|P|Partington syndrome (mental retardation, X-linked, syndromic-1, with|dystonic movements, ataxia, and seizures)|309510|Fd|linked to DXS41||Mental retardation, X-linked, syndromic-1, with dystonic|movements, ataxia, and seizures (2)|||| 23.44|11|4|93|Xp22.2-p22.1|SEDL, SEDT|C|Spondyloepiphyseal dysplasia, late||313400|Fd|||Spondyloepiphyseal dysplasia tarda (2)||||| 23.45|2|26|96|Xp22.13-p22.11|RP15|P|Retinitis pigmentosa 15||300029|Fd|||Retinitis pigmentosa-15 (2)||||| 23.46|10|16|94|Xp22.11-p21.2|GDXY, TDFX, SRVX|P|Gonadal dysgenesis, XY female type||306100|F, Ch|?same as ZFX||Gonadal dysgenesis, XY female type (2)||||| 23.47|1|8|96|Xp22.1|PIGA|P|Phosphatidylinositol glycan, class A||311770|A|||Paroxysmal nocturnal hemoglobinuria (3)|||X(Piga)|| 23.48|9|28|93|Xp22.1|SAT|P|Spermidine/spermine N1-acetyltransferase||313020|Psh, A|||||||| 23.49|4|10|97|Xp22.1|U2AF1RS2|P|U2 small nuclear ribonucleoprotein auxiliary factor, small subunit 2||300028|A||||||X(U2af1rs2)|| 23.50|10|12|90|Xp22.1-p21.2|GLRA2|P|Glycine receptor, alpha-2 polypeptide||305990|REa, Fd||||||X(Glra2)|| 23.51|3|17|94|Xp22.1-p11|ZNF81|P|Zinc finger protein-81 (HFZ20)||314998|REa|||||||| 23.52|1|25|91|Xp22.1-cen|ZNF41|P|Zinc finger protein-41||314995|REa|||||||| 23.53|12|18|89|Xp22|AGMX2, XLA2, IMD6|P|Agammaglobulinemia, X-linked 2 (with growth hormone deficiency)||300310|Fd|||Agammaglobulinemia, type 2, X-linked (2)|||X(Xid)|| 23.54|10|8|88|Xp22|AIC|C|Aicardi syndrome||304050|X/A, Ch|?in p22.31 with FDH as contiguous gene syndrome||Aicardi syndrome (2)||||Donnenfeld (1989); Naritomi (1992)| 23.55|12|3|96|Xp22|DFN6|P|Deafness, X-linked 6, sensorineural||300066|Fd|||deafness, X-linked 6, sensorineural (2)||||| 23.56|12|17|87|Xp22|GY, HYP2|L|Hereditary hypophosphatemia II (gyro equivalent)||307810|H|close to hyp in mouse||?Hypophosphatemia with deafness (2)|||X(Gy)|| 23.57|9|16|96|Xp22|HCCS|P|Holocytochrome c synthase (cytochrome c heme-lyase)||300056|REc|||||||| 23.58|1|25|91|Xp22|MRX1|C|Mental retardation, X-linked-1, non-dysmorphic||309530|F, Fd, D|?11cM from XG||Mental retardation, X-linked-1, non-dysmorphic (2)||||| 23.59|3|5|96|Xp22|OGS1, BBBG1, GBBB1|P|Opitz G syndrome, type I||300000|Fd, Ch|type II defect on chr.22||Opitz G syndrome, type I (2)||||| 23.60|11|13|94|Xp22-p21|PDR|P|Pigment disorder, reticulate||301220|Fd|||Partington syndrome II (2)||||| 23.61|11|5|95|Xp21.3|DAM6|P|DSS/AHC critical interval gene, from MAGE superfamily, 6||600891|REc|||||||| 23.62|11|5|95|Xp21.3|DAM10|P|DSS/AHC critical interval gene, from MAGE superfamily, 10||600893|REc|||||||| 23.63|2|5|96|Xp21.3|DSS|P|Dosage-sensitive sex reversal||300018|D, Fd|male-to-female sex reversal with duplication||Pseudohermaphroditism, male (3)||||| 23.64|7|13|95|Xp21.3|MAGEL1|P|MAGE-like gene||600619|RE|expressed only in testis|||||X(Smage1/2)|| 23.65|10|17|96|Xp21.3-p21.2|AHC, DAX1, AHX|C|Adrenal hypoplasia, congenital||300200|D, Fd|distal to GK||Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism|(3)||X(Ahch)|| 23.66|10|23|87|Xp21.3-p21.2|GK|C|Glycerol kinase deficiency||307030|D, Fd|2Mb distal to DMD||Glycerol kinase deficiency (2)|||X(Gyk)|| 23.67|1|25|93|Xp21.3-p21.2|RP6|L|Retinitis pigmentosa-6 (X-linked recessive)||312612|Fd|||?Retinitis pigmentosa-6 (2)||||| 23.68|2|26|96|Xp21.2|DFN4|P|Deafness 4, congenital sensorineural||300030|Fd|||Deafness 4, congenital sensorineural (2)||||| 23.69|5|27|93|Xp21.2|DMD, BMD|C|Dystrophin (muscular dystrophy, Duchenne and Becker types)||310200|X/A, Fd, D|dystrophin gene; cen-5'-3'-pter; 2Mb; ?Xp21.13||Duchenne muscular dystrophy (3); Becker muscular dystrophy (3);|Cardiomyopathy, dilated, X-linked (3)||X(Dmd)|| 23.70|6|29|94|Xp21.2-p21.1|XK|C|Kell blood group precursor||314850|F, D|~500kb distal to CGD||McLeod phenotype (3)||||| 23.71|1|27|97|Xp21.2-p11.2|UHX1|P|Ubiquitin carboxyl-terminal hydrolase, X-linked||300050|REa|||||||| 23.72|10|23|87|Xp21.2-q21.1|LUS, XS|L|Lutheran suppressor, X-linked||309050|Fd|||||||| 23.73|11|25|96|Xp21.1|CSNB2|P|Congenital stationary night blindness 2||300071|Fd|||Night blindness, congenital stationary, type 2 (2)||||| 