Human Genome Build: March 2006

View Other Disease Genes with Eye Phenotypes
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 1pter   611632  UbiA prenyltransferase domain containing 1  UBIAD1 
  • corneal dystrophy, crystalline, of Schnyder  (121800) 
    		•  NM_013319 search NEIBank  29914   522933   SNP
    2 1p36.3-p36.2   153454  procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1  PLOD 
  • Ehlers-Danlos syndrome, type VI  (225400) 
    		•  NM_000302 search NEIBank  5351   75093   SNP
    3 1p36.22   607215  nephronophthisis 4  NPHP4 
  • Senior-Loken syndrome 4; SLSN4  (606996) 
  • Senior-Loken syndrome-1  (266900) 
    		•  NM_015102 search NEIBank  261734   462348   SNP
    4 1p36.1-p34   142461  heparan sulfate proteoglycan 2  HSPG2 
  • Schwartz-Jampel syndrome, type I; SJS1  (255800) 
    		•  NM_005529 search NEIBank  3339   467545   SNP
    5 1p36   176946  ephrin receptor EphA2; EPHA2  EPHA2 
  • (REF: Mol. Vis.)  
    		•  NM_004431 search NEIBank  1969   171596   SNP
    6 1p34.2   120252  collagen, type VIII, alpha 2  COL8A2 
  • Fuchs endothelial corneal dystrophy  (136800) 
    		•  NM_005202 search NEIBank  1296   353001   SNP
    7 1p34.2   610036  claudin 19  CLDN19 
  • hypomagnesmia, renal, with ocular involvement  (248190) 
    		•  NM_148960 search NEIBank  149461   496270   SNP
    8 1p34.1   606273  eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa  EIF2B3 
  • leukoencephalopathy with vanishing white matter; VWM  (603896) 
    		•  NM_020365 search NEIBank  8891   533549   SNP
    9 1p34.1   606822  protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase  POMGNT1 
  • muscle-eye-brain disease; MEB  (253280) 
    		•  NM_017739 search NEIBank  55624   525134   SNP
    10 1p34   177075  v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian)  MAF 
  • cataract-microcornea syndrome  (116150) 
  • juvenile-onset pulverulent cataract  (610202) 
    		•  NM_001031804 search NEIBank  4094   592063   SNP
    11 1p32-p31   137290  tumor-associated calcium signal transducer 2  TACSTD2 
  • gelatinous drop-like corneal dystrophy  (204870) 
    		•  NM_002353 search NEIBank  4070   23582   SNP
    12 1p32   600650  carnitine palmitoyltransferase II  CPT2 
  • carnitine palmitoyltransferase II deficiency, lethal neonatal  (608836) 
    		•  NM_000098 search NEIBank  1376   274336   SNP
    13 1p32   600722  palmitoyl-protein thioesterase 1 (ceroid-lipofuscinosis, neuronal 1, infantile)  PPT1 
  • neuronal ceroid lipofuscinosis 1; CLN1  (256730) 
    		•  NM_000310 search NEIBank  5538   3873   SNP
    14 1p32   601094  forkhead box E3  FOXE3 
  • anterior segment mesenchymal dysgenesis; ASMD  (107250) 
  • congenital primary aphakia  (610256) 
    		•  NM_012186 search NEIBank  2301   112968   SNP
    15 1p31   180069  retinal pigment epithelium-specific protein 65kDa  RPE65 
  • Leber congenital amaurosis  (204100) 
    		•  NM_000329 search NEIBank  6121   2133   SNP
    16 1p22.1-p21   601691  ATP-binding cassette, sub-family A (ABC1), member 4  ABCA4 
  • Stargardt disease 1; STGD1  (248200) 
  • age-related macular degeneration 2; AMD2  (153800) 
  • cone-rod dystrophy 3; CORD3  (604116) 
  • retinitis pigmentosa 19; RP19  (601718) 
    		•  NM_000350 search NEIBank  24   416707   SNP
    17 1p22-p21   170995  ATP-binding cassette, sub-family D (ALD), member 3  ABCD3 
  • Zellweger syndrome 2; ZWS2  (170995) 
    		•  NM_002858 search NEIBank  5825   76781   SNP
    18 1p21   120280  collagen, type XI, alpha 1  COL11A1 
  • Marshall syndrome  (154780) 
  • Stickler syndrome type II; STL2  (604841) 
    		•  NM_001854 search NEIBank  1301   523446   SNP
    19 1p13.3   600716  protein tyrosine phosphatase, non-receptor type 22 (lymphoid)  PTPN22 
  • Behcet syndrome  (109650) 
    		•  NM_012411 search NEIBank  26191   535276   SNP
    20 1p13.1   139340  guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2  GNAT2 
  • achromatopsia 4  (139340) 
    		•  NM_005272 search NEIBank  2780   36973   SNP
    21 1p12   606879  phosphoglycerate dehydrogenase  PHGDH 
  • phosphoglycerate dehydrogenase deficiency  (601815) 
    		•  NM_006623 search NEIBank  26227   487296   SNP
    22 1q42.11-42.3   602744  glyceronephosphate O-acyltransferase  GNPAT 
  • type 2 rhizomelic chondrodysplasia punctata; RCDP2  (222765) 
    		•  NM_014236 search NEIBank  8443   498028   SNP
    23 1q41   608400  Usher syndrome 2A (autosomal recessive, mild)  USH2A 
  • Usher Syndrome type IIA; USH2A  (276901) 
  • retinitis pigmentosa 39; RP39  (608400) 
    		•  NM_007123 search NEIBank  7399   232072   SNP
    24 1q41   609275  RAB3 GTPase activating protein subunit 2 (non-catalytic)  RAB3GAP2 
  • Martsolf syndrome  (212720) 
    		•  NM_012414 search NEIBank  25782   654849   SNP
    25 1q32.3   180040  retinal degeneration 3  RD3 
  • Leber congenital amaurosis, type XII; LCA12  (610612) 
    		•  NM_183059 search NEIBank  343035   632495   SNP
    26 1q32.1   605127  opticin  OPTC 
  • High Myopia  (PubMed Citation)
    		•  NM_014359 search NEIBank  26254   632468   SNP
    27 1q32   134370  complement factor H  CFH 
  • macular degeneration, age-related, 4; ARMD4  (610698) 
    		•  NM_000186 search NEIBank  3075   363396   SNP
    28 1q32   134371  complement factor H-related 1  CFHR1 
  • age-related macular degeneration 1; ARMD1  (603075) 
    		•  NM_002113 search NEIBank  3078   575869   SNP
    29 1q32   600245  fibromodulin  FMOD 
  • High Myopia  (PubMed Citation)
    		•  NM_002023 search NEIBank  2331   519168   SNP
    30 1q32   605336  complement factor H-related 3  CFHR3 
  • age-related macular degeneration 1; ARMD1  (603075) 
    		•  NM_021023 search NEIBank  10878   575869   SNP
    31 1q31-q32.1   604210  crumbs homolog 1 (Drosophila)  CRB1 
  • retinitis pigmentosa 12; RP12  (600105) 
    		•  NM_201253 search NEIBank  23418   126135   SNP
    32 1q25.3-q31.1   608548  hemicentin 1  HMCN1 
  • age-related macular degeneration 1; ARMD1  (603075) 
    		•  NM_031935 search NEIBank  83872   58877   SNP
    33 1q23-q24   601652  myocilin, trabecular meshwork inducible glucocorticoid response  MYOC 
  • glaucoma 1, open angle, A; GLC1  (137750) 
    		•  NM_000261 search NEIBank  4653   436037   SNP
    34 1q22   607292  sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A  SEMA4A 
  • retinitis pigmentosa 35; RP35  (610282) 
    		•  NM_022367 search NEIBank  64218   408846   SNP
    35 1q21.1   600897  gap junction protein, alpha 8, 50kDa  GJA8 
  • zonular pulverulent cataract 1; CZP1  (116200) 
    		•  NM_005267 search NEIBank  2703   157433   SNP
    36 1q21.1   607301  PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)  PRPF3 
  • retinitis pigmentosa 18; RP18  (601414) 
    		•  NM_004698 search NEIBank  9129   11776   SNP
    37 1q21-q22   191315  neurotrophic tyrosine kinase, receptor, type 1  NTRK1 
  • insensitivity to pain with anhidrosis; CIPA  (256800) 
    		•  NM_002529 search NEIBank  4914   406293   SNP
    38 1q21   602201  extracellular matrix protein 1  ECM1 
  • lipoid proteinosis of Urbach and Wiethe  (247100) 
    		•  NM_004425 search NEIBank  1893   81071   SNP
    39 1q21   606463  glucosidase, beta; acid (includes glucosylceramidase)  GBA 
  • Gaucher disease, type I  (230800) 
  • Gaucher disease, type II  (230900) 
    		•  NM_000157 search NEIBank  2629   282997   SNP
    40 2p24-p23   107730  apolipoprotein B   APOB 
  • hypercholesterolemia, autosomal dominant, type B  (144010) 
    		•  NM_000384 search NEIBank  338   120759   SNP
    41 2p23.3   606687  eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa  EIF2B4 
  • leukoencephalopathy with vanishing white matter; VWM  (603896) 
    		•  NM_015636 search NEIBank  8890   169474   SNP
    42 2p23   600890  hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit  HADHA 
  • Leber congenital amaurosis  (204100) 
    		•  NM_000182 search NEIBank  3030   516032   SNP
    43 2p21   601771  cytochrome P450, family 1, subfamily B, polypeptide 1  CYP1B1 
  • glaucoma 3, primary congenital, A; GLC3A  (231300) 
    		•  NM_000104 search NEIBank  1545   154654   SNP
    44 2p21   607544  leucine-rich PPR-motif containing  LRPPRC 
  • Leigh syndrome  (256000) 
    		•  NM_133259 search NEIBank  10128   368084   SNP
    45 2p16   601548  EGF-containing fibulin-like extracellular matrix protein 1  EFEMP1 
  • Doyne honeycomb retinal dystrophy; DHRD  (126600) 
    		•  NM_004105 search NEIBank  2202   76224   SNP
    46 2p16-p21   603714  SIX homeobox 3  SIX3 
  • holoprosencephaly-2; HPE2  (157170) 
    		•  NM_005413 search NEIBank  6496   227277   SNP
    47 2p13   606844  Alstrom syndrome 1  ALMS1 
  • Alstrom syndrome; ALMS  (203800) 
    		•  NM_015120 search NEIBank  7840   184720   SNP
    48 2p11.2   180430  ribose 5-phosphate isomerase A (ribose 5-phosphate epimerase)  RPIA 
  • ribose 5-phosphate isomerase deficiency  (608611) 
    		•  NM_144563 search NEIBank  22934   469264   SNP
    49 2q37.1   181031  S-antigen; retina and pineal gland (arrestin)  SAG 
  • Oguchi disease  (258100) 
    		•  NM_000541 search NEIBank  6295   32721   SNP
    50 2q37   603208  POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 13; KCNJ13  KCNJ13 
  • VITREORETINAL DEGENERATION, SNOWFLAKE TYPE  (193230) 
    		•  NM_002242 search NEIBank  3769   467338   SNP
    51 2q36-q37   120070  collagen, type IV, alpha 3  COL4A3 
  • Alport syndrome, autosomal recessive  (203780) 
    		•  NM_000091 search NEIBank  1285   471525   SNP
    52 2q36-q37   604285  alanine-glyoxylate aminotransferase  AGXT 
  • type I primary hyperoxaluria  (259900) 
    		•  NM_000030 search NEIBank  189   144567   SNP
    53 2q35-q37   120131  collagen, type IV, alpha 4  COL4A4 
  • Alport syndrome, autosomal recessive  (203780) 
    		•  NM_000092 search NEIBank  1286   282938   SNP
    54 2q35   601731  5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase  ATIC 
  • AICAR transformylase/IMP cyclohydrolase deficiency  (608688) 
    		•  NM_004044 search NEIBank  471   90280   SNP
    55 2q34-q35   606622  SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1  SMARCAL1 
  • Schimke immunoosseous dysplasia  (242900) 
    		•  NM_014140 search NEIBank  50485   516674   SNP
