|
G |
Ahi1 |
Abelson helper integration site 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20081859 |
|
NCBI chrNW_004936560:2,881,631...3,057,256
|
|
G |
Arg2 |
arginase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30618589 |
|
NCBI chrNW_004936495:11,004,296...11,045,467
|
|
G |
Bax |
BCL2 associated X, apoptosis regulator |
|
ISO |
protein:increased expression:retina (rat) |
RGD |
PMID:24166353 |
RGD:11522757 |
NCBI chrNW_004936664:2,968,103...2,973,652
|
|
G |
Bbs4 |
Bardet-Biedl syndrome 4 |
severity |
ISO |
|
RGD |
PMID:23943788 |
RGD:11537379 |
NCBI chrNW_004936471:31,962,500...32,019,516
|
|
G |
Bcl2 |
BCL2 apoptosis regulator |
treatment |
ISO |
protein:increased expression:retina (rat) CTD Direct Evidence: therapeutic |
RGD CTD |
PMID:8692941 PMID:10704489 PMID:24166353 |
RGD:11522757 RGD:8554863 |
NCBI chrNW_004936497:2,209,136...2,373,580
|
|
G |
Bdnf |
brain derived neurotrophic factor |
treatment |
ISO |
|
RGD |
PMID:12454046 PMID:12764104 PMID:16123443 PMID:17525224 |
RGD:8655588 RGD:8655627 RGD:8655652 RGD:8655860 |
NCBI chrNW_004936540:5,530,081...5,582,765
|
|
G |
C1qtnf5 |
C1q and TNF related 5 |
|
ISO |
ClinVar Annotator: match by term: Retinal degeneration |
ClinVar |
PMID:18648522 PMID:19169412 PMID:22892318 PMID:24531000 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936542:4,269,636...4,271,497
|
|
G |
C3 |
complement C3 |
|
ISO |
mRNA:increased expression:retina |
RGD |
PMID:21467172 PMID:21571681 |
RGD:7364947 RGD:7401257 |
NCBI chrNW_004936588:3,985,732...4,023,221
|
|
G |
Cep290 |
centrosomal protein 290 |
onset |
ISO |
|
RGD |
PMID:16632484 PMID:26936822 |
RGD:11537380 RGD:8662295 |
NCBI chrNW_004936507:5,223,756...5,305,392
|
|
G |
Cfb |
complement factor B |
treatment |
ISO |
|
RGD |
PMID:21467172 |
RGD:7364947 |
NCBI chrNW_004936727:1,595,872...1,602,274
|
|
G |
Clcn7 |
chloride voltage-gated channel 7 |
|
ISO |
|
RGD |
PMID:11207362 |
RGD:737783 |
NCBI chrNW_004936694:2,444,321...2,467,734
|
|
G |
Clu |
clusterin |
treatment |
ISO |
|
RGD |
PMID:18085470 |
RGD:9068394 |
NCBI chrNW_004936675:499,745...513,515
|
|
G |
Cp |
ceruloplasmin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12572680 |
|
NCBI chrNW_004936519:6,431,156...6,473,183
|
|
G |
Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:20361964 PMID:22545116 |
RGD:9479077 |
NCBI chrNW_004936473:28,508,726...28,535,640
|
|
G |
Dmd |
dystrophin |
disease_progression |
ISO |
|
RGD |
PMID:10359335 |
RGD:1300412 |
NCBI chrNW_004936553:7,157,526...7,943,703
|
|
G |
Edn1 |
endothelin 1 |
|
ISO |
protein:altered expression:retinal pigment epithelium, outer plexiform layer, retinal astrocyte (mouse) |
RGD |
PMID:16129094 PMID:22729434 |
RGD:8661730 RGD:8661732 |
NCBI chrNW_004936534:885,489...892,292
|
|
G |
Epo |
erythropoietin |
treatment |
ISO |
|
RGD |
PMID:21421996 |
RGD:10400896 |
NCBI chrNW_004936543:742,722...745,332
|
|
G |
Esr2 |
estrogen receptor 2 |
|
ISO |
|
RGD |
PMID:19799898 |
RGD:8694106 |
NCBI chrNW_004936495:7,956,168...8,018,356
|
|
G |
Gdnf |
glial cell derived neurotrophic factor |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:17935603 |
|
NCBI chrNW_004936518:4,291,391...4,310,752
|
|
G |
Gucy2f |
guanylate cyclase 2F, retinal |
|
ISO |
mRNA:decreased expression:retina: |
RGD |
PMID:15718098 |
RGD:10045823 |
NCBI chrNW_004936499:5,653,384...5,752,732
|
|
G |
Hdac4 |
histone deacetylase 4 |
treatment |
ISO |
|
RGD |
PMID:19131628 |
RGD:9681456 |
NCBI chrNW_004936745:1,730,743...1,942,071
|
|
G |
Hfe |
homeostatic iron regulator |
|
ISO |
|
RGD |
PMID:19715555 |
RGD:8694351 |
NCBI chrNW_004936671:1,940,079...1,947,574
|
|
G |
Hgf |
hepatocyte growth factor |
treatment |
ISO |
|
RGD |
PMID:15505072 |
RGD:8548603 |
NCBI chrNW_004936734:354,798...428,356
|
|
G |
Ift80 |
intraflagellar transport 80 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17468754 |
|
NCBI chrNW_004936708:238,302...362,537
|
|
G |
Il6st |
interleukin 6 signal transducer |
|
ISO |
|
RGD |
PMID:19948961 |
RGD:10402848 |
NCBI chrNW_004936480:11,867,573...11,913,563
|
|
G |
Impdh1 |
inosine monophosphate dehydrogenase 1 |
|
ISO |
mRNA:decreased expression:retina (mouse) |
RGD |
PMID:11875049 PMID:14981049 |
RGD:5144136 RGD:5144221 |
NCBI chrNW_004936479:15,523,342...15,540,229
|
|
G |
Kcnj10 |
potassium inwardly rectifying channel subfamily J member 10 |
|
ISO |
|
RGD |
PMID:22055109 |
RGD:8662888 |
NCBI chrNW_004936740:555,948...589,219
|
|
G |
LOC101956249 |
optineurin |
|
ISO |
|
RGD |
PMID:20388642 |
RGD:6480507 |
NCBI chrNW_004936862:488,591...516,819
|
|
G |
Mertk |
MER proto-oncogene, tyrosine kinase |
treatment |
ISO |
|
RGD |
PMID:11592982 |
RGD:69668 |
NCBI chrNW_004936783:607,425...704,879
|
|
G |
Mfrp |
membrane frizzled-related protein |
treatment |
ISO |
DNA:mutation:splice junction: ClinVar Annotator: match by term: Retinal degeneration |
RGD ClinVar |
PMID:12140190 PMID:18648522 PMID:19169412 PMID:22142163 PMID:22892318 PMID:24531000 PMID:25741868 PMID:28492532 |
RGD:11553878 RGD:11553928 |
NCBI chrNW_004936542:4,272,250...4,277,231
|
|
G |
Mt3 |
metallothionein 3 |
|
ISO |
|
RGD |
PMID:23132798 |
RGD:10412646 |
NCBI chrNW_004936475:8,864,512...8,866,516
|
|
G |
Nmnat1 |
nicotinamide nucleotide adenylyltransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22842230 |
|
NCBI chrNW_004936623:3,862,234...3,891,849
|
|
G |
Nos3 |
nitric oxide synthase 3 |
treatment |
ISO |
protein:increased expression:retina (rat) |
RGD |
PMID:16209285 |
RGD:7775035 |
NCBI chrNW_004936527:6,427,147...6,445,770
|
|
G |
Nrl |
neural retina leucine zipper |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15591106 |
|
NCBI chrNW_004936722:448,006...454,064
|
|
G |
Ofd1 |
OFD1 centriole and centriolar satellite protein |
|
ISO |
mRNA, protein:decreased expression:retina |
RGD |
PMID:27196396 |
RGD:11535964 |
NCBI chrNW_004936470:3,292,961...3,331,915
|
|
G |
Pak3 |
p21 (RAC1) activated kinase 3 |
|
ISO |
mRNA, protein:increased expression:retina |
RGD |
PMID:16505058 |
RGD:7775028 |
NCBI chrNW_004936499:4,079,127...4,328,580
|
|
G |
Pak4 |
p21 (RAC1) activated kinase 4 |
|
ISO |
mRNA:increased expression:retina |
RGD |
PMID:16505058 |
RGD:7775028 |
NCBI chrNW_004936661:2,012,439...2,048,523
|
|
G |
Pde6b |
phosphodiesterase 6B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8692941 PMID:16123450 PMID:17213800 PMID:24586289 |
|
NCBI chrNW_004936477:22,418,037...22,472,251
|
|
G |
Pkd2 |
polycystin 2, transient receptor potential cation channel |
|
ISO |
|
RGD |
PMID:16943309 |
RGD:13524568 |
NCBI chrNW_004936905:76,781...128,995
|
|
G |
Prph2 |
peripherin 2 |
|
ISO |
DNA:polymorphism:cds:p.S27F(human) DNA:polymorphism:cds:p.P210R(human) DNA:polymorphism:cds:874A>G(p.S212G)(human) |
RGD |
PMID:2918924 PMID:7862413 PMID:9052636 PMID:10888879 PMID:18050133 |
RGD:8553191 RGD:8553193 RGD:8553212 RGD:8553215 RGD:8553219 |
NCBI chrNW_004936476:17,159,756...17,174,226
|
|
G |
Rax2 |
retina and anterior neural fold homeobox 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15028672 |
|
NCBI chrNW_004936588:2,133,398...2,135,329
|
|
G |
Rd3 |
RD3 regulator of GUCY2D |
|
ISO |
DNA:nonsense mutation:cds: DNA:mutations:splice junction,cds: |
RGD |
PMID:17186464 |
RGD:11560484 |
NCBI chrNW_004936557:1,852,996...1,873,070
|
|
G |
Rdh12 |
retinol dehydrogenase 12 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16269441 |
|
NCBI chrNW_004936495:11,111,247...11,121,976
|
|
G |
Rho |
rhodopsin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:8692941 PMID:17525223 PMID:27233447 |
RGD:8548485 |
NCBI chrNW_004936602:896,730...901,480
|
|
G |
Ripk3 |
receptor interacting serine/threonine kinase 3 |
|
ISO |
|
RGD |
PMID:23954861 |
RGD:7777167 |
NCBI chrNW_004936722:209,019...212,817
|
|
G |
Rom1 |
retinal outer segment membrane protein 1 |
|
ISO |
|
RGD |
PMID:10802659 |
RGD:8553197 |
NCBI chrNW_004936581:642,322...644,286
|
|
G |
Rpe65 |
retinoid isomerohydrolase RPE65 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Retinal degeneration |
CTD ClinVar |
PMID:9326941 PMID:9501220 PMID:18632300 PMID:24849605 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936591:3,347,346...3,368,062
|
|
G |
Rpgr |
retinitis pigmentosa GTPase regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15671266 PMID:19430481 |
RGD:8553201 |
NCBI chrNW_004936502:5,163,164...5,212,940
|
|
G |
Rpgrip1l |
RPGRIP1 like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19430481 |
|
NCBI chrNW_004936475:6,219,187...6,321,612
|
|
G |
Serpinf1 |
serpin family F member 1 |
treatment |
ISO |
human protein in a mouse model |
RGD |
PMID:10600408 |
RGD:8554889 |
NCBI chrNW_004936538:7,885,816...7,898,308
|
|
G |
Slc1a1 |
solute carrier family 1 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28703795 |
|
NCBI chrNW_004936503:613,250...690,555
|
|
G |
Slc6a6 |
solute carrier family 6 member 6 |
|
ISO |
ClinVar Annotator: match by term: Retinal degeneration |
ClinVar |
PMID:25741868 PMID:31345061 PMID:31903486 |
|
NCBI chrNW_004936602:233,753...274,982
|
|
G |
Sod1 |
superoxide dismutase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:16741961 PMID:19074809 |
|
NCBI chrNW_004936500:10,345,154...10,352,873
|
|
G |
Tfpi2 |
tissue factor pathway inhibitor 2 |
|
ISO |
|
RGD |
PMID:15184935 |
RGD:11060273 |
NCBI chrNW_004936803:69,296...90,270
|
|
G |
Wdr36 |
WD repeat domain 36 |
|
ISO |
DNA:deletion:cds: |
RGD |
PMID:20631153 |
RGD:8548464 |
NCBI chrNW_004936531:5,513,082...5,546,515
|
|
|
G |
Htra1 |
HtrA serine peptidase 1 |
susceptibility |
ISO |
DNA:snp:promoter:g.-1894G>A (rs3793917) (human) |
RGD |
PMID:22618592 |
RGD:7394695 |
NCBI chrNW_004936486:11,271,130...11,317,271
|
|
|
G |
Apoe |
apolipoprotein E |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936706:1,512,438...1,516,805
|
|
G |
Hmcn1 |
hemicentin 1 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936481:4,212,713...4,494,469
|
|
|
G |
Tlr4 |
toll like receptor 4 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936487:6,519,140...6,532,018
|
|
|
G |
Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936473:28,508,726...28,535,640
|
|
|
G |
Cfi |
complement factor I |
susceptibility |
ISO |
ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:20203157 PMID:20513133 PMID:23685748 PMID:25986072 |
|
NCBI chrNW_004936563:960,883...998,136
|
|
|
G |
C2 |
complement C2 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936727:1,602,400...1,615,974
|
|
G |
Cfb |
complement factor B |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936727:1,595,872...1,602,274
|
|
|
G |
C9 |
complement C9 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Macular degeneration, age-related, 15 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:24036952 |
|
NCBI chrNW_004936518:2,947,956...2,994,892
|
|
|
G |
Fbln5 |
fibulin 5 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936733:136,374...200,106
|
|
|
G |
Ercc6 |
ERCC excision repair 6, chromatin remodeling factor |
susceptibility |
ISO |
ClinVar Annotator: match by term: Age-related macular degeneration 5 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9443879 PMID:10767341 PMID:16754848 PMID:17854076 PMID:18414213 PMID:19894250 PMID:22661500 PMID:22904069 PMID:23422418 PMID:25136123 PMID:25741868 PMID:25820262 PMID:28492532 |
|
NCBI chrNW_004936728:706,499...843,447
|
|
|
G |
Rax2 |
retina and anterior neural fold homeobox 2 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936588:2,133,398...2,135,329
|
|
|
G |
C3 |
complement C3 |
|
ISO |
DNA:SNPs, haplotype: :multiple |
RGD |
PMID:19899988 |
RGD:7401252 |
NCBI chrNW_004936588:3,985,732...4,023,221
|
|
G |
Cfb |
complement factor B |
no_association |
ISO |
DNA:missense mutations:cds:p.L9H, p.R32L (rs4151667, rs641153) (human) |
RGD |
PMID:19899988 |
RGD:7401252 |
NCBI chrNW_004936727:1,595,872...1,602,274
|
|
G |
Htra1 |
HtrA serine peptidase 1 |
susceptibility severity |
ISO |
DNA:polymorphisms:multiple (human) DNA:snp:promoter:g.-497C>T (rs2672598) (human) DNA:snps:promoter, exons:g.-497C>T, g.+108G>T/C, g.5230C>T (rs2672598, rs2293870, rs1049331) (human) DNA:snp:intron:g.IVS1+9824G>A (rs932275) (human) |
OMIM RGD |
PMID:18207215 PMID:18436811 PMID:19796758 PMID:19933195 |
RGD:7394713 RGD:7394719 RGD:7394721 RGD:7394722 |
NCBI chrNW_004936486:11,271,130...11,317,271
|
|
|
G |
C3 |
complement C3 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936588:3,985,732...4,023,221
|
|
|
G |
Alms1 |
ALMS1 centrosome and basal body associated protein |
susceptibility |
ISO |
DNA:frameshift mutations, nonsense mutations |
OMIM RGD |
PMID:11941369 |
RGD:1601169 |
NCBI chrNW_004936491:17,152,759...17,342,648
|
|
|
G |
Cnnm4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
|
|
NCBI chrNW_004936744:715,523...754,148
|
|
|
G |
Best1 |
bestrophin 1 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936581:1,120,681...1,132,226
|
|
G |
Fth1 |
ferritin heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Vitreoretinochoroidopathy |
ClinVar |
PMID:10453731 PMID:11713080 PMID:14615048 PMID:17898294 PMID:21273940 PMID:25741868 PMID:28492532 PMID:28687848 |
|
NCBI chrNW_004936581:1,118,905...1,120,592
|
|
|
G |
Best1 |
bestrophin 1 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936581:1,120,681...1,132,226
|
|
G |
Crb1 |
crumbs cell polarity complex component 1 |
|
ISO |
ClinVar Annotator: match by term: Bestrophinopathy, autosomal recessive |
ClinVar |
PMID:17128490 PMID:17297678 PMID:23379534 PMID:24033266 PMID:25474345 PMID:25741868 PMID:27096895 PMID:27258436 PMID:27628848 PMID:28041643 PMID:28181551 PMID:28492532 PMID:28819299 PMID:29391521 |
|
NCBI chrNW_004936567:6,347,661...6,559,731
|
|
|
G |
LOC101967774 |
cytochrome P450 4V2 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936554:3,272,139...3,293,288
|
|
|
G |
Rlbp1 |
retinaldehyde binding protein 1 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936483:15,086,485...15,097,980
|
|
|
G |
Pnpla6 |
patatin like phospholipase domain containing 6 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936588:4,608,856...4,632,198
|
|
|
G |
Chm |
CHM Rab escort protein |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936547:6,368,941...6,533,199
|
|
G |
Prph2 |
peripherin 2 |
|
ISO |
ClinVar Annotator: match by term: Progressive tapetochoroidal dystrophy |
ClinVar |
PMID:11139241 PMID:25675413 PMID:25741868 PMID:26842753 PMID:28492532 |
|
NCBI chrNW_004936476:17,159,756...17,174,226
|
|
|
G |
Rp2 |
RP2 activator of ARL3 GTPase |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936502:12,656,187...12,701,689
|
|
|
G |
Gla |
galactosidase alpha |
|
ISO |
ClinVar Annotator: match by term: Macular dystrophy, concentric annular |
ClinVar |
PMID:11889412 PMID:20360539 PMID:22905681 PMID:23219219 PMID:23806086 PMID:23935525 PMID:24015197 PMID:24033266 PMID:24088041 PMID:24582695 PMID:25382311 PMID:25687216 PMID:25741868 PMID:26866599 PMID:26990548 PMID:27657681 PMID:28340804 PMID:28492532 PMID:28646478 PMID:29132836 |
|
NCBI chrNW_004936813:474,938...484,753
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|
G |
Pde6c |
phosphodiesterase 6C |
|
ISO |
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OMIM |
|
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NCBI chrNW_004936601:1,343,538...1,393,605
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|
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G |
Acbd5 |
acyl-CoA binding domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936484:2,224,308...2,268,302
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|
G |
Adam9 |
ADAM metallopeptidase domain 9 |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar Annotator: match by term: Cone-rod degeneration |
ClinVar |
PMID:19409519 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936710:2,301,470...2,388,533
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G |
Best1 |
bestrophin 1 |
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ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936581:1,120,681...1,132,226
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G |
Cabp4 |
calcium binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar Annotator: match by term: Cone-rod degeneration |
ClinVar |
PMID:19074807 PMID:23714322 PMID:28492532 PMID:29525873 PMID:30718709 |
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NCBI chrNW_004936599:2,295,124...2,299,558
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G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:28492532 PMID:30718709 |
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NCBI chrNW_004936721:1,078,570...1,106,153
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G |
Cdhr1 |
cadherin related family member 1 |
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ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar Annotator: match by term: Cone-rod degeneration |
ClinVar |
PMID:23591405 PMID:24033266 PMID:25741868 PMID:27353947 PMID:28224992 PMID:28492532 PMID:28765526 PMID:28885867 PMID:30718709 |
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NCBI chrNW_004936767:805,910...829,838