23.74|3|30|89|Xp21.1|CYBB, CGD|C|Cytochrome b-245, beta polypeptide||306400|F, D|proximal to DMD||Chronic granulomatous disease, X-linked (3)|||X(Cybb)|| 23.75|9|15|89|Xp21.1|OTC|C|Ornithine transcarbamylase||311250|L, REa, A, D|proximal to DMD, CGD||Ornithine transcarbamylase deficiency (3)|||X(spf; Otc)|| 23.76|1|10|93|Xp21.1|RP3|C|Retinitis pigmentosa-3 (X-linked recessive)||312610|Fd, D|probably between OTC and CGD||Retinitis pigmentosa-3 (3)||||| 23.77|1|10|93|Xp21.1-q22|WTS, MRXS6|P|Wilson-Turner syndrome (mental retardation, X-linked, syndromic-6,|with gynecomastia and obesity)|309585|Fd|||Mental retardation, X-linked, syndromic-6, with gynecomastia and|obesity (2)|||| 23.78|11|28|88|Xp21|GTD|L|Gonadotropin deficiency||306190|D|distal to AHC||?Gonadotropin deficiency (2); ?Cryptorchidism (2)||||| 23.79|1|7|93|Xp21|SRS, MRSR|P|Snyder-Robinson X-linked mental retardation syndrome||309583|Fd|||Mental retardation, Snyder-Robinson type (2)||||Arena (1992)| 23.80|10|3|95|Xp21-q13|MRX9|P|Mental retardation, X-linked 9||309549|Fd|||Mental retardation, X-linked 9 (2)||||| 23.81|1|9|94|Xp11.4|NDP, ND|C|Norrie disease (pseudoglioma)||310600|Fd, D|close to DXS7||Norrie disease (3); Exudative vitreoretinopathy, X-linked, 305390 (3)|||X(Ndp)|Berger (1992); Chen (1992)| 23.82|3|20|94|Xp11.4-p11.23|AIED, OA2|C|Aland island eye disease (ocular albinism, Forsius-Eriksson type)||300600|F, D, Fd|pericentric between DXS7 and DXS72||Ocular albinism, Forsius-Eriksson type (2)||||| 23.83|12|10|91|Xp11.4-p11.23|PFC, PFD|C|Properdin P factor, complement||312060|Fd, REa, A|||Properdin deficiency, X-linked (3)|||X(Pfc)|| 23.84|3|21|94|Xp11.4-p11.2|ARAF1, RAFA1, PKS2|C|Oncogene ARAF1||311010|REa, A, Fd||||||X(Araf)|| 23.85|9|13|92|Xp11.4-p11.2|SYN1|C|Synapsin I||313440|A, Fd, REn|5kb from PFC|||||X(Syn1)|| 23.86|1|12|95|Xp11.3|COD1, PCDX|C|Cone dystrophy-1 (X-linked)||304020|Fd|||Progressive cone dystrophy (2)||||| 23.87|9|12|92|Xp11.3|CSNB1|I|Congenital stationary night blindness-1||310500|Fd|?order: DMD-17cM-MAOA-7.5cM-CSNB-7.5cM-TIMP-cen||Night blindness, congenital stationary, type I (2)||||| 23.88|4|25|90|Xp11.3|RP2|C|Retinitis pigmentosa-2 (X-linked recessive)||312600|Fd|||Retinitis pigmentosa-2 (2)||||| 23.89|6|7|91|Xp11.3-p11.23|OATL1|C|Ornithine aminotransferase-like 1||311240|REa, A, Fd|||||||| 23.90|1|1|96|Xp11.3-p11.23|PCTK1|C|PCTAIRE protein kinase 1||311550|A, REn|||||||| 23.91|8|21|91|Xp11.3-p11.23|TIMP, EPA|C|Erythroid-potentiating activity (tissue inhibitor of|metalloproteinases)|305370|REa, A|in intron of SYN1|||||X(Timp)|| 23.92|9|22|96|Xp11.3-q13.3|MRX14|P|Mental retardation, X-linked 14||300062|Fd|||Mental retardation, X-linked 14 (2)||||| 23.93|1|12|95|Xp11.23|GATA1, GF1, ERYF1, NFE1|C|GATA-binding protein-1 (globin transcription factor-1)||305371|REa, A||||||X(Gf1)|| 23.94|12|16|93|Xp11.23|MAOA|C|Monoamine oxidase A||309850|Fd, REa, D, A, REn|NDP, MAOA, MAOB closely linked||Brunner syndrome (3)|||X(Maoa)|| 23.95|4|10|90|Xp11.23|MAOB|C|Monoamine oxidase B||309860|REa, D, A, REn||||||X(Maob)|| 23.96|2|19|96|Xp11.23|RBM3|P|RNA binding motif protein 3||300027|REc, REn|||||||| 23.97|8|21|91|Xp11.23|UBE1, GXP1, A1ST|C|Ubiquitin-activating enzyme E1 (teA1S9)||314370|A, S, Ch, REa|escapes inactivation||||||| 23.98|10|12|90|Xp11.23-p11.22|SYP|P|Synaptophysin||313475|RE, REa, F, Fd||||||X(Syp)|| 23.99|10|16|94|Xp11.23-p11.22|UGTL|P|UDP-galactose translocator||314375|A|||||||| 23.100|5|18|95|Xp11.23-p11.22|WAS, IMD2, THC|C|Wiskott-Aldrich syndrome||301000|Fd, X/A|t(18;X)(q11.2;p11.2); distal to TIMP||Wiskott-Aldrich syndrome (3); Thrombocytopenia, X-linked, 313900 (3)|||X(Wasp, ?sf)|| 23.101|2|1|96|Xp11.22|CLCN5, CLCK2, NPHL2, DENTS|P|Chloride channel 5||300008|RE|||Dent disease, 600248 (3); Nephrolithiasis, X-linked recessive,|type I, 310468 (3); Hypophosphatemia, X-linked recessive, type III|(3)|X(Clcn5)|| 23.102|7|13|93|Xp11.22|NPHL1, XRN|P|Nephrolithiasis 1 (X-linked)||310468|Fd|||Nephrolithiasis, X-linked, with renal failure (2)||||| 23.103|10|4|91|Xp11.22|TFE3|P|Transcription factor for IgH enhancer||314310|REa, Fd||||||X(Tfe3)|| 23.104|5|18|95|Xp11.22-p11.21|DXS1272E, XE169, SMCX|C|XE169 