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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:retinal degeneration
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Accession:DOID:8466 term browser browse the term
Definition:A retrogressive pathological change in the retina, focal or generalized, caused by genetic defects, inflammation, trauma, vascular disease, or aging. Degeneration affecting predominantly the macula lutea of the retina is MACULAR DEGENERATION. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p304)
Synonyms:exact_synonym: degeneration of retina;   retina degeneration;   retinal degenerations
 narrow_synonym: Generalized PRA;   PRA;   PRA 1;   PRA 2;   autosomal dominant PRA;   early retinal degeneration;   progressive retinal atrophy
 primary_id: MESH:D012162
 alt_id: OMIA:001297;   OMIA:001346;   OMIA:001521;   OMIA:001572;   OMIA:001984
 xref: NCI:C34979
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
retinal degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 JBrowse link
G Arg2 arginase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30618589 NCBI chrNW_004936495:11,004,296...11,045,467 JBrowse link
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 JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 severity ISO RGD PMID:23943788 RGD:11537379 NCBI chrNW_004936471:31,962,500...32,019,516 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
G Cfb complement factor B treatment ISO RGD PMID:21467172 RGD:7364947 NCBI chrNW_004936727:1,595,872...1,602,274 JBrowse link
G Clcn7 chloride voltage-gated channel 7 ISO RGD PMID:11207362 RGD:737783 NCBI chrNW_004936694:2,444,321...2,467,734 JBrowse link
G Clu clusterin treatment ISO RGD PMID:18085470 RGD:9068394 NCBI chrNW_004936675:499,745...513,515 JBrowse link
G Cp ceruloplasmin ISO CTD Direct Evidence: marker/mechanism CTD PMID:12572680 NCBI chrNW_004936519:6,431,156...6,473,183 JBrowse link
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 JBrowse link
G Dmd dystrophin disease_progression ISO RGD PMID:10359335 RGD:1300412 NCBI chrNW_004936553:7,157,526...7,943,703 JBrowse link
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 JBrowse link
G Epo erythropoietin treatment ISO RGD PMID:21421996 RGD:10400896 NCBI chrNW_004936543:742,722...745,332 JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:19799898 RGD:8694106 NCBI chrNW_004936495:7,956,168...8,018,356 JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: therapeutic CTD PMID:17935603 NCBI chrNW_004936518:4,291,391...4,310,752 JBrowse link
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 JBrowse link
G Hdac4 histone deacetylase 4 treatment ISO RGD PMID:19131628 RGD:9681456 NCBI chrNW_004936745:1,730,743...1,942,071 JBrowse link
G Hfe homeostatic iron regulator ISO RGD PMID:19715555 RGD:8694351 NCBI chrNW_004936671:1,940,079...1,947,574 JBrowse link
G Hgf hepatocyte growth factor treatment ISO RGD PMID:15505072 RGD:8548603 NCBI chrNW_004936734:354,798...428,356 JBrowse link
G Ift80 intraflagellar transport 80 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17468754 NCBI chrNW_004936708:238,302...362,537 JBrowse link
G Il6st interleukin 6 signal transducer ISO RGD PMID:19948961 RGD:10402848 NCBI chrNW_004936480:11,867,573...11,913,563 JBrowse link
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 JBrowse link
G Kcnj10 potassium inwardly rectifying channel subfamily J member 10 ISO RGD PMID:22055109 RGD:8662888 NCBI chrNW_004936740:555,948...589,219 JBrowse link
G LOC101956249 optineurin ISO RGD PMID:20388642 RGD:6480507 NCBI chrNW_004936862:488,591...516,819 JBrowse link
G Mertk MER proto-oncogene, tyrosine kinase treatment ISO RGD PMID:11592982 RGD:69668 NCBI chrNW_004936783:607,425...704,879 JBrowse link
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 JBrowse link
G Mt3 metallothionein 3 ISO RGD PMID:23132798 RGD:10412646 NCBI chrNW_004936475:8,864,512...8,866,516 JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842230 NCBI chrNW_004936623:3,862,234...3,891,849 JBrowse link
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 JBrowse link
G Nrl neural retina leucine zipper ISO CTD Direct Evidence: marker/mechanism CTD PMID:15591106 NCBI chrNW_004936722:448,006...454,064 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO RGD PMID:16943309 RGD:13524568 NCBI chrNW_004936905:76,781...128,995 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16269441 NCBI chrNW_004936495:11,111,247...11,121,976 JBrowse link
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 JBrowse link
G Ripk3 receptor interacting serine/threonine kinase 3 ISO RGD PMID:23954861 RGD:7777167 NCBI chrNW_004936722:209,019...212,817 JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO RGD PMID:10802659 RGD:8553197 NCBI chrNW_004936581:642,322...644,286 JBrowse link
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 JBrowse link
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 JBrowse link
G Rpgrip1l RPGRIP1 like ISO CTD Direct Evidence: marker/mechanism CTD PMID:19430481 NCBI chrNW_004936475:6,219,187...6,321,612 JBrowse link
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 JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28703795 NCBI chrNW_004936503:613,250...690,555 JBrowse link
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 JBrowse link
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 JBrowse link
G Tfpi2 tissue factor pathway inhibitor 2 ISO RGD PMID:15184935 RGD:11060273 NCBI chrNW_004936803:69,296...90,270 JBrowse link
G Wdr36 WD repeat domain 36 ISO DNA:deletion:cds: RGD PMID:20631153 RGD:8548464 NCBI chrNW_004936531:5,513,082...5,546,515 JBrowse link
age related macular degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 JBrowse link
age related macular degeneration 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO OMIM NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Hmcn1 hemicentin 1 ISO OMIM NCBI chrNW_004936481:4,212,713...4,494,469 JBrowse link