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G |
Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30193310 PMID:30718709 |
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NCBI chrNW_004936507:5,223,756...5,305,392
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G |
Cerkl |
ceramide kinase like |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:14681825 PMID:21151602 PMID:22164218 PMID:24043777 PMID:24625443 PMID:25097241 PMID:25741868 PMID:25999674 PMID:28041643 PMID:28492532 PMID:30718709 PMID:221642182 |
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NCBI chrNW_004936509:10,294,247...10,404,743
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G |
Cln3 |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936501:11,955,334...11,967,338
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G |
Cnga1 |
cyclic nucleotide gated channel subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:7479749 PMID:24033266 PMID:24265693 PMID:25326637 PMID:25741868 PMID:28492532 PMID:28981474 PMID:30718709 |
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NCBI chrNW_004936482:14,091,343...14,107,793
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G |
Cnga3 |
cyclic nucleotide gated channel subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod degeneration |
ClinVar |
PMID:11536077 PMID:24033266 PMID:30289319 |
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NCBI chrNW_004936744:1,499,431...1,537,784
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G |
Cngb3 |
cyclic nucleotide gated channel subunit beta 3 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:1347967 PMID:10888875 PMID:10958649 PMID:11124331 PMID:12815043 PMID:14757870 PMID:15657609 PMID:15712225 PMID:16379026 PMID:17265047 PMID:23805033 PMID:24033266 PMID:25741868 PMID:25770143 PMID:28041643 PMID:28492532 PMID:28795510 PMID:30718709 PMID:32860008 |
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NCBI chrNW_004936544:1,166,896...1,305,339
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|
G |
Crb1 |
crumbs cell polarity complex component 1 |
|
ISO |
DNA:missense mutation:cds:p.C27F(c.80G¿¿¿>¿¿¿T)(human) ClinVar Annotator: match by term: Cone-rod dystrophy |
RGD ClinVar |
PMID:23767994 PMID:25741868 |
RGD:13451130 |
NCBI chrNW_004936567:6,347,661...6,559,731
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|
G |
CUNH12orf29 |
chromosome unknown C12orf29 homolog |
|
ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30193310 |
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NCBI chrNW_004936507:5,210,561...5,223,320
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|
G |
CUNH8orf37 |
chromosome unknown C8orf37 homolog |
|
ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive |
ClinVar |
|
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NCBI chrNW_004936544:8,170,841...8,192,896
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|
G |
Fam161a |
FAM161 centrosomal protein A |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:20705278 PMID:25097241 PMID:25525159 PMID:25741868 PMID:25999674 PMID:26113502 PMID:26574802 PMID:28492532 PMID:30718709 |
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NCBI chrNW_004936491:7,202,877...7,221,493
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G |
Guca1a |
guanylate cyclase activator 1A |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936476:17,690,484...17,701,288
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|
G |
Gucy2d |
guanylate cyclase 2D, retinal |
|
ISO |
ClinVar Annotator: match by term: Cone-rod degeneration ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936595:1,235,747...1,250,294
|
|
G |
Itga4 |
integrin subunit alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod retinal dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936509:10,215,283...10,293,653
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G |
Lrat |
lecithin retinol acyltransferase |
|
ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936576:1,491,480...1,498,568
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G |
Nmnat1 |
nicotinamide nucleotide adenylyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936623:3,862,234...3,891,849
|
|
G |
Nr2e3 |
nuclear receptor subfamily 2 group E member 3 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:10655056 PMID:15453866 PMID:15459973 PMID:18294254 PMID:19273793 PMID:19718767 PMID:21217109 PMID:23039133 PMID:23591405 PMID:23989059 PMID:24474277 PMID:25079116 PMID:25097241 PMID:25703721 PMID:25741868 PMID:28041643 PMID:28492532 PMID:30718709 |
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NCBI chrNW_004936471:31,229,322...31,236,093
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G |
Pank2 |
pantothenate kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
|
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NCBI chrNW_004936485:14,785,050...14,804,258
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G |
Pde6b |
phosphodiesterase 6B |
|
ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 PMID:30718709 |
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NCBI chrNW_004936477:22,418,037...22,472,251
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|
G |
Pde6c |
phosphodiesterase 6C |
|
ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive |
ClinVar |
|
|
NCBI chrNW_004936601:1,343,538...1,393,605
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|
G |
Pex7 |
peroxisomal biogenesis factor 7 |
|
ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:9090383 PMID:11781871 PMID:12325024 PMID:23572185 PMID:25741868 PMID:26408048 PMID:28492532 |
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NCBI chrNW_004936560:4,237,691...4,302,655
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|
G |
Pitpnm3 |
PITPNM family member 3 |
|
ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936677:1,451,974...1,528,864
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|
G |
Poc1b |
POC1 centriolar protein B |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936507:6,375,009...6,457,034
|
|
G |
Prom1 |
prominin 1 |
|
ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar Annotator: match by term: Cone-rod retinal dystrophy |
ClinVar |
PMID:10205271 PMID:17605048 PMID:19718270 PMID:23757202 PMID:24154662 PMID:24474277 PMID:25741868 PMID:25999674 PMID:26103963 PMID:26261540 PMID:26702251 PMID:27874104 PMID:28041643 PMID:28492532 |
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NCBI chrNW_004936477:11,878,261...12,017,228
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|
G |
Prph2 |
peripherin 2 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar Annotator: match by term: Cone Rod Dystrophy |
ClinVar |
PMID:7493155 PMID:8015786 PMID:8302543 PMID:8485576 PMID:8675410 PMID:8747448 PMID:8994365 PMID:9010868 PMID:9331261 PMID:9443872 PMID:11139241 PMID:14510799 PMID:14557183 PMID:15370544 PMID:15779916 PMID:16113362 PMID:16799052 PMID:18310263 PMID:20213611 PMID:22183351 PMID:22466463 PMID:24463884 PMID:24629188 PMID:25001182 PMID:25082885 PMID:25097241 PMID:25474345 PMID:25675413 PMID:25741868 PMID:26161267 PMID:26842753 PMID:28492532 PMID:30718709 |
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NCBI chrNW_004936476:17,159,756...17,174,226
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|
G |
Rab28 |
RAB28, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Cone-rod degeneration |
ClinVar |
PMID:23746546 |
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NCBI chrNW_004936477:14,066,063...14,140,310
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|
G |
Rax2 |
retina and anterior neural fold homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
|
|
NCBI chrNW_004936588:2,133,398...2,135,329
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|
G |
Rdh12 |
retinol dehydrogenase 12 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod degeneration |
ClinVar |
PMID:15258582 PMID:16269441 PMID:20006610 PMID:22065924 PMID:24474277 PMID:25741868 PMID:27032803 PMID:28492532 PMID:32014858 |
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NCBI chrNW_004936495:11,111,247...11,121,976
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|
G |
Rho |
rhodopsin |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:7981701 PMID:8088850 PMID:9380676 PMID:11139241 PMID:12871954 PMID:17488458 PMID:19913029 PMID:21094163 PMID:21219898 PMID:25741868 PMID:28492532 PMID:29847639 PMID:30240733 PMID:30718709 |
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NCBI chrNW_004936602:896,730...901,480
|
|
G |
Rims1 |
regulating synaptic membrane exocytosis 1 |
|
ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936618:3,678,400...4,047,994
|
|
G |
Rpe65 |
retinoid isomerohydrolase RPE65 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
|
|
NCBI chrNW_004936591:3,347,346...3,368,062
|
|
G |
Rpgr |
retinitis pigmentosa GTPase regulator |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:30718709 |
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NCBI chrNW_004936502:5,163,164...5,212,940
|
|
G |
Rpgrip1 |
RPGR interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar Annotator: match by term: Cone-rod degeneration ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936880:440,900...511,503
|
|
G |
Scaper |
S-phase cyclin A associated protein in the ER |
|
ISO |
ClinVar Annotator: match by term: Rod-cone dystrophy |
ClinVar |
PMID:28794130 |
|
NCBI chrNW_004936471:35,414,507...35,834,438
|
|
G |
Sema4a |
semaphorin 4A |
|
ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive |
ClinVar |
|
|
NCBI chrNW_004936580:5,404,380...5,431,183
|
|
G |
Trpm6 |
transient receptor potential cation channel subfamily M member 6 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod retinal dystrophy |
ClinVar |
PMID:28041643 PMID:32581362 |
|
NCBI chrNW_004936503:10,508,989...10,637,424
|
|
G |
Ttll5 |
tubulin tyrosine ligase like 5 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936488:4,723,314...4,983,926
|
|
G |
Unc119 |
unc-119 lipid binding chaperone |
|
ISO |
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant ClinVar Annotator: match by term: Cone-rod dystrophy |
ClinVar |
PMID:11006213 PMID:22184408 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936538:4,772,236...4,778,149
|
|
G |
Ush2a |
usherin |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive |
ClinVar |
PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 PMID:12112664 PMID:14970843 PMID:15015129 PMID:15025721 PMID:15043528 PMID:15241801 PMID:15325563 PMID:15326663 PMID:16963483 PMID:17405132 PMID:18273898 PMID:18641288 PMID:18665195 PMID:19881469 PMID:20145675 PMID:20301515 PMID:20513143 PMID:21569298 PMID:22135276 PMID:22581970 PMID:24033266 PMID:24088041 PMID:24160897 PMID:24498627 PMID:24607488 PMID:24944099 PMID:25097241 PMID:25404053 PMID:25575603 PMID:25649381 PMID:25741868 PMID:25991456 PMID:26338283 PMID:26633545 PMID:26872967 PMID:26927203 PMID:27208204 PMID:27460420 PMID:27957503 PMID:28041643 PMID:28492532 PMID:28512305 PMID:29953849 PMID:30718709 |
|
NCBI chrNW_004936628:2,123,917...2,859,958
|
|
|
G |
Sema4a |
semaphorin 4A |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936580:5,404,380...5,431,183
|
|
|
G |
Rax2 |
retina and anterior neural fold homeobox 2 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936588:2,133,398...2,135,329
|
|
|
G |
Prom1 |
prominin 1 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936477:11,878,261...12,017,228
|
|
|
G |
Rpgrip1 |
RPGR interacting protein 1 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936880:440,900...511,503
|
|
|
G |
Cacna2d4 |
calcium voltage-gated channel auxiliary subunit alpha2delta 4 |
|
ISO |
ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 14 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30718709 |
|
NCBI chrNW_004936606:2,011,454...2,118,255
|
|
G |
Guca1a |
guanylate cyclase activator 1A |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936476:17,690,484...17,701,288
|
|
G |
Guca1b |
guanylate cyclase activator 1B |
|
ISO |
ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 14 ClinVar Annotator: match by term: Cone dystrophy 3 |
ClinVar |
PMID:15505030 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936476:17,679,505...17,688,970
|
|
G |
Kcnv2 |
potassium voltage-gated channel modifier subfamily V member 2 |
|
ISO |
ClinVar Annotator: match by term: Cone dystrophy 3 |
ClinVar |
PMID:23885164 PMID:25741868 |
|
NCBI chrNW_004936503:2,320,570...2,332,833
|
|
G |
Pde6h |
phosphodiesterase 6H |
|
ISO |
ClinVar Annotator: match by term: Cone dystrophy 3 |
ClinVar |
|
|
NCBI chrNW_004936587:2,505,755...2,514,103
|
|
G |
Rho |
rhodopsin |
|
ISO |
ClinVar Annotator: match by term: Cone dystrophy 3 |
ClinVar |
PMID:17936999 PMID:23484092 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936602:896,730...901,480
|
|
|
G |
Cdhr1 |
cadherin related family member 1 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936767:805,910...829,838
|
|
|
G |
CUNH8orf37 |
chromosome unknown C8orf37 homolog |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936544:8,170,841...8,192,896
|
|
|
G |
Rab28 |
RAB28, member RAS oncogene family |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936477:14,066,063...14,140,310
|
|
|
G |
Ttll5 |
tubulin tyrosine ligase like 5 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936488:4,723,314...4,983,926
|
|
|
G |
Aipl1 |
aryl hydrocarbon receptor interacting protein like 1 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 2 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936677:1,539,502...1,548,343
|
|
G |
Prom1 |
prominin 1 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 2 ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 |
ClinVar |
PMID:10205271 PMID:19718270 PMID:24154662 PMID:25741868 PMID:25999674 PMID:26103963 PMID:26153215 PMID:26261540 PMID:27874104 PMID:28041643 PMID:28492532 |
|
NCBI chrNW_004936477:11,878,261...12,017,228
|
|
|
G |
Poc1b |
POC1 centriolar protein B |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936507:6,375,009...6,457,034
|
|
|
G |
Dram2 |
DNA damage regulated autophagy modulator 2 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936704:2,488,370...2,513,042
|
|
|
G |
Pimreg |
PICALM interacting mitotic regulator |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 5 |
ClinVar |
|
|
NCBI chrNW_004936677:1,531,220...1,534,208
|
|
G |
Pitpnm3 |
PITPNM family member 3 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936677:1,451,974...1,528,864
|
|
|
G |
Best1 |
bestrophin 1 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 6 |
ClinVar |
|
|
NCBI chrNW_004936581:1,120,681...1,132,226
|
|
G |
Gucy2d |
guanylate cyclase 2D, retinal |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936595:1,235,747...1,250,294
|
|
G |
Kcnv2 |
potassium voltage-gated channel modifier subfamily V member 2 |
|
ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 6 |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936503:2,320,570...2,332,833
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G |
Rims1 |
regulating synaptic membrane exocytosis 1 |
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ISO |
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OMIM |
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NCBI chrNW_004936618:3,678,400...4,047,994
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G |
Adam9 |
ADAM metallopeptidase domain 9 |
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ISO |
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OMIM |
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NCBI chrNW_004936710:2,301,470...2,388,533
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G |
Tm2d2 |
TM2 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Cone-rod dystrophy 9 |
ClinVar |
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NCBI chrNW_004936710:2,298,233...2,301,239
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G |
Cep250 |
centrosomal protein 250 |
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ISO |
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OMIM |
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NCBI chrNW_004936561:5,283,258...5,331,688
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G |
Rims2 |
regulating synaptic membrane exocytosis 2 |
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ISO |
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OMIM |
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NCBI chrNW_004936470:39,725,092...40,270,268
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G |
Cdh3 |
cadherin 3 |
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ISO |
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OMIM |
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NCBI chrNW_004936475:18,908,031...18,954,402
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G |
Vps13b |
vacuolar protein sorting 13 homolog B |
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ISO |
ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness |
