Human Genome Build: March 2006

View Disease Genes That Affect Vision
View Eye Diseases Resulting from Chromosomal Aberrations
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# Genome Position Gene Omim Gene Name Symbol Disease Name (Disease Omim) mRNA Acc Entrez Gene Id UniGene SNP
1 1p36.33-p36.12   602533  Parkinson disease (autosomal recessive, early onset) 7  DJ1 
  • Parkinson disease 7; PARK7  (606324) 
    		•  NM_007262 search NEIBank  11315   419640   SNP
    2 1p36.1-p34   171760  alkaline phosphatase, liver/bone/kidney  ALPL 
  • hypophosphatasia, childhood  (241510) 
  • hypophosphatasia, infantile  (241500) 
    		•  NM_000478 search NEIBank  249   250769   SNP
    3 1p34   230000  fucosidase, alpha-L- 1, tissue  FUCA1 
  • fucosidosis  (230000) 
    		•  NM_000147 search NEIBank  2517   370858   SNP
    4 1p34   606480  zinc metalloproteinase STE24 homolog   ZMPSTE24 
  • mandibuloacral dysplasia with type B lipodystrophy; MADB  (608612) 
    		•  NM_005857 search NEIBank  10269   132642   SNP
    5 1p31.3   604566  asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)  ALG6 
  • congenital disorder of glycosylation type Ic; CDG1C  (603147) 
    		•  NM_013339 search NEIBank  29929   80042   SNP
    6 1p21   232400  amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III)  AGL 
  • glycogen storage disease  (232400) 
    		•  NM_000028 search NEIBank  178   904   SNP
    7 1q42.3   604934  beta-tubulin cofactor E   TBCE 
  • Kenny-Caffey syndrome, type 1; KCS  (244460) 
  • hypoparathyroidism-retardation-dysmorphism syndrome; HRD  (241410) 
    		•  NM_003193 search NEIBank  6905   498143   SNP
    8 1q42.1-q42.2   606897  lysosomal trafficking regulator  CHS1 
  • Chekiak-Higashi syndrome; CHS  (214500) 
    		•  NM_000081 search NEIBank  1130   532411   SNP
    9 1q32.3-q41   607199  interferon regulatory factor 6  IRF6 
  • popliteal pterygium syndrome; PPS  (119500) 
    		•  NM_006147 search NEIBank  3664   355827   SNP
    10 1q31-q32   151460  protein tyrosine phosphatase, receptor type, C  PTPRC 
  • susceptibility to multiple sclerosis; MS  (126200) 
    		•  NM_002838 search NEIBank  5788   192039   SNP
    11 1q22   159440  myelin protein zero  MPZ 
  • Charcot-Marie-Tooth disease, axonal type 2J  (607736) 
    		•  NM_000530 search NEIBank  4359   93883   SNP
    12 1q21-q23   182340  ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide  ATP1A2 
  • alternating hemiplegia of childhood  (104290) 
  • familial hemiplegic migraine 2; FHM2  (602481) 
    		•  NM_000702 search NEIBank  477   34114   SNP
    13 2p24-p21   604277  spastin  SPG4 
  • spastic paraplegia 4, autosomal dominant; SPG4  (182601) 
    		•  NM_014946 search NEIBank  6683   468091   SNP
    14 2p13-p12   601336  mannosyl-oligosaccharide glucosidase   GCS1 
  • congenital disorder of glycosylation, type IIb; CDG2B  (606056) 
    		•  NM_006302 search NEIBank  7841   516119   SNP
    15 2p12   604032  eukaryotic translation initiation factor 2-alpha kinase 3  EIF2AK3 
  • multiple epiphyseal dysplasia with early-onset diabetes mellitus  (226980) 
    		•  NM_004836 search NEIBank  9451   434326   SNP
    16 2q35-q37|2q35   606597  paired box 3  PAX3 
  • Waardenburg syndrome, type I; WS1  (193500) 
  • Waardenburg syndrome, type III; WS3  (148820) 
    		•  NM_181457 search NEIBank  5077   42146   SNP
    17 2q33-q34   100720  cholinergic receptor, nicotinic, delta  CHRND 
  • congenital fast-channel myasthenic syndrome  (608930) 
    		•  NM_000751 search NEIBank  1144   156289   SNP
    18 2q33   123890  cytotoxic T-lymphocyte-associated protein 4  CTLA4 
  • Graves disease  (275000) 
    		•  NM_001037631 search NEIBank  1493   247824   SNP
    19 2q33   604588  inducible T-cell co-stimulator  ICOS 
  • ICOS deficiency  (607594) 
    		•  NM_012092 search NEIBank  29851   56247   SNP
