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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:eye degenerative disease
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Accession:DOID:9799 term browser browse the term
Synonyms:exact_synonym: eye degenerative diseases
 primary_id: RDO:9003063
 xref: ICD10CM:H44.5;   ICD9CM:360.4
For additional species annotation, visit the Alliance of Genome Resources.


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age related macular degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED ClinVar PMID:8002831, PMID:9054934, PMID:9295268, PMID:9466990, PMID:9781034, PMID:9973280, PMID:10090887, PMID:10206579, PMID:10396622, PMID:10634594, PMID:10711710, PMID:10958763, PMID:11017087, PMID:11328725, PMID:11379881, PMID:11527935, PMID:11726554, PMID:11919200, PMID:12037008, PMID:12515255, PMID:12796258, PMID:14709597, PMID:15192030, PMID:15494742, PMID:15579991, PMID:16103129, PMID:16546111, PMID:16682602, PMID:17277736, PMID:18285826, PMID:18854780, PMID:18977788, PMID:19074458, PMID:19217903, PMID:19230850, PMID:20696155, PMID:21786275, PMID:22025579, PMID:22229821, PMID:22264887, PMID:22312191, PMID:22427542, PMID:22661473, PMID:23143460, PMID:23419329, PMID:23755871, PMID:23769331, PMID:24033266, PMID:24265693, PMID:24509150, PMID:24713488, PMID:25082885, PMID:25087612, PMID:25097241, PMID:25283059, PMID:25312043, PMID:25640233, PMID:25698705, PMID:25712131, PMID:25741868, PMID:25921964, PMID:26355662, PMID:26527198, PMID:26593885, PMID:27032803, PMID:27491360, PMID:27535533, PMID:27939946, PMID:28041643, PMID:28118664, PMID:28181551, PMID:28327576, PMID:28446513, PMID:28492532, PMID:28559085, PMID:29099798, PMID:29114839, PMID:29555955, PMID:29847635, PMID:29925512, PMID:30054919, PMID:30060493, PMID:30093795, PMID:30311386, PMID:30718709, PMID:92952680 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISS MouseDO NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISS MouseDO
G Cd46 CD46 molecule ISS MouseDO NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link
G Cfhr1 complement factor H-related 1 ISO ClinVar Annotator: match by term: Age-related macular degeneration ClinVar PMID:16998489, PMID:17367211, PMID:18006700, PMID:20843825 NCBI chr13:56,862,666...56,877,650
Ensembl chr13:56,836,994...56,877,650
JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-1894G>A (rs3793917) (human) RGD PMID:22618592 RGD:7394695 NCBI chr 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
JBrowse link
G Mdm1 Mdm1 nuclear protein ISS MouseDO NCBI chr 7:61,165,652...61,200,865
Ensembl chr 7:61,165,640...61,200,879
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISS MouseDO NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G RGD1564614 similar to complement factor H-related protein ISO ClinVar Annotator: match by term: Age-related macular degeneration ClinVar PMID:16998489, PMID:17367211, PMID:18006700, PMID:20843825 NCBI chr13:56,889,669...56,958,549
Ensembl chr13:56,889,669...56,958,561
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 chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Cfhr1 complement factor H-related 1 ISO OMIM NCBI chr13:56,862,666...56,877,650
Ensembl chr13:56,836,994...56,877,650
JBrowse link
G Cryba1 crystallin, beta A1 ISS OMIM:603075 MouseDO NCBI chr10:65,160,777...65,167,504
Ensembl chr10:65,161,152...65,167,494
JBrowse link
G Hmcn1 hemicentin 1 ISO ClinVar Annotator: match by term: Age-related macular degeneration 1
ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 1
ClinVar Annotator: match by OMIM:603075
OMIM
ClinVar
PMID:9715689, PMID:14570714, PMID:17216616, PMID:25133751, PMID:25338956, PMID:25986072, PMID:27007659, PMID:28492532 NCBI chr13:67,799,791...68,360,664
Ensembl chr13:67,799,791...68,360,664
JBrowse link
G RGD1564614 similar to complement factor H-related protein ISO ClinVar Annotator: match by term: Age-related macular degeneration 1 OMIM
ClinVar
PMID:25741868 NCBI chr13:56,889,669...56,958,549
Ensembl chr13:56,889,669...56,958,561
JBrowse link
G Vldlr very low density lipoprotein receptor ISS OMIM:603075 MouseDO NCBI chr 1:245,236,819...245,273,688
Ensembl chr 1:245,237,736...245,269,205
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 chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
age related macular degeneration 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cst3 cystatin C ISO ClinVar Annotator: match by OMIM:611953 OMIM
ClinVar
PMID:11815350, PMID:25893795 NCBI chr 3:143,219,671...143,223,544
Ensembl chr 3:143,219,686...143,223,615
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 chr 8:128,740,756...128,754,514
Ensembl chr 8:128,740,756...128,754,514
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
ClinVar
CTD
OMIM
PMID:20203157, PMID:20513133, PMID:23685748, PMID:25986072 NCBI chr 2:235,264,149...235,305,779
Ensembl chr 2:235,264,219...235,305,781
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 ClinVar Annotator: match by term: Age-related macular degeneration 14
ClinVar Annotator: match by OMIM:615489
OMIM
ClinVar
PMID:2249879, PMID:6308626, PMID:8181962, PMID:9670930, PMID:16518403, PMID:16936732, PMID:18806293, PMID:22440158, PMID:24033266 NCBI chr20:4,542,340...4,561,152
Ensembl chr20:4,542,340...4,561,152
JBrowse link
G Cfb complement factor B ISO ClinVar Annotator: match by term: Age-related macular degeneration 14 OMIM
ClinVar
PMID:2249879, PMID:6308626, PMID:8181962, PMID:16518403, PMID:16936732, PMID:18806293, PMID:22440158, PMID:24033266 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
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
ClinVar
CTD
OMIM
PMID:24036952 NCBI chr 2:55,775,562...55,823,807
Ensembl chr 2:55,775,274...55,823,826
JBrowse link
age related macular degeneration 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 2
ClinVar Annotator: match by term: Age-related macular degeneration 2
ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
OMIM
ClinVar
PMID:8002831, PMID:9054934, PMID:9295268, PMID:9466990, PMID:9781034, PMID:9973280, PMID:10090887, PMID:10206579, PMID:10396622, PMID:10634594, PMID:10711710, PMID:10880298, PMID:10958763, PMID:11017087, PMID:11328725, PMID:11346402, PMID:11379881, PMID:11527935, PMID:11726554, PMID:11919200, PMID:12037008, PMID:12515255, PMID:12796258, PMID:14709597, PMID:15192030, PMID:15494742, PMID:15579991, PMID:15614537, PMID:16103129, PMID:16546111, PMID:16682602, PMID:17277736, PMID:18285826, PMID:18854780, PMID:18977788, PMID:19074458, PMID:19217903, PMID:19230850, PMID:20696155, PMID:21786275, PMID:22025579, PMID:22229821, PMID:22264887, PMID:22312191, PMID:22328824, PMID:22427542, PMID:22661473, PMID:23143460, PMID:23419329, PMID:23443024, PMID:23591405, PMID:23695285, PMID:23755871, PMID:23769331, PMID:24033266, PMID:24265693, PMID:24509150, PMID:24713488, PMID:25082885, PMID:25087612, PMID:25097241, PMID:25283059, PMID:25312043, PMID:25525159, PMID:25640233, PMID:25698705, PMID:25712131, PMID:25741868, PMID:25921964, PMID:26261413, PMID:26355662, PMID:26527198, PMID:26593885, PMID:26872967, PMID:26976702, PMID:27032803, PMID:27491360, PMID:27535533, PMID:27775217, PMID:27939946, PMID:28041643, PMID:28118664, PMID:28181551, PMID:28327576, PMID:28446513, PMID:28492532, PMID:28559085, PMID:29099798, PMID:29114839, PMID:29310964, PMID:29461686, PMID:29555955, PMID:29847635, PMID:29925512, PMID:30054919, PMID:30060493, PMID:30093795, PMID:30311386, PMID:30718709, PMID:92952680 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
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 ClinVar Annotator: match by term: Age-related macular degeneration 3
ClinVar Annotator: match by OMIM:608895
OMIM
ClinVar
PMID:15269314, PMID:16374472, PMID:16652333, PMID:17035250, PMID:19194475, PMID:20007835, PMID:20599547, PMID:21576112, PMID:23328402, PMID:24033266, PMID:25741868, PMID:28492532, PMID:28765615 NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944
JBrowse link
age related macular degeneration 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfh complement factor H ISO ClinVar Annotator: match by term: Age-related macular degeneration 4 OMIM
ClinVar
PMID:8072530, PMID:11158219, PMID:11978762, PMID:12424708, PMID:12697737, PMID:15761120, PMID:15761121, PMID:15761122, PMID:15870199, PMID:15895326, PMID:16229850, PMID:16299065, PMID:16619239, PMID:16630992, PMID:16710702, PMID:16787919, PMID:16816528, PMID:16936732, PMID:16936733, PMID:17018561, PMID:17079491, PMID:17198853, PMID:17210858, PMID:17241667, PMID:17293598, PMID:17360715, PMID:17396242, PMID:17398321, PMID:17472578, PMID:17947292, PMID:18252232, PMID:18252712, PMID:18557729, PMID:19190809, PMID:19259132, PMID:19297022, PMID:20660596, PMID:21415311, PMID:21670343, PMID:21909106, PMID:21930971, PMID:21979047, PMID:22019782, PMID:22171659, PMID:22223606, PMID:22389686, PMID:22403278, PMID:22456601, PMID:23852337, PMID:24036949, PMID:24498017, PMID:24906858, PMID:25037630, PMID:25741868, PMID:25814826, PMID:25880396, PMID:26559391, PMID:28492532 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
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 OMIM:613761
ClinVar Annotator: match by term: Age-related macular degeneration 5
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
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 chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
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 chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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 chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility
severity
ISO ClinVar Annotator: match by OMIM:610149
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
ClinVar
PMID:17053108, PMID:17053109, PMID:17568988, PMID:18511946, PMID:19259132, PMID:18207215, PMID:18436811, PMID:19796758, PMID:19933195, PMID:20157352 RGD:7394722, RGD:7394721, RGD:7394719, RGD:7394713, RGD:7387295 NCBI chr 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
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 ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Age-related macular degeneration 9
OMIM
ClinVar
PMID:1976733, PMID:7870343, PMID:14639503, PMID:16687714, PMID:17634448, PMID:17767156, PMID:18325906, PMID:18796626, PMID:19168221, PMID:19259132, PMID:20595690, PMID:20664795, PMID:21576320, PMID:22718507, PMID:23112567, PMID:23314101, PMID:23431077, PMID:23455636, PMID:24036949, PMID:24036950, PMID:24036952, PMID:24736606, PMID:24845532, PMID:25608561, PMID:25741868, PMID:25951460, PMID:26613027, PMID:28492532 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
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
ClinVar Annotator: match by term: Alstrom syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:203800
DNA:frameshift mutations, nonsense mutations, missense mutations:multiple
DNA:nonsense mutations, frameshift mutation, missense mutation:multiple
ClinVar
CTD
OMIM
PMID:9063741, PMID:9409865, PMID:11941369, PMID:11941370, PMID:15689433, PMID:16720663, PMID:17594715, PMID:17850632, PMID:18038714, PMID:18154657, PMID:18414213, PMID:19763152, PMID:20307669, PMID:21157496, PMID:21877133, PMID:21897446, PMID:21901789, PMID:21943378, PMID:22406018, PMID:22447358, PMID:22555271, PMID:22773737, PMID:22876109, PMID:23188138, PMID:23847139, PMID:24033266, PMID:24049434, PMID:24400638, PMID:24462884, PMID:24595103, PMID:25296579, PMID:25468891, PMID:25533962, PMID:25706677, PMID:25741868, PMID:25846608, PMID:25999675, PMID:26010121, PMID:26047050, PMID:26104972, PMID:26111748, PMID:26239645, PMID:26283575, PMID:26285675, PMID:26467025, PMID:26636822, PMID:26992781, PMID:27178444, PMID:27665122, PMID:28402684, PMID:28432734, PMID:28492532, PMID:28502102, PMID:28717663, PMID:29079548, PMID:29345162, PMID:29610177, PMID:29715191, PMID:32581362, PMID:11941369, PMID:16720663, PMID:22876109, PMID:16000322, PMID:16513793 RGD:1601169, RGD:8696018, RGD:8696016, RGD:8696015, RGD:8696013 NCBI chr 4:117,371,544...117,472,310
Ensembl chr 4:117,371,659...117,472,198
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 chr 9:43,049,587...43,088,690
Ensembl chr 9:43,049,587...43,088,702
JBrowse link