gene (selected mouse cDNA on X, human homolog of)||314690|REa, REn, A|escapes inactivation|||||X(Smcx)|| 23.105|4|10|96|Xp11.22-p11.21|DXS423E, SMC1|P|Segregation of mitotic chromosomes 1 (SMC1, yeast human homolog of;|DXS423E; SB1.8)|300040|REn|escapes lyonization|||||X(Sb1.8)|| 23.106|6|7|91|Xp11.22-p11.21|OATL2|C|Ornithine aminotransferase-like 2||311241|REa, A, Fd|||||||| 23.107|2|9|92|Xp11.21|ALAS2, ASB, ANH1|C|Aminolevulinate, delta-, synthase-2||301300|Ch, REa, A, Fd|||Anemia, sideroblastic/hypochromic (3)|||X(Alas)|| 23.108|1|12|95|Xp11.21|FGDY, AAS|C|Faciogenital dysplasia (Aarskog-Scott syndrome)||305400|X/A, Fd|||Aarskog-Scott syndrome (3)|||X(Fgdy)|| 23.109|1|25|91|Xp11.21|IP1, IP|C|Incontinentia pigmenti-1, sporadic type||308300|X/A|Xq21 = conflicting localization||Incontinentia pigmenti, sporadic type (2)|||X(Td)|| 23.110|9|12|92|Xp11.2|ELK1|C|ELK1, member of ETS oncogene family||311040|REa, A|?same as SSRC; distal to OATL1|||||X(Elk1)|| 23.111|1|9|94|Xp11.2|RCCP2|C|Renal cell carcinoma, papillary||312390|Ch, S, REc|t(X;1)(p11;q21)||Renal cell carcinoma, papillary, 2 (2)||||| 23.112|2|28|96|Xp11.2|SSX1, SSRC|C|Synovial sarcoma, X breakpoint 1||312820|Ch, RE, A|?same as ELK1||Sarcoma, synovial (3)||||| 23.113|2|15|96|Xp11.2|ZNF157|C|Zinc finger protein 157 (HZF22)||300024|REc|||||||| 23.114|10|21|92|Xp11|MRXA|L|Mental retardation, X-linked nonspecific, with aphasia||309545|Fd|||?Mental retardation, X-linked nonspecific, with aphasia (2)||||Wilson (1992)| 23.115|3|19|91|Xp11-q11|ACTL1|P|Actin-like sequence-1||300020|REa|||||||| 23.116|4|16|96|Xp11-q21|MRX20|P|Mental retardation, X-linked 20||300047|Fd|||Mental retardation, X-linked 20 (2)||||| 23.117|1|10|93|Xp11-q21|PRS, MRXS2|P|Prieto syndrome (mental retardation, X-linked, syndromic-2, with|dysmorphism and cerebral atrophy)|309610|Fd|||Mental retardation, X-linked, syndromic-2, with dysmorphism and|cerebral atrophy (2)|||| 23.118|1|10|93|Xp11-q21.3|SHS, MRXS3|P|Sutherland-Haan syndrome (mental retardation, X-linked, syndromic-3,|with spastic diplegia)|309470|Fd|linked to DXYS1||Mental retardation, X-linked, syndromic-3, with spastic diplegia|(2)|||| 23.119|12|1|94|Xp|CALB3, CABP9K|P|Calbindin 3 (vitamin D-dependent calcium-binding protein)||302020|REa|||||||| 23.120|4|28|90|Xp|CCT|L|Cataracts, congenital total||302200|Fd|||?Cataract, congenital total (2)||||| 23.121|4|25|90|Xp|RTT, RTS|L|Rett syndrome||312750|Ch|conflicting Xp11.22 and Xp22.11||?Rett syndrome (2)||||Archidiacono (1991); Ellison (1992)| 23.122|3|14|96|Xp|SMAX2|P|Spinal muscular atrophy, X-linked lethal infantile||300021|Fd|||Spinal muscular atrophy X-linked lethal infantile (2)||||| 23.123|4|30|91|Xcen-q13|PFKFB1, PFRX|P|Fructose-2,6-bisphosphatase||311790|REa, A|?Xq27-q25||||||| 23.124|6|22|94|Xcen-q21|ARR3|P|Arrestin 3, retinal||301770|REa|||||||| 23.125|3|28|90|Xq|DXS435E, A11|P|A-11 gene||300010|REc|||||||| 23.126|10|2|95|Xq11|MXS1, A15|P|Membrane component, X chromosome, surface marker 1||600689|REa|||||||| 23.127|3|27|95|Xq11-q12|AR, DHTR, TFM, SBMA, KD|C|Androgen receptor (dihydrotestosterone receptor)||313700|S, Fd, REa, A|||Androgen insensitivity, several forms (3); Spinal and bulbar muscular|atrophy of Kennedy, 313200 (3); Prostate cancer (3); Perineal|hypospadias (3); Breast cancer, male, with Reifenstein syndrome (3)|X(Tfm)|La Spada (1991); Biancalana (1992)| 23.128|5|27|93|Xq11-q12|MRX2|L|Mental retardation, X-linked-2, non-dysmorphic||309540|Fd|||?Mental retardation, X-linked-2, non-dysmorphic (2)||||| 23.129|3|20|94|Xq11.2-q12|MSN|P|Moesin||309845|REa, A||||||X(Msn)|| 23.130|9|15|96|Xq12|AUF1B|P|AU-rich element RNA-binding protein 1, type B||300057|REa, A|||||||| 23.131|2|26|96|Xq12|EPLG2|P|eph-related receptor tyrosine kinase ligand 2||300035|REa, A, REc, H|near AR|||||X(Eplg2)|| 23.132|3|8|96|Xq12-q13|ATP7A, MNK, MK, OHS|C|ATPase, Cu++ transporting, alpha polypeptide||300011|Fc, X/A, H|probably Xq13.2-q13.3, ~150kb prox. to PGK1||Menkes disease, 309400 (3); Occipital horn syndrome, 304150 (3)|||X(Mnk)|| 23.133|4|28|90|Xq12.2-q13.1|EDA, HED|C|Anhidrotic ectodermal