    20 2q31.1   147556  integrin, alpha 6  ITGA6 
  • epidermolysis bullosa with pyloric atresia  (226730) 
    		•  NM_000210 search NEIBank  3655   133397   SNP
    21 2q31   118423  Chimerin 1: CHN1  CHN1 
  • Duane Retraction Syndrome 2  (604356) 
    		•  NM_001025201 search NEIBank  1123   654534   SNP
    22 2q24-q32   100690  cholinergic receptor, nicotinic, alpha 1   CHRNA1 
  • congenital fast-channel myasthenic syndrome  (608930) 
  • slow-channel myasthenic syndrome, congenital; SCCMS  (601462) 
    		•  NM_000079 search NEIBank  1134   434419   SNP
    23 2q22   605802  zinc finger E-box binding homeobox 2  ZFHX1B 
  • Mowat-Wilson syndrome  (235730) 
    		•  NM_014795 search NEIBank  9839   34871   SNP
    24 2q13-q14   176860  protein C (inactivator of coagulation factors Va and VIIIa)  PROC 
  • thrombotic disease with neonatal vitreous hemorrhages  (176860) 
    		•  NM_000312 search NEIBank  5624   224698   SNP
    25 3p26-p25   608537  von Hippel-Lindau tumor suppressor  VHL 
  • von Hippel-Lindau syndrome; VHL  (193300) 
    		•  NM_000551 search NEIBank  7428   421597   SNP
    26 3p25   278720  xeroderma pigmentosum, complementation group C  XPC 
  • xeroderma pigmentosum complementation group C; XPC  (278720) 
    		•  NM_004628 search NEIBank  7508   475538   SNP
    27 3p25   603033  collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase  COLQ 
  • endplate acetylcholinesterase deficiency; EAD  (603034) 
    		•  NM_005677 search NEIBank  8292   146735   SNP
    28 3p24.2   190160  thyroid hormone receptor, beta  THRB 
  • thyroid hormone unresponsiveness  (274300) 
    		•  NM_000461 search NEIBank  7068   187861   SNP
    29 3p22-p21.1   168468  parathyroid hormone receptor 1  PTHR1 
  • metaphyseal chondrodysplasia, Jansen type  (156400) 
    		•  NM_000316 search NEIBank  5745   1019   SNP
    30 3p21.31   601267  chemokine (C-C motif) receptor 2  CCR2 
  • Uveitis  (PubMed Citation)
    		•  NM_000647 search NEIBank  1231   644637   SNP
    31 3p21.31   601373  chemokine (C-C motif) receptor 5  CCR5 
  • Uveitis  (PubMed Citation)
    		•  NM_000579 search NEIBank  1234   536735   SNP
    32 3p21.31   606609  three prime repair exonuclease 1  TREX1 
  • Aicardi-Goutieres syndrome-1; AGS1  (225750) 
  • retinal vasculopathy with cerebral leukodystrophy; CRV  (192315) 
    		•  NM_016381 search NEIBank  11277   694840   SNP
    33 3q28   603273  tumor protein p63  TP73L 
  • ADULT syndrome  (103285) 
  • ankyloblepharon-ectodermal defects-cleft lip/palate  (106260) 
  • ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3; EEC3  (604292) 
    		•  NM_003722 search NEIBank  8626   137569   SNP
    34 3q23   605597  forkhead box L2  FOXL2 
  • blepharophimosis, ptosis, and epicanthus inversus; BPES  (110100) 
    		•  NM_023067 search NEIBank  668   289292   SNP
    35 3q22-q24   601215  ataxia telangiectasia and Rad3 related  ATR 
  • Seckel syndrome 1  (210600) 
    		•  NM_001184 search NEIBank  545   271791   SNP
    36 4p16.3   143100  huntingtin  HD 
  • Huntington disease  (143100) 
    		•  NM_002111 search NEIBank  3064   518450   SNP
    37 4p16.3   602952  Wolf-Hirschhorn syndrome candidate 1  WHSC1 
  • Wolf-Hirschhorn syndrome; WHS  (194190) 
    		•  NM_133336 search NEIBank  7468   113876   SNP
    38 4p16.1   126453  dopamine receptor D5  DRD5 
  • benign essential blepharospasm  (606798) 
    		•  NM_000798 search NEIBank  1816   380681   SNP
    39 4q21.21   607830  Fraser syndrome 1  FRAS1 
  • Fraser syndrome  (219000) 
    		•  NM_025074 search NEIBank  80144   369448   SNP
    40 4q12   139200  group-specific component (vitamin D binding protein)  GC 
  • Graves disease  (275000) 
    		•  NM_000583 search NEIBank  2638   418497   SNP
    41 5q35.2-q35.3   604327  xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7  B4GALT7 