arcus senilis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kera keratocan ISO autosomal recessive cornea plana, OMIM:217300 RGD PMID:10802664 RGD:1600335 NCBI chr 7:38,858,062...38,865,515
Ensembl chr 7:38,858,062...38,865,515
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 ClinVar Annotator: match by term: Vitreoretinochoroidopathy
ClinVar Annotator: match by OMIM:193220
ClinVar Annotator: match by synonym: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
OMIM
ClinVar
PMID:10453731, PMID:10798642, PMID:10854112, PMID:11585313, PMID:11713080, PMID:12543751, PMID:13534955, PMID:14615048, PMID:15452077, PMID:16754206, PMID:17110374, PMID:17898294, PMID:18179881, PMID:18611979, PMID:21192766, PMID:21273940, PMID:21330666, PMID:21809908, PMID:21825197, PMID:22162627, PMID:22183385, PMID:22422030, PMID:23290749, PMID:24033266, PMID:25741868, PMID:26200502, PMID:26333019, PMID:27519691, PMID:28492532, PMID:28687848, PMID:30311386, PMID:30718709 NCBI chr 1:226,033,146...226,049,893
Ensembl chr 1:226,030,875...226,049,929
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 chr 1:226,030,940...226,033,228
Ensembl chr 1:226,030,938...226,033,228
JBrowse link
basal laminar drusen term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfh complement factor H ISO ClinVar Annotator: match by term: Basal laminar drusen
ClinVar Annotator: match by term: DRUSEN, EARLY ADULT-ONSET, GROUPED
ClinVar Annotator: match by OMIM:126700
OMIM
ClinVar
PMID:8072530, PMID:11158219, PMID:11978762, PMID:12424708, PMID:12697737, PMID:15761120, PMID:15761121, PMID:15761122, PMID:15870199, PMID:15895326, PMID:16229850, PMID:16299065, PMID:16619239, PMID:16630992, PMID:16710702, PMID:16787919, PMID:16816528, PMID:16936733, PMID:17018561, PMID:17079491, PMID:17198853, PMID:17210858, PMID:17241667, PMID:17293598, PMID:17360715, PMID:17396242, PMID:17398321, PMID:17472578, PMID:17947292, PMID:18252232, PMID:18252712, PMID:18557729, PMID:19190809, PMID:19259132, PMID:19297022, PMID:20660596, PMID:21415311, PMID:21670343, PMID:21909106, PMID:21930971, PMID:21979047, PMID:22019782, PMID:22171659, PMID:22223606, PMID:22389686, PMID:22403278, PMID:22456601, PMID:23852337, PMID:24036949, PMID:24498017, PMID:25037630, PMID:25741868, PMID:25814826, PMID:25880396, PMID:26559391, PMID:28492532 NCBI chr13:56,979,155...57,080,540
Ensembl chr13:56,978,607...57,080,622
JBrowse link
bestrophinopathy 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: Bestrophinopathy, autosomal recessive
ClinVar Annotator: match by OMIM:611809
OMIM
ClinVar
PMID:2133066, PMID:9700209, PMID:10788642, PMID:10798642, PMID:10854112, PMID:16754206, PMID:17110374, PMID:17287362, PMID:18179881, PMID:18985398, PMID:20927214, PMID:21192766, PMID:21273940, PMID:21330666, PMID:21412020, PMID:21809908, PMID:21825197, PMID:21878505, PMID:22183385, PMID:22422030, PMID:23290749, PMID:23825107, PMID:24033266, PMID:24560797, PMID:25489231, PMID:25741868, PMID:26200502, PMID:26201355, PMID:26333019, PMID:26720466, PMID:27519691, PMID:28492532, PMID:28687848, PMID:29507198, PMID:29555955, PMID:29668979, PMID:29781975, PMID:30593719, PMID:30718709 NCBI chr 1:226,033,146...226,049,893
Ensembl chr 1:226,030,875...226,049,929
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 chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
JBrowse link
Bietti crystalline corneoretinal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy ClinVar PMID:9054934, PMID:23755871, PMID:28041643, PMID:28492532, PMID:29186038, PMID:30718709 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 ISO ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy
ClinVar Annotator: match by term: Bietti Crystalline Dystrophy
ClinVar Annotator: match by OMIM:210370
OMIM
ClinVar
PMID:15042513, PMID:15937078, PMID:16179904, PMID:17962476, PMID:21565171, PMID:22693542, PMID:22772592, PMID:23221965, PMID:23661369, PMID:24033266, PMID:24480711, PMID:24739949, PMID:25356976, PMID:25593508, PMID:25611614, PMID:25741868, PMID:26971461, PMID:28051075, PMID:28492532, PMID:28848678, PMID:29691984, PMID:30311386 NCBI chr16:50,111,803...50,136,741
Ensembl chr16:50,111,306...50,136,727
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 ClinVar Annotator: match by term: Bothnia retinal dystrophy
ClinVar Annotator: match by term: VASTERBOTTEN DYSTROPHY
OMIM
ClinVar
PMID:10102298, PMID:10102299, PMID:11449319, PMID:12536144, PMID:15953459, PMID:19846785, PMID:20238024, PMID:22183382, PMID:25326637, PMID:25429852, PMID:25741868, PMID:26355662 NCBI chr 1:141,097,789...141,111,375
Ensembl chr 1:141,097,695...141,111,400
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 ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome
ClinVar Annotator: match by term: Boucher Neuhauser syndrome
ClinVar Annotator: match by OMIM:215470
OMIM
ClinVar
PMID:9321767, PMID:24355708, PMID:25033069, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
JBrowse link
Choroidal Dystrophy, Central Areolar 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: MACULAR DYSTROPHY, PROGRESSIVE
ClinVar Annotator: match by term: Choroidal dystrophy, central areolar 2
ClinVar Annotator: match by OMIM:613105
OMIM
ClinVar
PMID:7493155, PMID:8015786, PMID:8302543, PMID:8485576, PMID:8644804, PMID:8675410, PMID:8747448, PMID:8994365, PMID:9010868, PMID:9331261, PMID:9443872, PMID:14510799, PMID:14557183, PMID:18310263, PMID:19038374, PMID:19243827, PMID:24463884, PMID:24629188, PMID:25474345, PMID:25741868, PMID:26161267, PMID:28076437, PMID:28492532, PMID:28559085, PMID:30718709 NCBI chr 9:16,085,933...16,386,176 JBrowse link
choroidal sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Choroidal sclerosis
ClinVar Annotator: match by term: Choroidal dystrophy, central areolar 1
ClinVar
OMIM
PMID:10766140, PMID:10951519, PMID:16505055, PMID:17724218, PMID:20050595, PMID:22695961, PMID:23035049, PMID:25477517, PMID:25741868, PMID:26253563, PMID:26626312, PMID:28492532, PMID:29061346, PMID:29559409, PMID:30718709 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
JBrowse link
G Prph2 peripherin 2 ISO DNA:polymorphism:cds:p.R142W(human)
ClinVar Annotator: match by term: Choroidal dystrophy central areolar
DNA:missense mutation:cds:p.R195L(human)
ClinVar PMID:25741868, PMID:8644804, PMID:16832026 RGD:8553207, RGD:8554858 NCBI chr 9:16,085,933...16,386,176 JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Choroidal dystrophy central areolar ClinVar PMID:25741868 NCBI chr 6:109,693,915...109,910,479
Ensembl chr 6:109,710,781...109,879,607
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 ClinVar Annotator: match by term: Choroideremia
ClinVar Annotator: match by OMIM:303100
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Choroideremia, salla type
OMIM
ClinVar
PMID:1044764, PMID:1302003, PMID:1598901, PMID:7981670, PMID:8477262, PMID:9067750, PMID:9175730, PMID:10447648, PMID:11139690, PMID:12203991, PMID:12827496, PMID:16087855, PMID:16936131, PMID:21905166, PMID:22957832, PMID:25741868, PMID:25912515, PMID:26133251, PMID:27247961, PMID:28098911, PMID:28492532, PMID:28559085 NCBI chr  X:84,666,900...84,821,775
Ensembl chr  X:84,666,900...84,821,775
JBrowse link
G Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO ClinVar Annotator: match by term: Choroideremia ClinVar PMID:30311386 NCBI chr19:10,142,440...10,206,618
Ensembl chr19:10,142,496...10,206,681
JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO ClinVar Annotator: match by term: Choroideremia ClinVar PMID:28492532, PMID:30311386 NCBI chr 4:56,478,383...56,493,987
Ensembl chr 4:56,478,384...56,493,923
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 chr 9:16,085,933...16,386,176 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 chr 1:225,126,732...225,128,740
Ensembl chr 1:225,126,734...225,128,740
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 chr  X:2,066,298...2,116,661
Ensembl chr  X:2,064,486...2,116,656
JBrowse link
Concentric Annular Macular Dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Bull's eye maculopathy
ClinVar Annotator: match by term: Macular dystrophy, concentric annular
ClinVar PMID:10090887, PMID:10958763, PMID:15614537, PMID:18285826, PMID:19074458, PMID:20696155, PMID:22264887, PMID:22328824, PMID:23443024, PMID:23591405, PMID:23695285, PMID:24342785, PMID:24713488, PMID:25082885, PMID:25097241, PMID:25525159, PMID:25544989, PMID:25741868, PMID:26261413, PMID:26872967, PMID:26976702, PMID:27775217, PMID:28041643, PMID:28118664, PMID:28492532, PMID:28559085, PMID:29310964, PMID:29461686, PMID:29925512, PMID:30311386, PMID:30718709, PMID:18024811 RGD:7829711 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Bull's eye maculopathy ClinVar PMID:23806086, PMID:24088041, PMID:25259927, PMID:28492532 NCBI chr 1:77,744,593...77,758,913
Ensembl chr 1:77,745,288...77,750,960
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 ClinVar Annotator: match by term: Cone dystrophy 4 OMIM
ClinVar
PMID:10393054, PMID:18614542, PMID:19615668, PMID:25326637, PMID:25741868, PMID:28492532, PMID:30080950 NCBI chr 1:256,822,099...256,885,879
Ensembl chr 1:256,822,334...256,877,810
JBrowse link
cone-rod dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy
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, Recessive
ClinVar Annotator: match by term: Cone rod dystrophy
ClinVar PMID:8002831, PMID:9054934, PMID:9295268, PMID:9466990, PMID:9666097, PMID:9781034, PMID:9973280, PMID:10090887, PMID:10413692, PMID:10612508, PMID:10634594, PMID:10711710, PMID:10880298, PMID:10958761, PMID:10958763, PMID:11017087, PMID:11328725, PMID:11346402, PMID:11527935, PMID:11702214, PMID:11726554, PMID:11857735, PMID:11919200, PMID:11973624, PMID:12037008, PMID:12192456, PMID:12515255, PMID:12796258, PMID:14517951, PMID:14709597, PMID:14971589, PMID:15108289, PMID:15192030, PMID:15494742, PMID:15516930, PMID:16103129, PMID:16123440, PMID:16303926, PMID:16400609, PMID:16546111, PMID:17724221, PMID:17982420, PMID:18024811, PMID:18285826, PMID:18854780, PMID:18977788, PMID:19028736, PMID:19074458, PMID:19217903, PMID:19230850, PMID:19365591, PMID:20029649, PMID:20335603, PMID:20696155, PMID:20981092, PMID:21786275, PMID:21911583, PMID:22025579, PMID:22229821, PMID:22264887, PMID:22312191, PMID:22427542, PMID:22449572, PMID:22661472, PMID:22661473, PMID:22735453, PMID:22968130, PMID:22995991, PMID:23096905, PMID:23134348, PMID:23143460, PMID:23144455, PMID:23419329, PMID:23695285, PMID:23755871, PMID:23769331, PMID:23940504, PMID:23949494, PMID:23953153, PMID:23982839, PMID:24011517, PMID:24033266, PMID:24082139, PMID:24097981, PMID:24154662, PMID:24265693, PMID:24453473, PMID:24713488, PMID:25066811, PMID:25082885, PMID:25087612, PMID:25097241, PMID:25283059, PMID:25333069, PMID:25346251, PMID:25356976, PMID:25412400, PMID:25444351, PMID:25472526, PMID:25474345, PMID:25525159, PMID:25640233, PMID:25712131, PMID:25741868, PMID:25910913, PMID:25921964, PMID:26103963, PMID:26247787, PMID:26527198, PMID:26593885, PMID:26872967, PMID:27014590, PMID:27491360, PMID:27535533, PMID:27628848, PMID:27739528, PMID:27820952, PMID:28041643, PMID:28118664, PMID:28181551, PMID:28224992, PMID:28327576, PMID:28341476, PMID:28446513, PMID:28492532, PMID:28559085, PMID:29145636, PMID:29162642, PMID:29555955, PMID:29847635, PMID:29854428, PMID:29925512, PMID:29971439, PMID:29975949, PMID:30054919, PMID:30060493, PMID:30093795, PMID:30311386, PMID:30718709, PMID:31015497, PMID:31576780, PMID:92952680 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Abhd12 abhydrolase domain containing 12, lysophospholipase ISO ClinVar Annotator: match by term: Cone rod dystrophy ClinVar PMID:24697911 NCBI chr 3:146,630,298...146,690,375
Ensembl chr 3:146,630,299...146,690,375
JBrowse link
G Acbd5 acyl-CoA binding domain containing 5 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:28492532 NCBI chr17:89,882,465...89,923,982
Ensembl chr17:89,883,615...89,923,423
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 chr16:71,810,377...71,887,926
Ensembl chr16:71,810,377...71,887,926
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 chr 3:55,886,695...55,907,717
Ensembl chr 3:55,886,695...55,907,716
JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 NCBI chr 1:226,033,146...226,049,893
Ensembl chr 1:226,030,875...226,049,929
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 chr 1:219,383,452...219,388,009