    56 2q33.3   609414  phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III  PIP5K3 
  • corneal fleck dystrophy  (121850) 
    		•  NM_015040 search NEIBank  200576   173939   SNP
    57 2q33-q35   123680  crystallin, gamma C  CRYGC 
  • Coppock-like cataract; CCL  (604307) 
    		•  NM_020989 search NEIBank  1420   72910   SNP
    58 2q33-q35   123690  crystallin, gamma D  CRYGD 
  • aculeiform cataract  (115700) 
  • autosomal dominant nonnuclear congenital polymorphic cataract  (601286) 
  • cataract-microcornea syndrome  (116150) 
  • congenital cerulean cataract, type 3; CCA3  (608983) 
    		•  NM_006891 search NEIBank  1421   131057   SNP
    59 2q33   603647  BCS1-like (yeast)  BCS1L 
  • Leigh syndrome  (256000) 
    		•  NM_004328 search NEIBank  617   471401   SNP
    60 2q33-qter   606530  cytochrome P450, family 27, subfamily A, polypeptide 1  CYP27A1 
  • cerebrotendinous xanthomatosis  (213700) 
    		•  NM_000784 search NEIBank  1593   516700   SNP
    61 2q31.3   608381  ceramide kinase-like  CERKL 
  • retinitis pigmentosa 26; RP26  (608380) 
    		•  NM_201548 search NEIBank  375298   145140   SNP
    62 2q31.1   603650  Bardet-Biedl syndrome 5  BBS5 
  • Bardet-Biedl syndrome; BBS6  (209900) 
    		•  NM_152384 search NEIBank  129880   233398   SNP
    63 2q31   120180  collagen, type III, alpha 1  COL3A1 
  • Ehlers-Danlos syndrome type IV  (130050) 
    		•  NM_000090 search NEIBank  1281   443625   SNP
    64 2q24-q31   600073  low density lipoprotein-related protein 2  LRP2 
  • Donnai-Barrow syndrome  (222448) 
    		•  NM_004525 search NEIBank  4036   470538   SNP
    65 2q24-q31   601756  UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)  GALNT3 
  • hyperphosphatemic familial tumoral calcinosis  (211900) 
    		•  NM_004482 search NEIBank  2591   170986   SNP
    66 2q21.3   602536  RAB3 GTPase activating protein subunit 1 (catalytic)  RAB3GAP1 
  • Warburg Micro syndrome; WARBM  (600118) 
    		•  NM_012233 search NEIBank  22930   306327   SNP
    67 2q21   133510  excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)  ERCC3 
  • trichotheodystrophy; TTD  (601675) 
    		•  NM_000122 search NEIBank  2071   469872   SNP
    68 2q14.1   604705  c-mer proto-oncogene tyrosine kinase  MERTK 
  • retinitis pigmentosa 38; RP38  (604705) 
    		•  NM_006343 search NEIBank  10461   306178   SNP
    69 2q13   607100  nephronophthisis 1 (juvenile)  NPHP1 
  • Joubert syndrome 1; JBTS1  (213300) 
  • Senior-Loken syndrome-1  (266900) 
    		•  NM_000272 search NEIBank  4867   280388   SNP
    70 2q11.2   600053  cyclic nucleotide gated channel alpha 3  CNGA3 
  • achromatopsia 2; ACHM2  (216900) 
    		•  NM_001298 search NEIBank  1261   234785   SNP
    71 2q11-q13   604095  ectodysplasin A receptor  EDAR 
  • autosomal recessive hypohidrotic ectodermal dysplasia  (224900) 
    		•  NM_022336 search NEIBank  10913   171971   SNP
    72 3p21.33   230500  galactosidase, beta 1  GLB1 
  • mucopolysaccharidosis type ivb  (253010) 
  • type III GM1-ganogliosidosis, generalized  (230650) 
    		•  NM_000404 search NEIBank  2720   443031   SNP
    73 3p21.3   601470  chemokine (C-X3-C motif) receptor 1  CX3CR1 
  • age-related macular degeneration 1; ARMD1  (603075) 
    		•  NM_001337 search NEIBank  1524   78913   SNP
    74 3p21.2-p21.1   601802  HESX homeobox 1  HESX1 
  • septooptic dysplasia  (182230) 
    		•  NM_003865 search NEIBank  8820   171980   SNP
    75 3p21.1-p12   607640  ataxin 7  ATXN7 
  • spinocerebellar ataxia-7; SCA7  (164500) 
    		•  NM_000333 search NEIBank  6314   476595   SNP
    76 3p21   139330  guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1  GNAT1 
  • autosomal dominant congenital stationary night blindness; CSNBAD3  (610444) 
    		•  NM_000172 search NEIBank  2779   517978   SNP
    77 3p21   150325  laminin, beta 2 (laminin S)  LAMB2 
  • Pierson syndrome  (609049) 
    		•  NM_002292 search NEIBank  3913   439726   SNP
    78 3p21   604780  abhydrolase domain containing 5  ABHD5 
  • triglyceride storage disease with impaired long-chain fatty acid oxidation  (275630) 
    		•  NM_016006 search NEIBank  51099   19385   SNP
    79 3p14.3   603381  filamin B, beta (actin binding protein 278)  FLNB 
  • Larsen syndrome, autosomal dominant; LRS1  (150250) 
  • atelosteogenesis type I; AOI  (108720) 
  • spondylocarpotarsal synostosis syndrome  (272460) 
    		•  NM_001457 search NEIBank  2317   476448   SNP
    80 3p14.2-p14.1   156845  G protein-coupled receptor 143   MITF 
  • Tietz syndrome  (103500) 
  • Waardenburg syndrome type II; WS2A  (193510) 
    		•  NM_000248 search NEIBank  4286   166017   SNP
    81 3q28-q29|3q28-q29   605290  optic atrophy 1 (autosomal dominant)  OPA1 
  • optic atrophy-1; OPA1  (165500) 
    		•  NM_015560 search NEIBank  4976   478708   SNP
    82 3q27.1   603945  eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa  EIF2B5 
  • leukoencephalopathy with vanishing white matter; VWM  (603896) 
    		•  NM_003907 search NEIBank  8893   283551   SNP
    83 3q27.1   608750  asparagine-linked glycosylation 3 homolog  ALG3 
  • congenital disorder of glycosylation type Id  (601110) 
    		•  NM_005787 search NEIBank  10195   478481   SNP
    84 3q26.3-q27   184429  SRY (sex determining region Y)-box 2  SOX2 
  • syndromic microphthalmia 3  (206900) 
    		•  NM_003106 search NEIBank  6657   518438   SNP
    85 3q25-qter   123730  crystallin, gamma S  CRYGS 
  • progressive polymorphic cortical cataract  (123730) 
    		•  NM_017541 search NEIBank  1427   376209   SNP
    86 3q25   606397  clarin 1  USH3A 
  • Usher syndrome type III; USH3  (276902) 
    		•  NM_174878 search NEIBank  7401   380222   SNP
    87 3q23-q25   117700  ceruloplasmin (ferroxidase)  CP 
  • aceruloplasminemia  (604290) 
    		•  NM_000096 search NEIBank  1356   282557   SNP
    88 3q22.1   608002  nephronophthisis 3 (adolescent)  NPHP3 
  • Senior-Loken syndrome 3; SLSN3  (606995) 
  • nephronophthisis 3; NPHP3  (604387) 
    		•  NM_153240 search NEIBank  27031   511991   SNP
    89 3q21   116955  CCHC-type zinc finger, nucleic acid binding protein  ZNF9 
  • myotonic dystrophy 2; DM2  (602668) 
    		•  NM_003418 search NEIBank  7555   518249   SNP
    90 3q21-q24   180380  rhodopsin  RHO 
  • retinitis pigmentosa 4; RP4  (180380) 
    		•  NM_000539 search NEIBank  6010   247565   SNP
    91 3q21-q25   603212  beaded filament structural protein 2, phakinin  BFSP2 
  • autosomal dominant cataract  (611597) 
  • juvenile-onset cataract  (603212) 
    		•  NM_003571 search NEIBank  8419   659862   SNP
    92 3q21-q23   607474  homogentisate 1,2-dioxygenase (homogentisate oxidase)  HGD 
  • alkaptonuria  (203500) 
    		•  NM_000187 search NEIBank  3081   368254   SNP
    93 3q13.33|3q21.1   609237  IQ motif containing B1  IQCB1 
  • Senior-Loken syndrome 5; SLSN5  (609254) 
    		•  NM_001023570 search NEIBank  9657   604110   SNP
    94 3q13   601199  calcium-sensing receptor  CASR 
  • hypoparathyroidism, familial isolated; FIH  (146200) 
    		•  NM_000388 search NEIBank  846   435615   SNP
    95 3q11.2   608845  ADP-ribosylation factor-like 6  ARL6 
  • Bardet-Biedl syndrome; BBS6  (209900) 
    		•  NM_032146 search NEIBank  84100   373801   SNP
    96 4p16.3   134934  fibroblast growth factor receptor 3  FGFR3 
  • lacrimoauriculodentodigital syndrome; LADD  (149730) 
    		•  NM_000142 search NEIBank  2261   1420   SNP
    97 4p16.3   180072  phosphodiesterase 6B, cGMP-specific, rod, beta   PDE6B 
  • congenital stationary night blindness' CSNB3  (163500) 
  • retinitis pigmentosa 40; RP40  (180072) 
    		•  NM_000283 search NEIBank  5158   59872   SNP
    98 4p16.3   252800  iduronidase, alpha-L-  IDUA 
  • Scheie syndrome  (607016) 
    		•  NM_000203 search NEIBank  3425   89560   SNP
    99 4p16.3   602104  SH3-domain binding protein 2  SH3BP2 
  • cherubism  (118400) 
    		•  NM_003023 search NEIBank  6452   167679   SNP
    100 4p16   606201  Wolfram syndrome 1 (wolframin)  WFS1 
  • Wolfram syndrome  (222300) 
    		•  NM_006005 search NEIBank  7466   518602   SNP
    101 4p15.32   604365  prominin 1  PROM1 
  • autosomal recessive retinal degeneration  (604365) 
  • retinitis pigmentosa 41; RP41  (604365) 
    		•  NM_006017 search NEIBank  8842   479220   SNP
    102 4p15   612013  COILED-COIL AND C2 DOMAINS-CONTAINING PROTEIN 2A; CC2D2A  CC2D2A 
  • mental retardation and retinitis pigmentosa  (612285) 
    		•  NM_001080522 search NEIBank  57545   590928   SNP
    103 4p12-cen   123825  cyclic nucleotide gated channel alpha 1  CNGA1 
  • retinitis pigmentosa, autosomal recessive  (123825) 
    		•  NM_000087 search NEIBank  1259   1323   SNP
    104 4q35.1-q35.2   608614  cytochrome P450, family 4, subfamily V, polypeptide 2  CYP4V2 
  • Bietti crystalline corneoretinal dystrophy  (210370) 
    		•  NM_207352 search NEIBank  285440   237642   SNP
    105 4q35   603029  toll-like receptor 3; TLR3  TLR3 
  • macular degeneration, age-related, 1; ARMD1  (603075) 
  • (PubMed Citation)
    		•
    		NM_003265 search NEIBank  7098   657724   SNP
    106 4q32.1   604863  lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)  LRAT 
  • early-onset severe retinal dystrophy  (604863) 
    		•  NM_004744 search NEIBank  9227   481028   SNP
    107 4q32-q33   208400  aspartylglucosaminidase  AGA 
  • aspartylglucosaminuria  (208400) 
    		•  NM_000027 search NEIBank  175   207776   SNP
    108 4q32-q35   231675  electron-transferring-flavoprotein dehydrogenase  ETFDH 
  • multiple acyl-CoA dehydrogenase deficiency; MADD  (231680) 
    		•  NM_004453 search NEIBank  2110   155729   SNP
    109 4q27   607590  Bardet-Biedl syndrome 7  BBS7 
  • Bardet-Biedl syndrome; BBS6  (209900) 
    		•  NM_018190 search NEIBank  55212   58974   SNP
    110 4q27   610683  Bardet-Biedl syndrome 12  BBS12 
  • Bardet-Biedl syndrome; BBS6  (209900) 
    		•  NM_152618 search NEIBank  166379   400698   SNP
    111 4q25-q27   601542  paired-like homeodomain 2  PITX2 
  • Rieger syndrome, type 1; RIEG1  (180500) 
  • iridogoniodysgenesis, type 2; IRID2  (137600) 
  • ring dermoid of the cornea; RDC  (180550) 
    		•  NM_000325 search NEIBank  5308   92282   SNP
    112 4q24   157147  microsomal triglyceride transfer protein  MTP 