dysplasia||305100|X/A, H, Fd|~10cM distal to DXS1, proximal to DXYS1||Anhidrotic ectodermal dysplasia (2)|||X(Ta)|| 23.134|1|7|93|Xq13|ASAT|L|Anemia, sideroblastic, with spinocerebellar ataxia||301310|Fd|||?Anemia, sideroblastic, with spinocerebellar ataxia (2)||||Raskind (1991); Cox (1992)| 23.135|5|18|95|Xq13|IL2RG, SCIDX1, SCIDX, IMD4|C|Interleukin-2 receptor, gamma||308380|Fd|linked to DXS159||Severe combined immunodeficiency, X-linked, 300400 (3); Combined|immunodeficiency, X-linked, moderate, 312863 (3)||X(Il2rg)|| 23.136|2|26|96|Xq13|MLLT7, AFX1|P|Myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila)|homolog); translocated to, 7|300033|Ch|||||||| 23.137|3|5|96|Xq13|NRU, P2Y4|P|Nucleotide receptor, uridine||300038|A|||||||| 23.138|9|12|92|Xq13|PGK1, PGKA|C|Phosphoglycerate kinase-1||311800|S, R, REb, Fd|?Xq13.3||Hemolytic anemia due to PGK deficiency (3); Myoglobinuria/hemolysis|due to PGK deficiency (3)||X(Pgk1)|| 23.139|9|28|93|Xq13|PHKA1|C|Phosphorylase kinase, muscle, alpha polypeptide||311870|REa, A, REn|?proximal and close to PGKA;||Muscle glycogenosis (3)|||X(Phka)|| 23.140|4|23|96|Xq13|RAD54, XH2, ATRX, ATR2|C|RAD54 (Saccharomyces cerevisiae)||300032|RE, Fd|||Alpha-thalassemia/mental retardation syndrome, type 2, 301040 (3);|Juberg-Marsidi syndrome, 309590 (3)||X(Xh2)|| 23.141|10|23|87|Xq13-q21|CHR39C|P|Cholesterol repressible protein 39C||302920|REa|||||||| 23.142|6|22|94|Xq13-q21|VDAC1|P|Voltage-dependent anion channel 1||314555|Psh, A|||||||| 23.143|3|4|88|Xq13-q21|WWS|P|Wieacker-Wolff syndrome||314580|Fd|linked to DXYS1||Wieacker-Wolff syndrome (2)||||| 23.144|10|2|91|Xq13-q22|MCS, MRXS4|P|Miles-Carpenter syndrome (mental retardation, X-linked, syndromic-4,|with congenital contractures and low fingertip arches)|309605|Fd|linked to DXYS1||Mental retardation, X-linked, syndromic-4, with congenital|contractures and low fingertip arches (2)|||| 23.145|1|25|91|Xq13-q27|CCG1, BA2R|C|Cell cycle, G1 phase defect (temperature sensitive mutation, mouse|and hamster, complementation of)|313650|S, H|?near HPRT|||||X(Ccg1)|| 23.146|10|17|95|Xq13.1|DYT3|C|Torsion dystonia-parkinsonism, Filipino type||314250|Fd, LD|||Torsion dystonia-parkinsonism, Filipino type (2)||||| 23.147|10|27|93|Xq13.1|GJB1, CX32, CMTX1|C|Gap junction protein, beta-1, 32kD (connexin 32)||304040|REa, Fd|||Charcot-Marie-Tooth neuropathy, X-linked-1, dominant, 302800 (3)|||X(Gjb1)|| 23.148|9|28|93|Xq13.1|RPS4X, CCG2, SCAR|C|Ribosomal protein S4, X-linked||312760|A, REa, REn|cen-RPS4X-PHKA1-XIST-qter in 2.6Mb||Turner syndrome (1)|||X(Rps4x)|| 23.149|9|14|95|Xq13.2|CDX4|P|Caudal type homeo box transcription factor 4||300025|REn||||||X(Cdx4)|| 23.150|1|18|95|Xq13.2|SLC16A2, DXS128, XPCT|P|Solute carrier family 16 (monocarboxylic acid transporters),|member 2|600094|RE|||||||| 23.151|10|16|94|Xq13.2|XIC, XCE, XIST|C|X chromosome controlling element (X-inactivation center)||314670|Ch, S, A|q13-q21; metaphase bend, or fold, at q13.3-q21.1|||||X(Xce)|| 23.152|7|10|91|Xq21|AHDS|P|Allan-Herndon-Dudley mental retardation syndrome||309600|Fd|||Allan-Herndon syndrome (2)||||| 23.153|3|31|97|Xq21|POF1, POF|P|Premature ovarian failure-1||311360|Ch|at least 8 genes in Xq21||Ovarian failure, premature (2)||||| 23.154|12|29|89|Xq21-q22|FPSL5|P|Farnesylpyrophosphate synthetase-5||305425|REa, A|||||||| 23.155|2|23|92|Xq21-q22|TDGF2|P|Teratocarcinoma-derived growth factor-2||313680|REa|||||||| 23.156|3|14|96|Xq21.1|POU3F4, DFN3|P|POU domain, class 3, transcription factor 4||300039|Fd, D, H, REn|||Deafness 3, conductive, with stapes fixation, 304400 (3)||||| 23.157|12|3|91|Xq21.1-q21.3|ZNF6, CMPX1|P|Zinc finger protein-6||314990|REa, A|||||||| 23.158|4|9|96|Xq21.3|CPX|C|Cleft palate and/or ankyloglossia||303400|Fd, D, REc|||Cleft palate, X-linked (2)||||| 23.159|11|7|89|Xq21.2|CHM, TCD|C|Choroideremia||303100|Fd, LD, D, A, Ch, X/A|0.0 recombination with DXYS1, DXYS12||Choroideremia (3)||||| 23.160|6|13|95|Xq21.3|PRKCI|P|Protein kinase C, iota||600539|REn|||||||| 23.161|10|16|94|Xq21.3-q22|BTK, AGMX1, IMD1, XLA, AT|C|Bruton agammaglobulinemia tyrosine kinase||300300|H, Fd, A|||Agammaglobulinemia, type 