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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 disease
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Accession:DOID:5679 term browser browse the term
Definition:Diseases involving the RETINA.
Synonyms:exact_synonym: retinal diseases
 primary_id: MESH:D012164;   RDO:0000284
 xref: ICD10CM:H35.9;   ICD9CM:362.9;   NCI:C26875;   NCI:C62601
For additional species annotation, visit the Alliance of Genome Resources.


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retinal disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO RGD PMID:18412635 RGD:9588533 NCBI chrNW_004936530:7,543,743...7,621,392 JBrowse link
G Apoe apolipoprotein E susceptibility ISO RGD PMID:17562993 RGD:7495760 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:18836575 RGD:5490154 NCBI chrNW_004936550:5,931,201...5,943,999 JBrowse link
G Atxn1 ataxin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28182653 NCBI chrNW_004936552:2,498,711...2,521,225 JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Retinal disease ClinVar PMID:30311386 NCBI chrNW_004936721:1,078,570...1,106,153 JBrowse link
G Casp3 caspase 3 ISO protein:increased expression:retina RGD PMID:18836575 RGD:5490154 NCBI chrNW_004936554:4,571,072...4,593,765 JBrowse link
G Cat catalase treatment ISO associated with radiation injuries;protein:decreased activity:retina: RGD PMID:17514533 RGD:9107626 NCBI chrNW_004936533:3,601,270...3,637,128 JBrowse link
G Cdh23 cadherin related 23 ISO RGD PMID:14609561 RGD:8662280 NCBI chrNW_004936521:7,078,874...7,285,361 JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Retinal disease ClinVar PMID:17345604, PMID:17564967, PMID:20683928, PMID:23188109, PMID:25741868, PMID:25920555, PMID:26092869, PMID:28492532, PMID:28497568, PMID:28829391, PMID:29398085, PMID:30311386 NCBI chrNW_004936507:5,223,756...5,305,392 JBrowse link
G Chat choline O-acetyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23075401 NCBI chrNW_004936728:653,654...702,433 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Retinal disease ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16909383 NCBI chrNW_004936618:2,176,328...2,260,000 JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO RGD PMID:14608355 RGD:734934 NCBI chrNW_004936508:5,855,748...5,938,879 JBrowse link
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO RGD PMID:17145777 RGD:10401109 NCBI chrNW_004936480:7,560,055...7,609,650 JBrowse link
G Fzd4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chrNW_004936498:14,657,641...14,666,853 JBrowse link
G Gfap glial fibrillary acidic protein ISO protein:increased expression:retina RGD PMID:18836575 RGD:5490154 NCBI chrNW_004936541:1,265,915...1,275,232 JBrowse link
G Grk1 G protein-coupled receptor kinase 1 ISO mRNA, protein:decreased expression:retina RGD PMID:10549637 RGD:1600004 NCBI chrNW_004936472:152,202...165,134 JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23075401 NCBI chrNW_004936492:5,042,353...5,049,216 JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19324842 NCBI chrNW_004936659:616,570...627,172 JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:21273540, PMID:23720065 RGD:7364808, RGD:7364850 NCBI chrNW_004936557:5,834,874...5,838,502 JBrowse link
G Map2k3 mitogen-activated protein kinase kinase 3 treatment ISO RGD PMID:16805832 RGD:7495810 NCBI chrNW_004936741:362,682...386,633 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23075401 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO RGD PMID:20532821 RGD:7387239 NCBI chrNW_004936474:623,438...637,849 JBrowse link
G Mtnr1a melatonin receptor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21915336 NCBI chrNW_004936554:3,013,106...3,047,171 JBrowse link
G Nos2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23075401 NCBI chrNW_004936538:4,052,277...4,097,051 JBrowse link
G Ocln occludin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19324842 NCBI chrNW_004936480:99,516...152,834 JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: therapeutic CTD PMID:11840346 NCBI chrNW_004936492:2,353,840...2,368,573 JBrowse link
G Pkd2 polycystin 2, transient receptor potential cation channel ISO CTD Direct Evidence: marker/mechanism CTD PMID:25013951 NCBI chrNW_004936905:76,781...128,995 JBrowse link
G Prph2 peripherin 2 ISO RGD PMID:8320859 RGD:8553226 NCBI chrNW_004936476:17,159,756...17,174,226 JBrowse link
G Ptprc protein tyrosine phosphatase receptor type C ISO CTD Direct Evidence: marker/mechanism CTD PMID:19324842 NCBI chrNW_004936567:5,266,653...5,378,464 JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20835237 NCBI chrNW_004936526:7,202,147...7,431,455 JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23217256 NCBI chrNW_004936521:10,296,097...10,316,673 JBrowse link
G Thy1 Thy-1 cell surface antigen ISO protein:decreased expression:retina
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:18836575, PMID:23075401 RGD:5490154 NCBI chrNW_004936542:4,323,905...4,329,940 JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19324842 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Ttpa alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11752462 NCBI chrNW_004936496:10,409,948...10,466,722 JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Retinal disease ClinVar PMID:666627, PMID:1429711, PMID:1820207, PMID:1899321, PMID:7704033, PMID:9158138, PMID:10766867, PMID:17952075, PMID:17999355, PMID:18326704, PMID:18488027, PMID:18488028, PMID:18925668, PMID:19208379, PMID:19533789, PMID:21541274, PMID:23504663, PMID:25216246, PMID:25741868, PMID:30311386 NCBI chrNW_004936736:421,623...519,085 JBrowse link
G Uchl1 ubiquitin C-terminal hydrolase L1 ISO mRNA:decreased expression:retina RGD PMID:18836575 RGD:5490154 NCBI chrNW_004936482:8,551,749...8,563,586 JBrowse link
G Vegfa vascular endothelial growth factor A ISO CTD Direct Evidence: marker/mechanism CTD PMID:19324842 NCBI chrNW_004936476:16,245,134...16,261,180 JBrowse link
G Vim vimentin ISO CTD Direct Evidence: marker/mechanism CTD PMID:23075401 NCBI chrNW_004936520:10,051,692...10,059,324 JBrowse link
G Vsx1 visual system homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15051220 NCBI chrNW_004936620:710,917...718,205 JBrowse link
G Znf513 zinc finger protein 513 ISO ClinVar Annotator: match by term: Retinal disease ClinVar PMID:30311386 NCBI chrNW_004936493:5,203,926...5,207,031 JBrowse link
acute retinal necrosis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifng interferon gamma ISO associated with Herpes Zoster;protein:increased expression:vitreous humor: RGD PMID:12928903 RGD:8142380 NCBI chrNW_004936545:6,139,130...6,144,543 JBrowse link
G Itga2 integrin subunit alpha 2 ISO protein:increased expression:eye anterior segment, natural killer cell (mouse) RGD PMID:19387084 RGD:8693207 NCBI chrNW_004936480:14,320,292...14,417,828 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, PMID:30311386 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
background diabetic retinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin treatment ISO RGD PMID:10848441 RGD:10046010 NCBI chrNW_004936870:424,832...468,303 JBrowse link
G Cat catalase ISO associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum: RGD PMID:24092995 RGD:9068931 NCBI chrNW_004936533:3,601,270...3,637,128 JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 ISO protein:decreased expression:aqueous humor: RGD PMID:23853629 RGD:10402120 NCBI chrNW_004936472:23,442,946...23,617,523 JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:decreased expression:vitreous: RGD PMID:19799585 RGD:10449447 NCBI chrNW_004936492:2,353,840...2,368,573 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: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
birdshot chorioretinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il2 interleukin 2 ISO protein:increased expression:aqueous humor RGD PMID:21570674 RGD:5147908 NCBI chrNW_004936662:1,594,953...1,599,625 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
bradyopsia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101958197 regulator of G protein signaling 9 ISO OMIM NCBI chrNW_004936541:7,472,195...7,525,220 JBrowse link
G Rgs9bp regulator of G protein signaling 9 binding protein ISO OMIM NCBI chrNW_004936570:3,042,233...3,043,884 JBrowse link
central retinal vein occlusion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Proc protein C, inactivator of coagulation factors Va and VIIIa treatment ISO RGD PMID:20688738 RGD:11100028 NCBI chrNW_004936469:43,841,989...43,850,322 JBrowse link
G Serpinf1 serpin family F member 1 ISO protein:increased expression:neuroretina (rat) RGD PMID:21487926 RGD:5490120 NCBI chrNW_004936538:7,885,816...7,898,308 JBrowse link
Central Serous Chorioretinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpine1 serpin family E member 1 ISO protein:increased expression:serum (human)
protein:increased expression:plasma (human)
RGD PMID:10218712, PMID:24446892 RGD:8547738, RGD:8547804 NCBI chrNW_004936543:1,032,543...1,040,956 JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts
CTD
ClinVar
PMID:22267198, PMID:22387016, PMID:23869908, PMID:24033266, PMID:25182133, PMID:25741868, PMID:28492532 NCBI chrNW_004936595:1,456,911...1,476,331 JBrowse link
G Stn1 STN1 subunit of CST complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936600:2,230,754...2,266,956 JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CST telomere replication complex component 1 ISO OMIM NCBI chrNW_004936595:1,456,911...1,476,331 JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004936595:1,483,688...1,499,716 JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stn1 STN1 subunit of CST complex ISO OMIM NCBI chrNW_004936600:2,230,754...2,266,956 JBrowse link