ClinVar |
PMID:15141358 PMID:16648375 PMID:17990063 PMID:18414213 PMID:19006247 PMID:20683995 PMID:20921020 PMID:23352163 PMID:23757202 PMID:24033266 PMID:25502226 PMID:25741868 PMID:26133662 PMID:26395554 PMID:26443248 PMID:26467025 PMID:27175599 PMID:27353947 PMID:27829003 PMID:28041643 PMID:28492532 |
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NCBI chrNW_004936470:43,281,905...43,952,523
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G |
Efemp1 |
EGF containing fibulin extracellular matrix protein 1 |
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ISO |
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OMIM |
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NCBI chrNW_004936491:2,159,654...2,214,480
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G |
Prph2 |
peripherin 2 |
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ISO |
ClinVar Annotator: match by term: Doyne honeycomb degeneration of retina |
ClinVar |
PMID:11139241 PMID:25675413 PMID:25741868 PMID:26842753 PMID:28492532 |
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NCBI chrNW_004936476:17,159,756...17,174,226
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G |
Cdh3 |
cadherin 3 |
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ISO |
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OMIM |
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NCBI chrNW_004936475:18,908,031...18,954,402
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G |
Nr2e3 |
nuclear receptor subfamily 2 group E member 3 |
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ISO |
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OMIM |
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NCBI chrNW_004936471:31,229,322...31,236,093
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G |
Nrl |
neural retina leucine zipper |
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ISO |
ClinVar Annotator: match by term: Enhanced s-cone syndrome |
ClinVar |
PMID:27732723 |
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NCBI chrNW_004936722:448,006...454,064
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G |
Prph2 |
peripherin 2 |
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ISO |
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RGD |
PMID:23650562 |
RGD:8554862 |
NCBI chrNW_004936476:17,159,756...17,174,226
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G |
Prph2 |
peripherin 2 |
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ISO |
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OMIM |
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NCBI chrNW_004936476:17,159,756...17,174,226
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G |
Rdh5 |
retinol dehydrogenase 5 |
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ISO |
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OMIM |
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NCBI chrNW_004936646:191,136...195,279
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G |
Rho |
rhodopsin |
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ISO |
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OMIM |
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NCBI chrNW_004936602:896,730...901,480
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G |
Rlbp1 |
retinaldehyde binding protein 1 |
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ISO |
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OMIM |
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NCBI chrNW_004936483:15,086,485...15,097,980
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G |
Abhd12 |
abhydrolase domain containing 12, lysophospholipase |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:22938382 PMID:28041643 |
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NCBI chrNW_004936620:451,216...531,353
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G |
Aco2 |
aconitase 2 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936492:407,482...452,538
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G |
Adgra3 |
adhesion G protein-coupled receptor A3 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
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NCBI chrNW_004936477:6,531,506...6,637,628
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G |
Adgrv1 |
adhesion G protein-coupled receptor V1 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:19357117 PMID:22135276 PMID:22147658 PMID:24033266 PMID:24154662 PMID:25133751 PMID:25404053 PMID:25412400 PMID:25741868 PMID:26467025 PMID:26969326 PMID:27068579 PMID:28041643 PMID:28492532 |
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NCBI chrNW_004936469:8,653,031...9,209,840
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G |
Agbl5 |
ATP/GTP binding protein like 5 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936493:5,470,623...5,488,542
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G |
Ahi1 |
Abelson helper integration site 1 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:15322546 PMID:16155189 PMID:16453322 PMID:18054307 PMID:21068128 PMID:21937992 PMID:25525159 PMID:25616960 PMID:25741868 PMID:26092869 PMID:28041643 PMID:28492532 |
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NCBI chrNW_004936560:2,881,631...3,057,256
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G |
Aipl1 |
aryl hydrocarbon receptor interacting protein like 1 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:10615133 PMID:10873396 PMID:15249368 PMID:15347646 PMID:21474771 PMID:22412862 PMID:23737531 PMID:25596619 PMID:25741868 PMID:25799540 PMID:27268253 PMID:28041643 PMID:28492532 PMID:30718709 |
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NCBI chrNW_004936677:1,539,502...1,548,343
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G |
Alms1 |
ALMS1 centrosome and basal body associated protein |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11941369 PMID:11941370 PMID:16720663 PMID:17594715 PMID:21157496 PMID:21897446 PMID:22555271 PMID:23847139 PMID:24595103 PMID:25706677 PMID:25741868 PMID:25846608 PMID:28041643 PMID:28492532 |
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NCBI chrNW_004936491:17,152,759...17,342,648
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G |
Arl2bp |
ADP ribosylation factor like GTPase 2 binding protein |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28041643 |
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NCBI chrNW_004936475:9,343,333...9,352,089
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G |
Bbs1 |
Bardet-Biedl syndrome 1 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:12920096 PMID:15314642 PMID:15770229 PMID:17980398 PMID:18032602 PMID:18669544 PMID:18766993 PMID:20120035 PMID:20177705 PMID:20472660 PMID:20498079 PMID:21052717 PMID:21344540 PMID:21520335 PMID:21642631 PMID:22581970 PMID:22773737 PMID:22940089 PMID:23143442 PMID:23565731 PMID:23847139 PMID:23943788 PMID:24033266 PMID:25326635 PMID:25741868 PMID:25780760 PMID:26261414 PMID:26467025 PMID:26872967 PMID:27032803 PMID:27659767 PMID:28041643 PMID:28492532 PMID:29264490 PMID:30614526 PMID:30718709 |
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NCBI chrNW_004936599:3,059,274...3,076,853
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G |
Bbs10 |
Bardet-Biedl syndrome 10 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:16582908 PMID:20080638 PMID:20120035 PMID:20177705 PMID:20472660 PMID:20498079 PMID:20805367 PMID:20876674 PMID:21044901 PMID:21157496 PMID:21209035 PMID:21517826 PMID:21642631 PMID:22410627 PMID:22773737 PMID:24033266 PMID:24400638 PMID:24746959 PMID:25741868 PMID:25982971 PMID:26003401 PMID:26467025 PMID:27385962 PMID:27486776 PMID:27659767 PMID:27788217 PMID:28041643 PMID:28143435 PMID:28492532 PMID:28808579 PMID:30614526 PMID:30718709 |
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NCBI chrNW_004936568:4,640,611...4,644,627
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G |
Bbs12 |
Bardet-Biedl syndrome 12 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:17160889 PMID:20080638 PMID:20120035 PMID:20472660 PMID:20498079 PMID:20827784 PMID:21209035 PMID:21642631 PMID:22410627 PMID:24611592 PMID:25741868 PMID:25982971 PMID:27659767 PMID:28492532 PMID:30614526 PMID:30718709 |
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NCBI chrNW_004936662:1,822,727...1,832,403
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G |
Bbs2 |
Bardet-Biedl syndrome 2 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11285252 PMID:11567139 PMID:12837689 PMID:15666242 PMID:19402160 PMID:20120035 PMID:20177705 PMID:20498079 PMID:21052717 PMID:21344540 PMID:21642631 PMID:22401627 PMID:22410627 PMID:23829372 PMID:25133751 PMID:25412400 PMID:25541840 PMID:25741868 PMID:27353947 PMID:27659767 PMID:28492532 PMID:28559085 PMID:30718709 |
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NCBI chrNW_004936475:8,785,914...8,810,490
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G |
Bbs4 |
Bardet-Biedl syndrome 4 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11381270 PMID:27208204 PMID:28492532 |
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NCBI chrNW_004936471:31,962,500...32,019,516
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G |
Bbs5 |
Bardet-Biedl syndrome 5 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:15137946 PMID:21209035 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936509:25,263...45,113
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G |
Bbs7 |
Bardet-Biedl syndrome 7 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
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|
NCBI chrNW_004936662:1,081,237...1,116,719
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G |
Bbs9 |
Bardet-Biedl syndrome 9 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:20177705 PMID:28492532 |
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NCBI chrNW_004936478:8,959,198...9,408,683
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|
G |
Best1 |
bestrophin 1 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:2133066 PMID:9662395 PMID:9700209 PMID:10331951 PMID:10394929 PMID:10788642 PMID:10798642 PMID:10854112 PMID:11585313 PMID:11756879 PMID:11904445 PMID:12565808 PMID:13129869 PMID:13534955 PMID:14205432 PMID:15452077 PMID:16286623 PMID:16754206 PMID:16769844 PMID:17065513 PMID:17110374 PMID:18179881 PMID:18289629 PMID:18844018 PMID:18985398 PMID:19375515 PMID:19597114 PMID:19853238 PMID:20375334 PMID:20381869 PMID:20927214 PMID:21192766 PMID:21269699 PMID:21273940 PMID:21330666 PMID:21436265 PMID:21473666 PMID:21809908 PMID:21825197 PMID:21878505 PMID:23213274 PMID:23290749 PMID:23825107 PMID:23880862 PMID:24560797 PMID:25082885 PMID:25174897 PMID:25489231 PMID:25741868 PMID:26200502 PMID:26201355 PMID:26333019 PMID:26720466 PMID:27078032 PMID:27519691 PMID:28041643 PMID:28225368 PMID:28492532 PMID:28559085 PMID:28687848 PMID:29115605 PMID:29555955 PMID:29668979 PMID:29781975 PMID:29976937 PMID:30593719 PMID:30718709 |
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NCBI chrNW_004936581:1,120,681...1,132,226
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G |
C1qtnf5 |
C1q and TNF related 5 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:12140190 PMID:12944416 PMID:15976030 PMID:20361016 PMID:22142163 PMID:23289492 PMID:24531000 PMID:25097241 PMID:25326637 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29847639 |
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NCBI chrNW_004936542:4,269,636...4,271,497
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G |
Ca4 |
carbonic anhydrase 4 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:30718709 |
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NCBI chrNW_004936490:1,764,845...1,773,752
|
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G |
Cabp4 |
calcium binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:28041643 PMID:28492532 PMID:30718709 |
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NCBI chrNW_004936599:2,295,124...2,299,558
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|
G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9662399 PMID:12552565 PMID:19578023 PMID:25307992 PMID:26992781 PMID:28002560 PMID:28041643 PMID:28492532 PMID:30718709 |
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NCBI chrNW_004936721:1,078,570...1,106,153
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|
G |
Cacna2d4 |
calcium voltage-gated channel auxiliary subunit alpha2delta 4 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936606:2,011,454...2,118,255
|
|
G |
Capn5 |
calpain 5 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
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|
NCBI chrNW_004936498:5,692,910...5,747,329
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|
G |
Cc2d2a |
coiled-coil and C2 domain containing 2A |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936477:12,315,829...12,415,915
|
|
G |
Cdh23 |
cadherin related 23 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11138009 PMID:12075507 PMID:18273900 PMID:18429043 PMID:21940737 PMID:24033266 PMID:25468891 PMID:25472526 PMID:25741868 PMID:27208204 PMID:28492532 PMID:30718709 |
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NCBI chrNW_004936521:7,078,874...7,285,361
|
|
G |
Cdh3 |
cadherin 3 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
|
|
NCBI chrNW_004936475:18,908,031...18,954,402
|
|
G |
Cdhr1 |
cadherin related family member 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:20087419 PMID:23044944 PMID:23233793 PMID:23591405 PMID:24033266 PMID:25741868 PMID:26103963 PMID:26261414 PMID:26350383 PMID:26766544 PMID:27353947 PMID:27623334 PMID:28041643 PMID:28224992 PMID:28418496 PMID:28492532 PMID:28765526 PMID:28885867 PMID:30718709 |
|
NCBI chrNW_004936767:805,910...829,838
|
|
G |
Cdkl5 |
cyclin dependent kinase like 5 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:618178 PMID:9326935 PMID:9618178 PMID:9760195 PMID:10220153 PMID:10234514 PMID:10533068 PMID:10589241 PMID:10636421 PMID:10636740 PMID:10922205 PMID:10947001 PMID:12417531 PMID:12920343 PMID:12928282 PMID:15932525 PMID:15937075 PMID:16167295 PMID:16361673 PMID:17296904 PMID:17304551 PMID:17515881 PMID:17615541 PMID:17987333 PMID:18369700 PMID:18541843 PMID:18834580 PMID:19093009 PMID:19390641 PMID:20061330 PMID:20809529 PMID:21701876 PMID:22110067 PMID:22332228 PMID:23288992 PMID:23453514 PMID:23514609 PMID:23568735 PMID:23847049 PMID:24634885 PMID:25525159 PMID:25741868 PMID:26356828 PMID:26872967 PMID:27032803 PMID:28272453 PMID:28348004 PMID:28492532 PMID:28559085 PMID:29851975 PMID:29902095 PMID:30551202 PMID:30652005 PMID:30923717 |
|
NCBI chrNW_004936844:101,815...271,254
|
|
G |
Cep164 |
centrosomal protein 164 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936542:2,544,677...2,609,753
|
|
G |
Cep250 |
centrosomal protein 250 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:28005958 PMID:28492532 |
|
NCBI chrNW_004936561:5,283,258...5,331,688
|
|
G |
Cep290 |
centrosomal protein 290 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19764032 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21245082 PMID:22355252 PMID:22693042 PMID:22699515 PMID:23188109 PMID:23344081 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24265693 PMID:25097241 PMID:25377065 PMID:25445212 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26092869 PMID:26673778 PMID:27032803 PMID:27353947 PMID:27491411 PMID:28041643 PMID:28492532 PMID:28497568 PMID:28510626 PMID:28559085 PMID:28660274 PMID:28829391 PMID:28973549 PMID:29178642 PMID:29398085 PMID:30718709 |
|
NCBI chrNW_004936507:5,223,756...5,305,392
|
|
G |
Cerkl |
ceramide kinase like |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:14681825 PMID:18978954 PMID:20554613 PMID:21151602 PMID:22164218 PMID:23661369 PMID:24043777 PMID:24498393 PMID:24625443 PMID:25097241 PMID:25356976 PMID:25741868 PMID:25999674 PMID:27208204 PMID:28041643 PMID:28130426 PMID:28492532 PMID:28559085 PMID:28838317 PMID:29068140 PMID:30718709 PMID:221642182 |
|
NCBI chrNW_004936509:10,294,247...10,404,743
|
|
G |
Cfap410 |
cilia and flagella associated protein 410 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:26167768 PMID:26974433 PMID:27548899 PMID:27596865 PMID:28041643 PMID:28422394 PMID:28492532 |
|
NCBI chrNW_004936500:82,702...90,525
|
|
G |
Chm |
CHM Rab escort protein |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9067750 PMID:10447648 PMID:11139690 PMID:12203991 PMID:12827496 PMID:16936131 PMID:19427510 PMID:21905166 PMID:25741868 PMID:26133251 PMID:27247961 PMID:28041643 PMID:28098911 PMID:28492532 PMID:28752371 PMID:30541579 |
|
NCBI chrNW_004936547:6,368,941...6,533,199
|
|
G |
Cln3 |
CLN3 lysosomal/endosomal transmembrane protein, battenin |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9311735 PMID:9450775 PMID:18414213 PMID:21990111 PMID:24154662 PMID:25741868 PMID:26766544 PMID:28041643 PMID:28492532 PMID:28559085 |
|
NCBI chrNW_004936501:11,955,334...11,967,338