Ensembl chr 1:219,383,452...219,388,009
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 chr  X:15,712,709...15,741,135
Ensembl chr  X:15,712,713...15,741,103
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 chr 4:151,298,548...151,409,263
Ensembl chr 4:151,298,548...151,409,263
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 chr16:14,328,161...14,348,049
Ensembl chr16:14,328,160...14,348,046
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 chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
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 chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr 1:233,185,815...233,214,876
Ensembl chr 1:233,186,989...233,214,758
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 chr 3:66,268,835...66,395,615
Ensembl chr 3:66,268,947...66,394,764
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 chr20:11,417,428...11,424,301
Ensembl chr20:11,417,429...11,424,324
JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr 1:197,986,384...197,999,726
Ensembl chr 1:197,986,385...197,997,664
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 chr14:38,155,771...38,171,107
Ensembl chr14:38,155,759...38,171,010
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:26493561, PMID:28041643, PMID:28492532, PMID:30289319 NCBI chr 9:43,807,412...43,858,225
Ensembl chr 9:43,807,677...43,854,396
JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Cone-rod retinal 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, PMID:32860008 NCBI chr 5:33,097,353...33,507,467
Ensembl chr 5:33,097,654...33,507,467
JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO DNA:missense mutation:cds:p.C27F(c.80G¿¿¿>¿¿¿T)(human)
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar PMID:25741868, PMID:30311386, PMID:23767994 RGD:13451130 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
ClinVar PMID:30718709 NCBI chr 1:77,744,593...77,758,913
Ensembl chr 1:77,745,288...77,750,960
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 chr14:107,785,029...107,803,765
Ensembl chr14:107,785,029...107,798,115
JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:25741868 NCBI chr 2:210,880,754...210,890,765
Ensembl chr 2:210,880,777...210,889,881
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 PMID:15505030, PMID:25741868, PMID:28492532 NCBI chr 9:15,609,804...15,620,030
Ensembl chr 9:15,609,804...15,620,029
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 chr 9:15,621,083...15,629,017
Ensembl chr 9:15,621,083...15,629,017
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal 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: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 chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr16:70,876,557...70,909,443 JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868, PMID:30311386 NCBI chr 4:56,478,383...56,493,987
Ensembl chr 4:56,478,384...56,493,923
JBrowse link
G Itga4 integrin subunit alpha 4 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:25741868 NCBI chr 3:66,178,745...66,265,547
Ensembl chr 3:66,193,059...66,263,960
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 chr 1:245,396,880...245,475,011
Ensembl chr 1:245,396,989...245,416,531
JBrowse link
G Lrat lecithin retinol acyltransferase ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 NCBI chr 2:181,896,304...181,905,366
Ensembl chr 2:181,896,305...181,905,300
JBrowse link
G Mall mal, T-cell differentiation protein-like ISO ClinVar Annotator: match by term: Cone rod dystrophy ClinVar PMID:28041643 NCBI chr 3:120,272,583...120,307,090
Ensembl chr 3:120,272,583...120,306,551
JBrowse link
G MGC94199 similar to RIKEN cDNA 2610301B20; EST AI428449 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar PMID:30311386 NCBI chr 5:24,145,829...24,165,467
NCBI chr 5:23,358,464...23,377,697
Ensembl chr 5:23,358,841...23,377,651
Ensembl chr 5:23,358,841...23,377,651
JBrowse link
G Mir103a2 microRNA 103a-2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar NCBI chr 3:123,833,671...123,833,756
Ensembl chr 3:123,833,671...123,833,756
JBrowse link
G Mtln mitoregulin ISO ClinVar Annotator: match by term: Cone rod dystrophy ClinVar PMID:28041643 NCBI chr 3:120,372,665...120,373,523 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 chr 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
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 chr 7:130,326,597...130,343,655
Ensembl chr 7:130,326,600...130,342,493
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 chr 5:166,409,460...166,430,291
Ensembl chr 5:166,409,461...166,430,254
JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Cone rod dystrophy ClinVar PMID:28041643 NCBI chr 3:120,316,048...120,370,089
Ensembl chr 3:120,316,047...120,373,500
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 chr 8:64,797,518...64,801,587
Ensembl chr 8:64,797,518...64,800,467
JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar NCBI chr 3:123,807,911...123,841,797
Ensembl chr 3:123,807,952...123,841,797
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 chr 6:23,337,507...23,346,232
Ensembl chr 6:23,337,571...23,346,173
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 chr14:2,328,690...2,371,913
Ensembl chr14:2,328,750...2,371,883
JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar NCBI chr 1:256,822,099...256,885,879
Ensembl chr 1:256,822,334...256,877,810
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 chr 1:15,311,768...15,374,702
Ensembl chr 1:15,311,770...15,374,850
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 chr10:58,618,679...58,722,679
Ensembl chr10:58,618,645...58,693,754
JBrowse link
G Poc1b POC1 centriolar protein B ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr 7:41,304,119...41,404,360
Ensembl chr 7:41,304,440...41,404,370
JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar PMID:10205271, PMID:17605048, PMID:19718270, PMID:23757202, PMID:24154662, PMID:24474277, PMID:25741868, PMID:25999674, PMID:26103963, PMID:26261540, PMID:26702251, PMID:27874104, PMID:28041643, PMID:28492532 NCBI chr14:71,532,321...71,637,400
Ensembl chr14:71,533,063...71,637,417
JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868, PMID:30311386 NCBI chr10:63,635,239...63,658,360
Ensembl chr10:63,635,219...63,658,361
JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone Rod 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 chr 9:16,085,933...16,386,176 JBrowse link
G Rab28 RAB28, member RAS oncogene family ISO ClinVar Annotator: match by term: Cone-rod degeneration ClinVar PMID:23746546 NCBI chr14:73,888,968...73,963,209
Ensembl chr14:73,889,213...73,963,202
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 chr 6:102,392,828...102,405,750
Ensembl chr 6:102,392,828...102,405,750
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868, PMID:28492532, PMID:30193310 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
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 chr16:14,286,323...14,300,972
Ensembl chr16:14,286,323...14,300,951
JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Rod-cone dystrophy
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-rod retinal 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 chr 4:147,832,136...147,837,298
Ensembl chr 4:147,832,136...147,837,298
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 chr 9:28,440,408...28,973,246
Ensembl chr 9:28,442,229...28,973,246
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 chr 2:266,141,581...266,169,197
Ensembl chr 2:266,141,581...266,169,197
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar PMID:11857109, PMID:11875055, PMID:30311386, PMID:30718709 NCBI chr  X:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
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 retinal dystrophy
ClinVar PMID:25741868 NCBI chr15:28,521,287...28,575,046
Ensembl chr15:28,522,737...28,574,737
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 chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
JBrowse link
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:25741868 NCBI chr 9:94,926,901...94,972,162
Ensembl chr 9:94,928,489...94,972,027
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 chr 8:60,127,039...60,593,568
Ensembl chr 8:60,126,624...60,570,058
JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar NCBI chr 2:187,799,568...187,823,014
Ensembl chr 2:187,799,568...187,822,997
JBrowse link
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:23847139, PMID:25741868, PMID:27735924, PMID:28492532, PMID:28559085, PMID:30311386 NCBI chr 3:119,640,324...119,669,651
Ensembl chr 3:119,640,298...119,669,639
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 chr 5:56,554,956...56,566,503
Ensembl chr 5:56,554,969...56,567,320
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 chr 1:234,478,908...234,631,264
Ensembl chr 1:234,479,289...234,596,971
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 chr 6:122,920,308...122,974,525
Ensembl chr 6:122,920,317...122,974,522
JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr 6:109,693,915...109,910,479
Ensembl chr 6:109,710,781...109,879,607
JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:30311386 NCBI chr20:7,931,673...7,943,601
Ensembl chr20:7,931,674...7,943,575
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 chr10:65,606,919...65,612,324
Ensembl chr10:65,606,898...65,612,324
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar Annotator: match by term: Rod-cone 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 chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
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 ClinVar Annotator: match by term: Cone-rod dystrophy 10
ClinVar Annotator: match by OMIM:610283
OMIM
ClinVar
PMID:16199541, PMID:24033266, PMID:25307848, PMID:25741868, PMID:26103963, PMID:28492532 NCBI chr 2:187,799,568...187,823,014
Ensembl chr 2:187,799,568...187,822,997
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 ClinVar Annotator: match by term: Cone-rod dystrophy 12
ClinVar Annotator: match by OMIM:612657
OMIM
ClinVar
PMID:10205271, PMID:12657606, PMID:18654668, PMID:19718270, PMID:20393116, PMID:20859302, PMID:22183351, PMID:22581970, PMID:24154662, PMID:24265693, PMID:24474277, PMID:25356976, PMID:25741868, PMID:25910913, PMID:25999674, PMID:26103963, PMID:26161267, PMID:26261540, PMID:26355662, PMID:26393467, PMID:26702251, PMID:27874104, PMID:28041643, PMID:28492532, PMID:28559085, PMID:29847639, PMID:30718709 NCBI chr14:71,532,321...71,637,400
Ensembl chr14:71,533,063...71,637,417
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 ClinVar Annotator: match by term: Cone-rod dystrophy 13
ClinVar Annotator: match by OMIM:608194
OMIM
ClinVar
PMID:11283794, PMID:11528500, PMID:12920076, PMID:14971589, PMID:15800011, PMID:16123401, PMID:16339905, PMID:16374347, PMID:17964524, PMID:18055816, PMID:20079931, PMID:21153841, PMID:21224891, PMID:21857984, PMID:22025579, PMID:22277662, PMID:23105016, PMID:23847139, PMID:24123792, PMID:24265693, PMID:24997176, PMID:25326637, PMID:25445212, PMID:25741868, PMID:26047050, PMID:26667666, PMID:26872967, PMID:26893459, PMID:27884173, PMID:28041643, PMID:28492532, PMID:28559085, PMID:28714225, PMID:29178642, PMID:30202406, PMID:30576320, PMID:32860008 NCBI chr15:28,521,287...28,575,046
Ensembl chr15:28,522,737...28,574,737
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 chr 4:151,298,548...151,409,263
Ensembl chr 4:151,298,548...151,409,263
JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Cone dystrophy 3
ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 14
OMIM
ClinVar
PMID:9425234, PMID:9651312, PMID:9702199, PMID:11146732, PMID:11484154, PMID:15505030, PMID:15735604, PMID:15790869, PMID:15953638, PMID:18706439, PMID:19459154, PMID:24024198, PMID:24352742, PMID:25741868, PMID:26358777, PMID:26766544, PMID:28025326, PMID:28041643, PMID:28442884, PMID:28492532, PMID:30184081, PMID:30622141, PMID:30718709, PMID:31728034, PMID:31979372, PMID:32025184 NCBI chr 9:15,609,804...15,620,030
Ensembl chr 9:15,609,804...15,620,029
JBrowse link
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 14 ClinVar PMID:15505030, PMID:25741868, PMID:28492532 NCBI chr 9:15,621,083...15,629,017