chorioretinitis 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 associated with Toxoplasmosis, Congenital;DNA:snp:intron:IVS2-218 (rs1793958) (human) RGD PMID:18523590 RGD:8657355 NCBI chrNW_004936512:5,861,933...5,894,898 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 Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO ClinVar Annotator: match by term: Choroideremia ClinVar PMID:30311386 NCBI chrNW_004936475:9,844,438...9,908,009 JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO ClinVar Annotator: match by term: Choroideremia ClinVar PMID:28492532, PMID:30311386 NCBI chrNW_004936479:15,523,342...15,540,229 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
G Rom1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Choroideremia ClinVar PMID:8202715, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chrNW_004936581:642,322...644,286 JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acod1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:4,322,198...4,326,562 JBrowse link
G Alg11 ALG11 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,763,894...4,775,360 JBrowse link
G Arl11 ADP ribosylation factor like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,686,783...2,687,377 JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,694,294...4,763,661 JBrowse link
G Bora BORA aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:8,107,476...8,134,677 JBrowse link
G Cab39l calcium binding protein 39 like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,415,225...2,536,311 JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,336,613...2,395,816 JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,872,142...4,896,449 JBrowse link
G Cln5 CLN5 intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:4,283,016...4,291,968 JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936667:599,703...624,821 JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:5,591,851...5,596,998 JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,917,970...1,919,027 JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:8,899,245...9,253,024 JBrowse link
G Diaph3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936705:1,381,025...1,833,890 JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:8,082,909...8,105,203 JBrowse link
G Dleu7 deleted in lymphocytic leukemia 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:3,706,566...3,722,689 JBrowse link
G Ebpl EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,706,788...2,731,453 JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:3,446,864...3,478,434 JBrowse link
G Fam124a family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,058,280...4,106,803 JBrowse link
G Fbxl3 F-box and leucine rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:4,259,066...4,280,501 JBrowse link
G Fndc3a fibronectin type III domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,154,672...2,312,670 JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,198,659...4,282,443 JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,535,570...1,557,667 JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,991,568...2,997,592 JBrowse link
G Kctd12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:4,389,558...4,395,630 JBrowse link
G Klf12 Kruppel like factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:6,992,131...7,292,484 JBrowse link
G Klf5 Kruppel like factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:7,806,714...7,824,833 JBrowse link
G Klhl1 kelch like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:10,511,200...10,879,121 JBrowse link
G Kpna3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,738,003...2,775,814 JBrowse link
G Lmo7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:5,292,737...5,501,374 JBrowse link
G LOC101971599 tudor domain-containing protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:11,258,898...11,348,522 JBrowse link
G LOC101978403 histone-lysine N-methyltransferase SETDB2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,536,623...2,607,824 JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,688,218...1,689,876 JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,397,434...1,414,674 JBrowse link
G Mlnr motilin receptor ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,321,799...2,326,871 JBrowse link
G Mycbp2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:3,977,950...4,248,959 JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:8,134,607...8,149,923 JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:2,063,630...2,123,214 JBrowse link
G Nek3 NIMA related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,840,416...4,863,349 JBrowse link
G Nek5 NIMA related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,779,843...4,836,093 JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,380,981...1,389,908 JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:2,800,466...2,847,896 JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936667:905,556...923,105 JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936820:764,016...860,325 JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936705:326,349...332,242 JBrowse link
G Pcdh8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936667:716,802...721,441 JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936553:424,425...971,388 JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:7,860,552...8,082,850 JBrowse link
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:2,857,017...2,859,705 JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,596,227...1,746,706 JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:2,175,192...2,252,955 JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,608,788...2,649,992 JBrowse link
G Rcbtb2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,750,565...1,789,779 JBrowse link
G Rnaseh2b ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:3,791,305...3,839,991 JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:3,696,150...3,794,031 JBrowse link
G Serpine3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,167,734...4,198,573 JBrowse link
G Slain1 SLAIN motif family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:3,615,251...3,671,429 JBrowse link
G Slitrk1 SLIT and NTRK like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936696:1,447,644...1,452,612 JBrowse link
G Slitrk6 SLIT and NTRK like family member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936866:412,719...419,381 JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:1,452,421...1,458,031 JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,911,523...2,939,151 JBrowse link
G Sucla2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:1,313,150...1,355,693 JBrowse link
G Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936667:556,555...588,585 JBrowse link
G Tbc1d4 TBC1 domain family member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:5,789,683...5,858,930 JBrowse link
G Thsd1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,925,400...4,952,210 JBrowse link
G Trim13 tripartite motif containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:2,976,681...2,989,036 JBrowse link
G Uchl3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936511:5,524,425...5,581,156 JBrowse link
G Vps36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,898,969...4,921,411 JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chrNW_004936565:4,375,012...4,527,259 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
Coats disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fzd4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Exudative retinopathy 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 Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Coats disease ClinVar PMID:26908610 NCBI chrNW_004936502:10,080,169...10,105,155 JBrowse link
G Pcdh12 protocadherin 12 ISO ClinVar Annotator: match by term: Exudative retinopathy ClinVar PMID:25741868, PMID:30459466 NCBI chrNW_004936504:12,226,771...12,244,959 JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Exudative retinopathy 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 Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Coats disease
ClinVar Annotator: match by term: Exudative retinopathy
ClinVar PMID:26908610, PMID:28492532 NCBI chrNW_004936565:2,608,788...2,649,992 JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Exudative retinopathy ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004936602:896,730...901,480 JBrowse link
COL4A1-related familial vascular leukoencephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO OMIM NCBI chrNW_004936472:2,416,043...2,543,561 JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage ClinVar PMID:25741868, PMID:26467025 NCBI chrNW_004936472:2,270,836...2,416,324 JBrowse link
cone 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: Cone dystrophy ClinVar PMID:24697911 NCBI chrNW_004936620:451,216...531,353 JBrowse link
G Bbs5 Bardet-Biedl syndrome 5 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:15137946, PMID:20498079, PMID:25741868, PMID:28041643, PMID:28492532 NCBI chrNW_004936509:25,263...45,113 JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868, PMID:28041643 NCBI chrNW_004936599:2,295,124...2,299,558 JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Cone dystrophy
ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY
ClinVar PMID:28041643, PMID:28492532, PMID:30718709 NCBI chrNW_004936606:2,011,454...2,118,255 JBrowse link
G Cdhr1 cadherin related family member 1 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:23591405, PMID:24033266, PMID:25741868, PMID:26766544, PMID:27353947, PMID:28041643, PMID:28224992, PMID:28492532, PMID:28765526, PMID:28885867, PMID:30311386, PMID:30718709 NCBI chrNW_004936767:805,910...829,838 JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chrNW_004936844:101,815...271,254 JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:30311386 NCBI chrNW_004936507:5,223,756...5,305,392 JBrowse link