  • abetalipoproteinemia  (200100) 
    		•  NM_000253 search NEIBank  4547   195799   SNP
    113 4q24   611507  CDGSH iron sulfur domain 2  CISD2 
  • Wolfram syndrome-2; WFS2  (604928) 
    		•  NM_001008388 search NEIBank  493856   556638   SNP
    114 4q21   603345  solute carrier family 4, sodium bicarbonate cotransporter, member 4  SLC4A4 
  • autosomal recessive proximal renal tubular acidosis with ocular abnormalities  (604278) 
    		•  NM_003759 search NEIBank  8671   5462   SNP
    115 4q11-q12   164920  v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog  KIT 
  • piebald trait  (172800) 
    		•  NM_000222 search NEIBank  3815   479754   SNP
    116 5p15   600857  succinate dehydrogenase complex, subunit A, flavoprotein (Fp)  SDHA 
  • Leigh syndrome  (256000) 
    		•  NM_004168 search NEIBank  6389   440475   SNP
    117 5p13.2   608667  Nipped-B homolog (Drosophila)  NIPBL 
  • Cornelia de Lange syndrome; CDLS  (122470) 
    		•  NM_133433 search NEIBank  25836   481927   SNP
    118 5p11-q13|5q11-q13   253200  arylsulfatase B  ARSB 
  • Maroteau-Lamy syndrome  (253200) 
    		•  NM_000046 search NEIBank  411   149103   SNP
    119 5qter   604539  ADAM metallopeptidase with thrombospondin type 1 motif, 2  ADAMTS2 
  • Ehlers-Danlos syndrome, type VII  (225410) 
    		•  NM_014244 search NEIBank  9509   120330   SNP
    120 5q35   604096  glutamate receptor, metabotropic 6  GRM6 
  • congenital stationary night blindness type 1B; CSNB1B  (257270) 
    		•  NM_000843 search NEIBank  2916   248131   SNP
    121 5q31.3-q33.1   272750  GM2 ganglioside activator  GM2A 
  • Tay-Sachs disease, AB variant  (272750) 
    		•  NM_000405 search NEIBank  2760   483873   SNP
    122 5q31.2-q34   180071  phosphodiesterase 6A, cGMP-specific, rod, alpha  PDE6A 
  • retinitis pigmentosa, autosomal recessive  (180071) 
    		•  NM_000440 search NEIBank  5145   151710   SNP
    123 5q31   601692  transforming growth factor, beta-induced, 68kDa  TGFBI 
  • Groenouw type I granular corneal dystrophy; CDGG1  (121900) 
  • corneal dystrophy, lattice type1; CDL1  (122200) 
    		•  NM_000358 search NEIBank  7045   369397   SNP
    124 5q31   608005  SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)  SIL1 
  • Marinesco-Sjogren syndrome; M22  (248800) 
    		•  NM_022464 search NEIBank  64374   483521   SNP
    125 5q23-q31   121050  fibrillin 2 (congenital contractural arachnodactyly)  FBN2 
  • contractural arachnodactyly, congenital  (121050) 
    		•  NM_001999 search NEIBank  2201   519294   SNP
    126 5q22.1   609669  WD repeat domain 36  WDR36 
  • primary open-angle glaucoma 1; GLC1G  (609887) 
    		•  NM_139281 search NEIBank  134430   533237   SNP
    127 5q21-q22   175100  adenomatous polyposis coli  APC 
  • adenomatous polyposis of the colon  (175100) 
    		•  NM_000038 search NEIBank  324   158932   SNP
    128 5q14.3   118661  versican  VCAN 
  • Wagner syndrome; WGN1  (143200) 
    		•  NM_004385 search NEIBank  1462   643801   SNP
    129 5q14.1   603401  adaptor-related protein complex 3, beta 1 subunit  AP3B1 
  • Hermansky-Pudlak syndrome; HPS  (203300) 
    		•  NM_003664 search NEIBank  8546   532091   SNP
    130 5q13.3   608464  angiogenic factor with G patch and FHA domains 1  VG5Q 
  • Klippel-Trenaunay-Weber syndrome  (149000) 
    		•  NM_018046 search NEIBank  55109   213393   SNP
    131 5q13   602851  G protein-coupled receptor 98  GPR98 
  • Usher syndrome, type IIC; USH2C  (605472) 
    		•  NM_032119 search NEIBank  84059   591777   SNP
    132 5q13   606873  hexosaminidase B (beta polypeptide)  HEXB 
  • Sandhoff disease  (268800) 
    		•  NM_000521 search NEIBank  3074   69293   SNP
    133 5q12.1   609412  excision repair cross-complementing rodent repair deficiency, complementation group 8  ERCC8 
  • Cockayne syndrome type A; CSA  (216400) 
    		•  NM_000082 search NEIBank  1161   435237   SNP
    134 5q11.1   602694  NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)  NDUFS4 
  • Leigh syndrome  (256000) 
    		•  NM_002495 search NEIBank  4724   528222   SNP
    135 6p25   601090  forkhead box C1  FOXC1 
  • iridogoniodysgenesis, type 1; IRID1  (601631) 
    		•  NM_001453 search NEIBank  2296   348883   SNP
    136 6p24   600429  glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)  GCNT2 
  • adult i blood group phenotype with congenital cataract  (600429) 
    		•  NM_001491 search NEIBank  2651   519884   SNP
    137 6p23   601556  ataxin 1  ATX1 
  • spinocerebellar ataxia-1; SCA1  (164400) 
    		•  NM_000332 search NEIBank  6310   434961   SNP
    138 6p23   603716  glial cells missing homolog 2 (Drosophila)  GCM2 
  • hypoparathyroidism, familial isolated; FIH  (146200) 
    		•  NM_004752 search NEIBank  9247   227098   SNP
    139 6p21.3   138470  complement factor B  CFB 
  • age-related macular degeneration 1; ARMD1  (603075) 
    		•  NM_001710 search NEIBank  629   69771   SNP
    140 6p21.3   142857  major histocompatibility complex, class II, DR beta 1  HLA-DRB1 
  • sarcoidosis  (181000) 
    		•  NM_002124 search NEIBank  3123   520049   SNP
    141 6p21.3   217000  complement component 2  C2 
  • age-related macular degeneration 1; ARMD1  (603075) 
    		•  NM_000063 search NEIBank  717   408903   SNP
    142 6p21.3   602280  tubby like protein 1  TULP1 
  • leber congenital amaurosis/early onset retinal degeneration  (PubMed Citation)
  • retinitis pigmentosa 14; RP14  (600132) 
    		•  NM_003322 search NEIBank  7287   485208   SNP
    143 6p21.3   608272  sialidase 1 (lysosomal sialidase)  NEU1 
  • neuraminidase deficiency  (256550) 
    		•  NM_000434 search NEIBank  4758   520037   SNP
    144 6p21.2-p12.3   179605  peripherin 2 (retinal degeneration, slow)  PRPH2 
  • fundus albipunctatus  (136880) 
  • patterned dystrophy of retinal pigment epithelium  (169150) 
    		•  NM_000322 search NEIBank  5961   1937   SNP
    145 6p21.1   600364  guanylate cyclase activator 1A (retina)  GUCA1A 
  • cone dystrophy 3; COD3  (602093) 
    		•  NM_000409 search NEIBank  2978   92858   SNP
    146 6p21.1   601498  peroxisomal biogenesis factor 6  PEX6 
  • Zellweger syndrome; ZS  (214100) 
    		•  NM_000287 search NEIBank  5190   107410   SNP
    147 6p21.1   602275  guanylate cyclase activator 1B (retina)  GUCA1B 
  • autosomal dominant retinal dystrophy  (602275) 
    		•  NM_002098 search NEIBank  2979   446529   SNP
    148 6q25.1   133430  estrogen receptor 1; ESR1  ESR1 
  • macular degeneration, age-related, 1; ARMD1  (603075) 
    		•  NM_000125 search NEIBank  2099   208124   SNP
    149 6q23.3   608894  Abelson helper integration site 1  AHI1 
  • Joubert syndrome 3; JBTS3  (608629) 
    		•  NM_017651 search NEIBank  54806   386684   SNP
    150 6q21-q23.2   121014  gap junction protein, alpha 1, 43kDa  GJA1 
  • oculodentodigital dysplasia; ODDD  (164200) 
    		•  NM_000165 search NEIBank  2697   74471   SNP
    151 6q21-q22.2   601757  peroxisomal biogenesis factor 7  PEX7 
  • Refsum disease  (266500) 
  • rhizomelic chondrodysplasia punctata type 1; RCDP1  (215100) 
    		•  NM_000288 search NEIBank  5191   280932   SNP
    152 6q21   605930  sorting nexin 3  SNX3 
  • microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism  (601349) 
    		•  NM_003795 search NEIBank  8724   12102   SNP
    153 6q21   607649  osteopetrosis associated transmembrane protein 1  OSTM1 
  • osteopetrsis, autosomal recessive  (259700) 
    		•  NM_014028 search NEIBank  28962   226780   SNP
    154 6q14.1   611408  Leber congenital amaurosis 5  LCA5 
  • Leber congenital amaurosis type V; LCA5  (604537) 
    		•  NM_181714 search NEIBank  167691   21945   SNP
    155 6q14   605512  elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4  ELOVL4 
  • Stargardt disease-3; STGD3  (600110) 
    		•  NM_022726 search NEIBank  6785   101915   SNP
    156 6q12-q14   120210  collagen, type IX, alpha 1  COL9A1 
  • Stickler syndrome, type I; STL1  (108300) 
    		•  NM_078485 search NEIBank  1297   590892   SNP
    157 6q12-q13   606629  regulating synaptic membrane exocytosis 1  RIMS1 
  • dominant cone-rod dystrophy  (606629) 
    		•  NM_014989 search NEIBank  22999   485729   SNP
    158 7p15.3   610531  family with sequence similarity 126, member A  FAM126A 
  • hypomyelination and congenital cataract  (610532) 
    		•  NM_032581 search NEIBank  84668   85603   SNP
    159 7p14.3   607331  retinitis pigmentosa 9  RP9 
  • retinitis pigmentosa 9; RP9  (180104) 
    		•  NM_203288 search NEIBank  6100   326805   SNP
    160 7p14   607968  Bardet-Biedl syndrome 9  BBS9 
  • Bardet-Biedl syndrome; BBS6  (209900) 
    		•  NM_001033604 search NEIBank  27241   372360   SNP
    161 7p13   165240  GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome)  GLI3 
  • Pallister-Hall syndrome; PHS  (146510) 
  • acrocallosal syndrome; ACLS  (200990) 
    		•  NM_000168 search NEIBank  2737   199338   SNP
    162 7q34   164757  v-raf murine sarcoma viral oncogene homolog B1  BRAF 
  • Iris melanoma  (PubMed Citation)
  • cardiofaciocutaneous syndrome  (115150) 
    		•  NM_004333 search NEIBank  673   550061   SNP
    163 7q31.3-q32   146690  IMP (inosine monophosphate) dehydrogenase 1  IMPDH1 
  • Leber Congenital Amaurosis; LCA11  
  • retinitis pigmentosa 10; RP10  (180105) 
    		•  NM_000883 search NEIBank  3614   317095   SNP
    164 7q31.3-q32   190900  opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan)  OPN1SW 
  • tritanopia  (190900) 
    		•  NM_001708 search NEIBank  611   102119   SNP
    165 7q31-q32   246900  dihydrolipoamide dehydrogenase  DLD 
  • Leigh syndrome  (256000) 
    		•  NM_000108 search NEIBank  1738   131711   SNP
    166 7q21.11   253220  glucuronidase, beta  GUSB 
  • mucopolysaccharidosis type VII  (253220) 
    		•  NM_000181 search NEIBank  2990   255230   SNP
    167 7q21.1   142409  hepatocyte growth factor   HGF 
  • High Myopia  (PubMed Citation)
    		•  NM_000601 search NEIBank  3082   396530   SNP
    168 7q21-q22   602136  peroxisome biogenesis factor 1  PEX1 
  • Refsum disease, infantile form  (266510) 
  • Zellweger syndrome; ZS  (214100) 
    		•  NM_000466 search NEIBank  5189   164682   SNP
    169 7q21-q22   604214  KRIT1, ankyrin repeat containing  CCM1 