  • Ehlers-Danlos syndrome, progeroid form  (130070) 
    		•  NM_007255 search NEIBank  11285   455109   SNP
    42 5q35.2-q35.3   606681  nuclear receptor binding SET domain protein 1  NSD1 
  • Beckwith-Wiedemann syndrome; BWS  (130650) 
  • Sotos syndrome  (117550) 
  • Weaver syndrome  (277590) 
    		•  NM_022455 search NEIBank  64324   208961   SNP
    43 5q32-q33.1   606847  Treacher Collins-Franceschetti syndrome 1  TCOF1 
  • Treacher Collins-Franceschetti syndrome; TCOF  (154500) 
    		•  NM_000356 search NEIBank  6949   519672   SNP
    44 5q31-5q32   604325  protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform  PPP2R2B 
  • spinocerebellar ataxia 12; SCA12  (604326) 
    		•  NM_004576 search NEIBank  5521   193825   SNP
    45 6p21.3   120290  collagen, type XI, alpha 2  COL11A2 
  • Weissenbacher-Zweymuller syndrome; WZS  (277610) 
    		•  NM_080680 search NEIBank  1302   390171   SNP
    46 6p21.3   142830  major histocompatibility complex, class I, B  HLA-B 
  • ankylosing spondylitis  (106300) 
    		•  NM_005514 search NEIBank  3106   77961   SNP
    47 6p21.3   170261  transporter 2, ATP-binding cassette, sub-family B  TAP2 
  • bare lymphocyte syndrome, type 1  (604571) 
    		•  NM_000544 search NEIBank  6891   502   SNP
    48 6p21.3   191160  tumor necrosis factor   TNF 
  • Behcet syndrome  (109650) 
    		•  NM_000594 search NEIBank  7124   241570   SNP
    49 6p21.3   601962  TAP binding protein (tapasin)  TAPBP 
  • bare lymphocyte syndrome, type 1  (604571) 
    		•  NM_003190 search NEIBank  6892   370937   SNP
    50 6p21.1   603968  polymerase (DNA directed), eta  POLH 
  • xeroderma pigmentosum with normal DNA repair rates  (278750) 
    		•  NM_006502 search NEIBank  5429   439153   SNP
    51 6p21   600211  runt-related transcription factor 2  RUNX2 
  • cleidocranial dysplasia; CCD  (119600) 
    		•  NM_004348 search NEIBank  860   122116   SNP
    52 6p21-p12   601601  transcription factor AP-2 beta (activating enhancer binding protein 2 beta)  TFAP2B 
  • Char syndrome  (169100) 
    		•  NM_003221 search NEIBank  7021   33102   SNP
    53 6q26   173350  plasminogen  PLG 
  • ligneous conjunctivitis  (217090) 
    		•  NM_000301 search NEIBank  5340   143436   SNP
    54 6q24   607566  epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)  EPM2A 
  • myoclonic epilepsy of Lafora  (254780) 
    		•  NM_005670 search NEIBank  7957   486696   SNP
    55 6q22-q23   604714  TSPY-like 1  TSPYL1 
  • sudden infant death with dysgenesis of the testes syndrome; SIDDT  (608800) 
    		•  XM_371844 search NEIBank  7259   458358   SNP
    56 6q14-q15   604322  solute carrier family 17 (anion/sugar transporter), member 5  SLC17A5 
  • Finnish type sialuria  (604369) 
  • infantile sialic acid storage disorder  (269920) 
    		•  NM_012434 search NEIBank  26503   485760   SNP
    57 7p21.2   601622  twist homolog 1  TWIST 
  • Robinow-Sorauf syndrome  (180750) 
  • Saethre-Chotzen syndrome; SCS  (101400) 
    		•  NM_000474 search NEIBank  7291   66744   SNP
    58 7p11   107930  dopa decarboxylase (aromatic L-amino acid decarboxylase)  DDC 
  • aromatic L-amino acid decarboxylase deficiency  (608643) 
    		•  NM_000790 search NEIBank  1644   359698   SNP
    59 7q36   600725  sonic hedgehog homolog  SHH 
  • holoprosencephaly 3; HPE3  (142945) 
  • ocular coloboma  (120200) 
  • solitary median maxillary central incisor; SMMCI  (147250) 
    		•  NM_000193 search NEIBank  6469   121539   SNP
    60 7q31.3   605113  aminoadipate-semialdehyde synthase  AASS 
  • hyperlysinemia  (238700) 
    		•  NM_005763 search NEIBank  10157   528295   SNP
    61 7q22.1   120160  collagen, type I, alpha 2  COLA2 
  • osteogenesis imperfecta, type 1  (166200) 
  • progressively deforming osteogenesis imperfecta with normal sclerae  (259420) 