|
|
G |
Clrn1 |
clarin 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:12080385 PMID:12145752 PMID:14569126 PMID:15521980 PMID:16028794 PMID:17893653 PMID:18281613 PMID:19423712 PMID:19753315 PMID:21310491 PMID:22787034 PMID:22952768 PMID:23304067 PMID:24033266 PMID:25741868 PMID:26180195 PMID:26338283 PMID:28041643 PMID:28492532 |
|
NCBI chrNW_004936758:1,250,831...1,286,016
|
|
G |
Cnga1 |
cyclic nucleotide gated channel subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:7479749 PMID:23462753 PMID:24033266 PMID:24154662 PMID:24265693 PMID:25326637 PMID:25611614 PMID:25741868 PMID:26306921 PMID:26496393 PMID:28041643 PMID:28492532 PMID:28981474 PMID:30337596 PMID:30718709 |
|
NCBI chrNW_004936482:14,091,343...14,107,793
|
|
G |
Cnga3 |
cyclic nucleotide gated channel subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9662398 PMID:11536077 PMID:14757870 PMID:15712225 PMID:15743887 PMID:15980212 PMID:16961972 PMID:17265047 PMID:17693388 PMID:18445228 PMID:18521937 PMID:20238023 PMID:21268679 PMID:21778272 PMID:23972307 PMID:24033266 PMID:24148654 PMID:24504161 PMID:24676353 PMID:24903488 PMID:24906859 PMID:25168900 PMID:25283059 PMID:25616768 PMID:25637600 PMID:25741868 PMID:25943428 PMID:26407004 PMID:26493561 PMID:26992781 PMID:27820752 PMID:28041643 PMID:28159970 PMID:28341476 PMID:28492532 PMID:28559085 PMID:29099798 PMID:30289319 PMID:30337596 PMID:30682209 |
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NCBI chrNW_004936744:1,499,431...1,537,784
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G |
Cngb1 |
cyclic nucleotide gated channel subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:15557452 PMID:21147909 PMID:21987686 PMID:23105016 PMID:24043777 PMID:25741868 PMID:25943428 PMID:25999674 PMID:26355662 PMID:26667666 PMID:26894784 PMID:28041643 PMID:28056120 PMID:28492532 PMID:28559085 PMID:29202463 PMID:29912909 PMID:30718709 |
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NCBI chrNW_004936475:9,844,438...9,908,009
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G |
Cngb3 |
cyclic nucleotide gated channel subunit beta 3 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:1347967 PMID:10888875 PMID:10958649 PMID:11124331 PMID:12815043 PMID:14757870 PMID:15459792 PMID:15657609 PMID:15712225 PMID:16319819 PMID:16379026 PMID:17265047 PMID:17652762 PMID:19592100 PMID:20079539 PMID:20574029 PMID:23805033 PMID:24033266 PMID:24148654 PMID:25205868 PMID:25558176 PMID:25741868 PMID:25770143 PMID:27479814 PMID:27874104 PMID:28041643 PMID:28492532 PMID:28795510 PMID:29186038 PMID:29769798 PMID:30718709 PMID:32860008 |
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NCBI chrNW_004936544:1,166,896...1,305,339
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G |
Cnnm4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
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NCBI chrNW_004936744:715,523...754,148
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G |
Col11a2 |
collagen type XI alpha 2 chain |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
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NCBI chrNW_004936476:25,663,563...25,692,315
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G |
Col18a1 |
collagen type XVIII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:19390655 PMID:21862674 PMID:23667181 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29977801 |
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NCBI chrNW_004936778:847,473...943,038
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G |
Col2a1 |
collagen type II alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11007540 PMID:20179744 PMID:22496037 PMID:22522174 PMID:25741868 PMID:26747767 PMID:27390512 PMID:28492532 PMID:29453956 PMID:30181686 |
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NCBI chrNW_004936512:5,861,933...5,894,898
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G |
Crb1 |
crumbs cell polarity complex component 1 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:1427914 PMID:10508521 PMID:11231775 PMID:11389483 PMID:12700176 PMID:15024725 PMID:15459956 PMID:16543197 PMID:17128490 PMID:17297678 PMID:17724218 PMID:17964524 PMID:18055816 PMID:18055820 PMID:18682808 PMID:19140180 PMID:19401883 PMID:20079931 PMID:20301475 PMID:20591486 PMID:20683928 PMID:20956273 PMID:21757580 PMID:22065545 PMID:22968130 PMID:23105016 PMID:23362850 PMID:23379534 PMID:23449718 PMID:23462753 PMID:23591405 PMID:24033266 PMID:24265693 PMID:24512366 PMID:24715753 PMID:25133751 PMID:25323024 PMID:25474345 PMID:25741868 PMID:26047050 PMID:26147992 PMID:26667666 PMID:26914788 PMID:27096895 PMID:27113771 PMID:27157150 PMID:27208204 PMID:27258436 PMID:27380427 PMID:27628848 PMID:28041643 PMID:28129017 PMID:28181551 PMID:28341475 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28819299 PMID:29068479 PMID:29178642 PMID:29200130 PMID:29391521 PMID:30576320 PMID:30718709 |
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NCBI chrNW_004936567:6,347,661...6,559,731
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G |
Ctnna1 |
catenin alpha 1 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:28041643 PMID:28492532 |
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NCBI chrNW_004936531:7,865,907...8,036,020
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G |
CUNH10orf105 |
chromosome unknown C10orf105 homolog |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:24033266 PMID:28492532 |
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NCBI chrNW_004936521:7,095,044...7,095,497
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G |
CUNH12orf29 |
chromosome unknown C12orf29 homolog |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936507:5,210,561...5,223,320
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G |
CUNH8orf37 |
chromosome unknown C8orf37 homolog |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
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NCBI chrNW_004936544:8,170,841...8,192,896
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G |
Cwc27 |
CWC27 spliceosome associated cyclophilin |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936480:4,090,005...4,305,770
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G |
Cygb |
cytoglobin |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:20507925 PMID:25741868 |
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NCBI chrNW_004936594:1,602,436...1,613,783
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G |
Dram2 |
DNA damage regulated autophagy modulator 2 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25983245 PMID:28492532 |
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NCBI chrNW_004936704:2,488,370...2,513,042
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G |
Dthd1 |
death domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
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NCBI chrNW_004936482:4,603,473...4,661,598
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G |
Efemp1 |
EGF containing fibulin extracellular matrix protein 1 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:10369267 PMID:11384588 PMID:11389162 PMID:12242346 PMID:17666404 PMID:22031286 PMID:25077532 PMID:28492532 PMID:30541486 |
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NCBI chrNW_004936491:2,159,654...2,214,480
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G |
Elovl4 |
ELOVL fatty acid elongase 4 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11138005 PMID:15028284 PMID:23509295 PMID:24833735 PMID:28492532 |
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NCBI chrNW_004936510:10,246,901...10,276,049
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G |
Eys |
eyes shut homolog |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:18836446 PMID:18976725 PMID:20237254 PMID:20333770 PMID:20537394 PMID:21069908 PMID:21217109 PMID:21519034 PMID:22164218 PMID:22302105 PMID:22363543 PMID:23105016 PMID:23591405 PMID:23757202 PMID:24033266 PMID:24265693 PMID:24474277 PMID:24618324 PMID:24652164 PMID:24670872 PMID:24938718 PMID:25097241 PMID:25268133 PMID:25324289 PMID:25356976 PMID:25366773 PMID:25412400 PMID:25491159 PMID:25692139 PMID:25741868 PMID:25753737 PMID:26103963 PMID:26161267 PMID:26261414 PMID:26667666 PMID:26806561 PMID:26872967 PMID:27208204 PMID:27375351 PMID:27658286 PMID:28041643 PMID:28492532 PMID:28704921 PMID:29159838 PMID:29550188 PMID:29625443 PMID:29785639 PMID:30153090 PMID:30718709 PMID:31054281 PMID:31872526 |
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NCBI chrNW_004936476:158,391...1,289,639
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G |
Fam161a |
FAM161 centrosomal protein A |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:10507729 PMID:20705278 PMID:20705279 PMID:23591405 PMID:24651477 PMID:25097241 PMID:25525159 PMID:25741868 PMID:25999674 PMID:26113502 PMID:26355662 PMID:26574802 PMID:27208204 PMID:28492532 PMID:30718709 |
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NCBI chrNW_004936491:7,202,877...7,221,493
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G |
Fbln5 |
fibulin 5 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
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NCBI chrNW_004936733:136,374...200,106
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G |
Flvcr1 |
FLVCR heme transporter 1 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:23591405 PMID:25741868 PMID:27353947 PMID:28492532 |
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NCBI chrNW_004936557:693,445...727,166
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G |
Frmd7 |
FERM domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
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NCBI chrNW_004936691:2,664,968...2,756,300
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G |
Fzd4 |
frizzled class receptor 4 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:14507768 PMID:15035989 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 |
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NCBI chrNW_004936498:14,657,641...14,666,853
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G |
Gatad1 |
GATA zinc finger domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004936803:1,348,238...1,361,566
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G |
Gigyf2 |
GRB10 interacting GYF protein 2 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
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NCBI chrNW_004936525:4,301,003...4,432,125
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G |
Gnat1 |
G protein subunit alpha transducin 1 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
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NCBI chrNW_004936529:1,735,258...1,740,297
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G |
Gnat2 |
G protein subunit alpha transducin 2 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
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NCBI chrNW_004936704:1,079,255...1,093,732
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G |
Gpr179 |
G protein-coupled receptor 179 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:22325361 PMID:22325362 PMID:24033266 PMID:28041643 |
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NCBI chrNW_004936490:13,801,514...13,818,666
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G |
Grm6 |
glutamate metabotropic receptor 6 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11874764 PMID:15781871 PMID:19862333 PMID:22735794 PMID:25741868 PMID:28492532 PMID:30718709 |
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NCBI chrNW_004936739:1,726,382...1,742,937
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G |
Guca1a |
guanylate cyclase activator 1A |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9425234 PMID:9651312 PMID:9702199 PMID:15735604 PMID:15790869 PMID:15953638 PMID:24352742 PMID:25741868 PMID:28041643 PMID:28492532 |
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NCBI chrNW_004936476:17,690,484...17,701,288
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G |
Gucy2d |
guanylate cyclase 2D, retinal |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:8554074 PMID:9618177 PMID:10676808 PMID:10766140 PMID:11115851 PMID:11565546 PMID:12552567 PMID:15175914 PMID:16505055 PMID:17724218 PMID:17964524 PMID:20050595 PMID:23035049 PMID:24875811 PMID:25477517 PMID:25741868 PMID:26047050 PMID:26253563 PMID:26298565 PMID:26626312 PMID:28041643 PMID:28492532 PMID:29061346 PMID:29559409 PMID:30718709 |
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NCBI chrNW_004936595:1,235,747...1,250,294
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G |
Hars1 |
histidyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936531:9,610,335...9,625,203
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G |
Hgsnat |
heparan-alpha-glucosaminide N-acetyltransferase |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:17033958 PMID:17397050 PMID:18024218 PMID:19479962 PMID:19823584 PMID:20583299 PMID:20825431 PMID:23301227 PMID:24767253 PMID:25491247 PMID:25741868 PMID:25859010 PMID:28041643 PMID:28492532 PMID:31228227 |
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NCBI chrNW_004936570:257,636...297,797
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G |
Hk1 |
hexokinase 1 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25190649 PMID:25316723 PMID:25741868 PMID:26427411 PMID:28492532 PMID:28765615 |
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NCBI chrNW_004936521:9,067,062...9,139,112
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G |
Ift140 |
intraflagellar transport 140 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 PMID:26216056 PMID:26766544 PMID:26968735 PMID:28492532 PMID:29688594 |
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NCBI chrNW_004936694:2,344,448...2,419,396
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G |
Ift172 |
intraflagellar transport 172 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 PMID:28559085 |
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NCBI chrNW_004936493:5,108,437...5,145,160
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G |
Impdh1 |
inosine monophosphate dehydrogenase 1 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936479:15,523,342...15,540,229
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G |
Impg1 |
interphotoreceptor matrix proteoglycan 1 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:23993198 PMID:28492532 PMID:30688845 |
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NCBI chrNW_004936788:1,258,547...1,401,910
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G |
Impg2 |
interphotoreceptor matrix proteoglycan 2 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:20673862 PMID:24876279 PMID:25472526 PMID:25741868 PMID:26667666 PMID:28041643 PMID:28492532 PMID:28771251 PMID:31264916 |
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NCBI chrNW_004936630:1,982,860...2,069,472
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G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:19668216 PMID:23386033 PMID:25741868 PMID:25818971 PMID:26092869 PMID:28492532 PMID:29230161 PMID:30202406 |
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NCBI chrNW_004936669:1,377,005...1,385,287
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G |
Iqcb1 |
IQ motif containing B1 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:15723066 PMID:18076122 PMID:20881296 PMID:21220633 PMID:21245082 PMID:21866095 PMID:23188109 PMID:23446637 PMID:23559409 PMID:23847139 PMID:24066033 PMID:24625443 PMID:25741868 PMID:25851290 PMID:26673778 PMID:28041643 PMID:28492532 PMID:28832562 PMID:29053603 |
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NCBI chrNW_004936536:8,164,120...8,213,690
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G |
Itga4 |
integrin subunit alpha 4 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
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NCBI chrNW_004936509:10,215,283...10,293,653
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G |
Jag1 |
jagged canonical Notch ligand 1 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
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NCBI chrNW_004936485:8,857,688...8,894,270
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G |
Kcnj13 |
potassium inwardly rectifying channel subfamily J member 13 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
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NCBI chrNW_004936525:4,361,755...4,374,130
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G |
Kcnv2 |
potassium voltage-gated channel modifier subfamily V member 2 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:17896311 PMID:18235024 PMID:18400204 PMID:21882291 PMID:21911584 PMID:23115240 PMID:23885164 PMID:25741868 PMID:28041643 PMID:28492532 |
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NCBI chrNW_004936503:2,320,570...2,332,833