Ensembl chr 9:15,621,083...15,629,017
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 chr 1:245,396,880...245,475,011
Ensembl chr 1:245,396,989...245,416,531
JBrowse link
G LOC100912849 uncharacterized LOC100912849 ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar NCBI chr 9:15,580,166...15,604,282
Ensembl chr 9:15,582,564...15,604,100
JBrowse link
G Pde6h phosphodiesterase 6H ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar NCBI chr 4:170,947,723...170,963,046
Ensembl chr 4:170,958,196...170,963,046
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 ClinVar Annotator: match by term: Cone-rod dystrophy 15
ClinVar Annotator: match by term: Retinitis pigmentosa 65
ClinVar Annotator: match by synonym: Retinitis pigmentosa 65
OMIM
ClinVar
PMID:20087419, PMID:20805371, PMID:23591405, PMID:24033266, PMID:24154662, PMID:25741868, PMID:27353947, PMID:27623334, PMID:28041643, PMID:28224992, PMID:28418496, PMID:28492532, PMID:28765526, PMID:28885867, PMID:30311386, PMID:30576320, PMID:30718709, PMID:30992995 NCBI chr16:14,328,161...14,348,049
Ensembl chr16:14,328,160...14,348,046
JBrowse link
cone-rod dystrophy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MGC94199 similar to RIKEN cDNA 2610301B20; EST AI428449 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 16
ClinVar Annotator: match by term: Retinitis pigmentosa 64
ClinVar Annotator: match by OMIM:614500
OMIM
ClinVar
PMID:22177090, PMID:25802487, PMID:26355662, PMID:26854863, PMID:26865426, PMID:27008867, PMID:28492532 NCBI chr 5:24,145,829...24,165,467
NCBI chr 5:23,358,464...23,377,697
Ensembl chr 5:23,358,841...23,377,651
Ensembl chr 5:23,358,841...23,377,651
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 ClinVar Annotator: match by term: Cone-rod dystrophy 18
ClinVar Annotator: match by OMIM:615374
OMIM
ClinVar
PMID:23746546, PMID:23806086, PMID:24088041, PMID:25356532, PMID:25741868 NCBI chr14:73,888,968...73,963,209
Ensembl chr14:73,889,213...73,963,202
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 ClinVar Annotator: match by term: Cone-rod dystrophy 19 OMIM
ClinVar
PMID:24791901 NCBI chr 6:109,693,915...109,910,479
Ensembl chr 6:109,710,781...109,879,607
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 chr10:58,599,690...58,631,194
Ensembl chr10:58,599,856...58,608,907
JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:120970
OMIM
ClinVar
PMID:9390563, PMID:9427255, PMID:9792858, PMID:10766140, PMID:11139241, PMID:11748859, PMID:11971869, PMID:15531334, PMID:16123401, PMID:17964524, PMID:18682808, PMID:22960069, PMID:23049240, PMID:24265693, PMID:25741868, PMID:26355662, PMID:28492532, PMID:29068479, PMID:30543658, PMID:30718709, PMID:31215831 NCBI chr 1:77,744,593...77,758,913
Ensembl chr 1:77,745,288...77,750,960
JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2
ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2
ClinVar PMID:10205271, PMID:19718270, PMID:24154662, PMID:25741868, PMID:25999674, PMID:26103963, PMID:26153215, PMID:26261540, PMID:27874104, PMID:28041643, PMID:28492532 NCBI chr14:71,532,321...71,637,400
Ensembl chr14:71,533,063...71,637,417
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 ClinVar Annotator: match by term: Cone-rod dystrophy 20 OMIM
ClinVar
PMID:24945461, PMID:25018096, PMID:25044745, PMID:25741868, PMID:28492532 NCBI chr 7:41,304,119...41,404,360
Ensembl chr 7:41,304,440...41,404,370
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 ClinVar Annotator: match by term: Cone-rod dystrophy 21 OMIM
ClinVar
PMID:25983245, PMID:28492532 NCBI chr 2:209,160,901...209,189,641
Ensembl chr 2:209,161,047...209,188,622
JBrowse link
cone-rod dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 3
ClinVar Annotator: match by OMIM:604116
OMIM
ClinVar
PMID:8002831, PMID:9054934, PMID:9295268, PMID:9466990, PMID:9490294, PMID:9503029, PMID:9666097, PMID:9781034, PMID:9973280, PMID:10090887, PMID:10206579, PMID:10396622, PMID:10413692, PMID:10458172, PMID:10612508, PMID:10634594, PMID:10711710, PMID:10880298, PMID:10958763, PMID:11017087, PMID:11123914, PMID:11328725, PMID:11379881, PMID:11385708, PMID:11527935, PMID:11702214, PMID:11726554, PMID:11919200, PMID:11973624, PMID:12037008, PMID:12192456, PMID:12515255, PMID:12592048, PMID:12796258, PMID:14709597, PMID:15161829, PMID:15192030, PMID:15494742, PMID:15516930, PMID:15579991, PMID:15614537, PMID:16103129, PMID:16123440, PMID:16303926, PMID:16400609, PMID:16546111, PMID:16682602, PMID:17277736, PMID:17296903, PMID:17325136, PMID:17982420, PMID:18285826, PMID:18414213, PMID:18854780, PMID:18977788, PMID:19074458, PMID:19217903, PMID:19230850, PMID:20554613, PMID:20647261, PMID:20696155, PMID:20981092, PMID:21786275, PMID:21911583, PMID:22025579, PMID:22229821, PMID:22264887, PMID:22312191, PMID:22328824, PMID:22427542, PMID:22449572, PMID:22661472, PMID:22661473, PMID:22968130, PMID:23143460, PMID:23144455, PMID:23419329, PMID:23443024, PMID:23591405, PMID:23695285, PMID:23755871, PMID:23769331, PMID:23776498, PMID:23953153, PMID:23982839, PMID:24011517, PMID:24033266, PMID:24082139, PMID:24154662, PMID:24265693, PMID:24444108, PMID:24453473, PMID:24509150, PMID:24632595, PMID:24713488, PMID:24763286, PMID:25066811, PMID:25082885, PMID:25087612, PMID:25097241, PMID:25283059, PMID:25312043, PMID:25333069, PMID:25412400, PMID:25472526, PMID:25525159, PMID:25544989, PMID:25640233, PMID:25698705, PMID:25712131, PMID:25741868, PMID:25910913, PMID:25921964, PMID:26161775, PMID:26247787, PMID:26261413, PMID:26355662, PMID:26527198, PMID:26593885, PMID:26872967, PMID:26976702, PMID:27032803, PMID:27491360, PMID:27535533, PMID:27583828, PMID:27775217, PMID:27939946, PMID:28041643, PMID:28118664, PMID:28181551, PMID:28327576, PMID:28446513, PMID:28492532, PMID:28559085, PMID:28947085, PMID:29114839, PMID:29162642, PMID:29310964, PMID:29343940, PMID:29461686, PMID:29555955, PMID:29847635, PMID:29854428, PMID:29925512, PMID:29971439, PMID:29975949, PMID:30060493, PMID:30093795, PMID:30311386, PMID:30576320, PMID:30718709, PMID:31576780, PMID:92952680 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
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 chr10:58,613,588...58,618,524
Ensembl chr10:58,613,674...58,618,514
JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 5 OMIM
ClinVar
PMID:8586428, PMID:17377520, PMID:22405330, PMID:25741868, PMID:28492532, PMID:30718709 NCBI chr10:58,618,679...58,722,679
Ensembl chr10:58,618,645...58,693,754
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 chr 1:226,033,146...226,049,893
Ensembl chr 1:226,030,875...226,049,929
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Retinal cone dystrophy 2
ClinVar Annotator: match by term: Cone-rod dystrophy 6
ClinVar Annotator: match by OMIM:601777
OMIM
ClinVar
PMID:8554074, PMID:8944027, PMID:9618177, PMID:9683616, PMID:10636733, PMID:10676808, PMID:10766140, PMID:10951519, PMID:11115851, PMID:11328726, PMID:11565546, PMID:12552567, PMID:15024725, PMID:15111605, PMID:15175914, PMID:16123401, PMID:16505055, PMID:17724218, PMID:17964524, PMID:18055816, PMID:18055820, PMID:20050595, PMID:20079931, PMID:20517349, PMID:20683928, PMID:21602930, PMID:22695961, PMID:23035049, PMID:24033266, PMID:24875811, PMID:24997176, PMID:25477517, PMID:25741868, PMID:26047050, PMID:26253563, PMID:26298565, PMID:26355662, PMID:26626312, PMID:27375279, PMID:28041643, PMID:28341476, PMID:28492532, PMID:28838317, PMID:29061346, PMID:29068479, PMID:29178642, PMID:29559409, PMID:30311386, PMID:30718709 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
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 ClinVar Annotator: match by term: Cone-rod dystrophy 7
ClinVar Annotator: match by OMIM:603649
OMIM
ClinVar
PMID:9634506, PMID:12659814, PMID:23591405, PMID:25741868, PMID:28492532 NCBI chr 9:28,440,408...28,973,246
Ensembl chr 9:28,442,229...28,973,246
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 ClinVar Annotator: match by term: Cone-rod dystrophy 9
ClinVar Annotator: match by OMIM:612775
OMIM
ClinVar
PMID:11581183, PMID:19409519, PMID:25091951, PMID:25741868, PMID:28492532 NCBI chr16:71,810,377...71,887,926
Ensembl chr16:71,810,377...71,887,926
JBrowse link
G Tm2d2 TM2 domain containing 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 9 ClinVar NCBI chr16:71,804,368...71,809,891
Ensembl chr16:71,804,350...71,809,925
JBrowse link
Cone-Rod Dystrophy and Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: CONE-ROD DYSTROPHY AND HEARING LOSS
ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 1
ClinVar
OMIM
PMID:27588451, PMID:27588452, PMID:27627988, PMID:28492532 NCBI chr 1:233,185,815...233,214,876
Ensembl chr 1:233,186,989...233,214,758
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 ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 2 OMIM
ClinVar
PMID:24780881, PMID:25741868, PMID:29718797, PMID:30459346, PMID:30998843 NCBI chr 3:151,508,366...151,544,631
Ensembl chr 3:151,508,361...151,544,674
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 ClinVar Annotator: match by term: CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE ClinVar
OMIM
PMID:32470375 NCBI chr 7:78,091,998...78,594,164
Ensembl chr 7:78,092,037...78,594,138
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 ClinVar Annotator: match by OMIM:601553
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:11544476, PMID:12445216 NCBI chr19:38,668,957...38,719,801
Ensembl chr19:38,669,230...38,719,677
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 chr 7:74,118,834...74,722,341 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 chr 4:56,478,383...56,493,987
Ensembl chr 4:56,478,384...56,493,923
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:30311386 NCBI chr 3:3,843,307...3,856,154
Ensembl chr 3:3,843,307...3,855,981
JBrowse link
G Prpf31 pre-mRNA processing factor 31 ISO ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:30311386 NCBI chr 1:64,150,786...64,162,461
Ensembl chr 1:64,150,786...64,162,461
JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Cystoid macular edema ClinVar PMID:1862076, PMID:30311386 NCBI chr 4:147,832,136...147,837,298
Ensembl chr 4:147,832,136...147,837,298
JBrowse link
degenerative myopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp2 LDL receptor related protein 2 ISS MouseDO NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms:cds:multiple (human) RGD PMID:11864433, PMID:10887689 RGD:7421542, RGD:7483572 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
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 DNA:missense mutation:cds:p.R345W (human)
ClinVar Annotator: match by term: Malattia leventinese
ClinVar Annotator: match by term: Doyne honeycomb retinal dystrophy
ClinVar Annotator: match by OMIM:126600
protein:altered expression: :
ClinVar
OMIM
PMID:10369267, PMID:11384588, PMID:11389162, PMID:12242346, PMID:17666404, PMID:22031286, PMID:25077532, PMID:25741868, PMID:28492532, PMID:30541486, PMID:10369267, PMID:12242346, PMID:17664227 RGD:1598888, RGD:10401794, RGD:10401791 NCBI chr14:113,202,382...113,294,993
Ensembl chr14:113,202,419...113,295,014
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 chr 9:16,085,933...16,386,176 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 ClinVar Annotator: match by term: EEM syndrome
ClinVar Annotator: match by OMIM:225280
OMIM
ClinVar
PMID:10420194, PMID:13372143, PMID:14708629, PMID:15805154, PMID:25741868, PMID:28041643, PMID:28492532 NCBI chr19:38,668,957...38,719,801
Ensembl chr19:38,669,230...38,719,677
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 ClinVar Annotator: match by term: NR2E3-Related Disorders
ClinVar Annotator: match by term: Enhanced s-cone syndrome
ClinVar Annotator: match by OMIM:268100
OMIM
ClinVar
PMID:10655056, PMID:11071390, PMID:11773633, PMID:12963616, PMID:15453866, PMID:15459973, PMID:15689355, PMID:16024868, PMID:17438525, PMID:17564971, PMID:17601449, PMID:18294254, PMID:18436841, PMID:18835469, PMID:19006237, PMID:19139342, PMID:19273793, PMID:19718767, PMID:19823680, PMID:19898638, PMID:19933183, PMID:21217109, PMID:21364904, PMID:23039133, PMID:23591405, PMID:23989059, PMID:24033266, PMID:24069298, PMID:24265693, PMID:24339724, PMID:24474277, PMID:25079116, PMID:25097241, PMID:25703721, PMID:25741868, PMID:25999674, PMID:26229699, PMID:26355662, PMID:26667666, PMID:26894784, PMID:27013732, PMID:27032803, PMID:27874104, PMID:28041643, PMID:28300834, PMID:28418496, PMID:28492532, PMID:28559085, PMID:28944237, PMID:30054919, PMID:30311386, PMID:30324420, PMID:30718709 NCBI chr 8:64,797,518...64,801,587