1, X-linked (3); ?XLA and isolated growth|hormone deficiency, 307200 (3)||X(xid, Btp)|| 23.162|12|29|89|Xq21.3-q22|MGC1, MGCN|P|Megalocornea-1, X-linked||309300|Fd|||Megalocornea, X-linked (2)||||| 23.163|7|18|91|Xq21.3-q22|PHP, GHDX|L|Panhypopituitarism, X-linked||312000|Fd|?contiguous gene syndrome with XLA||?Panhypopituitarism, X-linked (2)||||| 23.164|3|18|91|Xq22|COL4A5, ATS, ASLN|C|Collagen, type IV, alpha-5 polypeptide||303630|REa, A, Fd|leiomyomatosis-nephropathy = contiguous gene syndrome||Alport syndrome, 301050 (3); Leiomyomatosis-nephropathy syndrome,|308940 (1)|||| 23.165|9|28|93|Xq22|COL4A6|C|Collagen, type IV, alpha-6 polypeptide||303631|REn, A|||Leiomyomatosis, diffuse (1); ?Alport syndrome, X-linked, type 2 (1)||||| 23.166|10|8|96|Xq22|DFN1, DDP, MTS|C|Deafness 1, progressive (deafness/dystonia peptide)||304700|Fd, Ren|||Deafness 1, progressive (3); Mohr-Tranebjaerg syndrome (3)||||| 23.167|7|8|96|Xq22|DRP2|P|Dystrophin-related protein 2||300052|REc|||||||| 23.168|9|6|90|Xq22|GLA|C|Galactosidase, alpha||301500|S, R, A, Fd|||Fabry disease (3)|||X(Ags)|| 23.169|9|15|96|Xq22|GUC2F, GUCY2F|P|Guanylate cyclase 2F||300041|A|||||||| 23.170|10|16|94|Xq22|PLP, PMD|C|Proteolipid protein; Pelizaeus-Merzbacher disease||312080|REa, A, Ch, R, Fd|||Pelizaeus-Merzbacher disease (3); Spastic paraplegia 2, 312920 (3)|||X(Plp(jp))|| 23.171|2|26|96|Xq22-q23|AGTR2|C|Angiotensin receptor 2||300034|REa, A||||||X(Agtr2)|| 23.172|12|4|90|Xq22-q24|PRPS1|C|Phosphoribosyl pyrophosphate synthetase-1||311850|S, R, REa, A|||Phosphoribosyl pyrophosphate synthetase-related gout (3)||||| 23.173|11|6|92|Xq22-q28|AIH3|L|Amelogenesis imperfecta-3, hypomaturation or hypoplastic type||301201|Fd|||?Amelogenesis imperfecta-3, hypoplastic type (2)||||| 23.174|7|8|89|Xq22-q28|MYCL2|P|MYCL-related processed gene||310310|REa|||||||| 23.175|10|15|95|Xq22.2|TBG|C|Thyroxine-binding globulin||314200|REa, A|||[Euthyroidal hyper- and hypothyroxinemia] (1)||||| 23.176|4|23|96|Xq23-q24|MRX23|P|Mental retardation, X-linked 23||300046|Fd|||Mental retardation, X-linked nonspecific, type 23 (2)||||| 23.177|5|18|95|Xq24|HTR2C|C|5-hydroxytryptamine (serotonin) receptor-2C||312861|REa, A, H, Fd|formerly HTR1C|||||X(Htr2c)|| 23.178|3|18|91|Xq24|LAMP2|C|Lysosome-associated membrane protein-2||309060|A, D||||||X(Lamp2)|| 23.179|2|23|92|Xq24-q25|RAD6A|P|RAD6, yeast, human homolog of, type A||312180|A, REa|||||||| 23.180|6|9|95|Xq24-q26|ANT2|C|Adenine nucleotide translocator-2 (fibroblast)||300150|REa|||||||| 23.181|11|5|95|Xq24-q26.1|CMT2D, NADMR|P|Neuropathy, axonal motor-sensory, with deafness and mental retardation|(Cowchock syndrome)|310490|Fd|||Cowchock syndrome (2)||||| 23.182|10|17|95|Xq24-q27|BZX|P|Bazex syndrome||301845|Fd|||Bazex syndrome (2)||||| 23.183|7|13|95|Xq24-q27.1|HCG, CGH|P|Hypertrichosis, congenital generalized||307150|Fd|||Hypertrichosis, congenital generalized (2)||||| 23.184|4|9|96|Xq25|HDGF|P|Hepatoma-derived growth factor||300043|Psh, A|||||||| 23.185|12|4|90|Xq25|LYP, IMD5, XLP, XLPD|C|Lymphoproliferative syndrome||308240|Fd, D|1cM from DXS42; no recombination with DXS37||Lymphoproliferative syndrome, X-linked (2)||||| 23.186|3|1|94|Xq25-q26|GRIA3, GLUR3|P|Glutamate receptor, ionotropic, AMPA 3||305915|Psh, A||||||X(Glur3)|| 23.187|5|14|95|Xq25-q26|HTX1|P|Heterotaxy-1||306955|Fd|||Heterotaxy, X-linked visceral (2)||||| 23.188|10|4|93|Xq25-q26.1|TAS|P|Thoracoabdominal syndrome||313850|Fd|||Thoracoabdominal syndrome (2)||||| 23.189|8|25|92|Xq25-q27|PGS, MRXS5|P|Pettigrew syndrome (mental retardation, X-linked, with Dandy-Walker|malformation, basal ganglia disease, and seizures)|304340|Fd|||Mental retardation, X-linked, syndromic-5, with Dandy-Walker|malformation, basal ganglia disease, and seizures (2)|||| 23.190|1|9|94|Xq26|CD40LG, HIGM1, IGM|C|CD40 antigen ligand (hyper-IgM syndrome)||308230|Fd, A, Psh|Between DSX144E and DSX300||Immunodeficiency, X-linked, with hyper-IgM (3)|||X(CD40l)|| 23.191|2|28|97|Xq26|GPC3|P|Glypican 3||300037|A|||||||| 23.192|7|14|93|Xq26|GUST|P|Gustavson mental retardation syndrome (with microcephaly, optic|atrophy, deafness)|309555|Fd|||Gustavson