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G |
Kiaa0586 |
KIAA0586 ortholog |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26026149 PMID:26096313 PMID:26386044 PMID:26386247 PMID:26437029 PMID:28125082 PMID:28492532 PMID:29068549 PMID:30120217 PMID:32581362 |
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NCBI chrNW_004936495:2,799,738...2,933,157
|
|
G |
Kif11 |
kinesin family member 11 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 PMID:30452590 |
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NCBI chrNW_004936601:2,163,316...2,213,674
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G |
Kiz |
kizuna centrosomal protein |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:24680887 PMID:28492532 PMID:28837078 PMID:29057815 PMID:31556760 PMID:32052671 |
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NCBI chrNW_004936620:4,188,350...4,310,708
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G |
Klhl7 |
kelch like family member 7 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:19520207 PMID:21828050 PMID:25741868 PMID:28041643 PMID:28492532 |
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NCBI chrNW_004936478:279,580...337,655
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G |
Lca5 |
lebercilin LCA5 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:17546029 PMID:19503738 PMID:21606596 PMID:23946133 PMID:25356970 PMID:25412400 PMID:28041643 PMID:28492532 |
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NCBI chrNW_004936510:10,652,378...10,702,761
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G |
LOC101965031 |
protocadherin-15 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:22815625 PMID:23451239 PMID:26791358 PMID:27208204 PMID:27743452 PMID:28492532 PMID:30459346 |
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NCBI chrNW_004936910:233,800...602,145
|
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G |
LOC101967774 |
cytochrome P450 4V2 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:15042513 PMID:15937078 PMID:22772592 PMID:24033266 PMID:25356976 PMID:25593508 PMID:25611614 PMID:25741868 PMID:26971461 PMID:28051075 PMID:28492532 PMID:28848678 |
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NCBI chrNW_004936554:3,272,139...3,293,288
|
|
G |
Lrat |
lecithin retinol acyltransferase |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
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|
NCBI chrNW_004936576:1,491,480...1,498,568
|
|
G |
Lrp2 |
LDL receptor related protein 2 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28041643 |
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NCBI chrNW_004936469:10,245,001...10,438,933
|
|
G |
Lrp5 |
LDL receptor related protein 5 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:16252235 PMID:27208204 PMID:28492532 PMID:30452590 |
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NCBI chrNW_004936599:1,746,309...1,814,471
|
|
G |
Mak |
male germ cell associated kinase |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936534:2,170,853...2,239,647
|
|
G |
Mertk |
MER proto-oncogene, tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11062461 PMID:11592982 PMID:11727200 PMID:15111602 PMID:17301963 PMID:19956407 PMID:24265693 PMID:24625443 PMID:25097241 PMID:25741868 PMID:26263531 PMID:26355662 PMID:28041643 PMID:28492532 PMID:28559085 PMID:29068140 PMID:29659094 PMID:30718709 |
|
NCBI chrNW_004936783:607,425...704,879
|
|
G |
Mfrp |
membrane frizzled-related protein |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:12140190 PMID:12944416 PMID:15976030 PMID:20361016 PMID:22142163 PMID:23289492 PMID:24531000 PMID:25097241 PMID:25326637 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29847639 |
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NCBI chrNW_004936542:4,272,250...4,277,231
|
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G |
Mfsd8 |
major facilitator superfamily domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25333361 PMID:28041643 PMID:28492532 PMID:28586915 |
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NCBI chrNW_004936642:2,745,889...2,833,286
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|
G |
Mkks |
McKusick-Kaufman syndrome |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:10802661 PMID:10973251 PMID:11567139 PMID:18094050 PMID:20177705 PMID:20498079 PMID:25741868 PMID:25982971 PMID:28492532 |
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NCBI chrNW_004936485:9,089,118...9,114,396
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G |
Mmachc |
metabolism of cobalamin associated C |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:16311595 PMID:19370762 PMID:24210589 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936474:26,636,277...26,641,486
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G |
Mvk |
mevalonate kinase |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:15457465 |
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NCBI chrNW_004936769:1,274,595...1,295,186
|
|
G |
Myo7a |
myosin VIIA |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:7568224 PMID:8900236 PMID:9002678 PMID:9259201 PMID:9382091 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10930322 PMID:12112664 PMID:15043528 PMID:15660226 PMID:15823922 PMID:16400615 PMID:16470552 PMID:16652077 PMID:16679490 PMID:16963483 PMID:17361009 PMID:18181211 PMID:18463160 PMID:18484607 PMID:18700726 PMID:19074810 PMID:19299023 PMID:19683999 PMID:20497194 PMID:20513143 PMID:21311020 PMID:21436283 PMID:21569298 PMID:21873662 PMID:22135276 PMID:23148716 PMID:23208854 PMID:23451239 PMID:23770805 PMID:24033266 PMID:24199935 PMID:24831256 PMID:25080338 PMID:25404053 PMID:25468891 PMID:25472526 PMID:25525159 PMID:25575603 PMID:25741868 PMID:25788563 PMID:26338283 PMID:26486028 PMID:26791358 PMID:26872967 PMID:26969326 PMID:27068579 PMID:27160483 PMID:27208204 PMID:27344577 PMID:27460420 PMID:27583663 PMID:27743452 PMID:27957503 PMID:28041643 PMID:28492532 PMID:28559085 PMID:28944237 PMID:30390570 PMID:30459346 PMID:31479088 |
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NCBI chrNW_004936498:5,758,572...5,824,526
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G |
Nmnat1 |
nicotinamide nucleotide adenylyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:22842227 PMID:22842229 PMID:22842230 PMID:22842231 PMID:23040504 PMID:24033266 PMID:24625443 PMID:24830548 PMID:24940029 PMID:25741868 PMID:26018082 PMID:26103963 PMID:26316326 PMID:27032803 PMID:28041643 PMID:28492532 PMID:32581362 |
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NCBI chrNW_004936623:3,862,234...3,891,849
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G |
Nphp4 |
nephrocystin 4 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:15776426 PMID:21068128 PMID:21546380 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936623:802,152...904,198
|
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G |
Nr2e3 |
nuclear receptor subfamily 2 group E member 3 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:10655056 PMID:11071390 PMID:11773633 PMID:12963616 PMID:15453866 PMID:15459973 PMID:15689355 PMID:16024868 PMID:16225923 PMID:17438525 PMID:17564971 PMID:17982421 PMID:18294254 PMID:18436841 PMID:18835469 PMID:19006237 PMID:19139342 PMID:19273793 PMID:19718767 PMID:19823680 PMID:19898638 PMID:21217109 PMID:21364904 PMID:22711506 PMID:23039133 PMID:23374571 PMID:23591405 PMID:23989059 PMID:24033266 PMID:24069298 PMID:24339724 PMID:24474277 PMID:25079116 PMID:25097241 PMID:25326637 PMID:25356976 PMID:25703721 PMID:25741868 PMID:25999674 PMID:26229699 PMID:26355662 PMID:26894784 PMID:26910043 PMID:27013732 PMID:27032803 PMID:27522502 PMID:27874104 PMID:28041643 PMID:28300834 PMID:28418496 PMID:28492532 PMID:28944237 PMID:30054919 PMID:30324420 PMID:30718709 |
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NCBI chrNW_004936471:31,229,322...31,236,093
|
|
G |
Nrl |
neural retina leucine zipper |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11385710 PMID:17335001 PMID:21981118 PMID:22334370 PMID:28492532 PMID:29385733 |
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NCBI chrNW_004936722:448,006...454,064
|
|
G |
Nyx |
nyctalopin |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11062471 PMID:19578023 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936502:7,890,582...7,909,157
|
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G |
Oat |
ornithine aminotransferase |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:1609808 PMID:1737786 PMID:3339136 PMID:22674428 PMID:28492532 |
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NCBI chrNW_004936486:12,723,363...12,743,367
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G |
Ofd1 |
OFD1 centriole and centriolar satellite protein |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
|
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NCBI chrNW_004936470:3,292,961...3,331,915
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|
G |
Opa1 |
OPA1 mitochondrial dynamin like GTPase |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 PMID:11810270 PMID:12036970 PMID:14961560 PMID:15505825 PMID:16513463 PMID:17251483 PMID:18222991 PMID:20157015 PMID:20659957 PMID:20952381 PMID:21636302 PMID:21646330 PMID:22042570 PMID:22857269 PMID:23250881 PMID:23401657 PMID:24907432 PMID:25012220 PMID:25205859 PMID:25564500 PMID:25641387 PMID:25741868 PMID:26467025 PMID:28812649 |
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NCBI chrNW_004936711:1,027,531...1,113,796
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G |
Otx2 |
orthodenticle homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:17541950 |
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NCBI chrNW_004936495:1,433,124...1,449,409
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|
G |
Pax2 |
paired box 2 |
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ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28041643 PMID:28492532 |
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NCBI chrNW_004936600:4,850,594...4,939,010
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G |
Pcare |
photoreceptor cilium actin regulator |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:20398886 PMID:21412943 PMID:23105016 PMID:25741868 PMID:27353947 PMID:28041643 PMID:28492532 PMID:28763557 |
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NCBI chrNW_004936493:3,768,032...3,781,511
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|
G |
Pde6a |
phosphodiesterase 6A |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:7493036 PMID:10393062 PMID:17110911 PMID:18849587 PMID:21039428 PMID:22128245 PMID:23105016 PMID:23134348 PMID:23847139 PMID:24339724 PMID:24416769 PMID:25741868 PMID:25775262 PMID:26188004 PMID:26806561 PMID:26868535 PMID:27208204 PMID:27551530 PMID:27917291 PMID:28041643 PMID:28157543 PMID:28492532 PMID:29693493 PMID:30718709 |
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NCBI chrNW_004936504:5,018,171...5,088,333
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|
G |
Pde6b |
phosphodiesterase 6B |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:7724547 PMID:8394174 PMID:8595886 PMID:9238087 PMID:12525556 PMID:17267005 PMID:22334370 PMID:23105016 PMID:24033266 PMID:24265693 PMID:24938718 PMID:25097241 PMID:25356976 PMID:25741868 PMID:25823529 PMID:26355662 PMID:26766544 PMID:27353947 PMID:27898983 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28912962 PMID:29641573 PMID:30054919 PMID:30646425 PMID:30718709 PMID:30924848 |
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NCBI chrNW_004936477:22,418,037...22,472,251
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G |
Pde6c |
phosphodiesterase 6C |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936601:1,343,538...1,393,605
|
|
G |
Pde6g |
phosphodiesterase 6G |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
|
|
NCBI chrNW_004936594:5,263,345...5,267,240
|
|
G |
Pex1 |
peroxisomal biogenesis factor 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:1301993 PMID:2063923 PMID:9398847 PMID:9398848 PMID:10384394 PMID:10447258 PMID:10480353 PMID:11389485 PMID:12032265 PMID:12402331 PMID:15098231 PMID:15542397 PMID:16141001 PMID:17055079 PMID:19105186 PMID:20952722 PMID:21031596 PMID:21846392 PMID:22871920 PMID:23757202 PMID:24503136 PMID:25412400 PMID:25741868 PMID:26219880 PMID:26287655 PMID:26387595 PMID:26643206 PMID:27090541 PMID:27872819 PMID:27882258 PMID:28468868 PMID:28492532 PMID:30362618 PMID:31374812 |
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NCBI chrNW_004936803:1,291,867...1,340,123
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G |
Pex6 |
peroxisomal biogenesis factor 6 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:16530715 PMID:19105186 PMID:19877282 PMID:21031596 PMID:25079577 PMID:25741868 PMID:26387595 PMID:26943801 PMID:27302843 PMID:27848944 PMID:28492532 PMID:31831025 |
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NCBI chrNW_004936476:16,948,137...16,963,601
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G |
Phf3 |
PHD finger protein 3 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:18976725 PMID:20333770 PMID:20537394 PMID:21069908 PMID:21519034 PMID:22302105 PMID:22363543 PMID:23757202 PMID:24474277 PMID:24652164 PMID:25324289 PMID:25356976 PMID:25366773 PMID:25741868 PMID:26161267 PMID:26261414 PMID:26872967 PMID:28492532 PMID:29550188 PMID:30718709 |
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NCBI chrNW_004936476:1,295,697...1,380,608
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|
G |
Pitpnm3 |
PITPNM family member 3 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
|
|
NCBI chrNW_004936677:1,451,974...1,528,864
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|
G |
Pnpla6 |
patatin like phospholipase domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
|
|
NCBI chrNW_004936588:4,608,856...4,632,198
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|
G |
Poc1b |
POC1 centriolar protein B |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
|
|
NCBI chrNW_004936507:6,375,009...6,457,034
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|
G |
Prcd |
photoreceptor disc component |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:20507925 PMID:25741868 |
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NCBI chrNW_004936594:1,615,165...1,628,455
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|
G |
Prdm13 |
PR/SET domain 13 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
|
|
NCBI chrNW_004936651:1,199,928...1,208,697
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|
G |
Prom1 |
prominin 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:10205271 PMID:12657606 PMID:17605048 PMID:18654668 PMID:19718270 PMID:20393116 PMID:20554613 PMID:20859302 PMID:22025579 PMID:22183351 PMID:22581970 PMID:23105016 PMID:24154662 PMID:24265693 PMID:25356976 PMID:25472526 PMID:25741868 PMID:25999674 PMID:26103963 PMID:26153215 PMID:26261540 PMID:26872967 PMID:27208204 PMID:27874104 PMID:28041643 PMID:28492532 PMID:28559085 PMID:29555955 PMID:29847639 PMID:30718709 PMID:31129250 |
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NCBI chrNW_004936477:11,878,261...12,017,228
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|
G |
Prpf3 |
pre-mRNA processing factor 3 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11773002 PMID:15085354 PMID:17932117 PMID:20309403 PMID:20811066 PMID:25741868 PMID:28492532 PMID:28559085 |
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NCBI chrNW_004936580:604,709...632,788
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|
G |
Prpf31 |
pre-mRNA processing factor 31 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:8808602 PMID:11545739 PMID:17325180 PMID:26872967 PMID:28041643 PMID:30718709 |
|
NCBI chrNW_004936994:239,688...252,269
|
|
G |
Prpf4 |
pre-mRNA processing factor 4 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936559:305,443...321,051
|
|
G |
Prpf6 |
pre-mRNA processing factor 6 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25356976 PMID:28492532 |
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NCBI chrNW_004936514:11,175,410...11,220,928
|
|
G |
Prpf8 |
pre-mRNA processing factor 8 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:11468273 PMID:17061239 PMID:20232351 PMID:23950152 PMID:24938718 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004936538:7,780,022...7,814,575
|
|
G |
Prph2 |
peripherin 2 |
no_association |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Retinal dystrophy DNA:polymorphism:exon:p.E304Q,G338D(human) |
CTD ClinVar RGD |
PMID:1684223 PMID:4142662 PMID:7519821 PMID:7862413 PMID:7880786 PMID:8111389 PMID:8202715 PMID:8485576 PMID:8644804 PMID:8675410 PMID:9052636 PMID:9279751 PMID:9443872 PMID:9690896 PMID:10862101 PMID:11139241 PMID:11297544 PMID:11934323 PMID:12042139 PMID:12566026 PMID:12925772 PMID:15370544 PMID:16024869 PMID:16113362 PMID:16799052 PMID:16885924 PMID:16916875 PMID:17296903 PMID:17504850 PMID:17653047 PMID:19038374 PMID:19243827 PMID:21071739 PMID:22466463 PMID:22863181 PMID:23591405 PMID:23847139 PMID:24608669 PMID:25001182 PMID:25082885 PMID:25097241 PMID:25324289 PMID:25447119 PMID:25675413 PMID:25741868 PMID:26842753 PMID:28041643 PMID:28076437 PMID:28492532 PMID:28559085 PMID:28723922 PMID:29555955 PMID:30718709 |