age related macular degeneration 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tlr4 toll like receptor 4 ISO OMIM NCBI chrNW_004936487:6,519,140...6,532,018 JBrowse link
age related macular degeneration 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO OMIM NCBI chrNW_004936473:28,508,726...28,535,640 JBrowse link
age related macular degeneration 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 JBrowse link
age related macular degeneration 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2 complement C2 ISO OMIM NCBI chrNW_004936727:1,602,400...1,615,974 JBrowse link
G Cfb complement factor B ISO OMIM NCBI chrNW_004936727:1,595,872...1,602,274 JBrowse link
age related macular degeneration 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 JBrowse link
Age Related Macular Degeneration 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbln5 fibulin 5 ISO OMIM NCBI chrNW_004936733:136,374...200,106 JBrowse link
age related macular degeneration 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 JBrowse link
age related macular degeneration 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rax2 retina and anterior neural fold homeobox 2 ISO OMIM NCBI chrNW_004936588:2,133,398...2,135,329 JBrowse link
age related macular degeneration 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO DNA:SNPs, haplotype: :multiple RGD PMID:19899988 RGD:7401252 NCBI chrNW_004936588:3,985,732...4,023,221 JBrowse link
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 JBrowse link
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 JBrowse link
age related macular degeneration 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO OMIM NCBI chrNW_004936588:3,985,732...4,023,221 JBrowse link
Alstrom syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 JBrowse link
Amaurosis Hypertrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 JBrowse link
autosomal dominant vitreoretinochoroidopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO OMIM NCBI chrNW_004936581:1,120,681...1,132,226 JBrowse link
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 JBrowse link
bestrophinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO OMIM NCBI chrNW_004936581:1,120,681...1,132,226 JBrowse link
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 JBrowse link
Bietti crystalline corneoretinal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101967774 cytochrome P450 4V2 ISO OMIM NCBI chrNW_004936554:3,272,139...3,293,288 JBrowse link
Bothnia retinal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rlbp1 retinaldehyde binding protein 1 ISO OMIM NCBI chrNW_004936483:15,086,485...15,097,980 JBrowse link
Boucher-Neuhauser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla6 patatin like phospholipase domain containing 6 ISO OMIM NCBI chrNW_004936588:4,608,856...4,632,198 JBrowse link
Choroideremia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chm CHM Rab escort protein ISO OMIM NCBI chrNW_004936547:6,368,941...6,533,199 JBrowse link
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 JBrowse link
Chromosome Xp11.3 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rp2 RP2 activator of ARL3 GTPase ISO OMIM NCBI chrNW_004936502:12,656,187...12,701,689 JBrowse link
Concentric Annular Macular Dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 JBrowse link
Cone Dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6c phosphodiesterase 6C ISO OMIM NCBI chrNW_004936601:1,343,538...1,393,605 JBrowse link
cone-rod dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd5 acyl-CoA binding domain containing 5 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:28492532 NCBI chrNW_004936484:2,224,308...2,268,302 JBrowse link
G Adam9 ADAM metallopeptidase domain 9 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 NCBI chrNW_004936710:2,301,470...2,388,533 JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 NCBI chrNW_004936581:1,120,681...1,132,226 JBrowse link
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 NCBI chrNW_004936599:2,295,124...2,299,558 JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:28492532 PMID:30718709 NCBI chrNW_004936721:1,078,570...1,106,153 JBrowse link
G Cdhr1 cadherin related family member 1 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 NCBI chrNW_004936767:805,910...829,838 JBrowse link
G Cep290 centrosomal protein 290 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 NCBI chrNW_004936507:5,223,756...5,305,392 JBrowse link
G Cerkl ceramide kinase like 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 NCBI chrNW_004936509:10,294,247...10,404,743 JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chrNW_004936501:11,955,334...11,967,338 JBrowse link
G Cnga1 cyclic nucleotide gated channel subunit alpha 1 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 NCBI chrNW_004936482:14,091,343...14,107,793 JBrowse link
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 NCBI chrNW_004936744:1,499,431...1,537,784 JBrowse link
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 NCBI chrNW_004936544:1,166,896...1,305,339 JBrowse link
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 JBrowse link
G CUNH12orf29 chromosome unknown C12orf29 homolog ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:30193310 NCBI chrNW_004936507:5,210,561...5,223,320 JBrowse link
G CUNH8orf37 chromosome unknown C8orf37 homolog ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar NCBI chrNW_004936544:8,170,841...8,192,896 JBrowse link
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 NCBI chrNW_004936491:7,202,877...7,221,493 JBrowse link
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 NCBI chrNW_004936476:17,690,484...17,701,288 JBrowse link
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 NCBI chrNW_004936595:1,235,747...1,250,294 JBrowse link
G Itga4 integrin subunit alpha 4 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:25741868 NCBI chrNW_004936509:10,215,283...10,293,653 JBrowse link