  • cerebral cavernous malformations; CCM  (116860) 
    		•  NM_004912 search NEIBank  889   531987   SNP
    170 8p22-p21.3   228000  N-acylsphingosine amidohydrolase (acid ceramidase) 1  ASAH1 
  • Farber lipogranulomatosis  (228000) 
    		•  NM_004315 search NEIBank  427   527412   SNP
    171 8p22   238600  lipoprotein lipase  LPL 
  • type I hyperlipoproteinemia  (238600) 
    		•  NM_000237 search NEIBank  4023   180878   SNP
    172 8p21.1   609353  establishment of cohesion 1 homolog 2 (S. cerevisiae)  ESCO2 
  • Roberts syndrome; RBS  (268300) 
    		•  NM_001017420 search NEIBank  157570   99480   SNP
    173 8p12-p11.2   604611  Werner syndrome protein   RECQL2 
  • Werner syndrome; WRN  (277700) 
    		•  NM_000553 search NEIBank  7486   512715   SNP
    174 8q24.3   603780  RecQ protein-like 4  RECQL4 
  • Rothmund-Thomson syndrome; RTS  (268400) 
    		•  NM_004260 search NEIBank  9401   31442   SNP
    175 8q24   602643  tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin)  TNFRSF11B 
  • juvenile Paget disease  (239000) 
    		•  NM_002546 search NEIBank  4982   81791   SNP
    176 8q22.2   607817  vacuolar protein sorting 13 homolog B (yeast)  VPS13B 
  • Cohen syndrome; COH1  (216550) 
    		•  NM_152564 search NEIBank  157680   191540   SNP
    177 8q21.1   170993  peroxisomal membrane protein 3   PXMP3 
  • Refsum disease, infantile form  (266510) 
    		•  NM_000318 search NEIBank  5828   437966   SNP
    178 8q21-q22   605080  cyclic nucleotide gated channel beta 3   CNGB3 
  • Stargardt disease 1; STGD1  (248200) 
  • achromatopsia 3; ACHM3  (262300) 
    		•  NM_019098 search NEIBank  54714   154433   SNP
    179 8q13.3   601653  eyes absent 1 isoform a   EYA1 
  • branchiootorenal dysplasia  (113650) 
    		•  NM_172060 search NEIBank  2138   491997   SNP
    180 8q13.1-q13.3   600415  tocopherol transfer protein, alpha  TTPA 
  • ataxia and retinitis pigmentosa with isolated vitamin E deficiency  (600415) 
    		•  NM_000370 search NEIBank  7274   69049   SNP
    181 8q12.2   608892  chromodomain helicase DNA binding protein 7   CHD7 
  • CHARGE syndrome  (214800) 
    		•  NM_017780 search NEIBank  55636   20395   SNP
    182 8q11-q13   603937  retinitis pigmentosa 1 gene   RP1 
  • retinitis pigmentosa; RP1  (180100) 
    		•  NM_006269 search NEIBank  6101   251687   SNP
    183 9p24.2   607604  potassium channel, subfamily V, member 2  KCNV2 
  • retinal cone dystrophy 3B; RCD3B  (610356) 
    		•  NM_133497 search NEIBank  169522   624689   SNP
    184 9p24.2   610192  GLIS family zinc finger 3  GLIS3 
  • diabetes mellitus, neonatal, with congenital hypothyroidism  (610199) 
    		•  NM_152629 search NEIBank  169792   162125   SNP
    185 9p24   192977  very low density lipoprotein receptor  VLDLR 
  • cerebellar hypoplasia, VLDLR-associated; VLDLRCH  (224050) 
    		•  NM_003383 search NEIBank  7436   370422   SNP
    186 9p21   609507  topoisomerase I binding, arginine/serine-rich  TOPORS 
  • retinitis pigmentosa 31; RP31  (609923) 
    		•  NM_005802 search NEIBank  10210   589962   SNP
    187 9p13   606999  galactose-1-phosphate uridylyltransferase   GALT 
  • galactosemia  (230400) 
    		•  NM_000155 search NEIBank  2592   522090   SNP
    188 9q34.2-q34.3   120215  alpha 1 type V collagen preproprotein   COL8A1 
  • Ehlers-Danlos syndrome, type I  (130000) 
    		•  NM_000093 search NEIBank  1289   210283   SNP
    189 9q34.2   185620  surfeit-1 gene   SURF1 
  • Leigh syndrome  (256000) 
    		•  NM_003172 search NEIBank  6834   512464   SNP
    190 9q34.1   607423  protein-O-mannosyltransferase 1   POMT1 
  • Walker-Warburg syndrome  (236670) 
    		•  NM_007171 search NEIBank  10585   522449   SNP
    191 9q34   602575  LIM homeobox transcription factor 1, beta   LMX1B 
  • nail-patella syndrome; NPS  (161200) 
    		•  NM_002316 search NEIBank  4010   133709   SNP
    192 9q33.1   602290  tripartite motif-containing 32  TRIM32 
  • Bardet-Biedl syndrome; BBS6  (209900) 
    		•  NM_001099679 search NEIBank  22954   591910   SNP
    193 9q33-q34.1   131195  endoglin precursor   ENG 
  • hereditary hemorrhagic telangiectasia of Rendu, Osler, and Weber  (187300) 
    		•  NM_000118 search NEIBank  2022   76753   SNP
    194 9q33   137350  gelsolin  GSN 
  • corneal dystrophy, lattice type1; CDL1  (122200) 
    		•  NM_000177 search NEIBank  2934   522373   SNP
    195 9q32-q33.3   176805  prostaglandin-endoperoxide synthase 1  PTGS1 
  • retinal bleeding  (176805) 
    		•  NM_000962 search NEIBank  5742   201978   SNP
    196 9q32-q33   603030  toll-like receptor 4  TLR4 
  • macular degeneration, age-related, 10; ARMD10  (611488) 
    		•  NM_138554 search NEIBank  7099   174312   SNP
    197 9q32-q34   607928  deafness, autosomal recessive 31  DFNB31 
  • Usher Syndrome type IID; USH2D  (611383) 
    		•  NM_015404 search NEIBank  25861   93836   SNP
    198 9q31   243305  inversin  INVS 
  • nephronophthisis 2; NPHP2  (602088) 
    		•  NM_183245 search NEIBank  27130   558477   SNP
    199 9q31-q33   607440  fukutin   FCMD 
  • Fukuyama congenital muscular dystrophy; FCMD  (253800) 
    		•  NM_006731 search NEIBank  2218   55777   SNP
    200 9q22.33   607905  asparagine-linked glycosylation 2 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase)  ALG2 
  • congenital disorder of glycosylation type Ii; CDG1I  (607906) 
    		•  NM_033087 search NEIBank  85365   40919   SNP
    201 9q21-q22   123620  crystallin, beta-B2   CRYBB2 
  • cataract, contenital, cerulean type 2  (601547) 
  • cataract, sutural, with punctate and cerulean opacities  (607133) 
    		•  NM_000496 search NEIBank  1514   373074   SNP
    202 10pter-p11.2   602026  phytanoyl-CoA 2-hydroxylase  PHYH 
  • Refsum disease  (266500) 
    		•  NM_006214 search NEIBank  5264   498732   SNP
    203 10p13   602432  optineurin  OPTN 
  • primary open angle glaucoma, adult onset; POAG  (137760) 
    		•  NM_001008211 search NEIBank  10133   332706   SNP
    204 10p11.2   189909  zinc finger E-box binding homeobox 1  ZEB1 
  • corneal dystrophy, posterior polymorphous 3, PPCD3  (609141) 
    		•  NM_030751 search NEIBank  6935   124503   SNP
    205 10p11.2-q21   605514  protocadherin 15 precursor   PCDH15 
  • Usher syndrome type If; USH1F  (602083) 
    		•  NM_033056 search NEIBank  65217   232819   SNP
    206 10q26.3   602194  HtrA serine peptidase 1  HTRA1 
  • age-related macular degeneration 7; ARMD7  (610149) 
    		•  NM_002775 search NEIBank  5654   501280   SNP
    207 10q26.13   607772  pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1  PLEKHA1 
  • age-related macular degeneration 1; ARMD1  (603075) 
    		•  NM_001001974 search NEIBank  59338   643512   SNP
    208 10q26.13   611313  LOC387715 (age-related maculopathy susceptibility 2)  ARMS2 
  • age-related macular degeneration 8  (611313) 
    		•  NM_001099667 search NEIBank  387715   120359   SNP
    209 10q26   176943  fibroblast growth factor receptor 2 isoform 1   FGFR2 
  • Apert syndrome  (101200) 
  • Crouzon syndrome  (123500) 
  • cutis gyrata syndrome of Beare and Stevenson  (123790) 
  • lacrimoauriculodentodigital syndrome; LADD  (149730) 
    		•  NM_000141 search NEIBank  2263   533683   SNP
    210 10q26   258870  ornithine aminotransferase (gyrate atrophy)   OAT 
  • ornithine aminotransferase deficiency with gyrate atrophyof the choroid and retina; HOGA  (258870) 
    		•  NM_000274 search NEIBank  4942   523332   SNP
    211 10q25   602669  paired-like homeodomain transcription factor 3   PITX3 
  • anterior segment mesenchymal dysgenesis; ASMD  (107250) 
  • cataract, poserior polar 4; CTPP4  (610623) 
    		•  NM_005029 search NEIBank  5309   137568   SNP
    212 10q24   167409  paired box 2  PAX2 
  • papillorenal syndrome  (120330) 
    		•  NM_003987 search NEIBank  5076   155644   SNP
    213 10q24   603646  COX15 homolog, cytochrome c oxidase assembly protein (yeast)  COX15 
  • Leigh syndrome  (256000) 
    		•  NM_004376 search NEIBank  1355   28326   SNP
    214 10q23.3   601728  phosphatase and tensin homolog   PTEN 
  • Cowden disease; CD  (158350) 
  • Proteus syndrome  (176920) 
  • macrocephaly, multiple lipomas, and hemangiomata  (153480) 
    		•  NM_000314 search NEIBank  5728   500466   SNP
    215 10q23.3-24.3   606075  progressive external ophthalmoplegia 1   C10ORF2 
  • progressive external opthalmoplegia with mitochondrial DNA deletions; PEO  (157640) 
    		•  NM_021830 search NEIBank  56652   22678   SNP
    216 10q23-q24   180250  retinol-binding protein 4  RBP4 
  • retinol-binding protein deficiency  (180250) 
    		•  NM_006744 search NEIBank  5950   50223   SNP
    217 10q23   600342  retinal G protein coupled receptor  RGR 
  • retinitis pigmentosa, autosomal dominant  (600342) 
    		•  NM_002921 search NEIBank  5995   1544   SNP
    218 10q23   611910  solute carrier family 16, member 12 (monocarboxylic acid transporter 12)  SLC16A12 
  • cataract, juvenile, with microcornea and glucosuria  (612018) 
    		•  NM_213606 search NEIBank  387700   530338   SNP
    219 10q22.3   601299  bone morphogenetic protein receptor, type IA  BMPR1A 
  • Cowden disease; CD  (158350) 
    		•  NM_004329 search NEIBank  657   524477   SNP
    220 10q21-q22   605516  cadherin related 23 isoform 1 precursor   CDH23 
  • Usher syndrome type ID; USH1D;  (601067) 
    		•  NM_022124 search NEIBank  64072   310897   SNP
    221 10q11.23   133540  excision repair cross-complementing rodent   ERCC6 
  • excision-repair cross-complementing, group 6; ERCC6  (609413) 
  • macular degeneration, age-related, 5, included; ARMD5  (133540) 
    		•  NM_000124 search NEIBank  2074   133444   SNP
    222 11p15.4-p15.1   607608  sphingomyelin phosphodiesterase 1, acid lysosomal  SMPD1 
  • Niemann-Pick disease, type A  (257200) 
  • Niemann-Pick disease, type B  (607616) 
    		•  NM_000543 search NEIBank  6609   498173   SNP
    223 11p15.4   607697  SET binding factor 2  SBF2 
  • Charcot-Marie-Tooth disease, type 4B2 with early-onset glaucoma; CMT4B2  (604563) 
    		•  NM_030962 search NEIBank  81846   438794   SNP
    224 11p15.3-p15.1   168450  parathyroid hormone  PTH 
  • hypoparathyroidism, familial isolated; FIH  (146200) 
    		•  NM_000315 search NEIBank  5741   37045   SNP