RGD:8553224 |
NCBI chrNW_004936476:17,159,756...17,174,226
|
|
G |
Prps1 |
phosphoribosyl pyrophosphate synthetase 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:28967191 |
|
NCBI chrNW_004936499:7,114,838...7,136,468
|
|
G |
Prss23 |
serine protease 23 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:14507768 PMID:15035989 PMID:20340138 PMID:20938005 PMID:24033266 PMID:24744206 PMID:25711638 PMID:25741868 PMID:26908610 PMID:27316669 |
|
NCBI chrNW_004936498:14,560,730...14,563,195
|
|
G |
Rab28 |
RAB28, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
|
|
NCBI chrNW_004936477:14,066,063...14,140,310
|
|
G |
Rax2 |
retina and anterior neural fold homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25789692 PMID:28492532 PMID:30377383 |
|
NCBI chrNW_004936588:2,133,398...2,135,329
|
|
G |
Rbp3 |
retinol binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:26872967 PMID:28492532 |
|
NCBI chrNW_004936554:7,329,155...7,340,434
|
|
G |
Rdh12 |
retinol dehydrogenase 12 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Retinal dystrophy |
CTD ClinVar |
PMID:15258582 PMID:15322982 PMID:16269441 PMID:17389517 PMID:17512964 PMID:17964524 PMID:18048336 PMID:18779497 PMID:19140180 PMID:20683928 PMID:22065924 PMID:23661369 PMID:23847139 PMID:23900199 PMID:24265693 PMID:24474277 PMID:25133751 PMID:25741868 PMID:25910913 PMID:26047050 PMID:26103963 PMID:26306921 PMID:26497376 PMID:26667666 PMID:27032803 PMID:27208204 PMID:28041643 PMID:28492532 PMID:28559085 PMID:29186038 PMID:30134391 PMID:32014858 |
|
NCBI chrNW_004936495:11,111,247...11,121,976
|
|
G |
Rdh5 |
retinol dehydrogenase 5 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
|
|
NCBI chrNW_004936646:191,136...195,279
|
|
G |
Reep6 |
receptor accessory protein 6 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
|
|
NCBI chrNW_004936588:800,492...804,769
|
|
G |
Rgr |
retinal G protein coupled receptor |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:10581022 PMID:28041643 |
|
NCBI chrNW_004936767:855,811...866,941
|
|
G |
Rho |
rhodopsin |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:1301135 PMID:1302614 PMID:1303237 PMID:1418997 PMID:1484692 PMID:1580841 PMID:1765377 PMID:1833777 PMID:1862076 PMID:1882937 PMID:1897520 PMID:1929926 PMID:1985460 PMID:1987955 PMID:1987956 PMID:2137202 PMID:2215617 PMID:2239971 PMID:2333895 PMID:2613244 PMID:8081400 PMID:8088850 PMID:8253795 PMID:8328469 PMID:8554077 PMID:8841304 PMID:8905849 PMID:9197578 PMID:9810568 PMID:11094174 PMID:11139241 PMID:11879142 PMID:12091393 PMID:14769795 PMID:15509574 PMID:17014888 PMID:18175313 PMID:19913029 PMID:20555336 PMID:21094163 PMID:22321012 PMID:22323724 PMID:22334370 PMID:24265693 PMID:24520188 PMID:24853414 PMID:24935155 PMID:25101269 PMID:25221422 PMID:25741868 PMID:26962691 PMID:28041643 PMID:28492532 PMID:28559085 PMID:29068140 PMID:29847639 PMID:30240733 PMID:30718709 |
|
NCBI chrNW_004936602:896,730...901,480
|
|
G |
Ric3 |
RIC3 acetylcholine receptor chaperone |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
|
|
NCBI chrNW_004936528:9,790,594...9,829,120
|
|
G |
Rims1 |
regulating synaptic membrane exocytosis 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9634506 PMID:12659814 PMID:28492532 |
|
NCBI chrNW_004936618:3,678,400...4,047,994
|
|
G |
Rlbp1 |
retinaldehyde binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:10102299 PMID:12536144 PMID:18344446 PMID:22551409 PMID:25326637 PMID:25741868 PMID:26355662 PMID:28041643 PMID:28492532 |
|
NCBI chrNW_004936483:15,086,485...15,097,980
|
|
G |
Rom1 |
retinal outer segment membrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 PMID:30718709 |
|
NCBI chrNW_004936581:642,322...644,286
|
|
G |
Rp1 |
RP1 axonemal microtubule associated |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:1783394 PMID:8931712 PMID:10391211 PMID:10391212 PMID:10401003 PMID:11095597 PMID:11527933 PMID:19933189 PMID:22334370 PMID:24339724 PMID:25692139 PMID:25741868 PMID:26355662 PMID:27391102 PMID:27854218 PMID:28041643 PMID:28492532 PMID:29425069 PMID:29847639 PMID:30027431 PMID:30718709 |
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NCBI chrNW_004936496:1,396,838...1,411,082
|
|
G |
Rp1l1 |
RP1 like 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:20826268 PMID:22504327 PMID:23281133 PMID:23619761 PMID:23745001 PMID:25741868 PMID:25908487 PMID:26782618 PMID:27623337 PMID:30025130 |
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NCBI chrNW_004936675:2,527,406...2,564,464
|
|
G |
Rp2 |
RP2 activator of ARL3 GTPase |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9697692 PMID:10053026 PMID:10090907 PMID:10520237 PMID:10937588 PMID:10942419 PMID:11262649 PMID:12657579 PMID:15032968 PMID:16472755 PMID:18376416 PMID:20021257 PMID:20669900 PMID:21738648 PMID:22072390 PMID:23150612 PMID:24940031 PMID:25097241 PMID:25741868 PMID:26355662 PMID:28041643 PMID:28209709 PMID:28492532 PMID:30718709 |
|
NCBI chrNW_004936502:12,656,187...12,701,689
|
|
G |
Rpe65 |
retinoid isomerohydrolase RPE65 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Retinal dystrophy |
CTD ClinVar |
PMID:9326941 PMID:9501220 PMID:10766140 PMID:10937591 PMID:11095629 PMID:11462243 PMID:11786058 PMID:15024725 PMID:16150724 PMID:16754667 PMID:17724218 PMID:17964524 PMID:18599565 PMID:18632300 PMID:18682808 PMID:19117922 PMID:19431183 PMID:19854499 PMID:19959640 PMID:20604683 PMID:20683928 PMID:21151602 PMID:21153841 PMID:21211845 PMID:21654732 PMID:21911650 PMID:24997176 PMID:25257057 PMID:25741868 PMID:25752820 PMID:26024124 PMID:26626312 PMID:26906952 PMID:27307694 PMID:27874104 PMID:28041643 PMID:28041994 PMID:28492532 PMID:29332120 PMID:29659842 PMID:29785639 PMID:29947567 PMID:30628748 PMID:30718709 PMID:31379919 PMID:32295525 |
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NCBI chrNW_004936591:3,347,346...3,368,062
|
|
G |
Rpgr |
retinitis pigmentosa GTPase regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Retinal dystrophy |
CTD ClinVar |
PMID:9399904 PMID:9855162 PMID:10932196 PMID:10937588 PMID:11754050 PMID:11857109 PMID:11875055 PMID:11992260 PMID:17195164 PMID:25741868 PMID:26872967 PMID:28492532 PMID:30718709 PMID:32679846 |
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NCBI chrNW_004936502:5,163,164...5,212,940
|
|
G |
Rpgrip1 |
RPGR interacting protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Retinal dystrophy |
CTD ClinVar |
PMID:12920076 PMID:15024725 PMID:25445212 PMID:25741868 PMID:28492532 PMID:28559085 PMID:28714225 PMID:30072743 PMID:30576320 |
|
NCBI chrNW_004936880:440,900...511,503
|
|
G |
Rpgrip1l |
RPGRIP1 like |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
|
|
NCBI chrNW_004936475:6,219,187...6,321,612
|
|
G |
Rs1 |
retinoschisin 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:618178 PMID:9326935 PMID:9618178 PMID:9760195 PMID:10220153 PMID:10234514 PMID:10533068 PMID:10589241 PMID:10636421 PMID:10636740 PMID:10922205 PMID:10947001 PMID:12417531 PMID:12920343 PMID:12928282 PMID:15932525 PMID:15937075 PMID:16167295 PMID:16361673 PMID:17296904 PMID:17304551 PMID:17515881 PMID:17615541 PMID:17987333 PMID:18369700 PMID:18541843 PMID:18834580 PMID:19093009 PMID:19390641 PMID:20061330 PMID:20809529 PMID:21701876 PMID:22110067 PMID:22332228 PMID:23288992 PMID:23453514 PMID:23514609 PMID:23568735 PMID:23847049 PMID:24634885 PMID:25525159 PMID:25741868 PMID:26356828 PMID:26872967 PMID:27032803 PMID:28272453 PMID:28348004 PMID:28492532 PMID:28559085 PMID:29851975 PMID:29902095 PMID:30551202 PMID:30652005 PMID:30923717 |
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NCBI chrNW_004936844:284,938...314,524
|
|
G |
Sag |
S-antigen visual arrestin |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9452120 PMID:15234147 PMID:22419846 PMID:22665972 PMID:25741868 PMID:28492532 PMID:28549094 PMID:29305604 |
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NCBI chrNW_004936525:3,932,118...3,965,651
|
|
G |
Sema4a |
semaphorin 4A |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:26103963 PMID:28492532 |
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NCBI chrNW_004936580:5,404,380...5,431,183
|
|
G |
Slc19a1 |
solute carrier family 19 member 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:19390655 PMID:21862674 PMID:23667181 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29977801 |
|
NCBI chrNW_004936778:823,376...846,843
|
|
G |
Slc24a1 |
solute carrier family 24 member 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
|
|
NCBI chrNW_004936471:25,872,854...25,909,102
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|
G |
Slc7a14 |
solute carrier family 7 member 14 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936593:1,938,392...2,045,639
|
|
G |
Spata7 |
spermatogenesis associated 7 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:21310915 PMID:22136677 PMID:25133751 PMID:25412400 PMID:29411205 |
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NCBI chrNW_004936488:15,878,167...15,911,301
|
|
G |
Syn3 |
synapsin III |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:23023527 PMID:26493035 PMID:27601084 PMID:28492532 PMID:28559085 |
|
NCBI chrNW_004936492:6,836,441...7,253,867
|
|
G |
Timp3 |
TIMP metallopeptidase inhibitor 3 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:23023527 PMID:26493035 PMID:27601084 PMID:28492532 PMID:28559085 |
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NCBI chrNW_004936492:6,996,627...7,046,137
|
|
G |
Topors |
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:26872967 |
|
NCBI chrNW_004936524:1,219,101...1,229,937
|
|
G |
Trpm1 |
transient receptor potential cation channel subfamily M member 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:19896109 PMID:19896113 PMID:28492532 |
|
NCBI chrNW_004936483:723,784...856,839
|
|
G |
Tspan12 |
tetraspanin 12 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
|
|
NCBI chrNW_004936605:4,265,475...4,338,518
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|
G |
Ttc21b |
tetratricopeptide repeat domain 21B |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 PMID:28492532 PMID:29068549 |
|
NCBI chrNW_004936469:13,365,168...13,454,340
|
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G |
Ttc8 |
tetratricopeptide repeat domain 8 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:16308660 PMID:21044901 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chrNW_004936488:16,258,247...16,306,077
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|
G |
Ttll5 |
tubulin tyrosine ligase like 5 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:24791901 PMID:25741868 |
|
NCBI chrNW_004936488:4,723,314...4,983,926
|
|
G |
Tub |
TUB bipartite transcription factor |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
|
|
NCBI chrNW_004936528:9,829,889...9,912,645
|
|
G |
Tulp1 |
TUB like protein 1 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:9462750 PMID:9660588 PMID:22665969 PMID:25741868 PMID:26047050 PMID:26355662 PMID:26766544 PMID:28127548 PMID:28492532 PMID:28981474 PMID:30718709 |
|
NCBI chrNW_004936476:23,744,707...23,757,002
|
|
G |
Ush1c |
USH1 protein network component harmonin |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 PMID:12702164 PMID:17407589 PMID:21569298 PMID:22135276 PMID:24033266 PMID:25741868 PMID:26969326 PMID:27208204 PMID:28041643 PMID:28492532 PMID:30718709 |
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NCBI chrNW_004936528:1,552,175...1,594,740
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|
G |
Ush2a |
usherin |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:1968399 PMID:9624053 PMID:10090909 PMID:10729113 PMID:10738000 PMID:10775529 PMID:10909849 PMID:11311042 PMID:11402400 PMID:12112664 PMID:12427073 PMID:12525556 PMID:14970843 PMID:15015129 PMID:15025721 PMID:15043528 PMID:15241801 PMID:15325563 PMID:15326663 PMID:15671307 PMID:15823922 PMID:16098008 PMID:16963483 PMID:17085681 PMID:17405132 PMID:18273898 PMID:18281613 PMID:18452394 PMID:18463160 PMID:18641288 PMID:18665192 PMID:18665195 PMID:19023448 PMID:19129697 PMID:19683999 PMID:19737284 PMID:19881469 PMID:20052763 PMID:20145675 PMID:20301515 PMID:20440071 PMID:20497194 PMID:20507924 PMID:20513143 PMID:20591486 PMID:20596040 PMID:20613545 PMID:21151602 PMID:21569298 PMID:21593743 PMID:21686329 PMID:21738395 PMID:21909055 PMID:22004887 PMID:22009552 PMID:22135276 PMID:22334370 PMID:22563300 PMID:22581970 PMID:22681893 PMID:22952768 PMID:23352160 PMID:23591405 PMID:23661368 PMID:23737954 PMID:23755871 PMID:23767834 PMID:23924366 PMID:23940504 PMID:23967202 PMID:23991284 PMID:24033266 PMID:24043777 PMID:24088041 PMID:24154662 PMID:24160897 PMID:24265693 PMID:24498627 PMID:24516651 PMID:24603341 PMID:24607488 PMID:24625443 PMID:24853665 PMID:24901346 PMID:24938718 PMID:24944099 PMID:25078356 PMID:25097241 PMID:25133613 PMID:25133751 PMID:25211151 PMID:25252889 PMID:25261458 PMID:25262649 PMID:25268133 PMID:25324289 PMID:25326637 PMID:25333064 PMID:25342620 PMID:25356976 PMID:25366773 PMID:25375654 PMID:25404053 PMID:25412400 PMID:25425308 PMID:25472526 PMID:25521520 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25649381 PMID:25741868 PMID:25804404 PMID:25823529 PMID:25910913 PMID:25999674 PMID:26075083 PMID:26261414 PMID:26306921 PMID:26310143 PMID:26338283 PMID:26355662 PMID:26416264 PMID:26467025 PMID:26633545 PMID:26654877 PMID:26667666 PMID:26764160 PMID:26766544 PMID:26806561 PMID:26856745 PMID:26872967 PMID:26927203 PMID:26969326 PMID:27032803 PMID:27145477 PMID:27157150 PMID:27160483 PMID:27208204 PMID:27318125 PMID:27344577 PMID:27460420 PMID:27583663 PMID:27596865 PMID:27624628 PMID:27957503 PMID:28000701 PMID:28005958 PMID:28041643 PMID:28127548 PMID:28130426 PMID:28157192 PMID:28281779 PMID:28492532 PMID:28559085 PMID:28653555 PMID:28761320 PMID:28838317 PMID:28894305 PMID:28944237 PMID:28981474 PMID:28984810 PMID:29074561 PMID:29142287 PMID:29196752 PMID:29293505 PMID:29343940 PMID:29490346 PMID:29588463 PMID:29625443 PMID:29641573 PMID:29767709 PMID:29785639 PMID:29899460 PMID:29912909 PMID:29953849 PMID:30190494 PMID:30245029 PMID:30280194 PMID:30459346 PMID:30543658 PMID:30718709 PMID:30872814 PMID:30948794 PMID:31429209 PMID:31456290 PMID:31877679 |
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NCBI chrNW_004936628:2,123,917...2,859,958
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G |
Vcan |
versican |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:16043844 PMID:16877430 PMID:21738396 PMID:22739342 |
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NCBI chrNW_004936469:2,585,142...2,688,029
|
|
G |
Vps13b |
vacuolar protein sorting 13 homolog B |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:32581362 |
|
NCBI chrNW_004936470:43,281,905...43,952,523
|
|
G |
Wdr19 |
WD repeat domain 19 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25741868 PMID:26489029 PMID:28492532 |
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NCBI chrNW_004936482:6,863,592...6,937,810
|
|
G |
Whrn |
whirlin |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:24033266 PMID:28492532 |
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NCBI chrNW_004936487:3,668,465...3,748,234
|
|
G |
Zdhhc24 |
zinc finger DHHC-type containing 24 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:12920096 PMID:15314642 PMID:17980398 PMID:18032602 PMID:18669544 PMID:18766993 PMID:20472660 PMID:20498079 PMID:21052717 PMID:21642631 PMID:22581970 PMID:22940089 PMID:23143442 PMID:23565731 PMID:23847139 PMID:23943788 PMID:24033266 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26872967 PMID:27032803 PMID:27659767 PMID:28041643 PMID:28492532 PMID:29264490 PMID:30614526 PMID:30718709 |
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NCBI chrNW_004936599:3,047,011...3,054,512
|
|
G |
Zfyve26 |
zinc finger FYVE-type containing 26 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:15258582 PMID:15322982 PMID:16269441 PMID:17389517 PMID:17512964 PMID:18779497 PMID:20683928 PMID:22065924 PMID:23847139 PMID:24265693 PMID:25741868 PMID:25910913 PMID:26047050 PMID:26103963 PMID:26667666 PMID:27208204 PMID:28041643 PMID:28492532 PMID:28559085 |
|
NCBI chrNW_004936495:11,132,025...11,191,446
|
|
G |
Znf408 |
zinc finger protein 408 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
PMID:25882705 PMID:28492532 |
|
NCBI chrNW_004936562:2,394,368...2,400,924
|
|
G |
Znf513 |
zinc finger protein 513 |
|
ISO |
ClinVar Annotator: match by term: Retinal dystrophy |
ClinVar |
|
|
NCBI chrNW_004936493:5,203,926...5,207,031
|
|
|
G |
Htra1 |
HtrA serine peptidase 1 |
|
ISO |
DNA:snp:promoter:g.-625G>A (rs11200638) (human) |
RGD |
PMID:17426452 |
RGD:7394693 |
NCBI chrNW_004936486:11,271,130...11,317,271
|
|
|
G |
Fam177a1 |
family with sequence similarity 177 member A1 |