G Lrat lecithin retinol acyltransferase ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 NCBI chrNW_004936576:1,491,480...1,498,568 JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chrNW_004936623:3,862,234...3,891,849 JBrowse link
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 NCBI chrNW_004936471:31,229,322...31,236,093 JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar NCBI chrNW_004936485:14,785,050...14,804,258 JBrowse link
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 NCBI chrNW_004936477:22,418,037...22,472,251 JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar NCBI chrNW_004936601:1,343,538...1,393,605 JBrowse link
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 NCBI chrNW_004936560:4,237,691...4,302,655 JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant ClinVar PMID:28492532 NCBI chrNW_004936677:1,451,974...1,528,864 JBrowse link
G Poc1b POC1 centriolar protein B ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chrNW_004936507:6,375,009...6,457,034 JBrowse link
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 NCBI chrNW_004936477:11,878,261...12,017,228 JBrowse link
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 NCBI chrNW_004936476:17,159,756...17,174,226 JBrowse link
G Rab28 RAB28, member RAS oncogene family ISO ClinVar Annotator: match by term: Cone-rod degeneration ClinVar PMID:23746546 NCBI chrNW_004936477:14,066,063...14,140,310 JBrowse link
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 JBrowse link
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 NCBI chrNW_004936495:11,111,247...11,121,976 JBrowse link
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 NCBI chrNW_004936602:896,730...901,480 JBrowse link
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 JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar NCBI chrNW_004936591:3,347,346...3,368,062 JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:30718709 NCBI chrNW_004936502:5,163,164...5,212,940 JBrowse link
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 JBrowse link
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 JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar NCBI chrNW_004936580:5,404,380...5,431,183 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
cone-rod dystrophy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sema4a semaphorin 4A ISO OMIM NCBI chrNW_004936580:5,404,380...5,431,183 JBrowse link
cone-rod dystrophy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rax2 retina and anterior neural fold homeobox 2 ISO OMIM NCBI chrNW_004936588:2,133,398...2,135,329 JBrowse link
cone-rod dystrophy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prom1 prominin 1 ISO OMIM NCBI chrNW_004936477:11,878,261...12,017,228 JBrowse link
cone-rod dystrophy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgrip1 RPGR interacting protein 1 ISO OMIM NCBI chrNW_004936880:440,900...511,503 JBrowse link
cone-rod dystrophy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 JBrowse link
G Guca1a guanylate cyclase activator 1A ISO OMIM NCBI chrNW_004936476:17,690,484...17,701,288 JBrowse link
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 JBrowse link
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 JBrowse link
G Pde6h phosphodiesterase 6H ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar NCBI chrNW_004936587:2,505,755...2,514,103 JBrowse link
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 JBrowse link
cone-rod dystrophy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdhr1 cadherin related family member 1 ISO OMIM NCBI chrNW_004936767:805,910...829,838 JBrowse link
cone-rod dystrophy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH8orf37 chromosome unknown C8orf37 homolog ISO OMIM NCBI chrNW_004936544:8,170,841...8,192,896 JBrowse link
cone-rod dystrophy 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab28 RAB28, member RAS oncogene family ISO OMIM NCBI chrNW_004936477:14,066,063...14,140,310 JBrowse link
cone-rod dystrophy 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttll5 tubulin tyrosine ligase like 5 ISO OMIM NCBI chrNW_004936488:4,723,314...4,983,926 JBrowse link
cone-rod dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 JBrowse link
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 JBrowse link
cone-rod dystrophy 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Poc1b POC1 centriolar protein B ISO OMIM NCBI chrNW_004936507:6,375,009...6,457,034 JBrowse link
Cone-Rod Dystrophy 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dram2 DNA damage regulated autophagy modulator 2 ISO OMIM NCBI chrNW_004936704:2,488,370...2,513,042 JBrowse link
cone-rod dystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 JBrowse link
G Pitpnm3 PITPNM family member 3 ISO OMIM NCBI chrNW_004936677:1,451,974...1,528,864 JBrowse link
cone-rod dystrophy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar NCBI chrNW_004936581:1,120,681...1,132,226 JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO OMIM NCBI chrNW_004936595:1,235,747...1,250,294 JBrowse link
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 JBrowse link
cone-rod dystrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rims1 regulating synaptic membrane exocytosis 1 ISO OMIM NCBI chrNW_004936618:3,678,400...4,047,994 JBrowse link
cone-rod dystrophy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam9 ADAM metallopeptidase domain 9 ISO OMIM NCBI chrNW_004936710:2,301,470...2,388,533 JBrowse link
G Tm2d2 TM2 domain containing 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 9 ClinVar NCBI chrNW_004936710:2,298,233...2,301,239 JBrowse link
Cone-Rod Dystrophy and Hearing Loss 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep250 centrosomal protein 250 ISO OMIM NCBI chrNW_004936561:5,283,258...5,331,688 JBrowse link
CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rims2 regulating synaptic membrane exocytosis 2 ISO OMIM NCBI chrNW_004936470:39,725,092...40,270,268 JBrowse link
congenital hypotrichosis with juvenile macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh3 cadherin 3 ISO OMIM NCBI chrNW_004936475:18,908,031...18,954,402 JBrowse link
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps13b vacuolar protein sorting 13 homolog B 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 NCBI chrNW_004936470:43,281,905...43,952,523 JBrowse link
Doyne honeycomb retinal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO OMIM NCBI chrNW_004936491:2,159,654...2,214,480 JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Doyne honeycomb degeneration of retina ClinVar PMID:11139241 PMID:25675413 PMID:25741868 PMID:26842753 PMID:28492532 NCBI chrNW_004936476:17,159,756...17,174,226 JBrowse link
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh3 cadherin 3 ISO OMIM NCBI chrNW_004936475:18,908,031...18,954,402 JBrowse link
enhanced S-cone syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr2e3 nuclear receptor subfamily 2 group E member 3 ISO OMIM NCBI chrNW_004936471:31,229,322...31,236,093 JBrowse link
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Enhanced s-cone syndrome ClinVar PMID:27732723 NCBI chrNW_004936722:448,006...454,064 JBrowse link
G Prph2 peripherin 2 ISO RGD PMID:23650562 RGD:8554862 NCBI chrNW_004936476:17,159,756...17,174,226 JBrowse link
fundus albipunctatus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prph2 peripherin 2 ISO OMIM NCBI chrNW_004936476:17,159,756...17,174,226 JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO OMIM NCBI chrNW_004936646:191,136...195,279 JBrowse link
G Rho rhodopsin ISO OMIM NCBI chrNW_004936602:896,730...901,480 JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO OMIM NCBI chrNW_004936483:15,086,485...15,097,980 JBrowse link
fundus dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd12 abhydrolase domain containing 12, lysophospholipase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:22938382 PMID:28041643 NCBI chrNW_004936620:451,216...531,353 JBrowse link
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936492:407,482...452,538 JBrowse link
G Adgra3 adhesion G protein-coupled receptor A3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936477:6,531,506...6,637,628 JBrowse link
G Adgrv1 adhesion G protein-coupled receptor V1 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 NCBI chrNW_004936469:8,653,031...9,209,840 JBrowse link
G Agbl5 ATP/GTP binding protein like 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chrNW_004936493:5,470,623...5,488,542 JBrowse link
G Ahi1 Abelson helper integration site 1 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 NCBI chrNW_004936560:2,881,631...3,057,256 JBrowse link
G Aipl1 aryl hydrocarbon receptor interacting protein like 1 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 NCBI chrNW_004936677:1,539,502...1,548,343 JBrowse link
G Alms1 ALMS1 centrosome and basal body associated protein 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 NCBI chrNW_004936491:17,152,759...17,342,648 JBrowse link
G Arl2bp ADP ribosylation factor like GTPase 2 binding protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28041643 NCBI chrNW_004936475:9,343,333...9,352,089 JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 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 NCBI chrNW_004936599:3,059,274...3,076,853 JBrowse link
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 NCBI chrNW_004936568:4,640,611...4,644,627 JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 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 NCBI chrNW_004936662:1,822,727...1,832,403 JBrowse link
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 NCBI chrNW_004936475:8,785,914...8,810,490 JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11381270 PMID:27208204 PMID:28492532 NCBI chrNW_004936471:31,962,500...32,019,516 JBrowse link
G Bbs5 Bardet-Biedl syndrome 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15137946 PMID:21209035 PMID:25741868 PMID:28492532 NCBI chrNW_004936509:25,263...45,113 JBrowse link
G Bbs7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936662:1,081,237...1,116,719 JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:20177705 PMID:28492532 NCBI chrNW_004936478:8,959,198...9,408,683 JBrowse link
G Best1 bestrophin 1 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 NCBI chrNW_004936581:1,120,681...1,132,226 JBrowse link
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 NCBI chrNW_004936542:4,269,636...4,271,497 JBrowse link
G Ca4 carbonic anhydrase 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:30718709 NCBI chrNW_004936490:1,764,845...1,773,752 JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28041643 PMID:28492532 PMID:30718709 NCBI chrNW_004936599:2,295,124...2,299,558 JBrowse link
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 NCBI chrNW_004936721:1,078,570...1,106,153 JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chrNW_004936606:2,011,454...2,118,255 JBrowse link
G Capn5 calpain 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936498:5,692,910...5,747,329 JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936477:12,315,829...12,415,915 JBrowse link
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 NCBI chrNW_004936521:7,078,874...7,285,361 JBrowse link
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936475:18,908,031...18,954,402 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 NCBI chrNW_004936744:1,499,431...1,537,784 JBrowse link
G Cngb1 cyclic nucleotide gated channel subunit beta 1 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 NCBI chrNW_004936475:9,844,438...9,908,009 JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 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 NCBI chrNW_004936544:1,166,896...1,305,339 JBrowse link