G Cerkl ceramide kinase like ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:14681825, PMID:21151602, PMID:22164218, PMID:24043777, PMID:24625443, PMID:25097241, PMID:25741868, PMID:25999674, PMID:28041643, PMID:28492532, PMID:30311386, 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: Cone dystrophy ClinVar PMID:26167768, PMID:26974433, PMID:27596865, PMID:28041643, PMID:28422394, PMID:28492532, PMID:30311386 NCBI chrNW_004936500:82,702...90,525 JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:18521937, PMID:25741868, PMID:28041643 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 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:24148654, PMID:25741868, PMID:25770143, PMID:28041643, PMID:28492532, PMID:28795510, PMID:30311386, PMID:30718709 NCBI chrNW_004936544:1,166,896...1,305,339 JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:30311386 NCBI chrNW_004936567:6,347,661...6,559,731 JBrowse link
G CUNH8orf37 chromosome unknown C8orf37 homolog ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:30311386 NCBI chrNW_004936544:8,170,841...8,192,896 JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 NCBI chrNW_004936704:1,079,255...1,093,732 JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY
ClinVar Annotator: match by term: Cone dystrophy
ClinVar PMID:15505030, PMID:25741868, PMID:28492532 NCBI chrNW_004936476:17,690,484...17,701,288 JBrowse link
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: Cone dystrophy
ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY
ClinVar PMID:15505030, PMID:25741868, PMID:28492532 NCBI chrNW_004936476:17,679,505...17,688,970 JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:8554074, PMID:9618177, PMID:10676808, PMID:11115851, PMID:11565546, PMID:12552567, PMID:15175914, PMID:18055820, PMID:21602930, PMID:24875811, PMID:26298565, PMID:28041643, PMID:28492532, PMID:29178642, PMID:30311386, PMID:30718709 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: RETINAL CONE DYSTROPHY
ClinVar Annotator: match by term: Cone dystrophy
ClinVar PMID:23885164, PMID:25741868, PMID:28492532 NCBI chrNW_004936503:2,320,570...2,332,833 JBrowse link
G LOC101962609 protein SCO2 homolog, mitochondrial ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:30311386 NCBI chrNW_004936629:318,581...320,804 JBrowse link
G Mall mal, T cell differentiation protein like ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:28041643 NCBI chrNW_004937185:114,823...153,595 JBrowse link
G Ncaph2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:30311386 NCBI chrNW_004936629:320,885...327,290 JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar NCBI chrNW_004936623:3,862,234...3,891,849 JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar NCBI chrNW_004936601:1,343,538...1,393,605 JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 NCBI chrNW_004936677:1,451,974...1,528,864 JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:8644804, PMID:19038374, PMID:19243827, PMID:25741868, PMID:28076437, PMID:28492532, PMID:28559085, PMID:30718709 NCBI chrNW_004936476:17,159,756...17,174,226 JBrowse link
G Rgr retinal G protein coupled receptor ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:10581022, PMID:25741868, PMID:27623334, PMID:28492532, PMID:30311386, PMID:30337596 NCBI chrNW_004936767:855,811...866,941 JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:1862076, PMID:30311386 NCBI chrNW_004936602:896,730...901,480 JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:30311386 NCBI chrNW_004936618:3,678,400...4,047,994 JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:28492532, PMID:30311386 NCBI chrNW_004936591:3,347,346...3,368,062 JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:11857109, PMID:11875055, PMID:30311386 NCBI chrNW_004936502:5,163,164...5,212,940 JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 NCBI chrNW_004936880:440,900...511,503 JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chrNW_004936844:284,938...314,524 JBrowse link
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 NCBI chrNW_004936525:3,932,118...3,965,651 JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:30311386 NCBI chrNW_004936524:1,219,101...1,229,937 JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:30311386 NCBI chrNW_004936476:23,744,707...23,757,002 JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:24033266, PMID:30311386 NCBI chrNW_004936628:2,123,917...2,859,958 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 Abhd12 abhydrolase domain containing 12, lysophospholipase ISO ClinVar Annotator: match by term: Cone rod dystrophy ClinVar PMID:24697911 NCBI chrNW_004936620:451,216...531,353 JBrowse link
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 Bbs5 Bardet-Biedl syndrome 5 ISO ClinVar Annotator: match by term: Cone rod dystrophy ClinVar PMID:15137946, PMID:20498079, PMID:25741868, PMID:28041643, PMID:28492532 NCBI chrNW_004936509:25,263...45,113 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 retinal dystrophy
ClinVar Annotator: match by term: Cone-rod degeneration
ClinVar PMID:19074807, PMID:23714322, PMID:25741868, PMID:28041643, 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 Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Cone rod dystrophy ClinVar PMID:28041643 NCBI chrNW_004936606:2,011,454...2,118,255 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 retinal dystrophy
ClinVar PMID:23591405, PMID:24033266, PMID:25741868, PMID:26766544, PMID:27353947, PMID:28041643, PMID:28224992, PMID:28492532, PMID:28765526, PMID:28885867, PMID:30311386, PMID:30718709 NCBI chrNW_004936767:805,910...829,838 JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chrNW_004936844:101,815...271,254 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 Annotator: match by term: Cone-rod retinal dystrophy
ClinVar PMID:17345604, PMID:21866095, PMID:25741868, PMID:26092869, PMID:28492532, PMID:28497568, PMID:30193310, PMID:30311386, 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 Annotator: match by term: Cone-rod retinal dystrophy
ClinVar PMID:14681825, PMID:21151602, PMID:22164218, PMID:24043777, PMID:24625443, PMID:25097241, PMID:25741868, PMID:25999674, PMID:28041643, PMID:28492532, PMID:30311386, 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: Cone-rod retinal dystrophy ClinVar PMID:26167768, PMID:26974433, PMID:27596865, PMID:28041643, PMID:28422394, PMID:28492532, PMID:30311386 NCBI chrNW_004936500:82,702...90,525 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:28492532, PMID:28981474, PMID:30311386, 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 dystrophy
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar Annotator: match by term: Cone-rod degeneration
ClinVar PMID:11536077, PMID:18521937, PMID:24033266, PMID:25741868, PMID:28041643, 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 retinal dystrophy
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:24148654, PMID:25741868, PMID:25770143, PMID:28041643, PMID:28492532, PMID:28795510, PMID:30311386, PMID:30718709 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 retinal dystrophy
ClinVar Annotator: match by term: Cone-rod dystrophy
RGD
ClinVar
PMID:23767994, PMID:25741868, PMID:30311386 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 Annotator: match by term: Cone-rod retinal dystrophy
ClinVar PMID:30311386 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 Gnat2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:25741868 NCBI chrNW_004936704:1,079,255...1,093,732 JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive
ClinVar PMID:15505030, PMID:25741868, PMID:28492532 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
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar PMID:15505030, PMID:25741868, PMID:28492532 NCBI chrNW_004936476:17,679,505...17,688,970 JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Cone-rod degeneration
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar Annotator: match by term: Cone rod dystrophy
ClinVar PMID:8554074, PMID:9618177, PMID:10676808, PMID:11115851, PMID:11565546, PMID:12552567, PMID:15175914, PMID:18055820, PMID:21602930, PMID:24875811, PMID:26298565, PMID:28041643, PMID:28492532, PMID:29178642, PMID:30311386, PMID:30718709 NCBI chrNW_004936595:1,235,747...1,250,294 JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar PMID:28492532, PMID:30311386 NCBI chrNW_004936570:257,636...297,797 JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004936479:15,523,342...15,540,229 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 Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004936503:2,320,570...2,332,833 JBrowse link
G LOC101962609 protein SCO2 homolog, mitochondrial ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:30311386 NCBI chrNW_004936629:318,581...320,804 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 Mall mal, T cell differentiation protein like ISO ClinVar Annotator: match by term: Cone rod dystrophy ClinVar PMID:28041643 NCBI chrNW_004937185:114,823...153,595 JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:16963483, PMID:22690115, PMID:23237960, PMID:24033266, PMID:25525159, PMID:27460420, PMID:30311386 NCBI chrNW_004936498:5,758,572...5,824,526 JBrowse link
G Ncaph2 non-SMC condensin II complex subunit H2 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:30311386 NCBI chrNW_004936629:320,885...327,290 JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy
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:30311386, 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 Pcare photoreceptor cilium actin regulator ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:21412943, PMID:27353947, PMID:28041643, PMID:28492532, PMID:30311386 NCBI chrNW_004936493:3,768,032...3,781,511 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:22334370, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386, 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 Annotator: match by term: Cone-Rod Dystrophy, Dominant
