# |
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  |
|
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  |
|
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  |
|
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  |
|
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  |
|
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  |
|
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  |
|
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  |
|
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  |
|
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  |
|
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  |
|
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  |
|
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
|