    225 11p15.2   189967  TEA domain family member 1  TEAD1 
  • Sveinsson chorioretinal atrophy; SCRA  (108985) 
    		•  NM_021961 search NEIBank  7003   655331   SNP
    226 11p15.1-p14   605242  harmonin   USH1C 
  • Usher syndrome, type IC; USH1C  (276904) 
    		•  NM_005709 search NEIBank  10083   502072   SNP
    227 11p15   607998  tripeptidyl-peptidase I precursor   CLN2 
  • ceroid lipofuscinosis, neuronal 2, late infantile; CLN2  (204500) 
    		•  NM_000391 search NEIBank  1200   523454   SNP
    228 11p13   607108  paired box 6  PAX6 
  • aniridia type II; AN2  (106210) 
  • coloboma of optic nerve  (120430) 
  • ectopia pupillae  (129750) 
  • foveal hypoplasia and presenile cataract syndrome  (136520) 
  • keratitis, hereditary  (148190) 
  • opic nerve hypoplasia, bilateral  (165550) 
    		•  NM_000280 search NEIBank  5080   502235   SNP
    229 11p13   608769  pyruvate dehydrogenase complex, component X  PDX1 
  • pyruvate dehydrogenase E3-binding protein deficiency  (245349) 
    		•  NM_003477 search NEIBank  8050   502315   SNP
    230 11p11.11   603846  NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)  NDUFS3 
  • Leigh syndrome  (256000) 
    		•  NM_004551 search NEIBank  4722   502528   SNP
    231 11q23.3   608752  C1q and tumor necrosis factor related protein 5  C1QTNF5 
  • late-onset retinal degeneration; LORD  (605670) 
    		•  NM_015645 search NEIBank  114902   157211   SNP
    232 11q23-q24   107680  apolipoprotein A-1  APOA1 
  • Detroit type corneal clouding  (107680) 
    		•  NM_000039 search NEIBank  335   93194   SNP
    233 11q23   606227  membrane-type frizzled-related protein  MFRP 
  • microphthalmia, posterior, with retinitis pigmentosa, foveoschisis and optic disc drusen  (611040) 
  • nanophthalmos 2; NNO2  (609549) 
    		•  NM_031433 search NEIBank  83552   512769   SNP
    234 11q22.3-q23.1   123590  crystallin, alpha B   CRYAB 
  • alpha-b crystallinopathy  (608810) 
  • posterior polar cataract 2; CTPP2  (123590) 
    		•  NM_001885 search NEIBank  1410   408767   SNP
    235 11q14.2   604579  frizzled 4  FZD4 
  • exudative vitreoretinopathy, familial, autosomal dominant; EVR  (133780) 
    		•  NM_012193 search NEIBank  8322   19545   SNP
    236 11q14-q21   606933  tyrosinase (oculocutaneous albinism IA)   TYR 
  • oculocutaneous albinism, typeI; OCA1  (203100) 
    		•  NM_000372 search NEIBank  7299   503555   SNP
    237 11q13.5   276903  myosin VIIA  MYO7A 
  • Usher synddrome, type IB  (276900) 
    		•  NM_000260 search NEIBank  4647   370421   SNP
    238 11q13.4   603506  low density lipoprotein receptor-related protein 5  LRP6 
  • exudative vitreoretinopathy, familial, autosomal recessive  (601813) 
  • osteoporosis-pseudoglioma syndrome; OPPG  (259770) 
    		•  NM_002335 search NEIBank  4041   6347   SNP
    239 11q13.2-q13.5   602858  7-dehydrocholesterol reductase   DHCR7 
  • Smith-Lemli-Opitz syndrome; SLOS  (270400) 
    		•  NM_001360 search NEIBank  1717   503134   SNP
    240 11q13.2   604592  T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3  TCIRG1 
  • osteopetrsis, autosomal recessive  (259700) 
    		•  NM_006019 search NEIBank  10312   495985   SNP
    241 11q13.1   209901  Bardet-Biedl syndrome 1  BBS1 
  • Bardet-Biedl syndrome; BBS6  (209900) 
    		•  NM_024649 search NEIBank  582   502915   SNP
    242 11q13.1   608965  calcium binding protein 4  CABP4 
  • night blindness, congenital stationary, type 2B; CSNB2B  (610427) 
    		•  NM_145200 search NEIBank  57010   143036   SNP
    243 11q13   161015  NADH dehydrogenase (ubiquinone) flavoprotein 1  NDUFV1 
  • Leigh syndrome  (256000) 
    		•  NM_007103 search NEIBank  4723   7744   SNP
    244 11q13   180721  retinal outer segment membrane protein 1  ROM1 
  • retinitis pigmentosa 7; RP7  (608133) 
    		•  NM_000327 search NEIBank  6094   281564   SNP
    245 11q13   602141  NADH dehydrogenase (ubiquinone) Fe-S protein 8  NDUFS8 
  • Leigh syndrome  (256000) 
    		•  NM_002496 search NEIBank  4728   90443   SNP
    246 11q13   607854  bestrophin  VMD2 
  • macular dystrophy, concentric annular  (153870) 
  • macular dystrophy, vitelliform; VMD  (153700) 
    		•  NM_004183 search NEIBank  7439   132319   SNP
    247 12p13.33   608171  calcium channel, voltage-dependent, alpha 2/delta subunit 4  CACNA2D4 
  • retinal cone dystrophy 4; RCD4  (610478) 
    		•  NM_172364 search NEIBank  93589   13768   SNP
    248 12p13.3   600414  peroxisomal biogenesis factor 5  PXR1 
  • Zellweger syndrome; ZS  (214100) 
    		•  NM_000319 search NEIBank  5830   342386   SNP
    249 12q24.31   606686  eukaryotic translation initiation factor 2B  EIF2B1 
  • leukoencephalopathy with vanishing white matter; VWM  (603896) 
    		•  NM_001414 search NEIBank  1967   78592   SNP
    250 12q24   251170  mevalonate kinase   MVK 
  • melvalonic aciduria  (610377) 
    		•  NM_000431 search NEIBank  4598   130607   SNP
    251 12q23.2   607840  N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits  GNPTAB 
  • mucolipidosis IIIA  (252600) 
    		•  NM_024312 search NEIBank  79158   46850   SNP
    252 12q22-q24.2   261600  phenylalanine hydroxylase   PKU 
  • phenylketonuria  (261600) 
    		•  NM_000277 search NEIBank  5053   325404   SNP
    253 12q22   603288  keratocan   KERA 
  • cornea plana 2; CNA2  (217300) 
    		•  NM_007035 search NEIBank  11081   125750   SNP
    254 12q21.33   125255  decorin  DCN 
  • corneal dystrophy, congenital stromal; CSCD  (610048) 
    		•  NM_133507 search NEIBank  1634   156316   SNP
    255 12q21.33   610142  centrosomal protein, 290kDa  CEP290 
  • Leber congenital amaurosis, type I; LCA1  (204000) 
    		•  NM_025114 search NEIBank  80184   150444   SNP
    256 12q21.3   600616  lumican  LUM 
  • High Myopia  (PubMed Citation)
    		•  NM_002345 search NEIBank  4060   406475   SNP
    257 12q21.2   610148  Bardet-Biedl syndrome 10  BBS10 
  • Bardet-Biedl syndrome; BBS6  (209900) 
    		•  NM_024685 search NEIBank  79738   96322   SNP
    258 12q13.11-q13.2   120140  alpha 1 type II collagen isoform 1   COL2A1 
  • Kniest dysplasia  (156550) 
  • Stickler syndrome, type I; STL1  (108300) 
  • epiphyseal dysplasia, multiple, with myopia and conductive deafness  (132450) 
  • spondyloepimetaphyseal dysplasia, Strudwick type  (184250) 
  • spondyloepiphyseal dysplasia congenita; SEDC  (183900) 
    		•  NM_001844 search NEIBank  1280   408182   SNP
    259 12q13   154050  major intrinsic protein of lens fiber  MIP 
  • autosomal dominant cataract  (604219) 
    		•  NM_012064 search NEIBank  4284   534329   SNP
    260 12q13   190151  v-erb-b2 erythroblastic leukemia viral oncogene homolog 3  ERBB3 
  • lethal congenital contracture syndrome 2; LCCS2  (607598) 
    		•  NM_001982 search NEIBank  2065   118681   SNP
    261 12q13-q14   601617  retinol dehydrogenase 5   RDH5 
  • fundus albipunctatus  (136880) 
    		•  NM_002905 search NEIBank  5959   172914   SNP
    262 12q13   605378  achalasia, adrenocortical insufficiency  AAAS 
  • achlalasia-addisonianism-alacrima syndrome; AAA  (231550) 
    		•  NM_015665 search NEIBank  8086   369144   SNP
    263 12q12-q13   148043  keratin 3   KRT3 
  • juvenile epithelial corneal dystrophy of Meesmann  (122100) 
    		•  NM_057088 search NEIBank  3850   410397   SNP
    264 12q11-q14   601284  activin A receptor type II-like 1   ACVRL1 
  • Osler-Rendu-Weber syndrome 2; ORW2  (600376) 
    		•  NM_000020 search NEIBank  94   410104   SNP
    265 13q34   120130  collagen, type IV, alpha-1  COL4A1 
  • porencephaly, familial  (175780) 
    		•  NM_001845 search NEIBank  1282   17441   SNP
    266 13q34   180381  rhodopsin kinase  RHOK 
  • Oguchi disease  (258100) 
    		•  NM_002929 search NEIBank  6011   103501   SNP
    267 13q22   131244  endothelin receptor type B isoform 1  EDNRB 
  • ABCD syndrome  (600501) 
  • Waardenburg-Shah syndrome  (277580) 
    		•  NM_000115 search NEIBank  1910   82002   SNP
    268 13q21.1-q32   608102  ceroid-lipofuscinosis, neuronal 5   CLN5 
  • ceroid lipofuscinosis, neuronal 5; CLN5  (256731) 
    		•  NM_006493 search NEIBank  1203   30213   SNP
    269 13q14.3   603904  integral membrane protein 2B   ITM2B 
  • dementia, familial Danish; FDD  (117300) 
    		•  NM_021999 search NEIBank  9445   446450   SNP
    270 13q14.3   606882  ATPase, Cu++ transporting, beta polypeptide   ATP7B 
  • Wilson disease  (277900) 
    		•  NM_000053 search NEIBank  540   492280   SNP
    271 13q14   603861  solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15  SLC25A15 
  • hyperornithinemia hyperammonemia homocitrullinuria syndrome  (238970) 
    		•  NM_014252 search NEIBank  10166   442781   SNP
    272 13q12.3   610308  beta 1,3-galactosyltransferase-like  B3GALTL 
  • Peters-plus syndrome  (261540) 
    		•  NM_194318 search NEIBank  145173   13205   SNP
    273 13q11-q12   121011  gap junction protein, beta 2, 26kDa  GJB2 
  • keratitis-ichthyosis-deafness syndrome, autosomal dominant  (148210) 
    		•  NM_004004 search NEIBank  2706   524894   SNP
    274 13q11-q12   121015  gap junction protein, alpha 3  GJA3 
  • cataract, zonular pulverulent 3  (601885) 
    		•  NM_021954 search NEIBank  2700   533967   SNP
    275 13q11-q12.1|13q12   604418  gap junction protein, beta 6  GJB6 
  • ectodermal dysplasia 2, hidrotic; ED2  (129500) 
    		•  NM_006783 search NEIBank  10804   511757   SNP
    276 14q32.1   604580  fibulin 5  FBLN5 
  • age-related macular degeneration 3; ARMD3  (608895) 
    		•  NM_006329 search NEIBank  10516   332708   SNP
    277 14q31.3   608132  tetratricopeptide repeat domain 8  TTC8 
  • Bardet-Biedl syndrome; BBS6  (209900) 
    		•  NM_144596 search NEIBank  123016   303055   SNP
    278 14q31   606890  galactosylceramidase precursor   GALC 
  • Krabbe disease  (245200) 
    		•  NM_000153 search NEIBank  2581   513439   SNP
    279 14q24.3   142993  visual system homeobox 2  CHX10 
  • microphthalmos, autosomal recessive  (251600) 
    		•  NM_182894 search NEIBank  338917   449771   SNP
    280 14q24.3   606454  eukaryotic translation initiation factor 2B  EIF2B2 
  • leukoencephalopathy with vanishing white matter; VWM  (603896) 
    		•  NM_014239 search NEIBank  8892   409137   SNP
    281 14q24.1   608830  retinol dehydrogenase 12  RDH12 