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936744:715,523...754,148 JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936476:25,663,563...25,692,315 JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain 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_004936778:847,473...943,038 JBrowse link
G Col2a1 collagen type II alpha 1 chain 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 NCBI chrNW_004936512:5,861,933...5,894,898 JBrowse link
G Crb1 crumbs cell polarity complex component 1 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 NCBI chrNW_004936567:6,347,661...6,559,731 JBrowse link
G Ctnna1 catenin alpha 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28041643 PMID:28492532 NCBI chrNW_004936531:7,865,907...8,036,020 JBrowse link
G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24033266 PMID:28492532 NCBI chrNW_004936521:7,095,044...7,095,497 JBrowse link
G CUNH12orf29 chromosome unknown C12orf29 homolog ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936507:5,210,561...5,223,320 JBrowse link
G CUNH8orf37 chromosome unknown C8orf37 homolog ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936544:8,170,841...8,192,896 JBrowse link
G Cwc27 CWC27 spliceosome associated cyclophilin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chrNW_004936480:4,090,005...4,305,770 JBrowse link
G Cygb cytoglobin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:20507925 PMID:25741868 NCBI chrNW_004936594:1,602,436...1,613,783 JBrowse link
G Dram2 DNA damage regulated autophagy modulator 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25983245 PMID:28492532 NCBI chrNW_004936704:2,488,370...2,513,042 JBrowse link
G Dthd1 death domain containing 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936482:4,603,473...4,661,598 JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 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 NCBI chrNW_004936491:2,159,654...2,214,480 JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11138005 PMID:15028284 PMID:23509295 PMID:24833735 PMID:28492532 NCBI chrNW_004936510:10,246,901...10,276,049 JBrowse link
G Eys eyes shut homolog 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 NCBI chrNW_004936476:158,391...1,289,639 JBrowse link
G Fam161a FAM161 centrosomal protein A 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 NCBI chrNW_004936491:7,202,877...7,221,493 JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936733:136,374...200,106 JBrowse link
G Flvcr1 FLVCR heme transporter 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:23591405 PMID:25741868 PMID:27353947 PMID:28492532 NCBI chrNW_004936557:693,445...727,166 JBrowse link
G Frmd7 FERM domain containing 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936691:2,664,968...2,756,300 JBrowse link
G Fzd4 frizzled class receptor 4 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_004936498:14,657,641...14,666,853 JBrowse link
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chrNW_004936803:1,348,238...1,361,566 JBrowse link
G Gigyf2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936525:4,301,003...4,432,125 JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936529:1,735,258...1,740,297 JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936704:1,079,255...1,093,732 JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:22325361 PMID:22325362 PMID:24033266 PMID:28041643 NCBI chrNW_004936490:13,801,514...13,818,666 JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11874764 PMID:15781871 PMID:19862333 PMID:22735794 PMID:25741868 PMID:28492532 PMID:30718709 NCBI chrNW_004936739:1,726,382...1,742,937 JBrowse link
G Guca1a guanylate cyclase activator 1A 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 NCBI chrNW_004936476:17,690,484...17,701,288 JBrowse link
G Gucy2d guanylate cyclase 2D, retinal 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 NCBI chrNW_004936595:1,235,747...1,250,294 JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chrNW_004936531:9,610,335...9,625,203 JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase 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 NCBI chrNW_004936570:257,636...297,797 JBrowse link
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25190649 PMID:25316723 PMID:25741868 PMID:26427411 PMID:28492532 PMID:28765615 NCBI chrNW_004936521:9,067,062...9,139,112 JBrowse link
G Ift140 intraflagellar transport 140 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 NCBI chrNW_004936694:2,344,448...2,419,396 JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 PMID:28559085 NCBI chrNW_004936493:5,108,437...5,145,160 JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chrNW_004936479:15,523,342...15,540,229 JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:23993198 PMID:28492532 PMID:30688845 NCBI chrNW_004936788:1,258,547...1,401,910 JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 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 NCBI chrNW_004936630:1,982,860...2,069,472 JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E 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 NCBI chrNW_004936669:1,377,005...1,385,287 JBrowse link
G Iqcb1 IQ motif containing B1 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 NCBI chrNW_004936536:8,164,120...8,213,690 JBrowse link
G Itga4 integrin subunit alpha 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936509:10,215,283...10,293,653 JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936485:8,857,688...8,894,270 JBrowse link
G Kcnj13 potassium inwardly rectifying channel subfamily J member 13 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936525:4,361,755...4,374,130 JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 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 NCBI chrNW_004936503:2,320,570...2,332,833 JBrowse link
G Kiaa0586 KIAA0586 ortholog 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 NCBI chrNW_004936495:2,799,738...2,933,157 JBrowse link