Ensembl chr 8:64,797,518...64,800,467
JBrowse link
G Nrl neural retina leucine zipper ISO
ISS
ClinVar Annotator: match by term: Enhanced s-cone syndrome
OMIM:268100
ClinVar
MouseDO
PMID:27732723 NCBI chr15:34,197,115...34,201,408
Ensembl chr15:34,197,193...34,198,921
JBrowse link
G Prph2 peripherin 2 ISO RGD PMID:23650562 RGD:8554862 NCBI chr 9:16,085,933...16,386,176 JBrowse link
fundus albipunctatus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfrp membrane frizzled-related protein ISS OMIM:136880 MouseDO NCBI chr 8:48,437,720...48,443,421
Ensembl chr 8:48,437,918...48,443,421
JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Pigmentary retinal dystrophy
ClinVar Annotator: match by term: Fundus albipunctatus
ClinVar Annotator: match by term: Retinitis punctata albescens, autosomal dominant
DNA:deletion:cds:
OMIM
ClinVar
PMID:8485575, PMID:8675410, PMID:8994365, PMID:9331261, PMID:14510799, PMID:18310263, PMID:24629188, PMID:25474345, PMID:25741868, PMID:26161267, PMID:28492532, PMID:30718709, PMID:8485575 RGD:8553223 NCBI chr 9:16,085,933...16,386,176 JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO ClinVar Annotator: match by term: Pigmentary retinal dystrophy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fundus albipunctatus
ClinVar Annotator: match by term: Fundus albipunctatus, autosomal recessive
ClinVar Annotator: match by OMIM:136880
OMIM
ClinVar
CTD
PMID:302784, PMID:2336278, PMID:10369264, PMID:10617778, PMID:11053295, PMID:11053296, PMID:11078852, PMID:11153648, PMID:11470705, PMID:11675386, PMID:11812441, PMID:12860821, PMID:15007239, PMID:15302662, PMID:15790919, PMID:17476461, PMID:18048336, PMID:18949499, PMID:20829743, PMID:21529959, PMID:22669287, PMID:22815624, PMID:24033266, PMID:25170858, PMID:25526675, PMID:25587058, PMID:25741868, PMID:27627638, PMID:28393863, PMID:28492532 NCBI chr 7:3,335,681...3,342,573
Ensembl chr 7:3,335,742...3,342,491
JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Retinitis punctata albescens
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1484692, PMID:1862076, PMID:1882937, PMID:8554077, PMID:8841304, PMID:9197578, PMID:18175313, PMID:25101269, PMID:28492532, PMID:28559085, PMID:30718709 NCBI chr 4:147,832,136...147,837,298
Ensembl chr 4:147,832,136...147,837,298
JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Retinitis punctata albescens
ClinVar Annotator: match by term: Pigmentary retinal dystrophy
ClinVar Annotator: match by term: Fundus albipunctatus
ClinVar Annotator: match by synonym: Retinitis punctata albescens
OMIM
ClinVar
PMID:9326942, PMID:10102298, PMID:10102299, PMID:11449319, PMID:11453974, PMID:11868161, PMID:12536144, PMID:15953459, PMID:18344446, PMID:19846785, PMID:20238024, PMID:22183382, PMID:22551409, PMID:23105016, PMID:25326637, PMID:25429852, PMID:25741868, PMID:26355662, PMID:28041643, PMID:28492532 NCBI chr 1:141,097,789...141,111,375
Ensembl chr 1:141,097,695...141,111,400
JBrowse link
fundus dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Retinal dystrophy
ClinVar PMID:2508288, PMID:8002831, PMID:9054934, PMID:9295268, PMID:9466990, PMID:9490294, PMID:9503029, PMID:9666097, PMID:9781034, PMID:9973280, PMID:10090887, PMID:10206579, PMID:10396622, PMID:10413692, PMID:10458172, PMID:10509673, PMID:10612508, PMID:10634594, PMID:10634626, PMID:10711710, PMID:10746567, PMID:10880298, PMID:10958761, PMID:10958763, PMID:11017087, PMID:11123914, PMID:11328725, PMID:11379881, PMID:11385708, PMID:11527935, PMID:11594993, PMID:11687513, PMID:11702214, PMID:11726554, PMID:11818392, PMID:11846518, PMID:11919200, PMID:11973624, PMID:12037008, PMID:12192456, PMID:12515255, PMID:12592048, PMID:12796258, PMID:12962493, PMID:14517951, PMID:14709597, PMID:15108289, PMID:15161829, PMID:15192030, PMID:15494742, PMID:15516930, PMID:15579991, PMID:15614537, PMID:16103129, PMID:16303926, PMID:16400609, PMID:16533065, PMID:16546111, PMID:16682602, PMID:16703556, PMID:16896346, PMID:16917483, PMID:17277736, PMID:17296903, PMID:17325136, PMID:17932850, PMID:17982420, PMID:18024811, PMID:18285826, PMID:18334942, PMID:18414213, PMID:18652558, PMID:18854780, PMID:18977788, PMID:19028736, PMID:19074458, PMID:19217903, PMID:19230850, PMID:19243736, PMID:19265867, PMID:19352439, PMID:19365591, PMID:20029649, PMID:20335603, PMID:20404325, PMID:20554613, PMID:20647261, PMID:20696155, PMID:20852892, PMID:20960624, PMID:20981092, PMID:21293320, PMID:21296825, PMID:21330655, PMID:21786275, PMID:21873672, PMID:21911583, PMID:22025579, PMID:22076985, PMID:22229821, PMID:22247458, PMID:22264887, PMID:22312191, PMID:22328824, PMID:22427542, PMID:22449572, PMID:22589445, PMID:22661472, PMID:22661473, PMID:22735453, PMID:22863181, PMID:22968130, PMID:22995991, PMID:23096905, PMID:23105016, PMID:23143460, PMID:23144455, PMID:23341817, PMID:23419329, PMID:23443024, PMID:23499370, PMID:23591405, PMID:23695285, PMID:23755871, PMID:23769331, PMID:23776498, PMID:23918662, PMID:23940504, PMID:23953153, PMID:23982839, PMID:24011517, PMID:24020726, PMID:24033266, PMID:24082139, PMID:24097981, PMID:24154662, PMID:24265693, PMID:24273789, PMID:24342785, PMID:24409374, PMID:24444108, PMID:24453473, PMID:24509150, PMID:24632595, PMID:24713488, PMID:24743636, PMID:24763286, PMID:24938718, PMID:25066811, PMID:25082829, PMID:25082885, PMID:25087612, PMID:25097241, PMID:25283059, PMID:25301883, PMID:25312043, PMID:25333069, PMID:25346251, PMID:25356976, PMID:25412400, PMID:25444351, PMID:25472526, PMID:25474345, PMID:25525159, PMID:25544989, PMID:25640233, PMID:25681002, PMID:25698705, PMID:25712131, PMID:25741868, PMID:25910913, PMID:25921964, PMID:25922843, PMID:26024099, PMID:26047050, PMID:26092729, PMID:26103963, PMID:26161775, PMID:26229699, PMID:26247787, PMID:26261413, PMID:26355662, PMID:26377081, PMID:26527198, PMID:26551331, PMID:26593885, PMID:26720470, PMID:26780318, PMID:26872967, PMID:26976702, PMID:27030965, PMID:27032803, PMID:27367509, PMID:27491360, PMID:27535533, PMID:27583828, PMID:27699414, PMID:27739528, PMID:27775217, PMID:27820952, PMID:27939946, PMID:28041643, PMID:28118664, PMID:28130426, PMID:28147405, PMID:28181551, PMID:28224992, PMID:28327576, PMID:28341476, PMID:28355279, PMID:28446513, PMID:28492532, PMID:28512305, PMID:28559085, PMID:28947085, PMID:29099798, PMID:29114839, PMID:29145636, PMID:29162642, PMID:29186038, PMID:29310964, PMID:29343940, PMID:29422768, PMID:29461686, PMID:29555955, PMID:29847635, PMID:29847651, PMID:29854428, PMID:29925512, PMID:29975949, PMID:30029497, PMID:30054919, PMID:30060493, PMID:30093795, PMID:30311386, PMID:30337596, PMID:30563929, PMID:30576320, PMID:30718709, PMID:30820146, PMID:30834176, PMID:31015497, PMID:31576780, PMID:92952680, PMID:16546111 RGD:7829713 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Abhd12 abhydrolase domain containing 12, lysophospholipase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:22938382, PMID:28041643 NCBI chr 3:146,630,298...146,690,375
Ensembl chr 3:146,630,299...146,690,375
JBrowse link
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 7:123,102,493...123,145,608
Ensembl chr 7:123,102,468...123,145,635
JBrowse link
G Adgra3 adhesion G protein-coupled receptor A3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr14:64,686,677...64,786,813
Ensembl chr14:64,686,793...64,786,497
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 chr 2:8,926,843...9,504,455
Ensembl chr 2:8,926,850...9,504,134
JBrowse link
G Agbl5 ATP/GTP binding protein-like 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 6:26,837,299...26,857,234
Ensembl chr 6:26,838,036...26,855,658
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 chr 1:16,478,127...16,601,769
Ensembl chr 1:16,478,127...16,601,769
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 chr10:58,599,690...58,631,194
Ensembl chr10:58,599,856...58,608,907
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 chr 4:117,371,544...117,472,310
Ensembl chr 4:117,371,659...117,472,198
JBrowse link
G Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr12:1,889,252...1,998,128
Ensembl chr12:1,889,331...1,998,127
JBrowse link
G Arl2bp ADP-ribosylation factor like GTPase 2 binding protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28041643 NCBI chr19:10,753,670...10,763,247
Ensembl chr19:10,753,681...10,763,110
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 chr 1:220,146,084...220,165,545
Ensembl chr 1:220,147,327...220,165,678
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 chr 7:54,030,229...54,034,354
Ensembl chr 7:54,031,316...54,034,350
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 chr 2:124,048,513...124,057,026
Ensembl chr 2:124,054,282...124,056,795
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 chr19:11,385,921...11,421,523
Ensembl chr19:11,386,024...11,421,498
JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11381270, PMID:27208204, PMID:28492532 NCBI chr 8:64,115,005...64,154,432
Ensembl chr 8:64,121,392...64,154,396
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 chr 3:55,886,695...55,907,717
Ensembl chr 3:55,886,695...55,907,716
JBrowse link
G Bbs7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 2:123,283,402...123,322,991
Ensembl chr 2:123,283,388...123,323,170
JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:20177705, PMID:28492532 NCBI chr 8:23,491,929...24,074,524
Ensembl chr 8:23,492,621...24,074,536
Ensembl chr 8:23,492,621...24,074,536
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 chr 1:226,033,146...226,049,893
Ensembl chr 1:226,030,875...226,049,929
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 chr 8:48,443,515...48,445,639
Ensembl chr 8:48,443,767...48,445,637
JBrowse link
G Ca4 carbonic anhydrase 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:30718709 NCBI chr10:72,272,286...72,281,069
Ensembl chr10:72,272,248...72,281,067
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 chr 1:219,383,452...219,388,009
Ensembl chr 1:219,383,452...219,388,009
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 chr  X:15,712,709...15,741,135
Ensembl chr  X:15,712,713...15,741,103
JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 4:151,298,548...151,409,263
Ensembl chr 4:151,298,548...151,409,263
JBrowse link
G Capn5 calpain 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 1:163,073,134...163,129,736
Ensembl chr 1:163,073,124...163,129,641
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 chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
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 chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr19:38,668,957...38,719,801
Ensembl chr19:38,669,230...38,719,677
JBrowse link
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:20087419, PMID:23044944, PMID:23233793, PMID:23591405, PMID:24033266, PMID:25741868, PMID:26103963, PMID:26261414, PMID:26350383, PMID:26766544, PMID:27353947, PMID:27623334, PMID:28041643, PMID:28224992, PMID:28418496, PMID:28492532, PMID:28765526, PMID:28885867, PMID:30311386, PMID:30718709 NCBI chr16:14,328,161...14,348,049
Ensembl chr16:14,328,160...14,348,046
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:618178, PMID:9326935, PMID:9618178, PMID:9760195, PMID:10220153, PMID:10234514, PMID:10533068, PMID:10589241, PMID:10636421, PMID:10636740, PMID:10922205, PMID:10947001, PMID:12417531, PMID:12920343, PMID:12928282, PMID:15932525, PMID:15937075, PMID:16167295, PMID:16361673, PMID:17296904, PMID:17304551, PMID:17515881, PMID:17615541, PMID:17987333, PMID:18369700, PMID:18541843, PMID:18834580, PMID:19093009, PMID:19390641, PMID:20061330, PMID:20809529, PMID:21701876, PMID:22110067, PMID:22332228, PMID:23288992, PMID:23453514, PMID:23514609, PMID:23568735, PMID:23847049, PMID:24634885, PMID:25525159, PMID:26356828, PMID:26872967, PMID:27032803, PMID:28272453, PMID:28348004, PMID:28492532, PMID:28559085, PMID:29851975, PMID:29902095, PMID:30311386, PMID:30551202, PMID:30652005, PMID:30923717 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 8:50,069,282...50,132,477