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, PMID:30311386 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 Annotator: match by term: Cone-rod retinal dystrophy
ClinVar PMID:25741868, 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 dystrophy
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar PMID:17605048, PMID:19718270, PMID:23757202, PMID:24154662, PMID:24474277, PMID:25741868, PMID:26702251, PMID:28492532 NCBI chrNW_004936477:11,878,261...12,017,228 JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004936538:7,780,022...7,814,575 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 retinal dystrophy
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:8644804, 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:19038374, PMID:19243827, 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:28076437, PMID:28492532, PMID:28559085, 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 Rgr retinal G protein coupled receptor ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:10581022, PMID:25741868, PMID:27623334, PMID:28492532, PMID:30311386, PMID:30337596 NCBI chrNW_004936767:855,811...866,941 JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar Annotator: match by term: Rod-cone dystrophy
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar PMID:1862076, PMID:7981701, PMID:8088850, PMID:8107847, PMID:9380676, PMID:11139241, PMID:12871954, PMID:16767206, PMID:17488458, PMID:19913029, PMID:21094163, PMID:21217109, PMID:21219898, PMID:25999674, PMID:28492532, PMID:29847639, PMID:30240733, PMID:30311386, 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 Annotator: match by term: Cone-rod retinal dystrophy
ClinVar PMID:28492532, PMID:30311386 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 Annotator: match by term: Rod-cone dystrophy
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar PMID:9326941, PMID:11462243, PMID:11786058, PMID:19854499, PMID:20683928, PMID:21211845, PMID:25257057, PMID:28041643, PMID:28492532, PMID:30311386 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 retinal dystrophy
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar PMID:11857109, PMID:11875055, PMID:30311386, 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 dystrophy
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar PMID:25741868 NCBI chrNW_004936880:440,900...511,503 JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chrNW_004936844:284,938...314,524 JBrowse link
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:25741868 NCBI chrNW_004936525:3,932,118...3,965,651 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 Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:30311386 NCBI chrNW_004936524:1,219,101...1,229,937 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 Ttc8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Cone-rod degeneration ClinVar PMID:16308660, PMID:21044901, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chrNW_004936488:16,258,247...16,306,077 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 Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:30311386 NCBI chrNW_004936476:23,744,707...23,757,002 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: Rod-cone dystrophy
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar PMID:9624053, PMID:10090909, PMID:10729113, PMID:10775529, PMID:10909849, PMID:11311042, PMID:11402400, PMID:12112664, PMID:12525556, PMID:14970843, PMID:15015129, PMID:15025721, PMID:15043528, PMID:15241801, PMID:15325563, PMID:15326663, PMID:16963483, PMID:17296898, PMID:17405132, PMID:18273898, PMID:18463160, PMID:18641288, PMID:18665195, PMID:19683999, PMID:19881469, PMID:20145675, PMID:20301515, PMID:20513143, PMID:21174530, PMID:21234346, PMID:21569298, PMID:22135276, PMID:22495311, PMID:22581970, PMID:23352160, PMID:24033266, PMID:24088041, PMID:24160897, PMID:24498627, PMID:24607488, PMID:24944099, PMID:25097241, PMID:25262649, PMID:25333064, 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:29293505, PMID:29953849, PMID:30311386, 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
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 PMID:26153215 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
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
congenital stationary night blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive ClinVar PMID:28492532 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: Congenital stationary night blindness
ClinVar Annotator: match by term: Congenital stationary night blindness, type 2A
DNA:mutation:cds: c.2941C>T (rat)
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9662399, PMID:9662400, PMID:12111638, PMID:18246026, PMID:25307992, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30718709, PMID:30825406 RGD:13782370, RGD:734671 NCBI chrNW_004936721:1,078,570...1,106,153 JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chrNW_004936844:101,815...271,254 JBrowse link
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive ClinVar NCBI chrNW_004936471:25,914,284...26,022,512 JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant
CTD
ClinVar
NCBI chrNW_004936529:1,735,258...1,740,297 JBrowse link
G Gnb3 G protein subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936709:970,169...977,059 JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
ClinVar Annotator: match by term: Congenital stationary night blindness
CTD
ClinVar
PMID:22325361, PMID:22325362, PMID:24033266, PMID:28041643 NCBI chrNW_004936490:13,801,514...13,818,666 JBrowse link
G Grk1 G protein-coupled receptor kinase 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:30718709 NCBI chrNW_004936472:152,202...165,134 JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital stationary night blindness
CTD
ClinVar
PMID:16249515, PMID:17405131, PMID:19666700, PMID:22008250, PMID:28041643, PMID:28492532, PMID:30718709 NCBI chrNW_004936739:1,726,382...1,742,937 JBrowse link
G Lrit3 leucine rich repeat, Ig-like and transmembrane domains 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
CTD
ClinVar
PMID:28492532 NCBI chrNW_004936563:1,036,079...1,054,778 JBrowse link
G Nyx nyctalopin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital stationary night blindness, X-linked
CTD
ClinVar
NCBI chrNW_004936502:7,890,582...7,909,157 JBrowse link
G Pde6a phosphodiesterase 6A ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:7493036, PMID:30311386 NCBI chrNW_004936504:5,018,171...5,088,333 JBrowse link
G Pde6b phosphodiesterase 6B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital stationary night blindness
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant
CTD
ClinVar
PMID:8075643, PMID:30311386, PMID:30718709 NCBI chrNW_004936477:22,418,037...22,472,251 JBrowse link
G Rho rhodopsin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital stationary night blindness
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant
CTD
ClinVar
PMID:8107847, PMID:8358437, PMID:28492532, PMID:30311386 NCBI chrNW_004936602:896,730...901,480 JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:30311386 NCBI chrNW_004936675:2,527,406...2,564,464 JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:28041643 NCBI chrNW_004936502:5,163,164...5,212,940 JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chrNW_004936844:284,938...314,524 JBrowse link
G Sag S-antigen visual arrestin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7670478 NCBI chrNW_004936525:3,932,118...3,965,651 JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
CTD
ClinVar
PMID:28492532 NCBI chrNW_004936471:25,872,854...25,909,102 JBrowse link
G Trpm1 transient receptor potential cation channel subfamily M member 1 ISO DNA:mutations:exon, intron:multiple (human)
ClinVar Annotator: match by term: Congenital stationary night blindness
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
DNA:deletion, missense mutations:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
RGD
ClinVar
CTD
PMID:19878917, PMID:19896109, PMID:19896113, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386 RGD:7175555, RGD:7183084, RGD:7183085 NCBI chrNW_004936483:723,784...856,839 JBrowse link
G Trpv3 transient receptor potential cation channel subfamily V member 3 ISO DNA:mutations:multiple (human) RGD PMID:19878917 RGD:7175555 NCBI chrNW_004936677:239,133...270,512 JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:9624053, PMID:10090909, PMID:10729113, PMID:10775529, PMID:10909849, PMID:11311042, PMID:11402400, PMID:12112664, PMID:12525556, PMID:14970843, PMID:15025721, PMID:15325563, PMID:15326663, PMID:17296898, PMID:17405132, PMID:18641288, PMID:18665195, PMID:19881469, PMID:20145675, PMID:20301515, PMID:21174530, PMID:21234346, PMID:22495311, PMID:22581970, PMID:23352160, PMID:24033266, PMID:24088041, PMID:24160897, PMID:24607488, PMID:24944099, 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
congenital stationary night blindness 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nyx nyctalopin ISO OMIM NCBI chrNW_004936502:7,890,582...7,909,157 JBrowse link
congenital stationary night blindness 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar NCBI chrNW_004936471:25,914,284...26,022,512 JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:30311386 NCBI chrNW_004936490:13,801,514...13,818,666 JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO OMIM NCBI chrNW_004936739:1,726,382...1,742,937 JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:12037007, PMID:20850105, PMID:25741868, PMID:26822852, PMID:28492532 NCBI chrNW_004936471:25,872,854...25,909,102 JBrowse link
congenital stationary night blindness 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Congenital stationary night blindness, type 1C