    		•  NM_000089 search NEIBank  1278   489142   SNP
    62 7q11.23   601329  LIM domain kinase 1  LIMK1 
  • Williams-Beuren syndrome; WBS  (194050) 
    		•  NM_002314 search NEIBank  3984   647035   SNP
    63 7q11.2   124015  P450 (cytochrome) oxidoreductase  POR 
  • Antley-Bixler syndrome; ABS  (207410) 
    		•  NM_000941 search NEIBank  5447   354056   SNP
    64 8p23.1   607117  microcephalin 1  MCPH1 
  • premature chromosome condensation with microcephaly and mental retardation  (606858) 
    		•  NM_024596 search NEIBank  79648   490892   SNP
    65 8p11.2-p11.1   136350  fibroblast growth factor receptor 1  FGFR1 
  • Pfeiffer syndrome  (101600) 
    		•  NM_000604 search NEIBank  2260   264887   SNP
    66 8q24.12   604386  trichorhinophalangeal syndrome I  TRPS1 
  • Langer-Giedion syndrome; LGS  (150230) 
  • trichorhinophalangeal syndrome, type I; TRPS1  (190350) 
  • trichorhinophalangeal syndrome, type III; TRPS3  (190351) 
    		•  NM_014112 search NEIBank  7227   253594   SNP
    67 8q24.11-q24.13   608177  exostoses (multiple) 1  EXT1 
  • Langer-Giedion syndrome; LGS  (150230) 
    		•  NM_000127 search NEIBank  2131   492618   SNP
    68 9p23   115501  tyrosinase-related protein 1  TYRP1 
  • oculocutaneous albinism, type III; OCA3  (203290) 
  • rufous oculocutaneous albinism; ROCA  (278400) 
    		•  NM_000550 search NEIBank  7306   270279   SNP
    69 9p21   600160  cyclin-dependent kinase inhibitor 2A  CMM 
  • cutaneous malignant melanoma, CMM  (155600) 
    		•  NM_058195 search NEIBank  1029   512599   SNP
    70 9p13.2   603824  glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase  GNE 
  • sialuria  (269921) 
    		•  NM_005476 search NEIBank  10020   5920   SNP
    71 9q34.13   608465  senataxin  SETX 
  • non-Friedreich spinocerebellar ataxia, type 1, recessive  (606002) 
    		•  NM_015046 search NEIBank  23064   460317   SNP
    72 9q34   605204  torsin family 1, member A   DYT1 
  • torsion dystonia 1, autosomal dominant; DYT1  (128100) 
    		•  NM_000113 search NEIBank  1861   534312   SNP
    73 9q34   605284  tuberous sclerosis 1  TSC1 
  • tuberous sclerosis; TS  (191100) 
    		•  NM_000368 search NEIBank  7248   370854   SNP
    74 9q31   603722  inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein  IKBKAP 
  • hereditary sensory and autonomic neuropathy, type III; HSAN3  (223900) 
    		•  NM_003640 search NEIBank  8518   494738   SNP
    75 9q22.3   278700  xeroderma pigmentosum, complementation group A  XPA 
  • de Sanctis-Cacchione syndrome  (278800) 
    		•  NM_000380 search NEIBank  7507   288867   SNP
    76 9q22.3   601309  patched homolog 1  PTCH 
  • basal cell nevus syndrome; BCNS  (109400) 
    		•  NM_000264 search NEIBank  5727   494538   SNP
    77 9q22   602337  receptor tyrosine kinase-like orphan receptor 2  ROR2 
  • Robinow syndrome, autosomal recessive  (268310) 
    		•  NM_004560 search NEIBank  4920   98255   SNP
    78 9q13-q21.1   606829  frataxin  FRDA 
  • Friedreich ataxia 1; FRDA  (229300) 
    		•  NM_000144 search NEIBank  2395   29978   SNP
    79 10q11.2   118490  choline acetyltransferase  CHAT 
  • congenital myasthenic syndrome associated with episodic apnea  (254210) 
    		•  NM_020984 search NEIBank  1103   302002   SNP
    80 10q11.2   164761  ret proto-oncogene  RET 
  • multiple endocrine neoplasia, type IIB; MEN2B  (162300) 
    		•  NM_020975 search NEIBank  5979   350321   SNP
    81 11p15.5   190020  v-Ha-ras Harvey rat sarcoma viral oncogene homolog  HRAS 
  • Costello syndrome  (218040) 
    		•  NM_005343 search NEIBank  3265   37003   SNP
    82 11p15.5   191043  troponin I type 2  TNNI2 
  • distal arthrogryposis, type 2B; AMCD2B  (601680) 
    		•  NM_003282 search NEIBank  7136   523403   SNP
    83 11p13   179615  recombination activating gene 1  RAG1 