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 PMID:30452590 NCBI chrNW_004936601:2,163,316...2,213,674 JBrowse link
G Kiz kizuna centrosomal protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24680887 PMID:28492532 PMID:28837078 PMID:29057815 PMID:31556760 PMID:32052671 NCBI chrNW_004936620:4,188,350...4,310,708 JBrowse link
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 NCBI chrNW_004936478:279,580...337,655 JBrowse link
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 NCBI chrNW_004936510:10,652,378...10,702,761 JBrowse link
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 NCBI chrNW_004936910:233,800...602,145 JBrowse link
G LOC101967774 cytochrome P450 4V2 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 NCBI chrNW_004936554:3,272,139...3,293,288 JBrowse link
G Lrat lecithin retinol acyltransferase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936576:1,491,480...1,498,568 JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28041643 NCBI chrNW_004936469:10,245,001...10,438,933 JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16252235 PMID:27208204 PMID:28492532 PMID:30452590 NCBI chrNW_004936599:1,746,309...1,814,471 JBrowse link
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 JBrowse link
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 JBrowse link
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 NCBI chrNW_004936542:4,272,250...4,277,231 JBrowse link
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 NCBI chrNW_004936642:2,745,889...2,833,286 JBrowse link
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 NCBI chrNW_004936485:9,089,118...9,114,396 JBrowse link
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 NCBI chrNW_004936474:26,636,277...26,641,486 JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15457465 NCBI chrNW_004936769:1,274,595...1,295,186 JBrowse link
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 NCBI chrNW_004936498:5,758,572...5,824,526 JBrowse link
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 NCBI chrNW_004936623:3,862,234...3,891,849 JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15776426 PMID:21068128 PMID:21546380 PMID:25741868 PMID:28492532 NCBI chrNW_004936623:802,152...904,198 JBrowse link
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 NCBI chrNW_004936471:31,229,322...31,236,093 JBrowse link
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11385710 PMID:17335001 PMID:21981118 PMID:22334370 PMID:28492532 PMID:29385733 NCBI chrNW_004936722:448,006...454,064 JBrowse link
G Nyx nyctalopin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11062471 PMID:19578023 PMID:25741868 PMID:28492532 NCBI chrNW_004936502:7,890,582...7,909,157 JBrowse link
G Oat ornithine aminotransferase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1609808 PMID:1737786 PMID:3339136 PMID:22674428 PMID:28492532 NCBI chrNW_004936486:12,723,363...12,743,367 JBrowse link
G Ofd1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936470:3,292,961...3,331,915 JBrowse link
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 NCBI chrNW_004936711:1,027,531...1,113,796 JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:17541950 NCBI chrNW_004936495:1,433,124...1,449,409 JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28041643 PMID:28492532 NCBI chrNW_004936600:4,850,594...4,939,010 JBrowse link
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 NCBI chrNW_004936493:3,768,032...3,781,511 JBrowse link
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 NCBI chrNW_004936504:5,018,171...5,088,333 JBrowse link
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 NCBI chrNW_004936477:22,418,037...22,472,251 JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chrNW_004936601:1,343,538...1,393,605 JBrowse link
G Pde6g phosphodiesterase 6G ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936594:5,263,345...5,267,240 JBrowse link
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 NCBI chrNW_004936803:1,291,867...1,340,123 JBrowse link
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 NCBI chrNW_004936476:16,948,137...16,963,601 JBrowse link
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 NCBI chrNW_004936476:1,295,697...1,380,608 JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936677:1,451,974...1,528,864 JBrowse link
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 JBrowse link
G Poc1b POC1 centriolar protein B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936507:6,375,009...6,457,034 JBrowse link
G Prcd photoreceptor disc component ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:20507925 PMID:25741868 NCBI chrNW_004936594:1,615,165...1,628,455 JBrowse link
G Prdm13 PR/SET domain 13 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936651:1,199,928...1,208,697 JBrowse link
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 NCBI chrNW_004936477:11,878,261...12,017,228 JBrowse link
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 NCBI chrNW_004936580:604,709...632,788 JBrowse link
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 JBrowse link
G Prpf4 pre-mRNA processing factor 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chrNW_004936559:305,443...321,051 JBrowse link
G Prpf6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25356976 PMID:28492532 NCBI chrNW_004936514:11,175,410...11,220,928 JBrowse link
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 NCBI chrNW_004936538:7,780,022...7,814,575 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936646:191,136...195,279 JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936588:800,492...804,769 JBrowse link
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 JBrowse link
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 JBrowse link