ClinVar NCBI chrNW_004936471:25,914,284...26,022,512 JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:30311386 NCBI chrNW_004936490:13,801,514...13,818,666 JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Congenital stationary night blindness, type 1C
ClinVar PMID:12037007, PMID:20850105, PMID:25741868, PMID:26822852, PMID:28492532 NCBI chrNW_004936471:25,872,854...25,909,102 JBrowse link
G Trpm1 transient receptor potential cation channel subfamily M member 1 ISO OMIM NCBI chrNW_004936483:723,784...856,839 JBrowse link
congenital stationary night blindness 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar NCBI chrNW_004936471:25,914,284...26,022,512 JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:30311386 NCBI chrNW_004936490:13,801,514...13,818,666 JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO OMIM NCBI chrNW_004936471:25,872,854...25,909,102 JBrowse link
congenital stationary night blindness 1E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar NCBI chrNW_004936471:25,914,284...26,022,512 JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO OMIM NCBI chrNW_004936490:13,801,514...13,818,666 JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:12037007, PMID:20850105, PMID:25741868, PMID:26822852, PMID:28492532 NCBI chrNW_004936471:25,872,854...25,909,102 JBrowse link
congenital stationary night blindness 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrit3 leucine rich repeat, Ig-like and transmembrane domains 3 ISO OMIM NCBI chrNW_004936563:1,036,079...1,054,778 JBrowse link
congenital stationary night blindness 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnat1 G protein subunit alpha transducin 1 ISO OMIM NCBI chrNW_004936529:1,735,258...1,740,297 JBrowse link
congenital stationary night blindness 1H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: Night blindness, congenital stationary, type 1h ClinVar PMID:27063057 NCBI chrNW_004936709:966,559...969,667 JBrowse link
G Gnb3 G protein subunit beta 3 ISO OMIM NCBI chrNW_004936709:970,169...977,059 JBrowse link
Congenital Stationary Night Blindness 1I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gucy2d guanylate cyclase 2D, retinal ISO OMIM NCBI chrNW_004936595:1,235,747...1,250,294 JBrowse link
congenital stationary night blindness 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO OMIM NCBI chrNW_004936721:1,078,570...1,106,153 JBrowse link
Congenital Stationary Night Blindness 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cabp4 calcium binding protein 4 ISO OMIM NCBI chrNW_004936599:2,295,124...2,299,558 JBrowse link
G Gpr152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 2B ClinVar NCBI chrNW_004936599:2,301,232...2,303,547 JBrowse link
congenital stationary night blindness autosomal dominant 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rho rhodopsin ISO OMIM NCBI chrNW_004936602:896,730...901,480 JBrowse link
congenital stationary night blindness autosomal dominant 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6b phosphodiesterase 6B ISO OMIM NCBI chrNW_004936477:22,418,037...22,472,251 JBrowse link
congenital stationary night blindness autosomal dominant 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnat1 G protein subunit alpha transducin 1 ISO OMIM NCBI chrNW_004936529:1,735,258...1,740,297 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:9628581, PMID:11477603, PMID:12730828, PMID:15141358, PMID:15498460, PMID:16648375, PMID:17990063, PMID:18414213, PMID:19006247, PMID:20656880, PMID:20683995, PMID:20921020, PMID:21418059, PMID:22382802, PMID:23352163, PMID:23757202, PMID:24033266, PMID:25502226, PMID:25741868, PMID:26104215, 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
cystoid macular edema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Impdh1 inosine monophosphate dehydrogenase 1 ISO ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:30311386 NCBI chrNW_004936479:15,523,342...15,540,229 JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:30311386 NCBI chrNW_004936669:1,377,005...1,385,287 JBrowse link
G Prpf31 pre-mRNA processing factor 31 ISO ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:30311386 NCBI chrNW_004936994:239,688...252,269 JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:1862076, PMID:30311386 NCBI chrNW_004936602:896,730...901,480 JBrowse link
cytomegalovirus retinitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il10 interleukin 10 ISO associated with Murine Acquired Immunodeficiency Syndrome RGD PMID:23415673 RGD:7364815 NCBI chrNW_004936557:5,834,874...5,838,502 JBrowse link
G Tnf tumor necrosis factor ISO mRNA,protein:increased expression:eye: RGD PMID:17389501, PMID:22072377 RGD:7394768, RGD:7394808 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO RGD PMID:17389501 RGD:7394808 NCBI chrNW_004936709:1,407,327...1,421,448 JBrowse link
diabetic retinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace2 angiotensin I converting enzyme 2 treatment ISO CTD Direct Evidence: therapeutic
associated with Diabetes Mellitus, Experimental
CTD
RGD
PMID:21792177, PMID:31380462 RGD:8548900 NCBI chrNW_004936470:4,964,526...5,011,808 JBrowse link
G Acp1 acid phosphatase 1 ISO associated with Diabetes Mellitus, Insulin-Dependent RGD PMID:12495297 RGD:2313184 NCBI chrNW_004936532:130,799...145,285 JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing disease_progression ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum
associated with Diabetes Mellitus, Type 2;DNA:SNP: :g.45T>G (human)
RGD PMID:17970779, PMID:24655058 RGD:8694412, RGD:8694475 NCBI chrNW_004936578:3,168,599...3,179,369 JBrowse link
G Adm adrenomedullin ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:19216096 RGD:2313312 NCBI chrNW_004936528:8,005,223...8,007,586 JBrowse link
G Adrb3 adrenoceptor beta 3 ISO associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:9313761 RGD:5684400 NCBI chrNW_004936710:1,410,589...1,413,279 JBrowse link
G Ager advanced glycosylation end-product specific receptor treatment
susceptibility
no_association
severity
ISO associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Type 2;DNA:missense mutation, snp, haplotype:cds, intron:p.G82S, g.1704G>T (human)
associated with Diabetes Mellitus, Type 2;DNA:SNP: :2245G>A (human)
associated with Diabetes Mellitus, Type 2;DNA:polymorphisms:promoter, cds, intron:g.-443T>C, p.G82S, g.1704G>T (rs1800625, rs2070600, rs184003) (human)
associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-374T>A, - 429T>C (human)
associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-374T>A (human)
protein:increased expression:retina inner nuclear layer, retinal ganglion cell (rat)
associated with Diabetes Mellitus, Type 1;DNA:SNP:promoter:-374T>A (human)
associated with Diabetes Mellitus, Type 2;DNA:polymorphisms: :p.G82S, 1704G>T, 2184A>G (human)
associated with Diabetes Mellitus, Type 2;protein:increased expression:serum
associated with Diabetes Mellitus, Type 2;DNA:SNP:promoter:-429T>C (human)
RGD PMID:11375354, PMID:14704946, PMID:16969646, PMID:19542745, PMID:22116960, PMID:22171162, PMID:22427038, PMID:22475522, PMID:23091285, PMID:23146804, PMID:23587252 RGD:7244174, RGD:7244175, RGD:7244176, RGD:7244248, RGD:7244369, RGD:8695958, RGD:8695965, RGD:8695966, RGD:8695967, RGD:8695979, RGD:8695983 NCBI chrNW_004936727:1,418,342...1,422,005 JBrowse link
G Agt angiotensinogen treatment ISO CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Type 1;DNA:polymorphism: :p.M235T (human)
associated with Diabetes Mellitus, Experimental
CTD
RGD
PMID:10862638, PMID:15387897, PMID:21792177 RGD:8548872, RGD:8548900 NCBI chrNW_004936484:19,713,299...19,721,144 JBrowse link
G Agtr1 angiotensin II receptor type 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16601577 NCBI chrNW_004936519:6,831,096...6,873,977 JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B susceptibility
no_association
ISO associated with Diabetes Mellitus, Type 2;DNA:snp:promoter:g.-106C>T (human)
associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Type 2;DNA:promoter:repeat:g.-2008(AC)n (rs35839483) (human)
protein:increased expression:retinal astrocyte (rat)
associated with Diabetes Mellitus;DNA:repeats, snp:promoter:multiple (human)
RGD PMID:8150024, PMID:16701918, PMID:17003340, PMID:19587357, PMID:21067572 RGD:1626080, RGD:8548640, RGD:8548668, RGD:8548676, RGD:8548684 NCBI chrNW_004936579:1,312,175...1,328,397 JBrowse link
G Ang angiogenin ISO associated with Diabetes Mellitus, Type 2;protein:decreased tyrosine phosphorylation:vitreous humor RGD PMID:18978347 RGD:2307061 NCBI chrNW_004936880:39,372...40,070 JBrowse link
G Angpt1 angiopoietin 1 ISO associated with Diabetes Mellitus, Experimental RGD PMID:12000720 RGD:2313818 NCBI chrNW_004936470:37,105,469...37,328,183 JBrowse link
G Angpt2 angiopoietin 2 ISO protein:increased expression:retina (rat) RGD PMID:16520919 RGD:2314216 NCBI chrNW_004936615:4,472,261...4,524,537 JBrowse link
G Aoc3 amine oxidase copper containing 3 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:11522499 RGD:2313826 NCBI chrNW_004936490:17,549,836...17,564,867 JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:vitreous humor (human) RGD PMID:19081814 RGD:5685692 NCBI chrNW_004936542:2,098,683...2,101,127 JBrowse link
G Apob apolipoprotein B ISO associated with Diabetes Mellitus, Non-Insulin-Dependent RGD PMID:19448981 RGD:2313976 NCBI chrNW_004936493:10,509,118...10,549,144 JBrowse link
G Apoc3 apolipoprotein C3 severity ISO protein:increased expression:serum RGD PMID:15642486 RGD:2306768 NCBI chrNW_004936542:2,106,927...2,108,412 JBrowse link
G Apoe apolipoprotein E susceptibility
no_association
ISO associated with Diabetic Mellitus type 2;DNA:polymorphism:exon: RGD PMID:11495633, PMID:16862278 RGD:7771553, RGD:7771557 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Apoh apolipoprotein H ISO protein:increased expression:vitreous humor RGD PMID:18695102 RGD:2313982 NCBI chrNW_004936541:6,683,483...6,695,094 JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:22449442 RGD:8695996 NCBI chrNW_004936550:5,931,201...5,943,999 JBrowse link