  • severe combined immunodeficiency, T cell-negative, B cell-negative, natural killer cell-positive  (601457) 
    		•  NM_000448 search NEIBank  5896   73958   SNP
    84 11p13   179616  recombination activating gene 2  RAG2 
  • severe combined immunodeficiency, T cell-negative, B cell-negative, natural killer cell-positive  (601457) 
    		•  NM_000536 search NEIBank  5897   159376   SNP
    85 11p12-p11   600811  damage-specific DNA binding protein 2, 48kDa  DDB2 
  • xeroderma pigmentosum, complementation group E  (278740) 
    		•  NM_000107 search NEIBank  1643   446564   SNP
    86 11p11.2-p11.1   601592  receptor-associated protein of the synapse  RAPSN 
  • myasthenic syndrome  (601592) 
    		•  NM_005055 search NEIBank  5913   81218   SNP
    87 11q24.2   608630  roundabout, axon guidance receptor, homolog 3  HGPPS 
  • familial horizontal gaze palsy with progressive scoliosis; HGPPS  (607313) 
    		•  NM_022370 search NEIBank  64221   435621   SNP
    88 11q23.3   191350  dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)  DPAGT2 
  • congenital disorder of glycosylation, type Ij; CDG1J  (608093) 
    		•  NM_001382 search NEIBank  1798   524081   SNP
    89 11q23.3   602286  sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like  SC5DL 
  • lathosterolosis  (607330) 
    		•  NM_006918 search NEIBank  6309   287749   SNP
    90 11q23.3   602671  solute carrier family 37 (glucose-6-phosphate transporter), member 4  SLC37A4 
  • glycogen storage disease Ib  (232220) 
    		•  NM_001467 search NEIBank  2542   132760   SNP
    91 11q22-q23   607858  ataxia telangiectasia mutated   
  • ataxia-telangiectasia; AT  (208900) 
    		•  NM_000051 search NEIBank  472   435561   SNP
    92 11q13.2   602753  paired-like homeobox 2a  PHOX2A 
  • congenital fibrosis of extraocular muscles 2; FEOM2  (602078) 
    		•  NM_005169 search NEIBank  401   276879   SNP
    93 12p13.3   608620  hereditary sensory neuropathy, type II  HSN2 
  • hereditary sensory and autonomic neuropathy, type II; HSAN2  (201300) 
    		•  NM_213655 search NEIBank  378465   356604   SNP
    94 12p12.1   190070  v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog  KRAS 
  • Costello syndrome  (218040) 
  • cardiofaciocutaneous syndrome  (115150) 
    		•  NM_033360 search NEIBank  3845   505033   SNP
    95 12q24.1   601517  ataxin 2  ATX2 
  • spinocerebellar ataxia 2; SCA2  (183090) 
    		•  NM_002973 search NEIBank  6311   76253   SNP
    96 12q24   176876  protein tyrosine phosphatase, non-receptor type 11  PTPN11 
  • LEOPARD syndrome 1  (151100) 
  • Noonan-like/multiple giant cell lesion syndrome  (163955) 
    		•  NM_002834 search NEIBank  5781   506852   SNP
    97 12q22-q23   147440  insulin-like growth factor 1 (somatomedin C)  IGF1 
  • inculin-like growth factor I deficiency  (608747) 
    		•  NM_000618 search NEIBank  3479   160562   SNP
    98 12q21   159991  myogenic factor 6 (herculin)  MYF6 
  • centronuclear myopathy, autosomal dominant  (160150) 
    		•  NM_002469 search NEIBank  4618   35937   SNP
    99 12q13.2   606887  sulfite oxidase  SUOX 
  • sulfocysteinuria  (272300) 
    		•  NM_000456 search NEIBank  6821   534353   SNP
    100 12q13   601769  vitamin D (1,25- dihydroxyvitamin D3) receptor  VDR 
  • Graves disease  (275000) 
    		•  NM_000376 search NEIBank  7421   524368   SNP
    101 12q12   608283  kinesin family member 21A  KIF21A 
  • congenital fibrosis of extraocular muslces 1; FEOM1  (135700) 
    		•  NM_017641 search NEIBank  55605   374201   SNP
    102 13q21   603680  ataxin 8 opposite strand  SCA8 
  • spinocerebellar ataxia 8; SCA8  (608768) 
    		•  AF126749 search NEIBank  6315   286079   SNP
    103 13q14.2   180200  retinoblastoma 1  RB1 
  • retinoblastoma  (180200) 
    		•  NM_000321 search NEIBank  5925   408528   SNP