  • Leber congenital amaurosis, type III; LCA3  (604232) 
    		•  NM_152443 search NEIBank  145226   415322   SNP
    282 14q24   607439  protein-O-mannosyltransferase 2  POMT2 
  • Walker-Warburg syndrome  (236670) 
    		•  NM_013382 search NEIBank  29954   132989   SNP
    283 14q22.3-q23   606326  SIX homeobox 6  SIX6 
  • microphthalmia, isolated, with cataract 2; MCOPCT2  (212550) 
    		•  NM_007374 search NEIBank  4990   194756   SNP
    284 14q21-q22   600037  orthodenticle homeobox 2  OTX2 
  • microphthalmia, syndromic 5; MCOPS5  (610125) 
    		•  NM_172337 search NEIBank  5015   288655   SNP
    285 14q12-q13   603196  cochlin  COCH 
  • Vertical corneal striae  (PubMed Citation)
    		•  NM_004086 search NEIBank  1690   21016   SNP
    286 14q11.1-q11.2   162080  neural retina leucine zipper  NRL 
  • retintis pigmentosa 27; RP27  (162080) 
    		•  NM_006177 search NEIBank  4901   89606   SNP
    287 14q11   605446  retinitis pigmentosa GTPase regulator interacting protein 1  RPGRIP1 
  • Leber congenital amaurosis, type I; LCA1  (204000) 
    		•  NM_020366 search NEIBank  57096   126035   SNP
    288 15q26   180090  retinaldehyde binding protein 1  RLBP1 
  • Bothnia retinal dystrophy  (607475) 
    		•  NM_000326 search NEIBank  6017   1933   SNP
    289 15q25   174763  polymerase (DNA directed), gamma  POLG 
  • progressive external opthalmoplegia with mitochondrial DNA deletions; PEO  (157640) 
    		•  NM_002693 search NEIBank  5428   655852   SNP
    290 15q24.1   610745  stimulated by retinoic acid gene 6 homolog (mouse)  STRA6 
  • syndromic microphthalmia 9; MCOPS9  (601186) 
    		•  NM_022369 search NEIBank  64220   24553   SNP
    291 15q24-q25   153456  lysyl oxidase-like 1  LOXL1 
  • EXFOLIATION SYNDROME; XFS  (177650) 
    		•  NM_005576 search NEIBank  4016   65436   SNP
    292 15q23   606725  ceroid-lipofuscinosis, neuronal 6  CLN6 
  • ceroid lipofuscinosis, neuronal, late infantile, variant  (601780) 
    		•  NM_017882 search NEIBank  54982   512983   SNP
    293 15q23-q25   608053  electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II)  ETFA 
  • multiple acyl-CoA dehydrogenase deficiency; MADD  (231680) 
    		•  NM_000126 search NEIBank  2108   39925   SNP
    294 15q22.32   604485  photoreceptor-specific nuclear receptor isoform   NR2E3 
  • enhanced S-cone syndrome; ESCS  (268100) 
  • retinitis pigmentosa 37; RP37  (611131) 
    		•  NM_014249 search NEIBank  10002   187354   SNP
    295 15q22.3-q23   600374  Bardet-Biedl syndrome 4  BBS4 
  • Bardet-Biedl syndrome; BBS6  (209900) 
    		•  NM_033028 search NEIBank  585   208681   SNP
    296 15q22.1   176872  mitogen-activated protein kinase kinase 1  MAP2K1 
  • cardiofaciocutaneous syndrome  (115150) 
    		•  NM_002755 search NEIBank  5604   145442   SNP
    297 15q21.1   134797  fibrillin 1   FBN1 
  • Marfan syndrome; MFS  (154700) 
  • Shprintzen-Goldberg craniosynostosis syndrome  (182212) 
  • Weill-Marchesani syndrome, autosomal dominant  (608328) 
  • ectopia lentis, isolated  (129600) 
    		•  NM_000138 search NEIBank  2200   146447   SNP
    298 15q15   602860  BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)  BUB1B 
  • mosaic variegated aneuploidy syndrome; MVA  (257300) 
    		•  NM_001211 search NEIBank  701   631699   SNP
    299 15q13-q15   604878  solute carrier family 12 (potassium/chloride transporters), member 6  SLC12A6 
  • agenesis of corpus callosum with neuronopathy  (218000) 
    		•  NM_005135 search NEIBank  9990   4876   SNP
    300 15q11.2-q12   137192  gamma-aminobutyric acid (GABA) A receptor, beta 3  GABRB3 
  • primary open angle glaucoma, adult onset; POAG  (137760) 
    		•  NM_000814 search NEIBank  2562   302352   SNP
    301 16p13.3   600140  CREB binding protein   CREBBP 
  • Rubinstein-Taybi syndrome; RSTS  (180849) 
    		•  NM_004380 search NEIBank  1387   459759   SNP
    302 16p13.3-p13.2   601785  phosphomannomutase 2  PMM2 
  • congenital disorder of glycosylation, type Ia  (212065) 
    		•  NM_000303 search NEIBank  5373   459855   SNP
    303 16p13.2   611579  LOC283953  TMEM114 
  • Congenital lamellar cataract  (PubMed Citation)
    		•  XM_208930.4 search NEIBank  283953   150849   SNP
    304 16p13.1   603234  ATP-binding cassette, sub-family C, member 6   ABCC6 
  • pseudoxanthoma elasticum, autosomal dominant; PXE  (177850) 
  • pseudoxanthoma elasticum, autosomal recessive; PXE  (264800) 
    		•  NM_001171 search NEIBank  368   442182   SNP
    305 16p13   602727  chloride channel 7   CLCN7 
  • osteopetrsis, autosomal recessive  (259700) 
    		•  NM_001287 search NEIBank  1186   459649   SNP
    306 16p12.1   607042  ceroid-lipofuscinosis, neuronal 3, juvenile  CLN3 
  • neuronal ceroid lipofuscinosis-3; CLN3  (204200) 
    		•  NM_000086 search NEIBank  1201   446747   SNP
    307 16q24.3   253000  galactosamine (N-acetyl)-6-sulfate sulfatase  GALNS 
  • mucopolysaccharidosis type IVA  (253000) 
    		•  NM_000512 search NEIBank  2588   271383   SNP
    308 16q24.3   602783  paraplegin isoform 1   SPG7 
  • spastic paraplegia 7, autosomal recessive; SPG7  (607259) 
    		•  NM_003119 search NEIBank  6687   185597   SNP
    309 16q22.1   114021  cadherin 3, type 1 preproprotein   CDH3 
  • hypotrichosis, congenital with juvenile macular dystrophy; HJMD  (601553) 
    		•  NM_001793 search NEIBank  1001   191842   SNP
    310 16q22.1   276600  tyrosine aminotransferase  TAT 
  • tyrosine transaminase deficiency  (276600) 
    		•  NM_000353 search NEIBank  6898   161640   SNP
    311 16q22.1   606967  lecithin-cholesterol acyltransferase  LCAT 
  • fish-eye disease; FED  (136120) 
  • lecithin:cholesterol acyltransferase deficiency  (245900) 
    		•  NM_000229 search NEIBank  3931   387239   SNP
    312 16q22   218030  hydroxysteroid (11-beta) dehydrogenase 2  HSD11B2 
  • hypertensive retinopathy  (218030) 
    		•  NM_000196 search NEIBank  3291   1376   SNP
    313 16q22   605294  carbohydrate (N-acetylglucosamine 6-O)   CHST6 
  • corneal macular dystrophy 1; MCDC1  (217800) 
    		•  NM_021615 search NEIBank  4166   157439   SNP
    314 16q21   602438  heat shock transcription factor 4   HSF4 
  • lamellar cataract  (116800) 
    		•  NM_001538 search NEIBank  3299   512156   SNP
    315 16q21   606151  Bardet-Biedl syndrome 2  BBS2 
  • Bardet-Biedl syndrome; BBS6  (209900) 
    		•  NM_031885 search NEIBank  583   333738   SNP
    316 16q13   600724  cyclic nucleotide gated channel beta 1  CNGB1 
  • retinitis pigmentosa, autosomal recessive  (600724) 
    		•  NM_001297 search NEIBank  1258   147062   SNP
    317 17pter-p12   606672  glycoprotein Ib (platelet), alpha polypeptide  GP1BA 
  • nonarteritic anterior ischemic optic neuropathy, susceptibility  (258660) 
    		•  NM_000173 search NEIBank  2811   1472   SNP
    318 17pter-p13   608034  aspartoacylase   ASPA 
  • Canavan disease  (271900) 
    		•  NM_000049 search NEIBank  443   171142   SNP
    319 17p13.3   601545  platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa  PAFAH1B1 
  • Miller-Dieker lissencephaly syndrome; MDLS  (247200) 
    		•  NM_000430 search NEIBank  5048   77318   SNP
    320 17p13.3   607300  PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)  PRPF8 
  • retinitis pigmentosa 13; RP13  (600059) 
    		•  NM_006445 search NEIBank  10594   181368   SNP
    321 17p13.1   172860  serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1  PEDF 
  • Diabetic retinopathy  (PubMed Citation)
    		•  NM_002615 search NEIBank  5176   694727   SNP
    322 17p13.1   179618  recoverin  RCV1 
  • cancer-associated retinopathy  (179618) 
    		•  NM_002903 search NEIBank  5957   80539   SNP
    323 17p13.1   600179  guanylate cyclase 2D, membrane   GUCY2D 
  • Leber congenital amaurosis, type I; LCA1  (204000) 
  • cone-rod dystrophy 6; CORD6  (601777) 
    		•  NM_000180 search NEIBank  3000   309958   SNP
    324 17p13.1   604392  aryl hydrocarbon receptor interacting protein-like 1  AIPL1 
  • Leber congenital amaurosis, type IV; LCA4  (604393) 
    		•  NM_014336 search NEIBank  23746   279887   SNP
    325 17p13   606272  cystinosis, nephropathic  CTNS 
  • adult nonnephropathic cystinosis  (219750) 
  • late-onset juvenile or adolescent nephropathic type cystinosis  (219900) 
  • nephropathic cystinosis; CTNS  (219800) 
    		•  NM_004937 search NEIBank  1497   187667   SNP
    326 17p13   608921  PITPNM family member 3  PITPNM3 
  • cone-rod dystrophy 5; CORD5  (600977) 
    		•  NM_031220 search NEIBank  83394   183983   SNP
    327 17p11.2   270200  aldehyde dehydrogenase 3 family, member A2  ALDH3A2 
  • Sjogren-Larsson syndrome  (270200) 
    		•  NM_000382 search NEIBank  224   499886   SNP
    328 17q25.1   607696  Usher syndrome 1G (autosomal recessive)  USH1G 
  • Usher syndrome, type IG; USH1G  (606943) 
    		•  NM_173477 search NEIBank  124590   376688   SNP
    329 17q25.1   610598  PRCD, DOG, homolog of; PRCD  PRCD 
  • retinitis pigmentosa 36; RP36  (610599) 
    		•  NM_001077620 search NEIBank  768206   634380   SNP
    330 17q25   607643  fascin homolog 2, actin-bundling protein, retinal  FSCN2 
  • retinitis pigmentosa 30; RP30  (607921) 
    		•  NM_012418 search NEIBank  25794   118555   SNP
    331 17q24   604313  galactokinase 1   GALK1 
  • galactoskinase deficiency  (230200) 
    		•  NM_000154 search NEIBank  2584   407966   SNP
    332 17q24-q25|17q25.1   609751  acyl-Coenzyme A oxidase 1, palmitoyl  ACOX1 
  • peroxisomal acyl-CoA oxidase deficiency  (264470) 
    		•  NM_004035 search NEIBank  51   464137   SNP
    333 17q23.2   605073  tripartite motif-containing 37  TRIM37 
  • mulibrey nanism  (253250) 
    		•  NM_001005207 search NEIBank  4591   412767   SNP
    334 17q23   114760  carbonic anhydrase IV precursor   CA4 
  • retinitis pigmentosa 17; RP17  (600852) 
    		•  NM_000717 search NEIBank  762   89485   SNP
    335 17q23-q24   604067  regulator of G-protein signaling 9  RGS9 
  • prolonged electroretinal response suppression; PERRS  (608415) 
    		•  NM_003835 search NEIBank  8787   132327   SNP
    336 17q22   609883  Meckel syndrome, type 1  MKS1 
  • Meckel syndrome, type1; MKS1  (249000) 
    		•  NM_017777 search NEIBank  54903   408843   SNP