|
ISO |
ClinVar Annotator: match by term: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY |
ClinVar |
PMID:30893644 |
|
NCBI chrNW_004936494:9,226,181...9,247,532
|
|
G |
Ppp2r3c |
protein phosphatase 2 regulatory subunit B''gamma |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936494:9,247,600...9,283,019
|
|
|
G |
Zfyve26 |
zinc finger FYVE-type containing 26 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936495:11,132,025...11,191,446
|
|
|
G |
P3h2 |
prolyl 3-hydroxylase 2 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936578:268,815...431,123
|
|
|
G |
Col2a1 |
collagen type II alpha 1 chain |
|
ISO |
DNA:missense mutation:exon:p.G67D (human) CTD Direct Evidence: marker/mechanism DNA:frameshift mutation:exon:p.C57X (human) |
RGD CTD |
PMID:8317498 PMID:11812423 |
RGD:8657385 RGD:8657389 |
NCBI chrNW_004936512:5,861,933...5,894,898
|
|
G |
Vcan |
versican |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936469:2,585,142...2,688,029
|
|
|
G |
Aco2 |
aconitase 2 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936492:407,482...452,538
|
|
G |
Polr3h |
RNA polymerase III subunit H |
|
ISO |
ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration |
ClinVar |
PMID:24088041 PMID:25351951 PMID:25741868 PMID:30689204 PMID:31130284 PMID:32519519 |
|
NCBI chrNW_004936492:395,348...407,588
|
|
|
G |
Scaper |
S-phase cyclin A associated protein in the ER |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936471:35,414,507...35,834,438
|
|
|
G |
C1qtnf5 |
C1q and TNF related 5 |
|
ISO |
ClinVar Annotator: match by term: Microphthalmia, isolated 5 ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen |
ClinVar |
PMID:1258954 PMID:12140190 PMID:15976030 PMID:17167404 PMID:18554571 PMID:18648522 PMID:19169412 PMID:19753314 PMID:20361016 PMID:21670352 PMID:22142163 PMID:22605927 PMID:22892318 PMID:23112574 PMID:23143909 PMID:23742260 PMID:24088041 PMID:24531000 PMID:25097241 PMID:25412400 PMID:25741868 PMID:26583794 PMID:26633545 PMID:28492532 PMID:29170418 PMID:29450879 PMID:30181649 |
|
NCBI chrNW_004936542:4,269,636...4,271,497
|
|
G |
Mfrp |
membrane frizzled-related protein |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936542:4,272,250...4,277,231
|
|
|
G |
Cnnm4 |
cyclin and CBS domain divalent metal cation transport mediator 4 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936744:715,523...754,148
|
|
|
G |
Ahi1 |
Abelson helper integration site 1 |
|
ISO |
DNA:missense mutation:cds:p.R830W (c.2488C>T) (human) |
RGD |
PMID:17409309 |
RGD:7246903 |
NCBI chrNW_004936560:2,881,631...3,057,256
|
|
G |
Nphp4 |
nephrocystin 4 |
|
ISO |
DNA:mutations:exon, intron:multiple |
RGD |
PMID:15776426 |
RGD:11068164 |
NCBI chrNW_004936623:802,152...904,198
|
|
|
G |
Il1a |
interleukin 1 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
|
NCBI chrNW_004936783:1,210,715...1,218,315
|
|
G |
Il1b |
interleukin 1 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:7979221 |
|
NCBI chrNW_004936783:1,251,678...1,256,807
|
|
G |
Ppargc1a |
PPARG coactivator 1 alpha |
|
ISO |
|
RGD |
PMID:23406886 |
RGD:7241824 |
NCBI chrNW_004936477:4,881,230...5,488,208
|
|
|
G |
Anxa5 |
annexin A5 |
|
ISO |
mRNA:increased expression:white blood cell: |
RGD |
PMID:19684010 |
RGD:6478714 |
NCBI chrNW_004936662:926,302...959,964
|
|
G |
Apoe |
apolipoprotein E |
susceptibility |
ISO |
DNA:polymorphism:exon: |
RGD |
PMID:9512153 PMID:16079201 |
RGD:7495762 RGD:7775015 |
NCBI chrNW_004936706:1,512,438...1,516,805
|
|
G |
C3 |
complement C3 |
|
ISO |
DNA:SNP: :rs2241394 (human) |
RGD |
PMID:22174912 |
RGD:7401249 |
NCBI chrNW_004936588:3,985,732...4,023,221
|
|
G |
Cfi |
complement factor I |
|
ISO |
DNA:SNPs: :rs10033900, rs13117504 (human) |
RGD |
PMID:23900096 |
RGD:8662315 |
NCBI chrNW_004936563:960,883...998,136
|
|
G |
Crp |
C-reactive protein |
treatment |
ISO |
DNA:SNPs: :rs2808635,rs876538(human) |
RGD |
PMID:17400294 PMID:19692124 |
RGD:9491756 RGD:9491775 |
NCBI chrNW_004936740:885,855...888,854
|
|
G |
Eln |
elastin |
no_association |
ISO |
DNA:SNPintron: rs2301995(human) |
RGD |
PMID:18326737 PMID:22065928 |
RGD:7387224 RGD:9585729 |
NCBI chrNW_004936543:3,135,169...3,165,023
|
|
G |
Fgd6 |
FYVE, RhoGEF and PH domain containing 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27089177 |
|
NCBI chrNW_004936507:11,325,599...11,438,561
|
|
G |
Flt1 |
fms related receptor tyrosine kinase 1 |
susceptibility treatment |
ISO |
DNA:SNP::rs9943922, rs9508034, rs2281827, rs7324510, rs9513115 (human) protein:increased expression:vitreous: |
RGD |
PMID:20609706 PMID:22868384 PMID:24812550 |
RGD:10402108 RGD:10402116 RGD:10402118 |
NCBI chrNW_004936472:23,442,946...23,617,523
|
|
G |
Gstp1 |
glutathione S-transferase pi 1 |
susceptibility |
ISO |
DNA:polymorphism::(rs1695)(human) DNA:deletion, haplotype:: (human) |
RGD |
PMID:22487578 PMID:28221473 |
RGD:12792224 RGD:8547932 |
NCBI chrNW_004936599:2,197,681...2,200,642
|
|
G |
Htra1 |
HtrA serine peptidase 1 |
susceptibility |
ISO |
DNA:snp:promoter:g.-625G>A (rs11200638) (human) DNA:silent mutations:exon:g.+102C>T, g.+108G>T/C (rs1049331, rs2293870) (human) |
RGD |
PMID:18164066 PMID:22800422 |
RGD:7387322 RGD:7394724 |
NCBI chrNW_004936486:11,271,130...11,317,271
|
|
G |
Igf1 |
insulin like growth factor 1 |
|
ISO |
protein:increased expression:aqueous humor of eyeball: mRNA,protein:increased expression:endothelial cell: |
RGD |
PMID:12714661 PMID:24106111 |
RGD:10045867 RGD:10045893 |
NCBI chrNW_004936492:11,709,623...11,784,028
|
|
G |
Igf1r |
insulin like growth factor 1 receptor |
|
ISO |
mRNA,protein:increased expression:endothelial cell: |
RGD |
PMID:12714661 |
RGD:10045893 |
NCBI chrNW_004936483:4,563,995...4,860,231
|
|
G |
Igfbp2 |
insulin like growth factor binding protein 2 |
|
ISO |
protein:increased expression:aqueous humor of eyeball: |
RGD |
PMID:24106111 |
RGD:10045867 |
NCBI chrNW_004936586:671,760...696,783
|
|
G |
Kdr |
kinase insert domain receptor |
susceptibility |
ISO |
DNA:SNP: :rs2071559(human) |
RGD |
PMID:22919317 |
RGD:8549752 |
NCBI chrNW_004936482:17,537,697...17,581,320
|
|
G |
Loxl1 |
lysyl oxidase like 1 |
|
ISO |
DNA:SNP:exon:p.R141L (human) |
RGD |
PMID:21236409 |
RGD:7387334 |
NCBI chrNW_004936471:33,075,542...33,099,877
|
|
G |
Mapk8 |
mitogen-activated protein kinase 8 |
|
ISO |
|
RGD |
PMID:23341606 |
RGD:10412675 |
NCBI chrNW_004936728:1,775,746...1,893,895
|
|
G |
Mdm1 |
Mdm1 nuclear protein |
|
ISO |
DNA, mRNA:nonsense mutation, decreased expression:retina |
RGD |
PMID:18805803 |
RGD:10412062 |
NCBI chrNW_004936545:6,261,887...6,294,487
|
|
G |
Mthfr |
methylenetetrahydrofolate reductase |
susceptibility |
ISO |
DNA:SNP:cds:rs1801133(human) |
RGD |
PMID:22065928 |
RGD:7387224 |
NCBI chrNW_004936474:623,438...637,849
|
|
G |
Nos3 |
nitric oxide synthase 3 |
susceptibility |
ISO |
DNA:snp:cds:c.894G>T (rs1799983) (human) |
RGD |
PMID:23276910 |
RGD:7771558 |
NCBI chrNW_004936527:6,427,147...6,445,770
|
|
G |
Pdgfb |
platelet derived growth factor subunit B |
|
ISO |
protein:increased expression:plasma: |
RGD |
PMID:24334449 |
RGD:10449444 |
NCBI chrNW_004936492:2,353,840...2,368,573
|
|
G |
Pdgfrb |
platelet derived growth factor receptor beta |
|
ISO |
|
RGD |
PMID:22773904 |
RGD:10053644 |
NCBI chrNW_004936504:4,762,251...4,799,789
|
|
G |
Pon1 |
paraoxonase 1 |
susceptibility |
ISO |
protein:decreased activity:serum (human) DNA:missense mutations:cds:p.L55M, p.Q192R (human) |
RGD |
PMID:19155603 PMID:20042177 |
RGD:8547556 RGD:8547668 |
NCBI chrNW_004936585:4,954,871...4,979,560
|
|
G |
Sod2 |
superoxide dismutase 2 |
susceptibility |
ISO |
DNA:polymorphism:cds:p.V16A(rs4880)(human) |
RGD |
PMID:18573360 |
RGD:8158102 |
NCBI chrNW_004936489:11,178,338...11,191,601
|
|
G |
Tlr2 |
toll like receptor 2 |
|
ISO |
mRNA:increased expression:peripheral blood mononuclear cell: |
RGD |
PMID:23946637 |
RGD:8552827 |
NCBI chrNW_004936576:522,234...531,660
|
|
G |
Tlr3 |
toll like receptor 3 |
|
ISO |
mRNA:increased expression:peripheral blood mononuclear cell: |
RGD |
PMID:23946637 |
RGD:8552827 |
NCBI chrNW_004936554:3,370,766...3,388,125
|
|
G |
Vegfa |
vascular endothelial growth factor A |
treatment |
ISO |
DNA:SNP: :rs943080(human) DNA:SNP: :rs3025000(human) |
RGD |
PMID:23149126 PMID:23745581 |
RGD:7483607 RGD:7483627 |
NCBI chrNW_004936476:16,245,134...16,261,180
|
|
|
G |
C1qtnf5 |
C1q and TNF related 5 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936542:4,269,636...4,271,497
|
|
G |
Crb1 |
crumbs cell polarity complex component 1 |
|
ISO |
DNA:missense mutation: :p.C249W (mouse) |
RGD |
PMID:17234588 |
RGD:8552692 |
NCBI chrNW_004936567:6,347,661...6,559,731
|
|
G |
Mfrp |
membrane frizzled-related protein |
|
ISO |
ClinVar Annotator: match by term: Late-onset retinal degeneration ClinVar Annotator: match by term: RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT |
ClinVar |
PMID:12140190 PMID:12944416 PMID:15976030 PMID:18648522 PMID:19169412 PMID:20361016 PMID:22142163 PMID:22892318 PMID:23289492 PMID:24531000 PMID:25097241 PMID:25326637 PMID:25741868 PMID:28492532 PMID:29847639 |
|
NCBI chrNW_004936542:4,272,250...4,277,231
|
|
G |
Pla2g5 |
phospholipase A2 group V |
|
ISO |
ClinVar Annotator: match by term: Late-onset retinal degeneration |
ClinVar |
|
|
NCBI chrNW_004936474:6,131,915...6,150,810
|
|
|
G |
Lrat |
lecithin retinol acyltransferase |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936576:1,491,480...1,498,568
|
|
|
G |
Spata7 |
spermatogenesis associated 7 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936488:15,878,167...15,911,301
|
|
|
G |
Adipor1 |
adiponectin receptor 1 |
|
ISO |
DNA:SNP:intron:c.-95+191A>G (rs10753929) (human) |
RGD |
PMID:22387454 |
RGD:8694465 |
NCBI chrNW_004936567:1,658,405...1,674,794
|
|
G |
Apoe |
apolipoprotein E |
susceptibility no_association |
ISO |
CTD Direct Evidence: marker/mechanism DNA:haplotype:cds: DNA:polymorphism:exon: |
CTD RGD |
PMID:10859513 PMID:12567264 PMID:16079201 PMID:16453339 PMID:19384966 |
RGD:7495761 RGD:7771552 RGD:7771587 RGD:7775015 |
NCBI chrNW_004936706:1,512,438...1,516,805
|
|
G |
Bad |
BCL2 associated agonist of cell death |
severity |
ISO |
protein:increased expression:vitreous humor |
RGD |
PMID:22773904 |
RGD:10053644 |
NCBI chrNW_004936599:4,924,349...4,933,683
|
|
G |
Bax |
BCL2 associated X, apoptosis regulator |
|
ISO |
|
RGD |
PMID:20054800 |
RGD:10043353 |
NCBI chrNW_004936664:2,968,103...2,973,652
|
|
G |
Bbs10 |
Bardet-Biedl syndrome 10 |
|
ISO |
ClinVar Annotator: match by term: Macular degeneration |
ClinVar |
PMID:16582908 PMID:20080638 PMID:20120035 PMID:20177705 PMID:20472660 PMID:20498079 PMID:20876674 PMID:21044901 PMID:21209035 PMID:21517826 PMID:21642631 PMID:22410627 PMID:24746959 PMID:25741868 PMID:25982971 PMID:28492532 |
|
NCBI chrNW_004936568:4,640,611...4,644,627
|
|
G |
Best1 |
bestrophin 1 |
|
ISO |
Best macular dystrophy, OMIM:153700 ClinVar Annotator: match by term: Macular dystrophy |
RGD ClinVar |
PMID:9662395 PMID:10798642 PMID:27193166 PMID:28481155 PMID:28492532 PMID:28559085 PMID:29781975 PMID:30718709 PMID:30880907 |
RGD:1599738 |
NCBI chrNW_004936581:1,120,681...1,132,226
|
|
G |
Bmp4 |
bone morphogenetic protein 4 |
|
ISO |
protein:increased expression:bruch's membrane,pigmented layer of retina: |
RGD |
PMID:19158083 |
RGD:8699495 |
NCBI chrNW_004936697:1,054,237...1,061,468
|
|
G |
C1qtnf5 |
C1q and TNF related 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16123441 |
|
NCBI chrNW_004936542:4,269,636...4,271,497
|
|
G |
C2 |
complement C2 |
susceptibility no_association |
ISO |
DNA:SNP:intron:c.1360+62G>T (rs547154) (human) ClinVar Annotator: match by term: Macular degeneration DNA:missense mutation, SNP:cds, intron:p.E318D, c.1360+62G>T (rs9332739, rs547154) (human) DNA:SNP, haplotype:intron:c.1360+62G>T (rs547154) (human) DNA:polymorphism DNA:missense mutation:cds:p.E318D (rs9332739) (human) DNA:missense mutation, snp:cds, intron:p.E318D, c.1360+62G>T (rs9332739, rs547154) (human) CTD Direct Evidence: marker/mechanism DNA:missense mutation, haplotype:cds:p.E318D (rs9332739) (human) |
RGD ClinVar CTD |
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:17576744 PMID:18806293 PMID:19169232 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22232432 PMID:22273503 PMID:22440158 PMID:23112567 PMID:23233260 PMID:24033266 PMID:24652797 PMID:25741868 |
RGD:1600582 RGD:7411691 RGD:7411692 RGD:7411693 RGD:7411694 RGD:7411713 RGD:7411720 RGD:7411731 |
NCBI chrNW_004936727:1,602,400...1,615,974
|
|
G |
C3 |
complement C3 |
|
ISO |
DNA:missense mutation:cds:p.R102G (rs2230199) (human) ClinVar Annotator: match by term: Macular degeneration CTD Direct Evidence: marker/mechanism DNA:polymorphism: :p.R102G (human) |
RGD ClinVar CTD |
PMID:17767156 PMID:18325906 PMID:20157618 PMID:23747511 PMID:24036949 PMID:24036950 PMID:24036952 PMID:28492532 |
RGD:7401268 RGD:7411715 RGD:7411723 |
NCBI chrNW_004936588:3,985,732...4,023,221
|
|
G |
C9 |
complement C9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24036952 |
|
NCBI chrNW_004936518:2,947,956...2,994,892
|
|
G |
Cacna1f |
calcium voltage-gated channel subunit alpha1 F |
|
ISO |
ClinVar Annotator: match by term: Macular dystrophy |
ClinVar |
PMID:30718709 |
|
NCBI chrNW_004936721:1,078,570...1,106,153
|
|
G |
Cacng3 |
calcium voltage-gated channel auxiliary subunit gamma 3 |
susceptibility |
ISO |
DNA:SNPs: : |
RGD |
PMID:21169531 |
RGD:13524556 |
NCBI chrNW_004936501:8,762,386...8,840,123
|
|
G |
Cd36 |
CD36 molecule |
|
ISO |
|
RGD |
PMID:18288886 |
RGD:2307226 |
NCBI chrNW_004936810:791,823...838,303
|
|
G |
Cdh3 |
cadherin 3 |
|
ISO |
ClinVar Annotator: match by term: Macular dystrophy |
ClinVar |
PMID:10420194 PMID:14708629 PMID:15805154 PMID:28041643 |
|
NCBI chrNW_004936475:18,908,031...18,954,402
|
|
G |
Cdkn1a |
cyclin dependent kinase inhibitor 1A |
|
ISO |
|
RGD |
PMID:20054800 |
RGD:10043353 |
NCBI chrNW_004936476:22,717,308...22,725,127
|
|
G |
Cdkn1b |
cyclin dependent kinase inhibitor 1B |
|
ISO |
|
RGD |
PMID:20054800 |
RGD:10043353 |
NCBI chrNW_004936587:4,573,166...4,578,480
|
|
G |
Cerkl |
ceramide kinase like |
|
ISO |
ClinVar Annotator: match by term: Macular dystrophy |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936509:10,294,247...10,404,743
|
|
G |
Cfb |
complement factor B |
susceptibility no_association |
ISO |
DNA:missense mutation:cds:p.R32Q (rs641153) (human) ClinVar Annotator: match by term: Macular degeneration DNA:snp:intron:c.1169-69T>C (rs541862) (human) DNA:missense mutations:cds:p.L9H, p.R32Q (rs4151667, rs641153) (human) DNA:missense mutation, SNP:cds, intron:p.R32L, c.*500T>C (rs641153, rs2072633) (human) DNA:SNPs: :multiple CTD Direct Evidence: marker/mechanism DNA:missense mutation, haplotype:cds:p.L9H (rs4151667) (human) |
RGD ClinVar CTD |
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:19696172 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22232432 PMID:22273503 PMID:22440158 PMID:23112567 PMID:23233260 PMID:23847193 PMID:24033266 PMID:24652797 PMID:25741868 PMID:26054779 |
RGD:7411691 RGD:7411694 RGD:7411713 RGD:7411714 RGD:7411720 RGD:7411731 |
NCBI chrNW_004936727:1,595,872...1,602,274
|
|
G |
Cfi |
complement factor I |
no_association disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism DNA:SNP:cds:c.345G>A (rs2285714) (human) DNA:missense mutation:cds:p.G119R (human) DNA:SNP:intron:g.110659067T>C (rs10033900) (human) |
CTD RGD |
PMID:22815349 PMID:23685748 PMID:23900096 PMID:24036952 PMID:26691988 |
RGD:8662313 RGD:8662315 RGD:8662321 |
NCBI chrNW_004936563:960,883...998,136
|
|
G |
Cnga1 |
cyclic nucleotide gated channel subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Macular dystrophy |
ClinVar |
PMID:7479749 PMID:24033266 PMID:24265693 PMID:25326637 PMID:25741868 PMID:28492532 PMID:28981474 PMID:30718709 |
|
NCBI chrNW_004936482:14,091,343...14,107,793
|
|
G |
Cnga3 |
cyclic nucleotide gated channel subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Macular degeneration ClinVar Annotator: match by term: Macular dystrophy |
ClinVar |
PMID:11536077 PMID:17693388 PMID:18445228 PMID:23972307 PMID:24033266 PMID:25741868 PMID:28341476 PMID:28492532 PMID:28559085 |
|
NCBI chrNW_004936744:1,499,431...1,537,784
|
|
G |
Cngb3 |
cyclic nucleotide gated channel subunit beta 3 |
|
ISO |
ClinVar Annotator: match by term: Macular dystrophy |
ClinVar |
PMID:28041643 PMID:28795510 |
|
NCBI chrNW_004936544:1,166,896...1,305,339
|
|
G |
Col18a1 |
collagen type XVIII alpha 1 chain |
|
ISO |
ClinVar Annotator: match by term: Macular dystrophy |
ClinVar |
PMID:19390655 PMID:21862674 PMID:23667181 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29977801 |
|
NCBI chrNW_004936778:847,473...943,038
|
|
G |
Crb1 |
crumbs cell polarity complex component 1 |
|
ISO |
DNA:frameshift mutation ClinVar Annotator: match by term: Macular dystrophy |
RGD ClinVar |