    104 13q13   608945  FRAS1 related extracellular matrix protein 2  FREM2 
  • Fraser syndrome  (219000) 
    		•  NM_207361 search NEIBank  341640   253994   SNP
    105 13q12   604490  spastic ataxia of Charlevoix-Saguenay (sacsin)  SACS 
  • spastic ataxia, Charlevoix-Saguenay type; SACS  (270550) 
    		•  NM_014363 search NEIBank  26278   159492   SNP
    106 14q24.3   601015  Niemann-Pick disease, type C2  NPC2 
  • Niemann-Pick disease type C2  (607625) 
    		•  NM_006432 search NEIBank  10577   433222   SNP
    107 14q24.3-q32.2   607047  ataxin 3  MJD 
  • Machado-Joseph disease; MJD  (109150) 
    		•  NM_004993 search NEIBank  4287   510270   SNP
    108 14q11.2-q13   602279  poly(A) binding protein, nuclear 1  OPMD 
  • oculopharyngeal muscular dystrophy, autosomal recessive  (257950) 
  • oculopharyngeal muscular dystrophy; OPMD  (164300) 
    		•  NM_004643 search NEIBank  8106   117176   SNP
    109 15q23-q24   606869  hexosaminidase A  HEXA 
  • Tay-Sachs disease; TSD  (272800) 
    		•  NM_000520 search NEIBank  3073   513008   SNP
    110 15q21   160777  myosin VA (heavy chain 12, myoxin)  MYO5A 
  • Elejalde syndrome  (256710) 
    		•  NM_00259 search NEIBank  4644   21213   SNP
    111 15q11.2-q12   203200  oculocutaneous albinism II  OCA2 
  • oculocutaneous albinism, type II  (203200) 
    		•  NM_000275 search NEIBank  4948   130937   SNP
    112 15q11-q13   601623  ubiquitin protein ligase E3A  UBE3A 
  • Angelman syndrome; AS  (105830) 
    		•  NM_130838 search NEIBank  7337   22543   SNP
    113 16p13.3   191092  tuberous sclerosis 2  TSC2 
  • tuberous sclerosis; TS  (191100) 
    		•  NM_000548 search NEIBank  7249   90303   SNP
    114 16p13.3   605907  asparagine-linked glycosylation 1 homolog  ALG1 
  • congenital disorder of glycosylation, type Ik; CDG1K  (608540) 
    		•  NM_019109 search NEIBank  56052   406461   SNP
    115 16p13.3   607838  N-acetylglucosamine-1-phosphate transferase, gamma subunit  GNPTAG 
  • mucolipidosis III gamma  (252605) 
    		•  NM_032520 search NEIBank  84572   241575   SNP
    116 16q22-q24   103850  aldolase A, fructose-bisphosphate  ALDOA 
  • aldolase deficiency  (103850) 
    		•  NM_000034 search NEIBank  226   513490   SNP
    117 16q22-16q24   602402  forkhead box C2  FOXC2 
  • lymphedema and ptosis  (153000) 
  • lymphedema-distichiasis syndrome  (153400) 
    		•  NM_005251 search NEIBank  2303   436448   SNP
    118 16q21   605956  nucleotide-binding oligomerization domain containing 2  CARD15 
  • granulomatous synovitis with uveitis and cranial neuropathies  (186580) 
    		•  NM_022162 search NEIBank  64127   135201   SNP
    119 16q12.2-q21   604110  G protein-coupled receptor 56  GPR56 
  • polymicrogyria, bilateral frontoparietal  (606854) 
    		•  NM_005682 search NEIBank  9289   513633   SNP
    120 16q12.2   610937  RPGRIP1-like  RPGRIP1L 
  • Recessive Joubert Syndrome  
    		•  NM_015272 search NEIBank  23322   298382   SNP
    121 17p13.1   160720  myosin, heavy chain 3, skeletal muscle, embryonic  MYH3 
  • arthrogryposis type 2A; DA2A  (193700) 
    		•  NM_002470 search NEIBank  4621   440895   SNP
    122 17p13-p12   100725  cholinergic receptor, nicotinic, epsilon  CHRNE 
  • congenital fast-channel myasthenic syndrome  (608930) 
  • congenital myasthenic syndrome associated with acetylcholine receptor deficiency  (608931) 
    		•  NM_000080 search NEIBank  1145   313227   SNP
    123 17q25   147557  integrin, beta 4  ITGB4 
  • epidermolysis bullosa with pyloric atresia  (226730) 
    		•  NM_000213 search NEIBank  3691   632226   SNP
    124 17q24.3-q25.1   608160  SRY (sex determining region Y)-box 9  SOX9 
  • campomelic dysplasia  (114290) 
    		•  NM_000346 search NEIBank  6662   2316   SNP
    125 17q23-q24   188830  protein kinase, cAMP-dependent, regulatory, type I, alpha   PRKAR1A 