G Bdkrb1 bradykinin receptor B1 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:18311190 RGD:2313334 NCBI chrNW_004936604:551,774...567,014 JBrowse link
G Bdnf brain derived neurotrophic factor ISO associated with Diabetes Mellitus, Experimental;protein:decreased expression:retina: RGD PMID:15331553 RGD:8655657 NCBI chrNW_004936540:5,530,081...5,582,765 JBrowse link
G Casp3 caspase 3 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Experimental;protein:increased expresssion:retina
RGD
CTD
PMID:19013511, PMID:19187597, PMID:20654064 RGD:2311444, RGD:2311448 NCBI chrNW_004936554:4,571,072...4,593,765 JBrowse link
G Casp9 caspase 9 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased activation:retina RGD PMID:18369072 RGD:2311244 NCBI chrNW_004936474:3,178,097...3,196,130 JBrowse link
G Cat catalase ISO protein:decreased expression:retina RGD PMID:21314438 RGD:5130875 NCBI chrNW_004936533:3,601,270...3,637,128 JBrowse link
G Ccl5 C-C motif chemokine ligand 5 severity ISO protein:increased expression:serum
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor
RGD PMID:16249511, PMID:18978347 RGD:2307061, RGD:2307104 NCBI chrNW_004936490:253,279...259,947 JBrowse link
G Ccn2 cellular communication network factor 2 ISO associated with Diabetes Mellitus, Experimental; mRNA:increased expression:retina (rat) RGD PMID:19450451 RGD:2314507 NCBI chrNW_004936560:42,561...45,748 JBrowse link
G Cd59 CD59 molecule (CD59 blood group) ISO protein:decreased expression:retina RGD PMID:12453906 RGD:1600487 NCBI chrNW_004936533:4,242,589...4,263,136 JBrowse link
G Cfb complement factor B no_association ISO associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs1048709 (human)
associated with Diabetes Mellitus, Type 2;DNA:SNP: :rs537160, rs4151657, rs2072633 (human)
RGD PMID:23864767 RGD:7365019 NCBI chrNW_004936727:1,595,872...1,602,274 JBrowse link
G Cldn1 claudin 1 treatment ISO RGD PMID:25685822 RGD:11341734 NCBI chrNW_004936578:98,489...113,125 JBrowse link
G Clu clusterin treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:19875648 RGD:9068395 NCBI chrNW_004936675:499,745...513,515 JBrowse link
G Crp C-reactive protein ISO protein:increased expression:serum:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:20012460 RGD:8547537 NCBI chrNW_004936740:885,855...888,854 JBrowse link
G Cxcl10 C-X-C motif chemokine ligand 10 ISO RGD PMID:17194635 RGD:2311361 NCBI chrNW_004936676:60,869...63,028 JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 severity ISO protein:increased expression:vitreous humor RGD PMID:15630447 RGD:2306559 NCBI chrNW_004936617:4,224,131...4,239,080 JBrowse link
G Edn1 endothelin 1 ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:increased secretion:plasma
mRNA:increased expression:retina (rat)
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:exon:p.K198N (human)
RGD PMID:18806884, PMID:19293263, PMID:20628425 RGD:2313279, RGD:2313281, RGD:9068929 NCBI chrNW_004936534:885,489...892,292 JBrowse link
G Egfr epidermal growth factor receptor treatment ISO protein:increased expression:retina
associated with Diabetes Mellitus, Experimental
RGD PMID:7947554, PMID:23831329 RGD:10059675, RGD:1580957 NCBI chrNW_004936678:365,005...560,546 JBrowse link
G Eln elastin ISO RGD PMID:11707314 RGD:9585734 NCBI chrNW_004936543:3,135,169...3,165,023 JBrowse link
G Eng endoglin ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma,vitreous body RGD PMID:16202216 RGD:1580961 NCBI chrNW_004936487:15,467,165...15,499,180 JBrowse link
G Ep300 E1A binding protein p300 ISO associated with Diabetes Mellitus, Experimental RGD PMID:21885871 RGD:7349382 NCBI chrNW_004936492:696,982...778,132 JBrowse link
G Epo erythropoietin susceptibility ISO associated with Diabetes Mellitus, Experimental
protein:increased expression:serum,vitreous body
DNA:snp:promoter:-1125T>G(rs1617640)(human)
RGD PMID:18235022, PMID:18458324, PMID:18670462, PMID:24508793 RGD:10400906, RGD:2313837, RGD:2313838, RGD:2313890 NCBI chrNW_004936543:742,722...745,332 JBrowse link
G F13a1 coagulation factor XIII A chain ISO protein:increased expression:optic choroid vascular plexus: RGD PMID:11375345 RGD:8693344 NCBI chrNW_004936534:6,199,066...6,360,374 JBrowse link
G F3 coagulation factor III, tissue factor ISO protein:increased expression:aqueous humor,serum RGD PMID:12417540 RGD:2313865 NCBI chrNW_004936537:4,637,028...4,647,915 JBrowse link
G F7 coagulation factor VII ISO associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human) RGD PMID:10837382 RGD:2312398 NCBI chrNW_004936472:505,751...515,375 JBrowse link
G Fgf2 fibroblast growth factor 2 ISO associated with Diabetes Mellitus, Experimental
DNA:polymorphism:promotor:g.-553T>A(human)
DNA:polymorphism:intron:g.754C>G(human)
associated with Pregnancy in Diabetics
RGD PMID:9141532, PMID:14975211, PMID:17997184, PMID:18279437 RGD:2315844, RGD:2315845, RGD:2315875, RGD:2315885 NCBI chrNW_004936662:1,886,176...1,928,998 JBrowse link
G Flt1 fms related receptor tyrosine kinase 1 treatment ISO RGD PMID:17143550, PMID:18174522 RGD:10402119, RGD:2313721 NCBI chrNW_004936472:23,442,946...23,617,523 JBrowse link
G Fuca1 alpha-L-fucosidase 1 ISO associated with Diabetes Mellitus, Experimental;protein:increased activity:retina RGD PMID:10353622 RGD:2315932 NCBI chrNW_004936474:8,995,525...9,012,396 JBrowse link
G Gad2 glutamate decarboxylase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21412422 NCBI chrNW_004936484:1,737,806...1,810,378 JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO associated with Diabetes Mellitus, Experimental RGD PMID:18852331 RGD:2315975 NCBI chrNW_004936709:1,243,149...1,247,782 JBrowse link
G Gc GC vitamin D binding protein ISO protein:increased expression:vitreous body RGD PMID:16080911 RGD:2315548 NCBI chrNW_004936598:3,220,029...3,256,091 JBrowse link
G Ggt1 gamma-glutamyltransferase 1 ISO associated with Diabetes Mellitus,Insulin-Dependent;protein:increased activity:serum RGD PMID:11311965 RGD:2315614 NCBI chrNW_004936619:762,278...791,610 JBrowse link
G Glo1 glyoxalase I ISO DNA:SNP:promoter:-7C>T (human) RGD PMID:21738003 RGD:7242569 NCBI chrNW_004936476:20,910,696...20,928,583 JBrowse link
G Hfe homeostatic iron regulator ISO associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.C282Y (human) RGD PMID:15347835 RGD:8694362 NCBI chrNW_004936671:1,940,079...1,947,574 JBrowse link
G Hgf hepatocyte growth factor disease_progression ISO associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum RGD PMID:15525877, PMID:18335393 RGD:2313565, RGD:8548539 NCBI chrNW_004936734:354,798...428,356 JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha severity
treatment
ISO protein:increased expression:retina, vascular endothelial cell (human)
associated with Diabetes Mellitus, Experimental;protein:increased expression:retina (rat)
RGD PMID:17229797, PMID:20515763, PMID:22110070 RGD:7364887, RGD:8694462, RGD:8696025 NCBI chrNW_004936495:5,770,988...5,816,157 JBrowse link
G Hras HRas proto-oncogene, GTPase ISO RGD PMID:14988264 RGD:1358731 NCBI chrNW_004936888:375,372...378,125 JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.K469E (human)
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:10485912, PMID:18834676, PMID:18942221, PMID:25066112 RGD:11354984, RGD:2313471, RGD:2313472 NCBI chrNW_004936659:616,570...627,172 JBrowse link
G Igf1 insulin like growth factor 1 susceptibility ISO protein:decreased expression:serum RGD PMID:16873705, PMID:17194636 RGD:1598424, RGD:2313764 NCBI chrNW_004936492:11,709,623...11,784,028 JBrowse link
G Igf1r insulin like growth factor 1 receptor disease_progression ISO mRNA:increased expression:retina: RGD PMID:12781065 RGD:10046008 NCBI chrNW_004936483:4,563,995...4,860,231 JBrowse link
G Il10 interleukin 10 susceptibility ISO associated with Diabetes Mellitus, Type 2
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor
RGD PMID:16696964, PMID:18978347, PMID:18988929, PMID:22105495 RGD:1598486, RGD:2307061, RGD:2307272, RGD:7364856 NCBI chrNW_004936557:5,834,874...5,838,502 JBrowse link
G Il18 interleukin 18 ISO associated with Diabetes Mellitus, Type 2;protein:increased expression:serum RGD PMID:16260350, PMID:19011009 RGD:4889417, RGD:8655907 NCBI chrNW_004936612:2,306,963...2,325,086 JBrowse link
G Il1a interleukin 1 alpha ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor RGD PMID:18978347 RGD:2307061 NCBI chrNW_004936783:1,210,715...1,218,315 JBrowse link
G Il1b interleukin 1 beta ISO protein:increased expression:serum, vitreous humour
associated with Diabetes Mellitus, Type 2; protein:decreased tyrosine phosphorylation:vitreous humor
RGD PMID:16284605, PMID:18978347 RGD:2307061, RGD:7401212 NCBI chrNW_004936783:1,251,678...1,256,807 JBrowse link
G Ins insulin ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:22046295, PMID:30463601 RGD:6902909 NCBI chrNW_004936816:1,002,137...1,003,357 JBrowse link
G Itga2 integrin subunit alpha 2 severity
susceptibility
no_association
ISO associated with Diabetes Mellitus; DNA:transition:cds:807C>T (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:intron:IVS7+3160A>G (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:intron:IVS8-1059T>C (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:cds:c.807T>C (human)
RGD PMID:12540964, PMID:18806884, PMID:21632096, PMID:23776381 RGD:2307419, RGD:2313281, RGD:7777103, RGD:8686431 NCBI chrNW_004936480:14,320,292...14,417,828 JBrowse link
G Itga4 integrin subunit alpha 4 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:19553613 RGD:9698417 NCBI chrNW_004936509:10,215,283...10,293,653 JBrowse link
G Itgb3 integrin subunit beta 3 ISO protein:increased expression:optic choroid vascular plexus: RGD PMID:11375345 RGD:8693344 NCBI chrNW_004936541:2,822,789...2,871,069 JBrowse link