PMID:10508521 PMID:11389483 PMID:12700176 PMID:15024725 PMID:15459956 PMID:17128490 PMID:17297678 PMID:20683928 PMID:20956273 PMID:23379534 PMID:24033266 PMID:24432192 PMID:24512366 PMID:25474345 PMID:25741868 PMID:26047050 PMID:26914788 PMID:27096895 PMID:27258436 PMID:27628848 PMID:28041643 PMID:28129017 PMID:28181551 PMID:28341475 PMID:28492532 PMID:28819299 PMID:29391521 PMID:30718709 |
RGD:8552788 |
NCBI chrNW_004936567:6,347,661...6,559,731
|
|
G |
Crp |
C-reactive protein |
susceptibility |
ISO |
protein:increased expression:serum: |
RGD |
PMID:16225921 PMID:20346514 |
RGD:9491758 RGD:9491760 |
NCBI chrNW_004936740:885,855...888,854
|
|
G |
Cryab |
crystallin alpha B |
treatment |
ISO |
|
RGD |
PMID:25483086 |
RGD:13503350 |
NCBI chrNW_004936612:2,532,851...2,536,473
|
|
G |
Cx3cr1 |
C-X3-C motif chemokine receptor 1 |
no_association |
ISO |
DNA:missense mutation:cds:p.V249I (human) DNA:missense mutation:cds:p.T280M (human) DNA:missense mutations:cds:p.V249I, p.T280M (rs3732379, rs3732378) (human) DNA:missense mutations:cds:p.V249I, p.T280M (human) |
RGD |
PMID:15208270 PMID:15944936 PMID:17652758 PMID:22816662 PMID:25050486 |
RGD:9479078 RGD:9491385 RGD:9491390 RGD:9491392 RGD:9491395 |
NCBI chrNW_004936473:28,508,726...28,535,640
|
|
G |
Efemp1 |
EGF containing fibulin extracellular matrix protein 1 |
no_association |
ISO |
protein:altered expression: : |
RGD |
PMID:12242346 PMID:17666404 PMID:17872905 |
RGD:10401788 RGD:10401789 RGD:10401794 |
NCBI chrNW_004936491:2,159,654...2,214,480
|
|
G |
Eln |
elastin |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:16123400 |
RGD:9585737 |
NCBI chrNW_004936543:3,135,169...3,165,023
|
|
G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
susceptibility |
ISO |
DNA:missense mutations, haplotype:cds:p.D312N, p.K751Q (human) |
RGD |
PMID:20375340 |
RGD:10401085 |
NCBI chrNW_004936706:1,816,561...1,829,638
|
|
G |
Ercc6 |
ERCC excision repair 6, chromatin remodeling factor |
onset |
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Macular degeneration |
CTD ClinVar RGD |
PMID:16754848 PMID:18414213 PMID:21072178 PMID:25741868 PMID:28492532 |
RGD:10401096 |
NCBI chrNW_004936728:706,499...843,447
|
|
G |
Esr1 |
estrogen receptor 1 |
|
ISO |
DNA:snps, haplotype:intron:c.454-397T>C, c.454-351A>G (rs2234693, rs9340799) (human) |
RGD |
PMID:17325140 |
RGD:10045664 |
NCBI chrNW_004936489:4,616,839...4,887,179
|
|
G |
Eys |
eyes shut homolog |
|
ISO |
ClinVar Annotator: match by term: Macular dystrophy |
ClinVar |
PMID:20237254 PMID:21069908 PMID:23105016 PMID:25097241 PMID:28492532 PMID:30718709 PMID:31074760 |
|
NCBI chrNW_004936476:158,391...1,289,639
|
|
G |
Fas |
Fas cell surface death receptor |
severity |
ISO |
protein:increased expression:choroid, epithelioid cell (human) |
RGD |
PMID:9488273 |
RGD:8662418 |
NCBI chrNW_004936735:209,369...234,582
|
|
G |
Fbln5 |
fibulin 5 |
|
ISO |
ClinVar Annotator: match by term: Macular degeneration |
ClinVar |
PMID:24033266 |
|
NCBI chrNW_004936733:136,374...200,106
|
|
G |
Flt1 |
fms related receptor tyrosine kinase 1 |
|
ISO |
|
RGD |
PMID:21731737 |
RGD:5684426 |
NCBI chrNW_004936472:23,442,946...23,617,523
|
|
G |
Fscn2 |
fascin actin-bundling protein 2, retinal |
|
ISO |
ClinVar Annotator: match by term: Macular degeneration |
ClinVar |
PMID:11527955 PMID:14609921 PMID:15994872 PMID:16280978 PMID:16799052 PMID:17251446 PMID:18450588 PMID:28492532 |
|
NCBI chrNW_004936594:5,184,133...5,195,340
|
|
G |
Gsr |
glutathione-disulfide reductase |
|
ISO |
protein:decreased expression:blood |
RGD |
PMID:7803358 |
RGD:10401825 |
NCBI chrNW_004936792:531,076...579,083
|
|
G |
Gstm3 |
glutathione S-transferase mu 3 |
|
ISO |
mRNA, protein:decreased expression:pigmented layer of retina (human) |
RGD |
PMID:22410570 |
RGD:12792247 |
NCBI chrNW_004936704:1,233,909...1,236,864
|
|
G |
Guca1a |
guanylate cyclase activator 1A |
|
ISO |
ClinVar Annotator: match by term: Macular dystrophy |
ClinVar |
PMID:9425234 PMID:9651312 PMID:9702199 PMID:11146732 PMID:15953638 PMID:28041643 PMID:28492532 PMID:30718709 |
|
NCBI chrNW_004936476:17,690,484...17,701,288
|
|
G |
Gucy2d |
guanylate cyclase 2D, retinal |
|
ISO |
ClinVar Annotator: match by term: Macular dystrophy |
ClinVar |
PMID:10676808 PMID:11115851 PMID:11565546 PMID:12552567 PMID:24875811 PMID:25741868 PMID:26298565 PMID:28041643 PMID:28492532 PMID:30718709 |
|
NCBI chrNW_004936595:1,235,747...1,250,294
|
|
G |
Hic1 |
HIC ZBTB transcriptional repressor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30742112 |
|
NCBI chrNW_004936538:8,122,557...8,126,157
|
|
G |
Hmcn1 |
hemicentin 1 |
|
ISO |
ClinVar Annotator: match by term: Macular degeneration |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936481:4,212,713...4,494,469
|
|
G |
Hspa8 |
heat shock protein family A (Hsp70) member 8 |
|
ISO |
mRNA: increased expression: white blood cells |
RGD |
PMID:19684010 |
RGD:6478714 |
NCBI chrNW_004936542:7,577,192...7,581,598
|
|
G |
Htra1 |
HtrA serine peptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Macular degeneration |
ClinVar |
PMID:18164066 PMID:18316707 PMID:26467025 PMID:27338780 PMID:28492532 |
|
NCBI chrNW_004936486:11,271,130...11,317,271
|
|
G |
Il17a |
interleukin 17A |
susceptibility |
ISO |
DNA:snps:promoter, 3' utr:c.-197G>A, c.*1249C>T (rs2275913, rs3748067) (human) protein:increased expression: serum (human) |
RGD |
PMID:21762495 PMID:25028103 |
RGD:9068445 RGD:9068453 |
NCBI chrNW_004936476:8,621,860...8,625,008
|
|
G |
Impg1 |
interphotoreceptor matrix proteoglycan 1 |
|
ISO |
ClinVar Annotator: match by term: Macular dystrophy |
ClinVar |
PMID:28041643 PMID:28492532 |
|
NCBI chrNW_004936788:1,258,547...1,401,910
|
|
G |
Impg2 |
interphotoreceptor matrix proteoglycan 2 |
|
ISO |
ClinVar Annotator: match by term: Macular dystrophy |
ClinVar |
PMID:20673862 PMID:24876279 PMID:28492532 PMID:30718709 |
|
NCBI chrNW_004936630:1,982,860...2,069,472
|
|
G |
Kdr |
kinase insert domain receptor |
treatment |
ISO |
DNA:SNPs:: rs4576072,rs6828477(human) |
RGD |
PMID:21731737 PMID:24365177 |
RGD:5684426 RGD:8549717 |
NCBI chrNW_004936482:17,537,697...17,581,320
|
|
G |
Mbd2 |
methyl-CpG binding domain protein 2 |
|
ISO |
|
RGD |
PMID:24939308 |
RGD:9588663 |
NCBI chrNW_004936497:9,512,350...9,619,250
|
|
G |
Mmp2 |
matrix metallopeptidase 2 |
no_association susceptibility |
ISO |
DNA:SNP:promoter:-1306C>T (rs243865) (human) DNA:silent mutation:cds:c.1380G>A (rs2287074) (human) |
RGD |
PMID:18359774 PMID:23536957 |
RGD:8657039 RGD:8657041 |
NCBI chrNW_004936475:7,801,356...7,825,831
|
|
G |
Mmp9 |
matrix metallopeptidase 9 |
severity |
ISO |
protein:increased expression:vitreous humor |
RGD |
PMID:22490043 PMID:22773904 |
RGD:10053644 RGD:7829793 |
NCBI chrNW_004936514:7,038,240...7,045,873
|
|
G |
Nfe2l2 |
nuclear factor, erythroid 2 like 2 |
|
ISO |
DNA:SNP, haplotype:intron:28312647A>G (rs6726395) (human) |
RGD |
PMID:21559389 PMID:23276910 |
RGD:10412682 RGD:7771558 |
NCBI chrNW_004936509:6,589,967...6,621,171
|
|
G |
Nmnat1 |
nicotinamide nucleotide adenylyltransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22842229 |
|
NCBI chrNW_004936623:3,862,234...3,891,849
|
|
G |
Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
|
ISO |
DNA:missense mutation, haplotype:cds:c.609C>T (rs1800566) (human) |
RGD |
PMID:23276910 |
RGD:7771558 |
NCBI chrNW_004936475:19,771,384...19,785,034
|
|
G |
Parp12 |
poly(ADP-ribose) polymerase family member 12 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30742112 |
|
NCBI chrNW_004936592:4,195,931...4,233,304
|
|
G |
Pde6b |
phosphodiesterase 6B |
|
ISO |
ClinVar Annotator: match by term: Macular dystrophy |
ClinVar |
PMID:25741868 |
|
NCBI chrNW_004936477:22,418,037...22,472,251
|
|
G |
Pon1 |
paraoxonase 1 |
no_association susceptibility |
ISO |
DNA:missense mutations:cds:p.L55M, p.Q192R (human) DNA:snps:promoter, 5' utr:multiple (human) protein:decreased activity:serum (human) DNA:missense mutations:cds:p.L55M, p.Q192R (rs662, rs854560) (human) |
RGD |
PMID:15488805 PMID:15774926 PMID:22956172 PMID:23432778 PMID:23538572 |
RGD:8547549 RGD:8547551 RGD:8547561 RGD:8547582 RGD:8547659 |
NCBI chrNW_004936585:4,954,871...4,979,560
|
|
G |
Ppargc1a |
PPARG coactivator 1 alpha |
|
ISO |
DNA:snps:exon, 3' utr:g.76874A>G, g.*2381A>G (rs3736265, rs3774923) (human) |
RGD |
PMID:23335958 |
RGD:7241840 |
NCBI chrNW_004936477:4,881,230...5,488,208
|
|
G |
Prom1 |
prominin 1 |
|
ISO |
ClinVar Annotator: match by term: Macular dystrophy |
ClinVar |
PMID:10205271 PMID:12657606 PMID:18654668 PMID:20393116 PMID:20859302 PMID:22183351 PMID:22581970 PMID:25356976 PMID:28041643 PMID:28492532 PMID:28559085 PMID:29847639 PMID:30718709 |
|
NCBI chrNW_004936477:11,878,261...12,017,228
|
|
G |
Prph2 |
peripherin 2 |
|
ISO |
DNA:polymorphism:cds:p.R172W(human) ClinVar Annotator: match by term: Macular dystrophy DNA:deletion:cds: |
RGD ClinVar |
PMID:8485576 PMID:9279751 PMID:9443872 PMID:12042139 PMID:14557182 PMID:16916875 PMID:17653047 PMID:19038374 PMID:19243827 PMID:20335603 PMID:21071739 PMID:25447119 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29555955 PMID:30718709 |
RGD:8553205 RGD:8553231 |
NCBI chrNW_004936476:17,159,756...17,174,226
|
|
G |
Rax2 |
retina and anterior neural fold homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Macular degeneration |
ClinVar |
|
|
NCBI chrNW_004936588:2,133,398...2,135,329
|
|
G |
Rdh12 |
retinol dehydrogenase 12 |
|
ISO |
ClinVar Annotator: match by term: Macular dystrophy |
ClinVar |
PMID:16269441 PMID:19011012 PMID:21151602 PMID:22065924 PMID:25412400 PMID:25494902 PMID:28492532 |
|
NCBI chrNW_004936495:11,111,247...11,121,976
|
|
G |
Rlbp1 |
retinaldehyde binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30742112 |
|
NCBI chrNW_004936483:15,086,485...15,097,980
|
|
G |
Rom1 |
retinal outer segment membrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Macular dystrophy |
ClinVar |
PMID:28492532 PMID:30718709 |
|
NCBI chrNW_004936581:642,322...644,286
|
|
G |
Rpgr |
retinitis pigmentosa GTPase regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Macular dystrophy |
CTD ClinVar |
PMID:12160730 PMID:28041643 |
|
NCBI chrNW_004936502:5,163,164...5,212,940
|
|
G |
Serpine1 |
serpin family E member 1 |
|
ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:17675241 |
RGD:8547755 |
NCBI chrNW_004936543:1,032,543...1,040,956
|
|
G |
Serpinf1 |
serpin family F member 1 |
|
ISO |
protein:decreased expression:optic choroid (human) mRNA:altered expression:retina (rat) |
RGD |
PMID:16019000 PMID:21191149 |
RGD:8554867 RGD:8655542 |
NCBI chrNW_004936538:7,885,816...7,898,308
|
|
G |
Serping1 |
serpin family G member 1 |
no_association susceptibility |
ISO |
DNA:SNPs: :multiple DNA:SNPs:introns:c.52-130C>T, c.1030-865C>T (rs1005510, rs2511989) (human) DNA:SNP, haplotype:intron:c.1030-865C>T (rs2511989) (human) DNA:SNP:intron:c.1029+312T>C (rs11603020) (human) |
RGD |
PMID:19169411 PMID:20576771 PMID:20606025 PMID:21526158 PMID:21852020 |
RGD:8661263 RGD:8661264 RGD:8661638 RGD:8661639 RGD:8661640 |
NCBI chrNW_004936581:4,911,403...4,924,484
|
|
G |
Sirt1 |
sirtuin 1 |
|
ISO |
mRNA:decreased expression:retina |
RGD |
PMID:21890195 |
RGD:9585773 |
NCBI chrNW_004936521:10,296,097...10,316,673
|
|
G |
Slc16a8 |
solute carrier family 16 member 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26691988 |
|
NCBI chrNW_004936492:3,090,624...3,096,462
|
|
G |
Slc19a1 |
solute carrier family 19 member 1 |
|
ISO |
ClinVar Annotator: match by term: Macular dystrophy |
ClinVar |
PMID:19390655 PMID:21862674 PMID:23667181 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29977801 |
|
NCBI chrNW_004936778:823,376...846,843
|
|
G |
Sod1 |
superoxide dismutase 1 |
susceptibility |
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:16844785 PMID:23848218 |
RGD:1581207 RGD:8655651 |
NCBI chrNW_004936500:10,345,154...10,352,873
|
|
G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
|
RGD |
PMID:17898259 |
RGD:8158047 |
NCBI chrNW_004936489:11,178,338...11,191,601
|
|
G |
Sqstm1 |
sequestosome 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23922739 |
|
NCBI chrNW_004936739:943,080...955,296
|
|
G |
Srsf10 |
serine and arginine rich splicing factor 10 |
|
ISO |
protein:increased expression:retina (human) |
RGD |
PMID:24098751 |
RGD:11038792 |
NCBI chrNW_004936474:9,068,012...9,079,717
|
|
G |
Timp3 |
TIMP metallopeptidase inhibitor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26691988 |
|
NCBI chrNW_004936492:6,996,627...7,046,137
|
|
G |
Tlr4 |
toll like receptor 4 |
no_association susceptibility |
ISO |
DNA:SNPs: :p.D299G,T399I(human) CTD Direct Evidence: marker/mechanism DNA:SNP:: rs4986790(human) DNA:polymorphism:exon:p.D299G(human) |
RGD CTD |
PMID:15829498 PMID:18172114 PMID:19628747 |
RGD:7794837 RGD:7794842 RGD:7794843 |
NCBI chrNW_004936487:6,519,140...6,532,018
|
|
G |
Tra2b |
transformer 2 beta homolog |
|
ISO |
protein:increased expression:retina (human) |
RGD |
PMID:24098751 |
RGD:11038792 |
NCBI chrNW_004936578:3,949,820...3,970,462
|
|
G |
Ttc8 |
tetratricopeptide repeat domain 8 |
|
ISO |
ClinVar Annotator: match by term: Macular dystrophy |
ClinVar |
PMID:25097241 PMID:25741868 PMID:28492532 PMID:30718709 |
|
NCBI chrNW_004936488:16,258,247...16,306,077
|
|
G |
Ush2a |
usherin |
|
ISO |
ClinVar Annotator: match by term: Macular degeneration |
ClinVar |
PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 PMID:12112664 PMID:14970843 PMID:15025721 PMID:15325563 PMID:15326663 PMID:17405132 PMID:18641288 PMID:19881469 PMID:20145675 PMID:20301515 PMID:22581970 PMID:24033266 PMID:24088041 PMID:24160897 PMID:24607488 PMID:25097241 PMID:25404053 PMID:25649381 PMID:25741868 PMID:26633545 PMID:26872967 PMID:28041643 PMID:28492532 PMID:29953849 PMID:30718709 |
|
NCBI chrNW_004936628:2,123,917...2,859,958
|
|
G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15788408 |
|
NCBI chrNW_004936476:16,245,134...16,261,180
|
|
G |
Zfyve26 |
zinc finger FYVE-type containing 26 |
|
ISO |
ClinVar Annotator: match by term: Macular dystrophy |
ClinVar |
PMID:16269441 PMID:19011012 PMID:21151602 PMID:25412400 PMID:25494902 PMID:28492532 |
|
NCBI chrNW_004936495:11,132,025...11,191,446
|
|
|
G |
Fbn2 |
fibrillin 2 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936504:1,535,629...1,757,386
|
|
|
G |
Mfsd8 |
major facilitator superfamily domain containing 8 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936642:2,745,889...2,833,286
|
|
|
G |
Apoh |
apolipoprotein H |
|
ISO |
associated with Proliferative Diabetic Retinopathy;protein:decreased expression:vitreous: |
RGD |
PMID:16080911 |
RGD:2315548 |
NCBI chrNW_004936541:6,683,483...6,695,094
|
|
G |
Clu |
clusterin |
|
ISO |
associated with Diabetes Mellitus, Type 2;protein:decreased expression:vitreous humor |
RGD |
PMID:23568601 |
RGD:9068396 |
NCBI chrNW_004936675:499,745...513,515
|
|
G |
Epo |
erythropoietin |
severity |
ISO |
|
RGD |
PMID:20664492 |
RGD:10400883 |
NCBI chrNW_004936543:742,722...745,332
|
|
G |
Fgf2 |
fibroblast growth factor 2 |
|
ISO |
associated with Diabetes Mellitus;protein:increased expression:aqueous humor |
RGD |
PMID:17505145 |
RGD:8655594 |
NCBI chrNW_004936662:1,886,176...1,928,998
|
|
G |
Flt1 |
fms related receptor tyrosine kinase 1 |
|
ISO |
associated with Branch Retinal Vein Occlusion; protein:increased expression:aqueous humor: |
RGD |
PMID:24894397 |
RGD:10402117 |
NCBI chrNW_004936472:23,442,946...23,617,523
|
|
G |
Kdr |
kinase insert domain receptor |
|
ISO |
associated with retinal vein occlusion;protein:increased expression:vitreous humor |
RGD |
PMID:23411880 |
RGD:8549772 |
NCBI chrNW_004936482:17,537,697...17,581,320
|
|
G |
Ndp |
norrin cystine knot growth factor NDP |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29654250 |
|
NCBI chrNW_004936502:10,080,169...10,105,155
|
|
G |
Nos3 |
nitric oxide synthase 3 |
susceptibility |
ISO |
associated with Diabetes Mellitus, Type 2;DNA:snp, duplication:promoter, intron:g.-786T>C, g.IVS4?-?+27 (human) |
RGD |
PMID:15333482 |
RGD:7775044 |
NCBI chrNW_004936527:6,427,147...6,445,770
|
|
G |
Serpinf1 |
serpin family F member 1 |
treatment |
ISO |
associated with Branch Retinal Vein Occlusion;protein:decreased expression:vitreous humor (human) associated with Diabetes Mellitus, Experimental; human protein in a rat model |
RGD |
PMID:20714746 PMID:21139695 |
RGD:8554903 RGD:8655546 |
NCBI chrNW_004936538:7,885,816...7,898,308
|
|
G |
Vegfa |
vascular endothelial growth factor A |
|
ISO |
associated with retinal vein occlusion;protein:increased expression:vitreous humor associated with Diabetes Mellitus;protein:increased expression:aqueous humor CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:17505145 PMID:20577866 PMID:23411880 |
RGD:8549772 RGD:8655594 |
NCBI chrNW_004936476:16,245,134...16,261,180
|
|
|
G |
Cwc27 |
CWC27 spliceosome associated cyclophilin |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936480:4,090,005...4,305,770
|
|
|
G |
Arl2 |
ADP ribosylation factor like GTPase 2 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936599:4,336,190...4,343,007
|
|
|
G |
Rlbp1 |
retinaldehyde binding protein 1 |
|
ISO |
|
OMIM |
|
|
NCBI chrNW_004936483:15,086,485...15,097,980
|
|
|
G |
|