    337 17q21   165330  wingless-type MMTV integration site family, member 3  WNT3 
  • tetra-amelia, autosomal recessive  (273395) 
    		•  NM_030753 search NEIBank  7473   463275   SNP
    338 17q12   601687  keratin 12  KRT12 
  • juvenile epithelial corneal dystrophy of Meesmann  (122100) 
    		•  NM_000223 search NEIBank  3859   66739   SNP
    339 17q12   601758  peroxisomal biogenesis factor 12  PEX12 
  • Zellweger syndrome; ZS  (214100) 
    		•  NM_000286 search NEIBank  5193   270532   SNP
    340 17q12-q21   605740  sclerostin; SOST  SOST 
  • sclerosteosis; SOST  (269500) 
    		•  NM_025237 search NEIBank  50964   349204   SNP
    341 17q11.2-q12   123610  crystallin,beta A3   CRYBA1 
  • congenital zonular cataract with sutural opacities; CCZS  (600881) 
    		•  NM_005208 search NEIBank  1411   46275   SNP
    342 17q11.2   162200  neurofibromin   PTPN11 
  • Noonan syndrome 1; SN1  (163950) 
  • Watson syndrome  (193520) 
  • neurofibromatosis-Noonan syndrome; NFNS  (601321) 
  • pheochromocytoma  (171300) 
    		•  NM_000267 search NEIBank  4763   435956   SNP
    343 17q11.2   604011  unc-119 homolog (C. elegans)  UNC119 
  • dominant cone-rod dystrophy  (604011) 
    		•  NM_005148 search NEIBank  9094   410455   SNP
    344 18q23   604927  CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1  CTDP1 
  • congenital cataracts, facial dysmorphism and neuropathy  (604168) 
    		•  NM_004715 search NEIBank  9150   465490   SNP
    345 18q21.32   601881  retina and anterior neural fold homeobox  RAX 
  • microphthamia 3, isolated; MCOP3  (611038) 
    		•  NM_013435 search NEIBank  30062   278957   SNP
    346 19p13.3-p13.2   120700  complement component 3  C3 
  • age-related macular degeneration 9; ARMD9  (611378) 
    		•  NM_000064 search NEIBank  718   529053   SNP
    347 19p13.3   601263  mitogen-activated protein kinase kinase 2  MAP2K2 
  • cardiofaciocutaneous syndrome  (115150) 
    		•  NM_030662 search NEIBank  5605   465627   SNP
    348 19p13.3   601825  NADH dehydrogenase (ubiquinone) Fe-S protein 7  NDUFS7 
  • Leigh syndrome  (256000) 
    		•  NM_024407 search NEIBank  374291   211914   SNP
    349 19p13.3-p13.2   605248  mucolipin 1   MCOLN1 
  • mucolipidosis IV  (252650) 
    		•  NM_020533 search NEIBank  57192   534475   SNP
    350 19p13.3   606945  low density lipoprotein receptor   LDLR 
  • hypercholesterolemia, autosomal dominant  (143890) 
    		•  NM_000527 search NEIBank  3949   213289   SNP
    351 19p13.3-p13.2   608990  ADAM metallopeptidase with thrombospondin type 1 motif, 10  ADAMTS10 
  • Weill-Marchesani syndrome, autosomal recessive  (277600) 
    		•  NM_030957 search NEIBank  81794   465818   SNP
    352 19p13.3   610362  retina and anterior neural fold homeobox 2  RAX2 
  • age-related macular degeneration 6; ARMD6  (610362) 
  • cone-rod dystrophy 11  (610381) 
    		•  NM_032753 search NEIBank  84839   532691   SNP
    353 19p13.2-p13.1   600276  Notch homolog 3   NOTCH3 
  • cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy; CADASIL  (125310) 
    		•  NM_000435 search NEIBank  4854   8546   SNP
    354 19p13   610362  retina and anterior neural fold homeobox-like1; RAXL1  RAXL1 
  • cone-rod dystrophy 11  (610362) 
  • macular degeneration age-related, 6, included; ARMD6  (610362) 
    		•  NM_032753 search NEIBank  84839   532691   SNP
    355 19q13.42   606419  pre-mRNA processing factor 31 homolog   PRPF31 
  • retinitis pigmentosa 11; RP11  (600138) 
    		•  NM_015629 search NEIBank  26121   515598   SNP
    356 19q13.4   154045  lens intrinsic membrane protein 2  LIM2 
  • cortical pulverulent cataract, late-onset  (154045) 
    		•  NM_030657 search NEIBank  3982   162754   SNP
    357 19q13.32   606580  optic atrophy 3  OPA3 
  • 3-alpha methylglutaconicaciduria, type III  (258501) 
  • optic atrophy and cataract, autosomal dominant  (165300) 
    		•  NM_025136 search NEIBank  80207   531252   SNP
    358 19q13.32   606596  fukutin related protein  FKRP 
  • Walker-Warburg syndrome  (236670) 
    		•  NM_024301 search NEIBank  79147   515493   SNP
    359 19q13.31   608451  ethylmalonic encephalopathy 1  ETHE1 
  • ethylmalonic encephalopathy  (602473) 
    		•  NM_014297 search NEIBank  23474   7486   SNP
    360 19q13.3   126340  excision repair cross-complementing rodent repair deficiency, complementation group 2  ERCC2 
  • trichotheodystrophy; TTD  (601675) 
  • xeroderma pigmentosum, complementation group D; XPD  (278730) 
    		•  NM_000400 search NEIBank  2068   487294   SNP
    361 19q13.3   130410  electron-transfer-flavoprotein, beta polypeptide  ETFB 
  • multiple acyl-CoA dehydrogenase deficiency; MADD  (231680) 
    		•  NM_001985 search NEIBank  2109   654553   SNP
    362 19q13.3-q13.4   134790  ferritin, light polypeptide   FTL 
  • hyperferritinemia-cataract syndrome  (600886) 
    		•  NM_000146 search NEIBank  2512   433670   SNP
    363 19q13.3   602225  cone-rod homeobox protein   CRX 
  • cone-rod dystrophy 2; CORD2  (120970) 
    		•  NM_000554 search NEIBank  1406   249186   SNP
    364 19q13.3   605377  myotonic dystrophy protein kinase   DMPK 
  • dystrophia myotonica 1  (160900) 
    		•  NM_004409 search NEIBank  1760   466956   SNP
    365 19q13.2   107741  apolipoprotein E  APOE 
  • age-related macular degeneration 1; ARMD1  (603075) 
  • sea-blue histiocyte disease  (269600) 
    		•  NM_000041 search NEIBank  348   515465   SNP
    366 19q13.12   607814  regulator of G protein signaling 9 binding protein  RGS9BP 
  • prolonged electroretinal response suppression; PERRS  (608415) 
    		•  NM_207391 search NEIBank  388531   528491   SNP
    367 20p13   606157  pantothenate kinase 2 isoform 1   PANK2 
  • hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration  (607236) 
  • pantothenate kinase-associated neurodegeneration; PKAN  (234200) 
    		•  NM_153638 search NEIBank  80025   516859   SNP
    368 20p12.1-p11.23   601920  jagged 1   JAG1 
  • Alagille syndrome; AGS  (118450) 
    		•  NM_000214 search NEIBank  182   224012   SNP
    369 20p12   604896  McKusick-Kaufman syndrome  MKKS 
  • Bardet-Biedl syndrome; BBS6  (209900) 
    		•  NM_018848 search NEIBank  8195   472119   SNP
    370 20p12   610206  solute carrier family 4, sodium borate transporter, member 11  SLC4A11 
  • corneal endothelial dystrophy 2; CHED2  (217700) 
    		•  NM_032034 search NEIBank  83959   105607   SNP
    371 20p11.23-p12.1   603307  beaded filament structural protein 1, filensin  BFSP1 
  • cortical cataract, juvenile-onset  (611391) 
    		•  NM_001195 search NEIBank  631   129702   SNP
    372 20p11.23-p11.22   605020  visual system homeobox 1  VSX1 
  • keratoconus 1; KTCN1  (148300) 
  • posterior polymorphous corneal dystrophy 1; PPCD1  (122000) 
    		•  NM_014588 search NEIBank  30813   274264   SNP
    373 20p11   604312  cystatin 3; CST3  CST3 
  • macular degeneration, age-related, 11  (604312) 
    		•  NM_000099 search NEIBank  1471   304682   SNP
    374 20q13.2-q13.3   131242  endothelin 3  EDN3 
  • Waardenburg-Shah syndrome  (277580) 
    		•  NM_000114 search NEIBank  1908   1408   SNP
    375 20q13.13-q13.2   607343  sal-like 4   SALL4 
  • Duane-radial ray syndrome; DRRS  (607323) 
    		•  NM_020436 search NEIBank  57167   517113   SNP
    376 20q11.22   610897  chromatin modifying protein 4B  CHMP4B 
  • posterior polar cataract 3; CTPP3  (605387) 
    		•  NM_176812 search NEIBank  128866   472471   SNP
    377 20q11.2   601002  glutathione synthetase  GSS 
  • glutathione synthetase deficiency  (266130) 
    		•  NM_000178 search NEIBank  2937   82327   SNP
    378 21q22.3   120328  collagen, type XVIII, alpha 1  COL18A1 
  • Knobloch syndrome type I; KNO  (267750) 
    		•  NM_030582 search NEIBank  80781   517356   SNP
    379 21q22.3   123580  crystallin, alpha A  CRYAA 
  • cataract-microcornea syndrome  (116150) 
  • zonular central nuclear cataract  (123580) 
    		•  NM_000394 search NEIBank  1409   184085   SNP
    380 21q22.3   236200  cystathionine-beta-synthase  CBS 
  • ectopia lentis, myopia, glaucoma  (236200) 
    		•  NM_000071 search NEIBank  875   533013   SNP
    381 22q13.31-qter|22q13.33   607574  arylsulfatase A precursor   ARSA 
  • metrachromatic leukodystrophy  (250100) 
    		•  NM_000487 search NEIBank  410   88251   SNP
    382 22q13.1   160775  myosin, heavy polypeptide 9, non-muscle   MYH9 
  • Fechtner syndrome; FTNS  (153640) 
    		•  NM_002473 search NEIBank  4627   474751   SNP
    383 22q13.1   602229  SRY (sex determining region Y)-box 10   SOX10 
  • Yemenite deaf-blind hypopigmentation syndrome  (601706) 
    		•  NM_006941 search NEIBank  6663   376984   SNP
    384 22q13-qter|22q11   104170  N-acetylgalactosaminidase, alpha-   NAGA 
  • Kanzaki disease  (609242) 
  • Schindler disease, type I  (609241) 
    		•  NM_000262 search NEIBank  4668   75372   SNP
    385 22q12.3   603590  like-glycosyltransferase  LARGE 
  • Walker-Warburg syndrome  (236670) 
  • congenital musclear dystrophy, type 1D  (608840) 
    		•  NM_004737 search NEIBank  9215   474667   SNP
    386 22q12.2   607379  neurofibromin 2 isoform 1   NF2 
  • neurofibromatosis, type II NF2  (101000) 
    		•  NM_000268 search NEIBank  4771   187898   SNP
    387 22q12.1   123631  crystallin, beta A4  CRYBA4 
  • isolated microphthalmia with cataract 4  (610426) 
  • lamellar cataract 2  (610425) 
    		•  NM_001886 search NEIBank  1413   57690   SNP
    388 22q12.1-q13.2|22q12.3   188826  TIMP metallopeptidase inhibitor 3  TIMP3 
  • pseduoinflammatory fundus dystrophy of Sorsby; SFD  (136900) 
    		•  NM_000362 search NEIBank  7078   297324   SNP
    389 22q11.21   608666  peroxisome biogenesis factor 26  PEX26 
  • Refsum disease, infantile form  (266510) 
    		•  NM_017929 search NEIBank  55670   517400   SNP
    390 22q11.2-q12.1|22q11.23   123630  crystallin, beta B3  CRYBB3 
  • congenital nuclear cataract 2, autosomal recessive; CATCN2  (609741) 
    		•  NM_004076 search NEIBank  1417   533022   SNP
    391 22q11.2|22q12.1   600929  crystallin, beta B1  CRYBB1 
  • cataract, pulvreulent included  (600929) 
    		•  NM_001887 search NEIBank  1414   37135   SNP
    392   516050  mitochondrially encoded cytochrome c oxidase III  MTCO3 
  • Leigh syndrome  (256000) 