syndrome (2)||||| 23.193|12|16|93|Xq26|SDYS, SGB|C|Simpson dysmorphia syndrome||312870|Fd|||Simpson-Golabi-Behmel syndrome (2)||||| 23.194|10|16|94|Xq26|SHFM2, SHFD2|P|Split hand/foot malformation, type (ectrodactyly) 2||313350|Fd|||Split hand/foot malformation, type 2 (2)||||Faiyax (1992)| 23.195|8|21|92|Xq26|ZNF75|P|Zinc finger protein-75||314997|REa, A|1Mb distal to HPRT||||||| 23.196|4|25|90|Xq26-q27|BFLS|P|Borjeson-Forssman-Lehmann syndrome||301900|Fd|?mutation in Hox3||Borjeson-Forssman-Lehmann syndrome (2)||||| 23.197|6|8|89|Xq26-q27|HPT, HPTX, HYPX|P|Hypoparathyroidism||307700|Fd|?distal to F9||Hypoparathyroidism, X-linked (2)||||| 23.198|3|17|94|Xq26-q27|SOX3|P|SRY (sex determining region Y)-box 3||313430|REa, H|P mutant in BFLS|||||X(Sox3)|| 23.199|10|23|87|Xq26-q27.2|HPRT|C|Hypoxanthine phosphoribosyltransferase||308000|S, M, C, R, REa, Fd|||Lesch-Nyhan syndrome (3); HPRT-related gout (3)|||X(Hprt)|| 23.200|9|12|95|Xp11.3-q11.2|AMCX1|P|Arthrogryposis multiplex congenita X-linked (spinal muscular atrophy,|infantile, X-linked)|301830|Fd|||Arthrogryposis, X-linked (spinal muscular atrophy, infantile,|X-linked) (2)|||| 23.201|12|24|89|Xq26-q28|GLUDP1|C|Glutamate dehydrogenase pseudogene-1||305910|REa, A|||||||| 23.202|5|18|95|Xq26-qter|INDX|P|Immunoneurologic syndrome X-linked, of Wood, Black, and Norbury||600486|Fd|||Wood neuroimmunologic syndrome (2)||||| 23.203|1|7|93|Xq26.1|OCRL, LOCR, OCRL1|C|Oculocerebrorenal syndrome of Lowe||309000|X/A, Fd|||Lowe syndrome (3)||||Mueller (1991); Attree (1992)| 23.204|2|5|96|Xq26.1|SNF2L1|P|SNF2 (sucrose nonfermenting, yeast, homolog)-like||300012|RE|||||||| 23.205|7|9|90|Xq26.3-q27.1|ADFN, ALDS|P|Albinism-deafness syndrome||300700|Fd|~8cM proximal to F9||Albinism-deafness syndrome (2)||||| 23.206|1|25|91|Xq27|MCF2, DBL|C|Oncogene MCF2 (oncogene DBL)||311030|REa, A, RE, D|~60kb telomeric to F9; 5' replacement by chr.15 segment|||||X(Mcf2)|| 23.207|6|12|92|Xq27-q28|ANOP1|L|Anophthalmos-1 (with mental retardation but without anomalies)||301590|F|||?Anophthalmos-1 (2)||||| 23.208|8|21|91|Xq27.1-q27.2|CDR, CDR62A|C|Cerebellar degeneration-related protein-1||302650|REa, A, Fd|between HPRT and F9|||||X(Cdr)|| 23.209|4|25|90|Xq27.1-q27.2|F9, HEMB|C|Coagulation factor IX (plasma thromboplastic component)||306900|REa, A, Fd, D, X/A, RE|distal to HPRT; proximal part of Xq27||Hemophilia B (3)|||X(Cf9)|| 23.210|1|11|94|Xq27.3|FMR1, FRAXA|C|Fragile X mental retardation-1||309550|Ch, F, Fd, RE|8-8.7Mb from telomere||Fragile X syndrome (3)|||X(Fmr1)|Gedeon (1992); Oberle (1992)| 23.211|8|3|95|Xq27.3-qter|EBM|P|Epidermolysis bullosa, macular type||302000|Fd|||||||| 23.212|4|24|96|Xq28|ALD|C|Adrenoleukodystrophy||300100|F, Fd, D|about 650kb from GCP/RCP||Adrenoleukodystrophy (3); Adrenomyeloneuropathy (3)|||X(Ald)|| 23.213|4|9|97|Xq28|DXS707, ARD1|P|N-acetyltransferase ARD1, human homolog of||300013|RE|||||||| 23.214|2|5|96|Xq28|ATP2B3, PMCA3|P|ATPase, Ca++ transporting, plasma membrane 3||300014|REa, A, Fd|||||||| 23.215|3|18|91|Xq28|AVPR2, DIR, DI1, ADHR|C|Arginine vasopressin receptor-2 (nephrogenic diabetes insipidus)||304800|Fd, S, REa, Psh|||Diabetes insipidus, nephrogenic (3)||||| 23.216|4|25|93|Xq28|BGN|C|Biglycan||301870|REa, A|proximal Xq28|||||X(Bgn)|| 23.217|5|18|95|Xq28|CALT|P|Caltractin||300006|A|||||||| 23.218|10|23|87|Xq28|CBBM, BCM|C|Blue-monochromatic colorblindness (blue cone monochromacy)||303700|F, Fd, RE|also due to deletion of GCP and RCP||Colorblindness, blue monochromatic (3)||||| 23.219|11|14|96|Xq28|CMD3A, CDFI|P|Cardiomyopathy, dilated 3A (X-linked)||300069|Fd|?allelic to BTHS||Cardiomyopathy, dilated, X-linked fatal infantile (2)||||| 23.220|12|18|89|Xq28|CDPX2, CPXD, CPX|L|Chondrodysplasia punctata-2, X-linked dominant (Happle syndrome)||302960|H|in mouse Bpa, bare-patches, close to G6pd and mdx||Chondrodysplasia punctata, X-linked dominant (2)|||X(Bpa)|| 23.221|9|28|93|Xq28|DKC|C|Dyskeratosis congenita||305000|Fd|||Dyskeratosis congenita (2)||||| 23.222|10|2|95|Xq28|DNL1L|P|DNase I, lysosomal-like||600793|RE|between QM and DXS1010E||||||| 23.223|3|22|93|Xq28|DXS522E, F8B|P|DNA