G Ric3 RIC3 acetylcholine receptor chaperone ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936528:9,790,594...9,829,120 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 NCBI chrNW_004936496:1,396,838...1,411,082 JBrowse link
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 NCBI chrNW_004936675:2,527,406...2,564,464 JBrowse link
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 JBrowse link
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 NCBI chrNW_004936591:3,347,346...3,368,062 JBrowse link
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 NCBI chrNW_004936502:5,163,164...5,212,940 JBrowse link
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 JBrowse link
G Rpgrip1l RPGRIP1 like ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936475:6,219,187...6,321,612 JBrowse link
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 NCBI chrNW_004936844:284,938...314,524 JBrowse link
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 NCBI chrNW_004936525:3,932,118...3,965,651 JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:26103963 PMID:28492532 NCBI chrNW_004936580:5,404,380...5,431,183 JBrowse link
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 JBrowse link
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 JBrowse link
G Slc7a14 solute carrier family 7 member 14 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chrNW_004936593:1,938,392...2,045,639 JBrowse link
G Spata7 spermatogenesis associated 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:21310915 PMID:22136677 PMID:25133751 PMID:25412400 PMID:29411205 NCBI chrNW_004936488:15,878,167...15,911,301 JBrowse link
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 JBrowse link
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 NCBI chrNW_004936492:6,996,627...7,046,137 JBrowse link
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 JBrowse link
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 JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936605:4,265,475...4,338,518 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
G Tub TUB bipartite transcription factor ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936528:9,829,889...9,912,645 JBrowse link
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 JBrowse link
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 NCBI chrNW_004936528:1,552,175...1,594,740 JBrowse link
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 NCBI chrNW_004936628:2,123,917...2,859,958 JBrowse link
G Vcan versican ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16043844 PMID:16877430 PMID:21738396 PMID:22739342 NCBI chrNW_004936469:2,585,142...2,688,029 JBrowse link
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 JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:26489029 PMID:28492532 NCBI chrNW_004936482:6,863,592...6,937,810 JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24033266 PMID:28492532 NCBI chrNW_004936487:3,668,465...3,748,234 JBrowse link
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 NCBI chrNW_004936599:3,047,011...3,054,512 JBrowse link
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 JBrowse link
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 JBrowse link
G Znf513 zinc finger protein 513 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936493:5,203,926...5,207,031 JBrowse link
Geographic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 JBrowse link
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 JBrowse link
G Ppp2r3c protein phosphatase 2 regulatory subunit B''gamma ISO OMIM NCBI chrNW_004936494:9,247,600...9,283,019 JBrowse link
hereditary spastic paraplegia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfyve26 zinc finger FYVE-type containing 26 ISO OMIM NCBI chrNW_004936495:11,132,025...11,191,446 JBrowse link
High Myopia with Cataract and Vitreoretinal Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P3h2 prolyl 3-hydroxylase 2 ISO OMIM NCBI chrNW_004936578:268,815...431,123 JBrowse link
Hyaloideoretinal Degeneration of Wagner term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 JBrowse link
G Vcan versican ISO OMIM NCBI chrNW_004936469:2,585,142...2,688,029 JBrowse link
infantile cerebellar-retinal degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO OMIM NCBI chrNW_004936492:407,482...452,538 JBrowse link
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 JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scaper S-phase cyclin A associated protein in the ER ISO OMIM NCBI chrNW_004936471:35,414,507...35,834,438 JBrowse link
isolated microphthalmia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 JBrowse link
G Mfrp membrane frizzled-related protein ISO OMIM NCBI chrNW_004936542:4,272,250...4,277,231 JBrowse link
Jalili syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO OMIM NCBI chrNW_004936744:715,523...754,148 JBrowse link
Joubert syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 JBrowse link
G Nphp4 nephrocystin 4 ISO DNA:mutations:exon, intron:multiple RGD PMID:15776426 RGD:11068164 NCBI chrNW_004936623:802,152...904,198 JBrowse link
Kearns-Sayre syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chrNW_004936783:1,210,715...1,218,315 JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chrNW_004936783:1,251,678...1,256,807 JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO RGD PMID:23406886 RGD:7241824 NCBI chrNW_004936477:4,881,230...5,488,208 JBrowse link
Kuhnt-Junius degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa5 annexin A5 ISO mRNA:increased expression:white blood cell: RGD PMID:19684010 RGD:6478714 NCBI chrNW_004936662:926,302...959,964 JBrowse link
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 JBrowse link
G C3 complement C3 ISO DNA:SNP: :rs2241394 (human) RGD PMID:22174912 RGD:7401249 NCBI chrNW_004936588:3,985,732...4,023,221 JBrowse link
G Cfi complement factor I ISO DNA:SNPs: :rs10033900, rs13117504 (human) RGD PMID:23900096 RGD:8662315 NCBI chrNW_004936563:960,883...998,136 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:23341606 RGD:10412675 NCBI chrNW_004936728:1,775,746...1,893,895 JBrowse link