Ensembl chr 8:50,070,579...50,126,413
JBrowse link
G Cep250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868, PMID:28005958, PMID:28492532 NCBI chr 3:151,508,366...151,544,631
Ensembl chr 3:151,508,361...151,544,674
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16682970, PMID:16682973, PMID:16909394, PMID:17345604, PMID:17564967, PMID:17705300, PMID:17964524, PMID:18414213, PMID:19466712, PMID:19764032, PMID:20683928, PMID:20690115, PMID:21068128, PMID:21245082, PMID:22355252, PMID:22693042, PMID:22699515, PMID:23188109, PMID:23344081, PMID:23559409, PMID:23591405, PMID:23847139, PMID:23954617, PMID:24265693, PMID:25097241, PMID:25377065, PMID:25445212, PMID:25741868, PMID:25818971, PMID:25920555, PMID:26047050, PMID:26092869, PMID:26673778, PMID:27032803, PMID:27353947, PMID:27491411, PMID:28041643, PMID:28492532, PMID:28497568, PMID:28510626, PMID:28559085, PMID:28660274, PMID:28829391, PMID:28973549, PMID:29178642, PMID:29398085, PMID:30311386, PMID:30718709 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:27588451, PMID:27588452, PMID:27627988, PMID:28492532 NCBI chr 1:233,185,815...233,214,876
Ensembl chr 1:233,186,989...233,214,758
JBrowse link
G Cerkl ceramide kinase-like ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:14681825, PMID:18978954, PMID:20554613, PMID:21151602, PMID:22164218, PMID:23661369, PMID:24043777, PMID:24498393, PMID:24625443, PMID:25097241, PMID:25356976, PMID:25741868, PMID:25999674, PMID:27208204, PMID:28041643, PMID:28130426, PMID:28492532, PMID:28559085, PMID:28838317, PMID:29068140, PMID:30311386, PMID:30718709, PMID:221642182 NCBI chr 3:66,268,835...66,395,615
Ensembl chr 3:66,268,947...66,394,764
JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:26167768, PMID:26974433, PMID:27548899, PMID:27596865, PMID:28041643, PMID:28422394, PMID:28492532, PMID:30311386 NCBI chr20:11,417,428...11,424,301
Ensembl chr20:11,417,429...11,424,324
JBrowse link
G Chm CHM Rab escort protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9067750, PMID:10447648, PMID:11139690, PMID:12203991, PMID:12827496, PMID:16936131, PMID:19427510, PMID:21905166, PMID:26133251, PMID:27247961, PMID:28041643, PMID:28098911, PMID:28492532, PMID:28752371, PMID:30541579 NCBI chr  X:84,666,900...84,821,775
Ensembl chr  X:84,666,900...84,821,775
JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9450775, PMID:18414213, PMID:21990111, PMID:24154662, PMID:25741868, PMID:26766544, PMID:28041643, PMID:28492532, PMID:28559085 NCBI chr 1:197,986,384...197,999,726
Ensembl chr 1:197,986,385...197,997,664
JBrowse link
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12080385, PMID:12145752, PMID:14569126, PMID:15521980, PMID:16028794, PMID:17893653, PMID:18281613, PMID:19423712, PMID:19753315, PMID:21310491, PMID:22787034, PMID:22952768, PMID:23304067, PMID:24033266, PMID:25741868, PMID:26180195, PMID:26338283, PMID:28041643, PMID:28492532 NCBI chr 2:149,049,925...149,088,787
Ensembl chr 2:149,049,925...149,088,787
JBrowse link
G Cnga1 cyclic nucleotide gated channel subunit alpha 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:7479749, PMID:23462753, PMID:24033266, PMID:24154662, PMID:24265693, PMID:25326637, PMID:25611614, PMID:25741868, PMID:26306921, PMID:26496393, PMID:28041643, PMID:28492532, PMID:28981474, PMID:30311386, PMID:30337596, PMID:30718709 NCBI chr14:38,155,771...38,171,107
Ensembl chr14:38,155,759...38,171,010
JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9662398, PMID:11536077, PMID:14757870, PMID:15712225, PMID:15743887, PMID:15980212, PMID:16961972, PMID:17265047, PMID:17693388, PMID:18445228, PMID:18521937, PMID:20238023, PMID:21268679, PMID:21778272, PMID:23972307, PMID:24033266, PMID:24148654, PMID:24504161, PMID:24676353, PMID:24903488, PMID:24906859, PMID:25168900, PMID:25283059, PMID:25616768, PMID:25637600, PMID:25741868, PMID:25943428, PMID:26407004, PMID:26493561, PMID:26992781, PMID:27820752, PMID:28041643, PMID:28159970, PMID:28341476, PMID:28492532, PMID:28559085, PMID:29099798, PMID:30289319, PMID:30311386, PMID:30337596, PMID:30682209 NCBI chr 9:43,807,412...43,858,225
Ensembl chr 9:43,807,677...43,854,396
JBrowse link
G Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15557452, PMID:21147909, PMID:21987686, PMID:23105016, PMID:24043777, PMID:25741868, PMID:25943428, PMID:25999674, PMID:26355662, PMID:26667666, PMID:26894784, PMID:28041643, PMID:28056120, PMID:28492532, PMID:28559085, PMID:29202463, PMID:29912909, PMID:30718709 NCBI chr19:10,142,440...10,206,618
Ensembl chr19:10,142,496...10,206,681
JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1347967, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15459792, PMID:15657609, PMID:15712225, PMID:16319819, PMID:16379026, PMID:17265047, PMID:17652762, PMID:19592100, PMID:20079539, PMID:20574029, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25205868, PMID:25558176, PMID:25741868, PMID:25770143, PMID:27479814, PMID:27874104, PMID:28041643, PMID:28492532, PMID:28795510, PMID:29186038, PMID:29769798, PMID:30311386, PMID:30718709, PMID:32860008 NCBI chr 5:33,097,353...33,507,467
Ensembl chr 5:33,097,654...33,507,467
JBrowse link
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 9:43,049,587...43,088,690
Ensembl chr 9:43,049,587...43,088,702
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:19390655, PMID:21862674, PMID:23667181, PMID:28041643, PMID:28492532, PMID:29977801, PMID:30311386 NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11007540, PMID:20179744, PMID:22496037, PMID:22522174, PMID:26747767, PMID:27390512, PMID:28492532, PMID:29453956, PMID:30181686, PMID:30311386 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1427914, PMID:10508521, PMID:11231775, PMID:11389483, PMID:12700176, PMID:15024725, PMID:15459956, PMID:16543197, PMID:17128490, PMID:17297678, PMID:17724218, PMID:17964524, PMID:18055816, PMID:18055820, PMID:18682808, PMID:19140180, PMID:19401883, PMID:20079931, PMID:20301475, PMID:20591486, PMID:20683928, PMID:20956273, PMID:21757580, PMID:22065545, PMID:22968130, PMID:23105016, PMID:23362850, PMID:23379534, PMID:23449718, PMID:23462753, PMID:23591405, PMID:24033266, PMID:24265693, PMID:24512366, PMID:24715753, PMID:25133751, PMID:25323024, PMID:25474345, PMID:25741868, PMID:26047050, PMID:26147992, PMID:26667666, PMID:26914788, PMID:27096895, PMID:27113771, PMID:27157150, PMID:27208204, PMID:27258436, PMID:27380427, PMID:27628848, PMID:28041643, PMID:28129017, PMID:28181551, PMID:28341475, PMID:28492532, PMID:28512305, PMID:28559085, PMID:28819299, PMID:29068479, PMID:29178642, PMID:29200130, PMID:29391521, PMID:30311386, PMID:30576320, PMID:30718709 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9427255, PMID:9792858, PMID:9931337, PMID:11748859, PMID:11971869, PMID:24265693, PMID:24516401, PMID:25270190, PMID:25326637, PMID:26161267, PMID:28041643, PMID:28492532, PMID:29068479, PMID:30543658, PMID:31215831 NCBI chr 1:77,744,593...77,758,913
Ensembl chr 1:77,745,288...77,750,960
JBrowse link
G Ctnna1 catenin alpha 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28041643, PMID:28492532, PMID:30311386 NCBI chr18:27,923,229...28,055,972
Ensembl chr18:27,923,572...28,055,960
JBrowse link
G Cwc27 CWC27 spliceosome associated cyclophilin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 2:34,716,420...34,923,060
Ensembl chr 2:34,719,344...34,923,024
JBrowse link
G Cygb cytoglobin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:20507925 NCBI chr10:105,618,325...105,628,091
Ensembl chr10:105,618,326...105,628,091
JBrowse link
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15042513, PMID:15937078, PMID:22772592, PMID:24033266, PMID:25356976, PMID:25593508, PMID:25611614, PMID:25741868, PMID:26971461, PMID:28051075, PMID:28492532, PMID:28848678 NCBI chr16:50,111,803...50,136,741
Ensembl chr16:50,111,306...50,136,727
JBrowse link
G Dram2 DNA-damage regulated autophagy modulator 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25983245, PMID:28492532 NCBI chr 2:209,160,901...209,189,641
Ensembl chr 2:209,161,047...209,188,622
JBrowse link
G Dthd1 death domain containing 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr14:48,612,893...48,677,023
Ensembl chr14:48,629,983...48,676,829
JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10369267, PMID:11384588, PMID:11389162, PMID:12242346, PMID:17666404, PMID:22031286, PMID:25077532, PMID:28492532, PMID:30541486 NCBI chr14:113,202,382...113,294,993
Ensembl chr14:113,202,419...113,295,014
JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11138005, PMID:15028284, PMID:23509295, PMID:24833735, PMID:28492532 NCBI chr 8:91,310,690...91,338,625
Ensembl chr 8:91,310,630...91,338,843
JBrowse link
G Fam161a FAM161 centrosomal protein A ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10507729, PMID:20705278, PMID:20705279, PMID:23591405, PMID:24651477, PMID:25097241, PMID:25525159, PMID:25741868, PMID:25999674, PMID:26113502, PMID:26355662, PMID:26574802, PMID:27208204, PMID:28492532, PMID:30718709 NCBI chr14:107,785,029...107,803,765
Ensembl chr14:107,785,029...107,798,115
JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 6:125,644,797...125,723,957
Ensembl chr 6:125,644,804...125,723,944
JBrowse link
G Flvcr1 FLVCR heme transporter 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9409377, PMID:21070897, PMID:21267618, PMID:22279524, PMID:23591405, PMID:24628582, PMID:25741868, PMID:27353947, PMID:27923065, PMID:28492532 NCBI chr13:109,624,167...109,629,609
Ensembl chr13:109,578,074...109,629,482
JBrowse link
G Frmd7 FERM domain containing 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr  X:138,095,707...138,149,702
Ensembl chr  X:138,098,185...138,148,967
JBrowse link
G Fzd4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:14507768, PMID:15035989, PMID:20340138, PMID:20938005, PMID:24033266, PMID:24744206, PMID:25711638, PMID:25741868, PMID:26908610, PMID:27316669 NCBI chr 1:153,589,471...153,598,376
Ensembl chr 1:153,589,471...153,598,375
JBrowse link
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 4:27,647,005...27,658,533
Ensembl chr 4:27,647,335...27,657,167
JBrowse link
G Gigyf2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 9:94,425,191...94,550,431
Ensembl chr 9:94,425,252...94,550,431
JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 8:116,433,302...116,438,038
Ensembl chr 8:116,433,302...116,438,038
JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 2:210,880,754...210,890,765
Ensembl chr 2:210,880,777...210,889,881
JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:22325361, PMID:22325362, PMID:24033266, PMID:28041643 NCBI chr10:85,273,839...85,289,886
Ensembl chr10:85,274,057...85,289,777
JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11874764, PMID:15781871, PMID:19862333, PMID:22735794, PMID:25741868, PMID:28492532, PMID:30718709 NCBI chr10:36,345,503...36,363,416
Ensembl chr10:36,345,939...36,360,665
JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9425234, PMID:9651312, PMID:9702199, PMID:15735604, PMID:15790869, PMID:15953638, PMID:24352742, PMID:25741868, PMID:28041643, PMID:28492532 NCBI chr 9:15,609,804...15,620,030
Ensembl chr 9:15,609,804...15,620,029
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:8554074, PMID:9618177, PMID:10676808, PMID:10766140, PMID:10951519, PMID:11115851, PMID:11565546, PMID:12365911, PMID:12552567, PMID:15175914, PMID:16505055, PMID:17651254, PMID:17724218, PMID:19959640, PMID:20050595, PMID:20517349, PMID:23035049, PMID:24875811, PMID:24997176, PMID:25477517, PMID:25515582, PMID:25741868, PMID:26253563, PMID:26298565, PMID:26626312, PMID:28041643, PMID:28492532, PMID:29061346, PMID:29559409, PMID:30311386, PMID:30718709 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr18:29,611,545...29,629,087
Ensembl chr18:29,611,547...29,629,087
JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:17033958, PMID:17397050, PMID:18024218, PMID:19479962, PMID:19823584, PMID:20583299, PMID:20825431, PMID:23301227, PMID:24767253, PMID:25491247, PMID:25741868, PMID:25859010, PMID:28041643, PMID:28492532, PMID:30311386, PMID:31228227 NCBI chr16:70,876,557...70,909,443 JBrowse link