  • Carney complex type 1; CNC1  (160980) 
    		•  NM_002734 search NEIBank  5573   280342   SNP
    126 17q23   604983  polymerase (DNA directed), gamma 2, accessory subunit  POLG2 
  • progressive external ophthalmoplegia with mitochondrial DNA deletions-4, autosomal dominant; PEOA4  (610131) 
    		•  NM_007215 search NEIBank  11232   437009   SNP
    127 17q21.3-q22.1   120150  collagen, type I, alpha 1  COL1A1 
  • osteogenesis imperfecta congenita; OIC  (166210) 
  • osteogenesis imperfecta, type 1  (166200) 
  • osteogenesis imperfecta, type IV  (166220) 
  • progressively deforming osteogenesis imperfecta with normal sclerae  (259420) 
    		•  NM_000088 search NEIBank  1277   172928   SNP
    128 17q21.1   157140  microtubule-associated protein tau  MAPT 
  • progressive supranuclear palsy; PSP  (601104) 
    		•  NM_016835 search NEIBank  4137   101174   SNP
    129 17q21   232200  glucose-6-phosphatase, catalytic subunit  G6PC 
  • lipemia retinalis  (232200) 
    		•  NM_000151 search NEIBank  2538   212293   SNP
    130 17q21-q22   602991  noggin  NOG 
  • multiple synostoses syndrome 1; SYNS1  (186500) 
  • stapes ankylosis with broad thumb and toes  (184460) 
    		•  NM_005450 search NEIBank  9241   248201   SNP
    131 17q11.2-q12   158105  chemokine (C-C motif) ligand 2  CCL2 
  • Uveitis  (PubMed Citation)
    		•  NM_002982 search NEIBank  6347   303649   SNP
    132 17q11.2-q12   187011  chemokine (C-C motif) ligand 5  CCL5 
  • Uveitis  (PubMed Citation)
    		•  NM_002985 search NEIBank  6352   514821   SNP
    133 18p11.3   602630  TGFB-induced factor homeobox 1  TGIF 
  • holoprosencephaly 4; HPE4  (142946) 
    		•  NM_170695 search NEIBank  7050   373550   SNP
    134 18q12.1   176300  transthyretin   TTR 
  • amyloidosis VII  (105210) 
    		•  NM_000371 search NEIBank  7276   427202   SNP
    135 18q11.2   600805  laminin, alpha 3  LAMA3 
  • laryngoonychocutaneous syndrome; LOCS  (245660) 
    		•  NM_198129 search NEIBank  3909   436367   SNP
    136 18q11-q12   607623  Niemann-Pick disease, type C1  NPC1 
  • Niemann-Pick disease type C1; NPC1  (257220) 
    		•  NM_000271 search NEIBank  4864   464779   SNP
    137 19p13.3-p13.2   147670  insulin receptor  INSR 
  • Donohue syndrome  (246200) 
    		•  NM_000208 search NEIBank  3643   465744   SNP
    138 19p13.3   608179  ataxia, cerebellar, Cayman type (caytaxin)  ATCAY 
  • Cayman cerebellar ataxia; ATCAY  (601238) 
    		•  NM_033064 search NEIBank  85300   418055   SNP
    139 19p13.2-p13.1   601011  calcium channel, voltage-dependent, P/Q type, alpha 1A subunit  CACNA1A 
  • episodic ataxia, type 2; EA2  (108500) 
  • spinocerebellar ataxia 6; SCA6  (183086) 
    		•  NM_000068 search NEIBank  773   408449   SNP
    140 19p13.2   602378  dynamin 2  DNM2 
  • centronuclear myopathy, autosomal dominant  (160150) 
    		•  NM_001005360 search NEIBank  1785   211463   SNP
    141 19q13.4   176980  protein kinase C, gamma  PRKCG 
  • spinocerebellar ataxia 14; SCA14  (605361) 
    		•  NM_002739 search NEIBank  5582   2890   SNP
    142 19q13.2   608083  apolipoprotein C-II  APOC2 
  • apolipoprotein C-II deficiency  (207750) 
    		•  NM_000483 search NEIBank  344   75615   SNP
    143 19q12-q13.2   170100  peptidase D  PEPD 
  • ptosis  (170100) 
    		•  NM_000285 search NEIBank  5184   36473   SNP
    144 20pter-p12   176640  prion protein (p27-30)  PRNP 
  • familial fatal insomnia; FFI  (600072) 
    		•  NM_000311 search NEIBank  5621   472010   SNP
    145 20q13.13   603503  dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit  DPM1 
  • congenital disorder of glycosylation, type Ie; CDG1E  (608799) 
    		•  NM_003859 search NEIBank  8813   473041   SNP
    146 21q22.3   607358  autoimmune regulator  AIRE 
  • autoimmune polyglandular syndrome type I; APS1  (240300) 