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 JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:rs1801133(human) RGD PMID:22065928 RGD:7387224 NCBI chrNW_004936474:623,438...637,849 JBrowse link
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 JBrowse link
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 JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO RGD PMID:22773904 RGD:10053644 NCBI chrNW_004936504:4,762,251...4,799,789 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
late-onset retinal degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qtnf5 C1q and TNF related 5 ISO OMIM NCBI chrNW_004936542:4,269,636...4,271,497 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
Leber congenital amaurosis 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrat lecithin retinol acyltransferase ISO OMIM NCBI chrNW_004936576:1,491,480...1,498,568 JBrowse link
Leber congenital amaurosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spata7 spermatogenesis associated 7 ISO OMIM NCBI chrNW_004936488:15,878,167...15,911,301 JBrowse link
macular degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 JBrowse link
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 JBrowse link
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 JBrowse link
G Bax BCL2 associated X, apoptosis regulator ISO RGD PMID:20054800 RGD:10043353 NCBI chrNW_004936664:2,968,103...2,973,652 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
G C9 complement C9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24036952 NCBI chrNW_004936518:2,947,956...2,994,892 JBrowse link
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 JBrowse link
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 JBrowse link
G Cd36 CD36 molecule ISO RGD PMID:18288886 RGD:2307226 NCBI chrNW_004936810:791,823...838,303 JBrowse link
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 JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO RGD PMID:20054800 RGD:10043353 NCBI chrNW_004936476:22,717,308...22,725,127 JBrowse link
G Cdkn1b cyclin dependent kinase inhibitor 1B ISO RGD PMID:20054800 RGD:10043353 NCBI chrNW_004936587:4,573,166...4,578,480 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
G Cryab crystallin alpha B treatment ISO RGD PMID:25483086 RGD:13503350 NCBI chrNW_004936612:2,532,851...2,536,473 JBrowse link
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 JBrowse link
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 JBrowse link
G Eln elastin ISO protein:increased expression:serum: RGD PMID:16123400 RGD:9585737 NCBI chrNW_004936543:3,135,169...3,165,023 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:24033266 NCBI chrNW_004936733:136,374...200,106 JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 ISO RGD PMID:21731737 RGD:5684426 NCBI chrNW_004936472:23,442,946...23,617,523 JBrowse link
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 JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:decreased expression:blood RGD PMID:7803358 RGD:10401825 NCBI chrNW_004936792:531,076...579,083 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
G Hmcn1 hemicentin 1 ISO ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:28492532 NCBI chrNW_004936481:4,212,713...4,494,469 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
G Mbd2 methyl-CpG binding domain protein 2 ISO RGD PMID:24939308 RGD:9588663 NCBI chrNW_004936497:9,512,350...9,619,250 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22842229 NCBI chrNW_004936623:3,862,234...3,891,849 JBrowse link
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 JBrowse link
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 JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 NCBI chrNW_004936477:22,418,037...22,472,251 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30742112 NCBI chrNW_004936483:15,086,485...15,097,980 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
G Sirt1 sirtuin 1 ISO mRNA:decreased expression:retina RGD PMID:21890195 RGD:9585773 NCBI chrNW_004936521:10,296,097...10,316,673 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:17898259 RGD:8158047 NCBI chrNW_004936489:11,178,338...11,191,601 JBrowse link
G Sqstm1 sequestosome 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23922739 NCBI chrNW_004936739:943,080...955,296 JBrowse link
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 JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691988 NCBI chrNW_004936492:6,996,627...7,046,137 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
Macular Degeneration, Early-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn2 fibrillin 2 ISO OMIM NCBI chrNW_004936504:1,535,629...1,757,386 JBrowse link
Macular Dystrophy with Central Cone Involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfsd8 major facilitator superfamily domain containing 8 ISO OMIM NCBI chrNW_004936642:2,745,889...2,833,286 JBrowse link
macular retinal edema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 JBrowse link
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 JBrowse link
G Epo erythropoietin severity ISO RGD PMID:20664492 RGD:10400883 NCBI chrNW_004936543:742,722...745,332 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
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 JBrowse link
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cwc27 CWC27 spliceosome associated cyclophilin ISO OMIM NCBI chrNW_004936480:4,090,005...4,305,770 JBrowse link
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl2 ADP ribosylation factor like GTPase 2 ISO OMIM NCBI chrNW_004936599:4,336,190...4,343,007 JBrowse link
Newfoundland cone-rod dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rlbp1 retinaldehyde binding protein 1 ISO OMIM NCBI chrNW_004936483:15,086,485...15,097,980 JBrowse link
occult macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G