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25190649, PMID:25316723, PMID:25741868, PMID:26427411, PMID:28492532, PMID:28765615 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:22503633, PMID:23418020, PMID:24009529, PMID:25741868, PMID:26216056, PMID:26766544, PMID:26968735, PMID:28492532, PMID:29688594 NCBI chr10:14,373,668...14,461,509
Ensembl chr10:14,373,679...14,461,160
JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532, PMID:28559085 NCBI chr 6:26,390,686...26,485,459 JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 4:56,478,383...56,493,987
Ensembl chr 4:56,478,384...56,493,923
JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:23993198, PMID:28492532, PMID:30688845 NCBI chr 8:87,733,374...87,879,958
Ensembl chr 8:87,733,545...87,879,888
JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:20673862, PMID:24876279, PMID:25472526, PMID:25741868, PMID:26667666, PMID:28041643, PMID:28492532, PMID:28771251, PMID:30311386, PMID:31264916 NCBI chr11:46,615,091...46,693,565
Ensembl chr11:46,615,200...46,693,565
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:19668216, PMID:23386033, PMID:25818971, PMID:26092869, PMID:28492532, PMID:29230161, PMID:30202406, PMID:30311386 NCBI chr 3:3,843,307...3,856,154
Ensembl chr 3:3,843,307...3,855,981
JBrowse link
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15723066, PMID:18076122, PMID:20881296, PMID:21220633, PMID:21245082, PMID:21866095, PMID:23188109, PMID:23446637, PMID:23559409, PMID:23847139, PMID:24066033, PMID:24625443, PMID:25741868, PMID:25851290, PMID:26673778, PMID:28041643, PMID:28492532, PMID:28832562, PMID:29053603 NCBI chr11:66,824,059...66,878,585
Ensembl chr11:66,824,065...66,878,551
JBrowse link
G Itga4 integrin subunit alpha 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 3:66,178,745...66,265,547
Ensembl chr 3:66,193,059...66,263,960
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
G Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 9:94,486,719...94,495,333
Ensembl chr 9:94,487,224...94,495,333
JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:17896311, PMID:18235024, PMID:18400204, PMID:21882291, PMID:21911584, PMID:23115240, PMID:23885164, PMID:25741868, PMID:28041643, PMID:28492532 NCBI chr 1:245,396,880...245,475,011
Ensembl chr 1:245,396,989...245,416,531
JBrowse link
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532, PMID:30452590 NCBI chr 1:256,035,866...256,088,299
Ensembl chr 1:256,035,866...256,088,299
JBrowse link
G Kiz kizuna centrosomal protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24680887, PMID:28492532, PMID:28837078, PMID:29057815 NCBI chr 3:141,067,981...141,173,738
Ensembl chr 3:141,068,023...141,173,858
JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:19520207, PMID:21828050, PMID:25741868, PMID:28041643, PMID:28492532 NCBI chr 4:7,532,881...7,582,032
Ensembl chr 4:7,532,889...7,582,207
JBrowse link
G Lca5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10631161, PMID:12642313, PMID:17546029, PMID:18000884, PMID:19503738, PMID:21606596, PMID:23946133, PMID:25356970, PMID:25412400, PMID:28041643, PMID:28492532 NCBI chr 8:90,926,309...90,984,271
Ensembl chr 8:90,926,311...90,984,224
JBrowse link
G LOC100361018 rCG22048-like ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24033266, PMID:28492532 NCBI chr20:29,947,427...29,954,869
Ensembl chr20:29,951,637...29,952,023
JBrowse link
G LOC690035 similar to Protein KIAA0586 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24033266, PMID:25741868, PMID:26026149, PMID:26096313, PMID:26386044, PMID:26386247, PMID:26437029, PMID:28125082, PMID:28492532, PMID:29068549, PMID:30120217, PMID:30311386, PMID:32581362 NCBI chr 6:93,562,775...93,667,857
Ensembl chr 6:93,563,446...93,667,675
JBrowse link
G Lrat lecithin retinol acyltransferase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 2:181,896,304...181,905,366
Ensembl chr 2:181,896,305...181,905,300
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28041643 NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11719191, PMID:12054167, PMID:12579474, PMID:15346351, PMID:15824851, PMID:20652025, PMID:22487062, PMID:27208204, PMID:28111184, PMID:28492532, PMID:28677207, PMID:30452590 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link
G Mak male germ cell-associated kinase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868, PMID:28492532 NCBI chr17:21,531,651...21,567,742
Ensembl chr17:21,521,505...21,568,440
JBrowse link
G Mertk MER proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11062461, PMID:11592982, PMID:11727200, PMID:15111602, PMID:17301963, PMID:19956407, PMID:20300561, PMID:24265693, PMID:24625443, PMID:25097241, PMID:26147992, PMID:26263531, PMID:26355662, PMID:26825853, PMID:28041643, PMID:28492532, PMID:28559085, PMID:29068140, PMID:29659094, PMID:30718709 NCBI chr 3:121,235,230...121,340,932
Ensembl chr 3:121,235,119...121,342,444
JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12140190, PMID:12944416, PMID:15976030, PMID:20361016, PMID:22142163, PMID:23289492, PMID:24531000, PMID:25097241, PMID:25326637, PMID:28041643, PMID:28492532, PMID:29847639 NCBI chr 8:48,437,720...48,443,421
Ensembl chr 8:48,437,918...48,443,421
JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25333361, PMID:28041643, PMID:28492532, PMID:28586915 NCBI chr 2:127,706,618...127,784,129
Ensembl chr 2:127,699,761...127,781,003
JBrowse link
G MGC94199 similar to RIKEN cDNA 2610301B20; EST AI428449 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 5:24,145,829...24,165,467
NCBI chr 5:23,358,464...23,377,697
Ensembl chr 5:23,358,841...23,377,651
Ensembl chr 5:23,358,841...23,377,651
JBrowse link
G Mkks McKusick-Kaufman syndrome ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10802661, PMID:10973251, PMID:11567139, PMID:18094050, PMID:20498079, PMID:25741868, PMID:28492532 NCBI chr 3:129,866,542...129,885,213
Ensembl chr 3:129,866,545...129,884,810
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16311595, PMID:19370762, PMID:24210589, PMID:25741868, PMID:28492532 NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15457465 NCBI chr12:47,904,266...47,920,457
Ensembl chr12:47,904,719...47,919,400
JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:7568224, PMID:7870171, PMID:8776602, PMID:8900236, PMID:9002678, PMID:9171833, PMID:9259201, PMID:9354784, PMID:9382091, PMID:10094549, PMID:10425080, PMID:10447383, PMID:10930322, PMID:12112664, PMID:15043528, PMID:15221449, PMID:15660226, PMID:15823922, PMID:16400615, PMID:16470552, PMID:16652077, PMID:16679490, PMID:16963483, PMID:17361009, PMID:18181211, PMID:18463160, PMID:18484607, PMID:18700726, PMID:19074810, PMID:19299023, PMID:19683999, PMID:20132242, PMID:20497194, PMID:20513143, PMID:21150918, PMID:21174530, PMID:21311020, PMID:21436283, PMID:21569298, PMID:21873662, PMID:22135276, PMID:23148716, PMID:23208854, PMID:23451239, PMID:23770805, PMID:24033266, PMID:24199935, PMID:24831256, PMID:25080338, PMID:25404053, PMID:25468891, PMID:25472526, PMID:25575603, PMID:25741868, PMID:25788563, PMID:26338283, PMID:26486028, PMID:26791358, PMID:26872967, PMID:26969326, PMID:27068579, PMID:27160483, PMID:27208204, PMID:27344577, PMID:27460420, PMID:27583663, PMID:27743452, PMID:27957503, PMID:28041643, PMID:28492532, PMID:28559085, PMID:28944237, PMID:30311386, PMID:30390570, PMID:30459346, PMID:31479088 NCBI chr 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:22842227, PMID:22842229, PMID:22842230, PMID:22842231, PMID:23040504, PMID:24033266, PMID:24625443, PMID:24830548, PMID:24940029, PMID:25741868, PMID:26018082, PMID:26103963, PMID:26316326, PMID:27032803, PMID:28041643, PMID:28492532, PMID:32581362 NCBI chr 5:166,409,460...166,430,291
Ensembl chr 5:166,409,461...166,430,254
JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15776426, PMID:21068128, PMID:21546380, PMID:25741868, PMID:28492532 NCBI chr 5:169,647,581...169,744,662
Ensembl chr 5:169,659,188...169,744,660
JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10655056, PMID:11071390, PMID:11773633, PMID:12963616, PMID:15453866, PMID:15459973, PMID:15689355, PMID:16024868, PMID:16225923, PMID:17438525, PMID:17564971, PMID:17982421, PMID:18294254, PMID:18436841, PMID:18835469, PMID:19006237, PMID:19139342, PMID:19273793, PMID:19718767, PMID:19823680, PMID:19898638, PMID:21217109, PMID:21364904, PMID:22711506, PMID:23039133, PMID:23374571, PMID:23591405, PMID:23989059, PMID:24033266, PMID:24069298, PMID:24339724, PMID:24474277, PMID:25079116, PMID:25097241, PMID:25326637, PMID:25356976, PMID:25703721, PMID:25741868, PMID:25999674, PMID:26229699, PMID:26355662, PMID:26894784, PMID:26910043, PMID:27013732, PMID:27032803, PMID:27522502, PMID:27874104, PMID:28041643, PMID:28300834, PMID:28418496, PMID:28492532, PMID:28944237, PMID:30054919, PMID:30311386, PMID:30324420, PMID:30718709 NCBI chr 8:64,797,518...64,801,587
Ensembl chr 8:64,797,518...64,800,467
JBrowse link
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11385710, PMID:17335001, PMID:21981118, PMID:22334370, PMID:28492532, PMID:29385733 NCBI chr15:34,197,115...34,201,408
Ensembl chr15:34,197,193...34,198,921
JBrowse link
G Nyx nyctalopin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11062471, PMID:19578023, PMID:28492532 NCBI chr  X:10,197,547...10,218,583
Ensembl chr  X:10,197,547...10,218,583
JBrowse link
G Oat ornithine aminotransferase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1609808, PMID:1737786, PMID:3339136, PMID:22674428, PMID:28492532 NCBI chr 1:204,562,289...204,582,070
Ensembl chr 1:204,562,289...204,582,070
JBrowse link
G Ofd1 OFD1, centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr  X:29,562,165...29,602,934
Ensembl chr  X:29,562,165...29,602,925
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9490303, PMID:9917792, PMID:11017079, PMID:11440988, PMID:11440989, PMID:11810270, PMID:12036970, PMID:14961560, PMID:15505825, PMID:16513463, PMID:17251483, PMID:18222991, PMID:20157015, PMID:20659957, PMID:20952381, PMID:21636302, PMID:21646330, PMID:22042570, PMID:22857269, PMID:23250881, PMID:23401657, PMID:24907432, PMID:25012220, PMID:25205859, PMID:25564500, PMID:25641387, PMID:25741868, PMID:26467025, PMID:28812649 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:17541950 NCBI chr15:25,500,037...25,511,619
Ensembl chr15:25,502,019...25,505,691
JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28041643, PMID:28492532 NCBI chr 1:264,493,579...264,585,073
Ensembl chr 1:264,504,591...264,583,329
JBrowse link
G Pcare photoreceptor cilium actin regulator ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:20398886, PMID:21412943, PMID:23105016, PMID:27353947, PMID:28041643, PMID:28492532, PMID:28763557, PMID:30311386 NCBI chr 6:23,337,507...23,346,232
Ensembl chr 6:23,337,571...23,346,173
JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:22815625, PMID:23451239, PMID:26791358, PMID:27208204, PMID:27743452, PMID:28492532, PMID:30459346 NCBI chr20:14,952,213...15,334,745
Ensembl chr20:14,952,213...15,334,745
JBrowse link
G Pde6a phosphodiesterase 6A ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:7493036, PMID:10393062, PMID:17110911, PMID:18849587, PMID:21039428, PMID:22128245, PMID:23105016, PMID:23134348, PMID:23847139, PMID:24339724, PMID:24416769, PMID:25775262, PMID:26188004, PMID:26806561, PMID:26868535, PMID:27208204, PMID:27551530, PMID:27917291, PMID:28041643, PMID:28157543, PMID:28492532, PMID:29693493, PMID:30718709 NCBI chr18:56,544,652...56,617,480
Ensembl chr18:56,544,652...56,617,480
JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:7724547, PMID:8394174, PMID:8595886, PMID:9238087, PMID:12525556, PMID:17267005, PMID:22334370, PMID:23105016, PMID:24033266, PMID:24265693, PMID:24938718, PMID:25097241, PMID:25356976, PMID:25823529, PMID:26355662, PMID:26766544, PMID:27353947, PMID:27898983, PMID:28041643, PMID:28224992, PMID:28492532, PMID:28912962, PMID:29641573, PMID:30054919, PMID:30311386, PMID:30646425, PMID:30718709, PMID:30924848 NCBI chr14:2,328,690...2,371,913
Ensembl chr14:2,328,750...2,371,883
JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 1:256,822,099...256,885,879
Ensembl chr 1:256,822,334...256,877,810
JBrowse link