G Kcnj10 potassium inwardly rectifying channel subfamily J member 10 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:21672350, PMID:22143324 RGD:8662869, RGD:8662907 NCBI chrNW_004936740:555,948...589,219 JBrowse link
G Kdm1a lysine demethylase 1A ISO mRNA:increased expression:retina (human)
mRNA, protein:increased expression:retina (rat)
RGD PMID:23423566 RGD:8547881 NCBI chrNW_004936474:8,262,913...8,319,089 JBrowse link
G Keap1 kelch like ECH associated protein 1 ISO associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:retina RGD PMID:23633659 RGD:10412733 NCBI chrNW_004936659:785,059...793,775 JBrowse link
G LOC101967032 cytochrome b-245 light chain ISO associated with Diabetes Mellitus, Experimental RGD PMID:19685553 RGD:2317854 NCBI chrNW_004936641:1,036,967...1,044,954 JBrowse link
G LOC101968921 angiotensin-converting enzyme no_association
susceptibility
ISO associated with Diabetes Mellitus, Type 1;DNA:deletion:intron:IVS16+1464-1751del (human)
associated with Diabetes Mellitus, Type 2;protein:increased expression:serum (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:exon:g.2350G>A (rs4343) (human)
associated with Diabetes Mellitus, Type 2;DNA:deletion:intron:IVS16+1464-1751del (human)
RGD PMID:2157294, PMID:7729604, PMID:11106834, PMID:23065222 RGD:7829780, RGD:7829783, RGD:7829794, RGD:8142360 NCBI chrNW_004936541:4,157,847...4,178,156 JBrowse link
G LOC101969021 somatotropin ISO RGD PMID:3183302 RGD:2315688 NCBI chrNW_004936541:4,524,397...4,528,234 JBrowse link
G Lta lymphotoxin alpha susceptibility
no_association
ISO associated with Diabetes Mellitus, Type 2;DNA:polymorphism:
associated with Diabetes Mellitus, Type 2;DNA:polymorphism:intron, exon:252A>G, 804C>A (human)
RGD PMID:11399938, PMID:16979413 RGD:8548772, RGD:8548797 NCBI chrNW_004936727:1,940,081...1,941,022 JBrowse link
G Mfn2 mitofusin 2 ISO associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression:retina (rat) RGD PMID:28487236 RGD:12910715 NCBI chrNW_004936474:767,754...795,258 JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:plasma RGD PMID:12714657, PMID:18552985 RGD:1582582, RGD:8547849 NCBI chrNW_004936475:7,801,356...7,825,831 JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO associated with Diabetes Mellitus, Type 2
associated with Diabetes Mellitus, Experimental
RGD PMID:10374894, PMID:16643893, PMID:21933988 RGD:1582616, RGD:8547815, RGD:8547857 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human) RGD PMID:9040583 RGD:6893525 NCBI chrNW_004936474:623,438...637,849 JBrowse link
G Mysm1 Myb like, SWIRM and MPN domains 1 susceptibility ISO associated with Diabetes Mellitus, Type 2;DNA:snps:introns: IVS1-1269C>T, IVS6+1700G>A (rs2811893, rs12092121) (human) RGD PMID:21310492 RGD:9589162 NCBI chrNW_004936522:3,105,018...3,143,215 JBrowse link
G Nfe2l2 nuclear factor, erythroid 2 like 2 ISO associated with Diabetes Mellitus, Experimental;protein:decreased activity:retina RGD PMID:23633659 RGD:10412733 NCBI chrNW_004936509:6,589,967...6,621,171 JBrowse link
G Ngf nerve growth factor ISO protein:increased expression:serum RGD PMID:18282491 RGD:7242804 NCBI chrNW_004936627:635,784...641,290 JBrowse link
G Nos1 nitric oxide synthase 1 ISO mRNA, protein:decreased expression:retina RGD PMID:17545029 RGD:1642141 NCBI chrNW_004936558:5,162,471...5,302,488 JBrowse link
G Nos3 nitric oxide synthase 3 treatment
susceptibility
onset
no_association
severity
ISO associated with Diabetes Mellitus, Type 1;DNA:duplication:intron:IVS4?-?+27 (human)
associated with Diabetes Mellitus, Experimental
associated with Diabetes Mellitus, Type 2;DNA:snps, duplication, haplotype:promoter, cds, intron:g.-786T>C, p.E298N, IVS4?-?+27 (human)
associated with Diabetes Mellitus, Type 2;DNA:snp:exon:c.894G>T (human)
DNA:snps:promoter, exon:c.-786T>C, c.774C>T (human)
associated with Diabetes Mellitus, Type 2;DNA:duplication:intron:IVS4?-?+27 (human)
associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:retina (rat)
RGD PMID:11918626, PMID:15890549, PMID:16581274, PMID:17558849, PMID:17973941, PMID:18840783, PMID:20435587, PMID:22017289, PMID:23059402, PMID:23776381 RGD:7421531, RGD:7421532, RGD:7421533, RGD:7771565, RGD:7771568, RGD:7771569, RGD:7771606, RGD:7775042, RGD:7777101, RGD:7777103 NCBI chrNW_004936527:6,427,147...6,445,770 JBrowse link
G Nppa natriuretic peptide A ISO protein:increased expression:vitreous humor RGD PMID:15273657 RGD:2313589 NCBI chrNW_004936474:671,362...673,610 JBrowse link
G Npr3 natriuretic peptide receptor 3 ISO mRNA:decreased expression:retina (rat) RGD PMID:15789000 RGD:1580773 NCBI chrNW_004936518:8,093,111...8,158,862 JBrowse link
G Nutf2 nuclear transport factor 2 treatment ISO mRNA:decreased expression:peripheral blood: RGD PMID:19404486 RGD:9831377 NCBI chrNW_004936475:18,214,593...18,232,406 JBrowse link
G Ocln occludin treatment ISO RGD PMID:25685822 RGD:11341734 NCBI chrNW_004936480:99,516...152,834 JBrowse link
G Pgf placental growth factor ISO associated with Diabetes Mellitus, Type 2 RGD PMID:21408222 RGD:6483775 NCBI chrNW_004936488:4,098,187...4,111,108 JBrowse link
G Pon1 paraoxonase 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism:promoter:g.-907C>G (human)
associated with Diabetes Mellitus;DNA:missense mutation:cds:p.L55M (rs854560) (human)
associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.Q192R (human)
associated with Diabetes Mellitus, Type 1;protein:decreased activity:serum (human)
CTD
RGD
PMID:9661650, PMID:15270786, PMID:16949520, PMID:20012460, PMID:24100645 RGD:2313272, RGD:8547537, RGD:8547548, RGD:8547572 NCBI chrNW_004936585:4,954,871...4,979,560 JBrowse link
G Pparg peroxisome proliferator activated receptor gamma ISO Retinal Leukostasis;associated with Diabetes Mellitus, Experimental RGD PMID:17003451 RGD:8552824 NCBI chrNW_004936602:1,230,907...1,368,588 JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO associated with Diabetes Mellitus, Experimental; mRNA:increased expression:retina (rat) RGD PMID:20566666, PMID:22003111 RGD:5686899, RGD:6484532 NCBI chrNW_004936477:4,881,230...5,488,208 JBrowse link
G Retn resistin ISO associated with Diabetes Mellitus, Type 2 RGD PMID:17303077 RGD:7207162 NCBI chrNW_004936588:4,705,295...4,706,653 JBrowse link
G Serpine1 serpin family E member 1 no_association
susceptibility
ISO associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human)
associated with Diabetes Mellitus;repeat, snp:intron, 3' utr:g.7844(CA)1-6, ? (human)
associated with Diabetes Mellitus, Type 2;DNA:deletion:promoter:g.-676_-674delG (human)
associated with Diabetes Mellitus, Type 2;DNA:snp, deletion:promoter:g.-844G>A, g.-676_-674delG (human)
RGD PMID:7974340, PMID:9201602, PMID:12660488, PMID:19419896, PMID:23281898 RGD:8547697, RGD:8547699, RGD:8547710, RGD:8547740, RGD:8547741 NCBI chrNW_004936543:1,032,543...1,040,956 JBrowse link
G Serpinf1 serpin family F member 1 severity ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:vitreous humor
associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:retina
protein:alternative form:vitreous humor
associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum
associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNPs:promoter:g.-5740T>C, g.-5308G>A (rs12150053, rs12948385) (human)
RGD PMID:15059706, PMID:16054135, PMID:17658465, PMID:18025835, PMID:18455830, PMID:19365032 RGD:1580135, RGD:2312337, RGD:2312341, RGD:2312344, RGD:2312346, RGD:2312348 NCBI chrNW_004936538:7,885,816...7,898,308 JBrowse link
G Sgf29 SAGA complex associated factor 29 severity ISO associated with Diabetes Mellitus, Type 1; DNA:SNP:intron: rs10521145(human) RGD PMID:21441570 RGD:9587455 NCBI chrNW_004936501:12,008,601...12,024,113 JBrowse link
G Sirt1 sirtuin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24894401 NCBI chrNW_004936521:10,296,097...10,316,673 JBrowse link
G Sod1 superoxide dismutase 1 ISO human gene in a mouse model
CTD Direct Evidence: therapeutic
RGD
CTD
PMID:19074809 RGD:8655572 NCBI chrNW_004936500:10,345,154...10,352,873 JBrowse link
G Thbs1 thrombospondin 1 ISO associated with Diabetes Mellitus, Experimental
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17117553 RGD:2317943 NCBI chrNW_004936471:3,064,466...3,081,125 JBrowse link
G Timm44 translocase of inner mitochondrial membrane 44 ISO associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:retina RGD PMID:22003103 RGD:13463597 NCBI chrNW_004936588:4,902,462...4,917,081 JBrowse link
G Tlr4 toll like receptor 4 onset ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.N299G (human) RGD PMID:19135114 RGD:2312487 NCBI chrNW_004936487:6,519,140...6,532,018 JBrowse link
G Tnf tumor necrosis factor no_association
disease_progression
ISO protein:increased expression:serum, vitreous humour
associated with Diabetes Mellitus, Type 2;DNA:polymorphism:promoter:-302A>G (human)
associated with Diabetes Mellitus, Type 1;protein:increased expression:platelet:
RGD PMID:10540181, PMID:16284605, PMID:16979413, PMID:22105495 RGD:7364856, RGD:7394805, RGD:7401212, RGD:8548772 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
G Uts2 urotensin 2 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma RGD PMID:18338983 RGD:2306795 NCBI chrNW_004936623:2,339,259...2,345,717 JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:vitreous humor, serum RGD PMID:19237221 RGD:2312762 NCBI chrNW_004936748:785,491...802,791 JBrowse link
G Vdr vitamin D receptor ISO RGD PMID:15899948 RGD:1580363 NCBI chrNW_004936512:5,741,836...5,800,999 JBrowse link
G Vegfa vascular endothelial growth factor A ISO associated with Diabetes Mellitus, type 2; protein:increased expression:aqueous humor of eyeball:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:9852717, PMID:11978667, PMID:15788408, PMID:16636650, PMID:17513698, PMID:20577866 RGD:1580565, RGD:2301992, RGD:8547996 NCBI chrNW_004936476:16,245,134...16,261,180 JBrowse link