segment, single copy, expressed probes, intron 22 probe, F8B||305424|RE|||||||| 23.224|1|24|93|Xq28|DXS648, QM|C|QM gene||312173|S, RE|||||||| 23.225|9|28|93|Xq28|EFE2, BTHS|C|Endocardial fibroelastosis-2 (Barth syndrome; cardioskeletal|myopathy with neutropenia and abnormal mitochondria)|302060|Fd|||Endocardial fibroelastosis-2 (2); Barth syndrome (3)||||| 23.226|4|30|91|Xq28|EMD, EDMD|C|Emery-Dreifuss muscular dystrophy||310300|F, Fd, H, REn|in distal Xq28||Emery-Dreifuss muscular dystrophy (3)||||| 23.227|9|13|92|Xq28|F8A|C|Factor VIII associated gene||305423|RE|3 copies, 1 in intron 22 of F8C|||||X(F8a)|| 23.228|5|27|93|Xq28|F8C, HEMA|C|Coagulation factor VIIIc, procoagulant component||306700|F, Fd, REa, A, RE|cen-G6PD-3' end of F8C-5'-ter; 1.1Mb from telomere||Hemophilia A (3)|||X(Cf8)|| 23.229|8|10|93|Xq28|FLN1, ABPX|C|Filamin-1 (actin-binding protein-280)||300017|REa, A, REn||||||X(Fln1)|| 23.230|10|27|93|Xq28|FRAXE, FMR2|P|Fragile site, X-linked, E||309548|Ch, REn|||Mental retardation, X-linked, FRAXE type (3)||||| 23.231|2|26|96|Xq28|FRAXF|P|Fragile site, folic acid type, rare, fra(X)(q28)||300031|Ch, RE|distal to FRAXA and FRAXE||Mental retardation, X-linked, FRAXF type (3)||||| 23.232|4|28|90|Xq28|G6PD, G6PD1|C|Glucose-6-phosphate dehydrogenase||305900|F, S, REb, RE|telomeric to GDX; proximal to F8, in same 290kb PFGE fragment;|1.5Mb from telomere|G6PD deficiency (3); Favism (3); Hemolytic anemia due|to G6PD deficiency (3)||X(G6pd)|| 23.233|12|29|89|Xq28|GABRA3|C|Gamma-aminobutyric acid (GABA) A receptor, alpha-3||305660|H, REa, A, RE|4Mb from telomere|||||X(Gabra3)|| 23.234|5|14|95|Xq28|HMS1, GAY1|L|Homosexuality, male||306995|Fd|||[?Homosexuality, male] (2)||||| 23.235|8|21|91|Xq28|GCP, CBD|C|Green cone pigment||303800|F, RE, A, Fd|linked to G6PD; multiple genes||Colorblindness, deutan (3)|||X(Rsvp)|| 23.236|12|4|90|Xq28|GDX|P|Protein GDX||312070|RE, H|40kb 3' to G6PD|||||X(Gdx)|| 23.237|2|5|96|Xq28|HFC1, HCFC1|C|Host cell factor C1 (VP16-accessory protein)||300019|REn, REa, A|50kb distal to V2R|||||X(Hcfc1)|| 23.238|6|12|92|Xq28|IDS, MPS2, SIDS|C|Iduronate 2-sulfatase (Hunter syndrome)||309900|X/A, Fd, F, RE|telomeric IDS2 source of inversion in IDS||Mucopolysaccharidosis II (3)|||X(Ids)|| 23.239|11|6|95|Xq28|IL9R|P|Interleukin 9 receptor||300007|A|in pseudoautosomal region Yq12;|pseudogenes on 9q34, 10p15, 16p13.3, 18p11.3|||||| 23.240|4|11|94|Xq28|IP2|C|Incontinentia pigmenti-2 (familial, male-lethal type)||308310|Fd|||Incontinentia pigmenti, familial (2)|||X(?Str)|| 23.241|4|10|97|Xq28|IPOX, CIIPX|P|Intestinal pseudoobstruction, neuronal, primary idiopathic||300048|Fd|||Intestinal pseudoobstruction, neuronal, X-linked (2)||||| 23.242|7|8|96|Xq28|ITBA1|P|ITBA1 gene||300059|RE|||||||| 23.243|7|8|96|Xq28|ITBA2|P|ITBA2 gene||300060|RE|||||||| 23.244|10|16|94|Xq28|L1CAM, CAML1, HSAS1|C|L1 cell adhesion molecule||308840|A, RE, H, Fd|between RCP/GCP cluster and G6PD||Hydrocephalus due to aqueductal stenosis, 307000 (3); MASA|syndrome, 303350 (3); Spastic paraplegia, 312900 (3)||X(L1cam)|| 23.245|10|23|87|Xq28|MAFD2, MDX|L|Major affective disorder-2||309200|F|linkage to G6PD,CB in non-Ashkenazi Jews||?Manic-depressive illness, X-linked (2)||||| 23.246|2|5|96|Xq28|MAGE1|C|Melanoma antigen 1 (directs expression of antigen MZ2-E)||300016|REa, A|cluster of 12 genes||||||| 23.247|9|12|96|Xq28|MECP2|P|Methyl-CpG-binding protein-2||300005|H, REc|70kb centromeric of RCP/GCP|||||X(Mecp2)|| 23.248|10|21|92|Xq28|MPP1, PEMP, EMP55|P|Membrane protein, palmitoylated-1 (55kD)||305360|REa, REn|~30kb 3' and centromeric to F8|||||X(Emp55)|| 23.249|10|23|87|Xq28|MRSD, CHRS|P|Mental retardation-skeletal dysplasia||309620|Fd|||Mental retardation-skeletal dysplasia (2)||||Dlouhy (1987); Tsien (1992)| 23.250|1|25|93|Xq28|MRX3|P|Mental retardation, X-linked-3||309541|Fd|distal half of q28||Mental retardation, X-linked-3 (2)||||| 23.251|5|14|95|Xq28|MTCP1|P|Mature T-cell proliferation 1||600482|Ch, A|||||||| 23.252|7|8|96|Xq28|MTM1, MTMX|C|Myotubular myopathy-1 (myotubularin)||310400|Fd, REc|close to F8||Myotubular myopathy, X-linked (3)||||| 