    		•  NM_000383 search NEIBank  326   129829   SNP
    147 22q13.33   604272  SCO cytochrome oxidase deficient homolog 2  SCO2 
  • fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency  (604377) 
    		•  NM_005138 search NEIBank  9997   410944   SNP
    148 22q13.31   603516  ataxin 10  ATXN10 
  • spinocerebellar ataxia 10  (603516) 
    		•  NM_013236 search NEIBank  25814   475125   SNP
    149 22q11.21-q11.23   188400  DiGeorge syndrome chromosome region  DGS 
  • velocardiofacial syndrome  (192430) 
    		•  NM_00599 search NEIBank  1714   173984   SNP
    150 22q11.21   602054  T-box 1  TBX1 
  • DiGeorge syndrome; DGS  (188400) 
    		•  NM_080646 search NEIBank  6899   173984   SNP
    151 Xp22.3-p22.2   311860  phosphoribosyl pyrophosphate synthetase 2  PRPS2 
  • hypotelorism hyperopia  (311860) 
    		•  NM_002765 search NEIBank  5634   104123   SNP
    152 Xp22.2-p22.1   300075  ribosomal protein S6 kinase, 90kDa, polypeptide 3  RPS6KA3 
  • Coffin-Lowry syndrome; CLS  (303600) 
    		•  NM_004586 search NEIBank  6197   445387   SNP
    153 Xp22.2-p22.3   300170  oral-facial-digital syndrome 1  OFD1 
  • oral-facial-digital syndrome type I; OFD1  (311200) 
    		•  NM_003611 search NEIBank  8481   6483   SNP
    154 Xp22.2-p22.1   300502  pyruvate dehydrogenase (lipoamide) alpha 1  PDHA1 
  • Leigh syndrome, X-linked  (308930) 
  • pyruvate decarboxylase deficiency  (312170) 
    		•  NM_000284 search NEIBank  5160   530331   SNP
    155 Xp22   300552  midline 1  MID1 
  • Opitz syndrome  (300000) 
    		•  NM_000381 search NEIBank  4281   27695   SNP
    156 Xp21.3   300474  glycerol kinase  GK 
  • hyperflycerolemia  (307030) 
    		•  NM_203391 search NEIBank  2710   1466   SNP
    157 Xp11.21   305400  FYVE, RhoGEF and PH domain containing 1 (faciogenital dysplasia)   FGD1 
  • faciogenital dysplasia  (305400) 
    		•  NM_004463 search NEIBank  2245   522663   SNP
    158 Xq12   300035  ephrin-B1  EFNB1 
  • craniofrontonasal syndrome; CFNS  (304110) 
    		•  NM_004429 search NEIBank  1947   144700   SNP
    159 Xq12-q13.1   300451  ectodysplasin A  ED1 
  • anhidrotic ectodermal dysplasia 1; ED1  (305100) 
    		•  NM_001399 search NEIBank  1896   105407   SNP
    160 Xq13.1-q21.1   300032  alpha thalassemia/mental retardation syndrome X-linked  ATRX 
  • alpha-thalassemia/mental retardation syndrome, nondeletion-type, X-lnked; ATRX  (301040) 
    		•  NM_000489 search NEIBank  546   533526   SNP
    161 Xq21.33-q22   300300  Bruton agammaglobulinemia tyrosine kinase  BTK 
  • hypogammaglobulinemia and isolated growth hormone deficiency, X-linked  (307200) 
    		•  NM_000061 search NEIBank  695   159494   SNP
    162 Xq26   300414  PHD finger protein 6  PHF6 
  • Borjeson-Forssman-Lehmann syndrome; BFLS  (301900) 
    		•  NM_032335 search NEIBank  84295   356501   SNP
    163 Xq26-q27   300628  FERM domain containing 7  FRMD7 
  • congenital nystagmus 1, X-linked; NYS1  (310700) 
    		•  NM_194277 search NEIBank  90167   170776   SNP
    164 Xq28   300017  filamin A, alpha  FLNA 
  • Melnick-Needles syndrome; MNS  (309350) 
  • frontometaphyseal dysplasia; FMD  (305620) 
  • otopalatodigital syndrome, type I; OPD1  (311300) 
  • otopalatodigital syndrome, type II; OPD2  (304120) 
    		•  NM_001456 search NEIBank  2316   195464   SNP
    165 Xq28   300415  myotubularin 1  MTM1 
  • myotubular myopathy 1; MTM1  (310400) 
    		•  NM_000252 search NEIBank  4534   434285   SNP
    166 Xq28   308840  L1 cell adhesion molecule  L1CAM 
  • MASA syndrome  (303350) 
    		•  NM_000425 search NEIBank  3897   522818   SNP
    167 mitochondria   590025  mitochondrially encoded tRNA glutamic acid MTTE 
  • mitochondrial myopathy with diabetes  (500002) 
    		•  NC_001807 search NEIBank  4556     SNP


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