G Vtn vitronectin ISO associated with Diabetes Mellitus, Experimental RGD PMID:7536680, PMID:8804356 RGD:10040982, RGD:1580818 NCBI chrNW_004936538:4,522,275...4,525,245 JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:10077454 RGD:1580648 NCBI chrNW_004936709:1,578,137...1,741,877 JBrowse link
distal arthrogryposis type 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo type mechanosensitive ion channel component 2 ISO OMIM NCBI chrNW_004936626:802,415...1,141,260 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
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy, mental retardation, and absence of erg b-wave ClinVar PMID:8817332 NCBI chrNW_004936553:7,157,526...7,943,703 JBrowse link
Eales Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il10 interleukin 10 ISO DNA:SNP, haplotype:promoter RGD PMID:20720222 RGD:7364860 NCBI chrNW_004936557:5,834,874...5,838,502 JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:19585364 RGD:7401211 NCBI chrNW_004936783:1,251,678...1,256,807 JBrowse link
G Tnf tumor necrosis factor disease_progression
severity
ISO DNA:SNP, haplotype:promoter
protein:increased expression:serum:
protein:increased expression:vitreous fluid:
RGD PMID:19585364, PMID:20720222, PMID:21139707, PMID:21394064, PMID:21849807 RGD:7364860, RGD:7387275, RGD:7387277, RGD:7394772, RGD:7401211 NCBI chrNW_004936727:1,936,066...1,937,766 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
Experimental Autoimmune Uveoretinitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO RGD PMID:16143328 RGD:7401262 NCBI chrNW_004936588:3,985,732...4,023,221 JBrowse link
G Cd40lg CD40 ligand treatment ISO RGD PMID:15972638 RGD:8547777 NCBI chrNW_004936513:10,607,617...10,620,403 JBrowse link
G Cfb complement factor B treatment ISO RGD PMID:20806290, PMID:21216963 RGD:7411717, RGD:7411732 NCBI chrNW_004936727:1,595,872...1,602,274 JBrowse link
G Icam1 intercellular adhesion molecule 1 treatment ISO RGD PMID:7909311 RGD:8547706 NCBI chrNW_004936659:616,570...627,172 JBrowse link
G Ifng interferon gamma ISO mRNA,protein:increased expression:eye: RGD PMID:1572694 RGD:8142388 NCBI chrNW_004936545:6,139,130...6,144,543 JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:11359436, PMID:15240742, PMID:21296818, PMID:22629453 RGD:7364830, RGD:7364849, RGD:7365075, RGD:7365084 NCBI chrNW_004936557:5,834,874...5,838,502 JBrowse link
G Il2 interleukin 2 disease_progression ISO mRNA:increased expression:uvea: RGD PMID:7803357, PMID:7929845 RGD:8662946, RGD:8662951 NCBI chrNW_004936662:1,594,953...1,599,625 JBrowse link
G Il4 interleukin 4 disease_progression ISO mRNA:increased expression:uvea: RGD PMID:7803357 RGD:8662946 NCBI chrNW_004936647:2,510,457...2,518,576 JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO RGD PMID:18424728 RGD:8694299 NCBI chrNW_004936490:17,119,189...17,178,402 JBrowse link
G Tnfrsf1a TNF receptor superfamily member 1A ISO RGD PMID:19635911 RGD:8661744 NCBI chrNW_004936709:1,407,327...1,421,448 JBrowse link
exudative vitreoretinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy ClinVar PMID:30311386 NCBI chrNW_004936472:2,416,043...2,543,561 JBrowse link
G Fzd4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Familial exudative vitreoretinopathy
ClinVar Annotator: match by term: Exudative vitreoretinopathy
ClinVar PMID:14507768, PMID:15035989, PMID:20340138, PMID:20938005, PMID:24033266, PMID:24744206, PMID:25711638, PMID:25741868, PMID:26908610, PMID:27316669, PMID:30311386 NCBI chrNW_004936498:14,657,641...14,666,853 JBrowse link
G Lrp5 LDL receptor related protein 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial exudative vitreoretinopathy
CTD
ClinVar
PMID:8832721, PMID:11719191, PMID:11956231, PMID:15024691, PMID:15824851, PMID:16252235, PMID:18602879, PMID:25711638, PMID:28041643, PMID:28492532, PMID:29207047 NCBI chrNW_004936599:1,746,309...1,814,471 JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy ClinVar PMID:30311386 NCBI chrNW_004936538:7,780,022...7,814,575 JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Familial exudative vitreoretinopathy
ClinVar Annotator: match by term: Exudative vitreoretinopathy
ClinVar PMID:14507768, PMID:15035989, PMID:20340138, PMID:20938005, PMID:24033266, PMID:24744206, PMID:25711638, PMID:25741868, PMID:26908610, PMID:27316669, PMID:30311386 NCBI chrNW_004936498:14,560,730...14,563,195 JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy ClinVar PMID:30311386 NCBI chrNW_004936618:3,678,400...4,047,994 JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Familial exudative vitreoretinopathy
ClinVar Annotator: match by term: Exudative vitreoretinopathy
ClinVar PMID:25250762, PMID:28041643, PMID:30311386 NCBI chrNW_004936605:4,265,475...4,338,518 JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Familial exudative vitreoretinopathy ClinVar NCBI chrNW_004936562:2,394,368...2,400,924 JBrowse link
exudative vitreoretinopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc81 coiled-coil domain containing 81 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938, PMID:21681106 NCBI chrNW_004936498:14,163,335...14,202,715 JBrowse link
G Ccdc83 coiled-coil domain containing 83 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938, PMID:21681106 NCBI chrNW_004936498:13,711,613...13,767,373 JBrowse link
G Ccdc89 coiled-coil domain containing 89 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938, PMID:21681106 NCBI chrNW_004936498:13,569,401...13,570,751 JBrowse link
G Crebzf CREB/ATF bZIP transcription factor ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938, PMID:21681106 NCBI chrNW_004936498:13,547,968...13,553,846 JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:28575650 NCBI chrNW_004936473:29,999,542...30,034,610 JBrowse link
G Dlg2 discs large MAGUK scaffold protein 2 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938, PMID:21681106 NCBI chrNW_004936498:11,549,526...13,519,638 JBrowse link
G Eed embryonic ectoderm development ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938, PMID:21681106 NCBI chrNW_004936498:14,050,731...14,082,410 JBrowse link
G Fzd4 frizzled class receptor 4 ISO OMIM NCBI chrNW_004936498:14,657,641...14,666,853 JBrowse link
G Hikeshi heat shock protein nuclear import factor hikeshi ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938, PMID:21681106 NCBI chrNW_004936498:14,110,382...14,138,095 JBrowse link
G Lrp5 LDL receptor related protein 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936599:1,746,309...1,814,471 JBrowse link
G Me3 malic enzyme 3 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938, PMID:21681106 NCBI chrNW_004936498:14,216,510...14,422,936 JBrowse link
G Picalm phosphatidylinositol binding clathrin assembly protein ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938, PMID:21681106 NCBI chrNW_004936498:13,785,638...13,885,931 JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1
ClinVar Annotator: match by term: FEVR, AUTOSOMAL DOMINANT
ClinVar PMID:12172548, PMID:14507768, PMID:15035989, PMID:15488808, PMID:15981244, PMID:20340138, PMID:20938005, PMID:21097938, PMID:21681106, PMID:24033266, PMID:24744206, PMID:25711638, PMID:25741868, PMID:26908610, PMID:27316669, PMID:28492532 NCBI chrNW_004936498:14,560,730...14,563,195 JBrowse link
G Sytl2 synaptotagmin like 2 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938, PMID:21681106 NCBI chrNW_004936498:13,577,839...13,681,782 JBrowse link
G Tmem126a transmembrane protein 126A ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938, PMID:21681106 NCBI chrNW_004936498:13,538,565...13,545,338 JBrowse link
G Tmem126b transmembrane protein 126B ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938, PMID:21681106 NCBI chrNW_004936498:13,519,751...13,526,770 JBrowse link
G Tmem135 transmembrane protein 135 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:21097938, PMID:21681106 NCBI chrNW_004936736:1,986,361...2,113,455 JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Exudative vitreoretinopathy 1 ClinVar PMID:23716654, PMID:27316669, PMID:28492532 NCBI chrNW_004936562:2,394,368...2,400,924 JBrowse link
exudative vitreoretinopathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO OMIM NCBI chrNW_004936599:1,746,309...1,814,471 JBrowse link
exudative vitreoretinopathy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tspan12 tetraspanin 12 ISO OMIM NCBI chrNW_004936605:4,265,475...4,338,518 JBrowse link
exudative vitreoretinopathy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Znf408 zinc finger protein 408 ISO OMIM NCBI chrNW_004936562:2,394,368...2,400,924 JBrowse link
exudative vitreoretinopathy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO OMIM NCBI chrNW_004936473:29,999,542...30,034,610 JBrowse link
familial benign fleck retina term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g5 phospholipase A2 group V ISO OMIM NCBI chrNW_004936474:6,131,915...6,150,810 JBrowse link
familial retinoblastoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rb1 RB transcriptional corepressor 1 ISO DNA:mutations:promoter, intron, exon:multiple RGD PMID:17096365 RGD:8547984 NCBI chrNW_004936565:1,596,227...1,746,706 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, PMID:30311386 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:10874630, PMID:11179009, PMID:11567139, PMID:16582908, PMID:16823392, PMID:17980398, PMID:20080638, PMID:20120035, PMID:20177705, PMID:20472660, PMID:20498079, PMID:20805367, PMID:20876674, PMID:21044901, PMID:21157496, PMID:21209035, PMID:21344540, PMID:21517826, PMID:21642631, PMID:22353939, PMID:22410627, PMID:22713813, 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:30311386, 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:28492532, PMID:30311386 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: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