    		•  NC_001810 search NEIBank  4514     SNP
    393 Xp22.32   308100  steroid sulfatase  STS 
  • ichthyosis, X-linked  (308100) 
    		•  NM_000351 search NEIBank  412   522578   SNP
    394 Xp22.3   156845  G protein-coupled receptor 143   OA1 
  • ocular albinism with sensorineural deafness  (103470) 
    		•  NM_000273 search NEIBank  4935   74124   SNP
    395 Xp22.3   300056  holocytochrome c synthase  HCCS 
  • syndromic microphthalmia 7; MCOPS7  (309801) 
    		•  NM_005333 search NEIBank  3052   211571   SNP
    396 Xp22.3   300180  arylsulfatase E  ARSE 
  • chondrodysplasia punctata 1, X-linked recessive; CDPX1  (302950) 
    		•  NM_000047 search NEIBank  415   386975   SNP
    397 Xp22.3   300500  G protein-coupled receptor 143  GPR143 
  • ocular albinism, type 1  (300500) 
    		•  NM_000273 search NEIBank  4935   74124   SNP
    398 Xp22.2-p22.1   312700  retinoschisis (X-linked, juvenile) 1  XLRS1 
  • X-linked retinoschisis 1, juvenile; RS1  (312700) 
    		•  NM_000330 search NEIBank  6247   278168   SNP
    399 Xp22.13   300457  Nance-Horan syndrome  NHS 
  • cataract-dental syndrome  (302350) 
    		•  NM_198270 search NEIBank  4810   201623   SNP
    400 Xp22.1-p21.3   300382  aristaless related homeobox   ARX 
  • agenesis of corpus callosum with abnormal genitalia  (300004) 
    		•  NM_139058 search NEIBank  170302   300304   SNP
    401 Xp22.1   313020  spermidine/spermine N1-acetyltransferase   SAT 
  • kerotosis follicularis spinulosa decalvans; KFSD  (308800) 
    		•  NM_002970 search NEIBank  6303   28491   SNP
    402 Xp22   300202  trafficking protein particle complex 2  SEDL 
  • spondyloepiphyseal dysplasia tarda, X-linked; SEDT  (313400) 
    		•  NM_014563 search NEIBank  6399   201054   SNP
    403 Xp21.2-p11.4   300485  BCL6 co-repressor  BCOR 
  • syndromic microphthalmia 2; MCOPS2  (300166) 
    		•  NM_017745 search NEIBank  54880   659681   SNP
    404 Xp11.4   300278  nyctalopin   NYX 
  • congenital stationary night blindness, type 1; CSNB1A  (310500) 
    		•  NM_022567 search NEIBank  60506   302019   SNP
    405 Xp11.4   300658  Norrie disease  NDP 
  • Norrie disease; ND  (310600) 
  • exudative vitreoretinopathy, familial, X-linked recessive; EVR2  (305390) 
    		•  NM_000266 search NEIBank  4693   522615   SNP
    406 Xp11.4-p11.21   312600  retinitis pigmentosa 2  RP2 
  • retinitis pigmentosa 2; RP2  (312600) 
    		•  NM_006915 search NEIBank  6102   44766   SNP
    407 Xp11.4   312610  retinitis pigmentosa GTPase regulator  RPGR 
  • cone-rod dystrophy 1, X-linked; CORDX1  (304020) 
  • retinitis pigmentosa 15; RP15  (300029) 
  • retinitis pigmentosa 3; RP3  (300389) 
    		•  NM_000328 search NEIBank  6103   61438   SNP
    408 Xp11.23   300110  calcium channel, voltage-dependent, L type, alpha 1F subunit  CACNA1F 
  • Aland Island eye disease; AIED  (300600) 
  • congenital stationary night blindness, type 2; CSNB2  (300071) 
    		•  NM_005183 search NEIBank  778   139263   SNP
    409 Xp11.23-p11.22   300205  emopamil binding protein (sterol isomerase)   EBP 
  • chondrodysplasia punctata 2, X-linked dominant; CDPX2  (302960) 
    		•  NM_006579 search NEIBank  10682   522636   SNP
    410 Xp11.22-p11.21   314690  jumonji, AT rich interactive domain 1C  JARID1C 
  • syndromic X-linked mental retardation, JARID1C-related  (300534) 
    		•  NM_004187 search NEIBank  8242   631768   SNP
    411 Xp11.2   300256  hydroxysteroid (17-beta) dehydrogenase 10  HADH2 
  • hydroxyacyl-CoA dehydrogenase II deficiency  (300438) 
    		•  NM_004493 search NEIBank  3028   171280   SNP
    412 Xq13.1-q13.3   300139  immunoglobulin binding protein 1   IGBP1 
  • agenesis of corpus callosum with mental retardation, ocular coloboma, and micrognathia  (300472) 
    		•  NM_001551 search NEIBank  3476   496267   SNP
    413 Xq21-q27   311850  phosphoribosyl pyrophosphate synthetase 1  PRPS1 
  • gout with hypotelorism and hyperopia  (311850) 
    		•  NM_002764 search NEIBank  5631   56   SNP
    414 Xq21.2   300390  choroideremia (Rab escort protein 1)   CHM 
  • choroideremia; CHM  (303100) 
    		•  NM_000390 search NEIBank  1121   496449   SNP
    415 Xq22   300401  proteolipid protein 1  PLP1 
  • Pelizaeus-Merzbacher disease; PMD  (312080) 
  • spastic paraplegia 2, X-linked; SPG2  (312920) 
    		•  NM_000533 search NEIBank  5354   1787   SNP
    416 Xq22   301500  galactosidase, alpha  GLA 
  • Fabry disease  (301500) 
    		•  NM_000169 search NEIBank  2717   69089   SNP
    417 Xq22   303630  collagen, type IV, alpha 5   COL4A5 
  • Alport syndrome, X-linked; ATS  (301050) 
  • esophageal and vulva leiomyomatosis with nephropathy  (308940) 
    		•  NM_000495 search NEIBank  1287   369089   SNP
    418 Xq22   303631  collagen, type IV, alpha 6  COLA4A6 
  • esophageal and vulva leiomyomatosis with nephropathy  (308940) 
    		•  NM_001847 search NEIBank  1288   145586   SNP
    419 Xq22.1   300356  translocase of inner mitochondrial membrane 8   TIMM8A 
  • Mohr-Tranebjaerg syndrome; MTS  (304700) 
  • opticoacoustic nerve atrophy with dementia  (311150) 
    		•  NC_001807 search NEIBank  1678   447877   SNP
    420 Xq25-q26.1   300535  oculocerebrorenal syndrome of Lowe  OCRL 
  • Lowe oculocerebrorenal syndrome  (309000) 
    		•  NM_000276 search NEIBank  4952   126357   SNP
    421 Xq26.1   300037  glypican 3  GPC3 
  • Simpson-Golabi-Behmel syndrome type 1; SGBS1  (312870) 
    		•  NM_004484 search NEIBank  2719   435036   SNP
    422 Xq28   300126  dyskerin  DKC1 
  • dyskeratosis congenita, X-linked; DKC  (305000) 
    		•  NM_001363 search NEIBank  1736   4747   SNP
    423 Xq28   300248  inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma  IKBKG 
  • incontinentia pigmenti; IP  (308300) 
    		•  NM_003639 search NEIBank  8517   43505   SNP
    424 Xq28   300371  ATP-binding cassette, sub-family D (ALD), member 1  ABCD1 
  • adrenoleukodystrophy; ALD  (300100) 
    		•  NM_000033 search NEIBank  215   159546   SNP
    425 Xq28   303800  opsin 1 (cone pigments), medium-wave-sensitive  OPN1MW 
  • partial colorblindness, deutan series; CBD  (303800) 
    		•  NM_000513 search NEIBank  2652   247787   SNP
    426 Xq28   303900  opsin 1 (cone pigments), long-wave-sensitive  OPN1LW 
  • partial colorblindness, protan series; CBP  (303900) 
    		•  NM_020061 search NEIBank  5956   528663   SNP
    427 Xq28   309900  iduronate 2-sulfatase   IDS 
  • mucopolysaccharidosis type II  (309900) 
    		•  NM_000202 search NEIBank  3423   303154   SNP
    428 mitochondria   103220  solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4  SLC25A4 
  • progressive external opthalmoplegia with mitochondrial DNA deletions; PEO  (157640) 
    		•  NC_001807 search NEIBank  291   246506   SNP
    429 mitochondria   516003  mitochondrially encoded NADH dehydrogenase 4  MTND4 
  • Leber optic atrophy  (535000) 
    		•  NP_536852 search NEIBank  4538     SNP
    430 mitochondria   516004  mitochondrially encoded NADH 4L  MTND4L 
  • Leber optic atrophy  (535000) 
    		•  NP_536851 search NEIBank  4539     SNP
    431 mitochondria   516006  mitochondrially encoded NADH dehydrogenase 6  MTND6 
  • Leber optic atrophy  (535000) 
  • Leigh syndrome  (256000) 
  • familial dystonia with visual failure and striatal lucencies  (500001) 
  • mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes; MELAS  (540000) 
    		•  NC_001807 search NEIBank  4541     SNP
    432 mitochondria   516050  mitochondrially encoded cytochrome c oxidase III  MTCO3 
  • Leber optic atrophy  (535000) 
    		•  NP_536849 search NEIBank  4514     SNP
    433 mitochondria   516060  mitochondrially encoded ATP synthase 6  MTATP6 
  • Leber optic atrophy  (535000) 
  • Leigh syndrome  (256000) 
  • mitochondrial striatonigral degeneration, infantile  (500003) 
  • neuropathy, ataxia, and retinitis pigmentosa  (551500) 
    		•  NC_001807 search NEIBank  4508     SNP
    434 mitochondria   590040  mitochondrially encoded tRNA histidine  MTTH 
  • pigmentary retinopathy and sensorineural deafness  (590040) 
    		•  NC_001807 search NEIBank  4564     SNP
    435 mitochondria   516000  mitochondrially encoded NADH dehydrogenase 1  MTND1 
  • Leber optic atrophy  (535000) 
    		•  NC_001807 search NEIBank  4535     SNP
    436 mitochondria   516001  mitochondrially encoded NADH dehydrogenase 2  MTND2 
  • Leber optic atrophy  (535000) 
    		•  NC_001807 search NEIBank  4536     SNP
    437 mitochondria   516002  mitochondrially encoded NADH dehydrogenase 3  MTND3 
  • Leigh syndrome  (256000) 
    		•  NC_001807 search NEIBank  4537     SNP
    438 mitochondria   516005  mitochondrially encoded NADH dehydrogenase 5  MTND5 
  • Leigh syndrome  (256000) 
    		•  NC_001807 search NEIBank  4540     SNP
    439 mitochondria   516020  mitochondrially encoded cytochrome b  MTCYB 
  • Leber optic atrophy  (535000) 
    		•  NC_001807 search NEIBank  4519     SNP
    440 mitochondria   516030  mitochondrially encoded cytochrome c oxidase I  MTCO1 
  • Leber optic atrophy  (535000) 
    		•  NC_001807 search NEIBank  4512     SNP
    441 mitochondria   590050  mitochondrially encoded tRNA leucine 1 (UUA/G)  MTTL1 
  • age-related macular degeneration 1; ARMD1  (603075) 
  • diabetes-deafness syndrome, maternally transmitted  (520000) 
    		•  NC_001807 search NEIBank  4567     SNP
    442 mitochondria   590060  mitochondrially encoded tRNA lysine  MTTK 
  • Leigh syndrome  (256000) 
    		•  NC_001807 search NEIBank  4566     SNP
    443 mitochondria   590080  mitochondrially encoded tRNA serine 1 (UCN)  MTTS1 
  • mitochondrial respiratory chain deficiency of complex IV  (220110) 
    		•  NC_001807 search NEIBank  4574     SNP
    444 mitochondria   590085  mitochondrially encoded tRNA serine 2 (AGU/C)  MTTS2 
  • retinitis pigmentosa-deafness syndrome  (500004) 
    		•  NC_001807 search NEIBank  4575     SNP
    445 mitochondria   590095  mitochondrially encoded tRNA tryptophan  MTTW 
  • Leigh syndrome  (256000) 
    		•  NC_001807 search NEIBank  4578     SNP
    446 mitochondria   590105  mitochondrially encoded tRNA valine MTTV 
  • Leigh syndrome  (256000) 
    		•  NC_001807 search NEIBank  4577     SNP


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