23.253|10|4|91|Xq28|MYP1, BED|P|Myopia-1 (Bornholm eye disease)||310460|Fd|||Myopia-1 (2); Bornholm eye disease (2)||||| 23.254|1|27|97|Xq28|NHBP|P|Nodular heterotopia, bilateral periventricular||300049|Fd|||Nodular heterotopia, bilateral periventricular (2)||||| 23.255|2|9|92|Xq28|OPD1|P|Otopalatodigital syndrome, type I||311300|Fd|||Otopalatodigital syndrome, type I (2)||||| 23.256|12|4|90|Xq28|P3|P|Protein P3||312090|RE, H|order: G6PD-3'-(7kb)-5'-P3-3'-(0.5kb)-5'-GDX|||||X(P3)|| 23.257|1|27|97|Xq28|PPMX|P|Mental retardation with psychosis, pyramidal signs, and macroorchidism||300055|Fd|||Mental retardation with psychosis, pyramidal signs, and|macroorchidism (2)|||| 23.258|7|9|90|Xq28|RCP, CBP|C|Red cone pigment||303900|F, RE, A, Fd|5' to CBD||Colorblindness, protan (3)|||X(Rsvp)|| 23.259|6|14|94|Xq28|RENBP|P|Renin-binding protein||312420|REn, Psh|||||||| 23.260|2|15|96|Xq28|RGC1|P|Rho-GAP hematopoietic protein C1||300023|RE|||||||| 23.261|2|15|96|Xq28|SEX|P|Sex chromosome X transmembrane protein of HGF receptor family 3||300022|RE|||||||| 23.262|2|26|96|Xq28|SLC6A8|C|Solute carrier family 6 (neurotransmitter transporter, creatine),|member 8|300036|REa, Psh, A|distal to G6PD|||||X(Slc6a8)|| 23.263|7|2|96|Xq28|SYBL1|P|Synaptobrevin-like 1||300053|D|||||||| 23.264|10|23|87|Xq28|TKC, TKCR|C|Torticollis, keloids, cryptorchidism and renal dysplasia||314300|X/A|distal to G6PD||Goeminne TKCR syndrome (2)||||| 23.265|4|1|96|Xq28|TKT2, TKR|P|Transketolase-2||300044|REf|between GCP and FLN1||{?Wernicke-Korsakoff syndrome, susceptibility to} (1)||||| 23.266|10|4|91|Xq28|WSN, BGMR|P|Waisman syndrome (basal ganglion disorder with mental retardation)||311510|Fd|||Waisman parkinsonism-mental retardation syndrome (2)||||| 23.267|10|23|87|Xq28|XM|P|Xm||314900|F|linked to DCB, PCB||||||| 23.268|10|21|96|Xq22|FSHPRH1, LRPR1|P|FSH primary response (LRPR1, rat) homolog 1||300065|REn, REc|||||||| 23.269|2|24|97|Xq26|FGF13, FGF2|P|Fibroblast growth factor 13||300070|REa, H||||||X(Fhf2)|| 24.1|10|4|93|Ypter-p11.2|ASMTY|P|Acetylserotonin methyltransferase (Y chromosome)||402500|REa, Fd|pseudoautosomal||||||| 24.2|10|4|93|Ypter-p11.2|MIC2Y|C|Antigen identified by monoclonal 12E7, Y homolog||450000|S, A, D, Fd|pseudoautosomal||||||| 24.3|10|13|93|Ypter-p11.2|TSPY|P|Testis-specific protein, Y-linked||480100|RE|||||||| 24.4|10|4|93|Ypter-p11.2|XE7Y|P|Pseudoautosomal gene XE7 (Y chromosome)||465000|REn|see 300015 locus||||||| 24.5|10|4|93|Yp13.3|IL3RAY|P|Interleukin-3 receptor (Y chromosome)||430000|REa, A, REn|308385 = X homolog; pseudoautosomal||||||| 24.6|1|13|95|Yp11.3|RPS4Y|P|Ribosomal protein S4, Y-linked||470000|REn|||||||| 24.7|11|6|92|Yp11.3|TDF, SRY|C|Testis determining factor (sex-determining region Y)||480000|Ch, Fd|||Gonadal dysgenesis, XY type (3)|||Yp(Tdy, Sry)|| 24.8|1|13|95|Yp11.3|ZFY|C|Zinc finger protein, Y-linked||490000|REn, A|||||||| 24.9|10|4|93|Yp11|AMELY, AMGL|C|Amelogenin (Y chromosome)||410000|D|301200 = X homolog||||||| 24.10|10|4|93|Yp11|CSF2RY|P|Granulocyte-macrophage colony-stimulating factor receptor, alpha|subunit (Y chromosome)|425000|A|306250 = X homolog; distal to MIC2Y||||||| 24.11|10|4|93|Yp|ANT3Y|P|Adenine nucleotide translocator-3 (Y chromosome)||403000|REc, REn|300151 = X homolog; proximal to CSF2RY||||||| 24.12|1|16|97|Yq|AZF2|P|Azoospermia factor 2||400000|D|||||||| 24.13|10|16|94|Yq|SMCY|P|Selected mouse cDNA on Y, human homolog of||600055|D, REc|same interval as HYA; encodes H-Y epitope in mouse|||||Yp(Smcy)|| 24.14|10|17|95|Yq11|AZF1, SP3|C|Azoospermia factor 1||415000|Ch|||?Sertoli-cell-only syndrome (1)||||| 24.15|5|14|96|Yq11|DAZ|P|Deleted in azoospermia||400003|D|?same as AZF||?Sertoli-cell-only syndrome (1)|||17(dazla)|| 24.16|5|27|93|Yq11|HY, HYA|C|Histocompatibility Y antigen||426000|D|deletion interval 6; ?encoded by SMCY|||||Yp(Hya)|| 24.17|2|19|97|Yq11|RBM1|C|RNA binding motif protein 1||400006|REc|||||||| 24.18|2|19|97|Yq11|RBM2|P|RNA binding motif protein 2||400007|REc|||||||| 24.19|1|30|96|Yq11.21|XGPY|P|XG blood group, pseudogene, on Y||400002|RE, Fd|||||||| 24.20|3|26|96|Yq12|STA, GCY, TSY|L|Stature, Y-linked||475000|Ch, D||||||||