G Pde6g phosphodiesterase 6G ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr10:109,620,499...109,625,214
Ensembl chr10:109,620,980...109,622,745
JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1301993, PMID:2063923, PMID:9398847, PMID:9398848, PMID:10384394, PMID:10447258, PMID:10480353, PMID:11389485, PMID:12032265, PMID:12402331, PMID:15098231, PMID:15542397, PMID:16141001, PMID:17055079, PMID:19105186, PMID:20952722, PMID:21031596, PMID:21846392, PMID:22871920, PMID:23757202, PMID:24503136, PMID:25412400, PMID:25741868, PMID:26219880, PMID:26287655, PMID:26387595, PMID:26643206, PMID:27090541, PMID:27872819, PMID:27882258, PMID:28468868, PMID:28492532, PMID:30311386 NCBI chr 4:27,659,376...27,698,037
Ensembl chr 4:27,659,381...27,698,037
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16530715, PMID:19105186, PMID:19877282, PMID:21031596, PMID:25079577, PMID:25741868, PMID:26387595, PMID:26943801, PMID:27302843, PMID:27848944, PMID:28492532, PMID:31831025 NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
JBrowse link
G Phf3 PHD finger protein 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:18976725, PMID:20333770, PMID:20537394, PMID:21069908, PMID:21519034, PMID:22302105, PMID:22363543, PMID:23757202, PMID:24474277, PMID:24652164, PMID:25324289, PMID:25356976, PMID:25366773, PMID:25741868, PMID:26161267, PMID:26261414, PMID:26872967, PMID:28492532, PMID:29550188, PMID:30718709 NCBI chr 9:37,073,514...37,144,027
Ensembl chr 9:37,073,514...37,144,015
JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9326940, PMID:14974078, PMID:20818383, PMID:28041643, PMID:28492532 NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr10:58,618,679...58,722,679
Ensembl chr10:58,618,645...58,693,754
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
JBrowse link
G Poc1b POC1 centriolar protein B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 7:41,304,119...41,404,360
Ensembl chr 7:41,304,440...41,404,370
JBrowse link
G Prcd photoreceptor disc component ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:20507925 NCBI chr10:105,630,686...105,642,427
Ensembl chr10:105,630,810...105,631,208
JBrowse link
G Prdm13 PR/SET domain 13 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 5:35,821,023...35,831,897
Ensembl chr 5:35,823,983...35,831,712
JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10205271, PMID:12657606, PMID:17605048, PMID:18654668, PMID:19718270, PMID:20393116, PMID:20554613, PMID:20859302, PMID:22025579, PMID:22183351, PMID:22581970, PMID:23105016, PMID:24154662, PMID:24265693, PMID:25356976, PMID:25472526, PMID:25741868, PMID:25999674, PMID:26103963, PMID:26153215, PMID:26261540, PMID:26872967, PMID:27208204, PMID:27874104, PMID:28041643, PMID:28492532, PMID:28559085, PMID:29555955, PMID:29847639, PMID:30718709, PMID:31129250 NCBI chr14:71,532,321...71,637,400
Ensembl chr14:71,533,063...71,637,417
JBrowse link
G Prpf3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11773002, PMID:15085354, PMID:17932117, PMID:20309403, PMID:20811066, PMID:28492532, PMID:28559085, PMID:30311386 NCBI chr 2:197,947,010...197,971,464
Ensembl chr 2:197,947,010...197,971,463
JBrowse link
G Prpf31 pre-mRNA processing factor 31 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:8808602, PMID:11545739, PMID:17325180, PMID:26872967, PMID:28041643, PMID:30718709 NCBI chr 1:64,150,786...64,162,461
Ensembl chr 1:64,150,786...64,162,461
JBrowse link
G Prpf4 pre-mRNA processing factor 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 5:78,267,248...78,281,172
Ensembl chr 5:78,267,248...78,281,172
JBrowse link
G Prpf6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25356976, PMID:28492532 NCBI chr 3:177,098,137...177,162,937
Ensembl chr 3:177,098,073...177,162,916
JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11468273, PMID:17061239, PMID:20232351, PMID:23950152, PMID:24938718, PMID:25741868, PMID:28492532 NCBI chr10:63,635,239...63,658,360
Ensembl chr10:63,635,219...63,658,361
JBrowse link
G Prph2 peripherin 2 no_association ISO DNA:polymorphism:exon:p.E304Q,G338D(human)
ClinVar Annotator: match by term: Retinal dystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1684223, PMID:4142662, PMID:7519821, PMID:7862413, PMID:7880786, PMID:8111389, PMID:8202715, PMID:8485576, PMID:8644804, PMID:8675410, PMID:9052636, PMID:9279751, PMID:9443872, PMID:10862101, PMID:11139241, PMID:11297544, PMID:11934323, PMID:12042139, PMID:12566026, PMID:12925772, PMID:15370544, PMID:16024869, PMID:16113362, PMID:16799052, PMID:16885924, PMID:16916875, PMID:17296903, PMID:17504850, PMID:17653047, PMID:19038374, PMID:19243827, PMID:21071739, PMID:22466463, PMID:22863181, PMID:23591405, PMID:23847139, PMID:24608669, PMID:25001182, PMID:25082885, PMID:25097241, PMID:25324289, PMID:25447119, PMID:25675413, PMID:25741868, PMID:26842753, PMID:28041643, PMID:28076437, PMID:28492532, PMID:28559085, PMID:28723922, PMID:29555955, PMID:30311386, PMID:30718709, PMID:9690896 RGD:8553224 NCBI chr 9:16,085,933...16,386,176 JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28967191, PMID:30311386 NCBI chr  X:111,798,233...111,820,270
Ensembl chr  X:111,798,233...111,820,266
JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:14507768, PMID:15035989, PMID:20340138, PMID:20938005, PMID:24033266, PMID:24744206, PMID:25711638, PMID:25741868, PMID:26908610, PMID:27316669 NCBI chr 1:153,732,528...153,742,111
Ensembl chr 1:153,732,532...153,752,541
JBrowse link
G Rab28 RAB28, member RAS oncogene family ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr14:73,888,968...73,963,209
Ensembl chr14:73,889,213...73,963,202
JBrowse link
G Rbp3 retinol binding protein 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:26872967, PMID:28492532 NCBI chr16:10,277,775...10,286,243
Ensembl chr16:10,277,775...10,286,243
JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Retinal dystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15258582, PMID:15322982, PMID:16269441, PMID:17389517, PMID:17512964, PMID:17964524, PMID:18048336, PMID:18779497, PMID:19140180, PMID:20683928, PMID:22065924, PMID:23661369, PMID:23847139, PMID:23900199, PMID:24265693, PMID:24474277, PMID:25133751, PMID:25741868, PMID:25910913, PMID:26047050, PMID:26103963, PMID:26306921, PMID:26497376, PMID:26667666, PMID:27032803, PMID:27208204, PMID:28041643, PMID:28492532, PMID:28559085, PMID:29186038, PMID:30134391, PMID:30311386, PMID:32014858 NCBI chr 6:102,392,828...102,405,750
Ensembl chr 6:102,392,828...102,405,750
JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 7:3,335,681...3,342,573
Ensembl chr 7:3,335,742...3,342,491
JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 7:12,240,059...12,246,814
Ensembl chr 7:12,240,060...12,246,729
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868, PMID:28492532 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
JBrowse link
G Rgr retinal G protein coupled receptor ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10581022, PMID:28041643 NCBI chr16:14,286,323...14,300,972
Ensembl chr16:14,286,323...14,300,951
JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1301135, PMID:1302614, PMID:1303237, PMID:1418997, PMID:1484692, PMID:1580841, PMID:1765377, PMID:1833777, PMID:1862076, PMID:1882937, PMID:1897520, PMID:1929926, PMID:1985460, PMID:1987955, PMID:1987956, PMID:2137202, PMID:2215617, PMID:2239971, PMID:2333895, PMID:2613244, PMID:8081400, PMID:8088850, PMID:8253795, PMID:8328469, PMID:8554077, PMID:8841304, PMID:8905849, PMID:9197578, PMID:9810568, PMID:11094174, PMID:11139241, PMID:11879142, PMID:12091393, PMID:14769795, PMID:15509574, PMID:17014888, PMID:18175313, PMID:19913029, PMID:20555336, PMID:21094163, PMID:22321012, PMID:22323724, PMID:22334370, PMID:24265693, PMID:24520188, PMID:24853414, PMID:24935155, PMID:25101269, PMID:25221422, PMID:25741868, PMID:26962691, PMID:28041643, PMID:28492532, PMID:28559085, PMID:29068140, PMID:29847639, PMID:30240733, PMID:30311386, PMID:30718709 NCBI chr 4:147,832,136...147,837,298
Ensembl chr 4:147,832,136...147,837,298
JBrowse link
G Ric3 RIC3 acetylcholine receptor chaperone ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 1:173,629,218...173,682,226
Ensembl chr 1:173,630,761...173,682,226
JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9634506, PMID:12659814, PMID:28492532 NCBI chr 9:28,440,408...28,973,246
Ensembl chr 9:28,442,229...28,973,246
JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10102299, PMID:12536144, PMID:18344446, PMID:22551409, PMID:25326637, PMID:25741868, PMID:26355662, PMID:28041643, PMID:28492532 NCBI chr 1:141,097,789...141,111,375
Ensembl chr 1:141,097,695...141,111,400
JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532, PMID:30718709 NCBI chr 1:225,126,732...225,128,740
Ensembl chr 1:225,126,734...225,128,740
JBrowse link
G Rp1 RP1, axonemal microtubule associated ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1783394, PMID:8931712, PMID:10391211, PMID:10391212, PMID:10401003, PMID:11095597, PMID:11527933, PMID:15180241, PMID:16568030, PMID:19933189, PMID:22052604, PMID:22334370, PMID:23950152, PMID:24339724, PMID:25692139, PMID:25698705, PMID:25741868, PMID:26355662, PMID:27391102, PMID:28041643, PMID:28492532, PMID:29425069, PMID:29847639, PMID:30027431, PMID:30718709 NCBI chr 5:15,005,028...15,060,508
Ensembl chr 5:15,043,955...15,060,508
JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:20826268, PMID:22504327, PMID:23281133, PMID:23619761, PMID:23745001, PMID:25908487, PMID:26782618, PMID:27623337, PMID:30025130, PMID:30311386 NCBI chr15:47,344,380...47,384,461
Ensembl chr15:47,373,120...47,383,508
JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9697692, PMID:10053026, PMID:10090907, PMID:10520237, PMID:10937588, PMID:10942419, PMID:11262649, PMID:12657579, PMID:15032968, PMID:16472755, PMID:18376416, PMID:20021257, PMID:20669900, PMID:21738648, PMID:22072390, PMID:23150612, PMID:24940031, PMID:25097241, PMID:25741868, PMID:26355662, PMID:28041643, PMID:28209709, PMID:28492532, PMID:30311386, PMID:30718709 NCBI chr  X:2,066,298...2,116,661
Ensembl chr  X:2,064,486...2,116,656
JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Retinal dystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9326941, PMID:9501220, PMID:10766140, PMID:10937591, PMID:11095629, PMID:11462243, PMID:11786058, PMID:15024725, PMID:16150724, PMID:16754667, PMID:17724218, PMID:17964524, PMID:18599565, PMID:18632300, PMID:18682808, PMID:19117922, PMID:19431183, PMID:19854499, PMID:19959640, PMID:20604683, PMID:20683928, PMID:21151602, PMID:21153841, PMID:21211845, PMID:21654732, PMID:21911650, PMID:24997176, PMID:25257057, PMID:25741868, PMID:25752820, PMID:26024124, PMID:26626312, PMID:26906952, PMID:27307694, PMID:27874104, PMID:28041643, PMID:28041994, PMID:28492532, PMID:29332120, PMID:29659842, PMID:29785639, PMID:29947567, PMID:30311386, PMID:30628748, PMID:30718709, PMID:31379919 NCBI chr 2:266,141,581...266,169,197
Ensembl chr 2:266,141,581...266,169,197
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Retinal dystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9399904, PMID:9855162, PMID:10932196, PMID:10937588, PMID:11754050, PMID:11857109, PMID:11875055, PMID:11992260, PMID:17195164, PMID:25741868, PMID:26872967, PMID:28492532, PMID:30311386, PMID:30718709 NCBI chr  X:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12920076, PMID:15024725, PMID:25445212, PMID:25741868, PMID:28492532, PMID:28559085, PMID:28714225, PMID:30072743, PMID:30311386, PMID:30576320 NCBI chr15:28,521,287...28,575,046
Ensembl chr15:28,522,737...28,574,737
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:618178, PMID:9326935, PMID:9618178, PMID:9760195, PMID:10220153, PMID:10234514, PMID:10533068, PMID:10589241, PMID:10636421, PMID:10636740, PMID:10922205, PMID:10947001, PMID:12417531, PMID:12920343, PMID:12928282, PMID:15932525, PMID:15937075, PMID:16167295, PMID:16361673, PMID:17296904, PMID:17304551, PMID:17515881, PMID:17615541, PMID:17987333, PMID:18369700, PMID:18541843, PMID:18834580, PMID:19093009, PMID:19390641, PMID:20061330, PMID:20809529, PMID:21701876, PMID:22110067, PMID:22332228, PMID:23288992, PMID:23453514, PMID:23514609, PMID:23568735, PMID:23847049, PMID:24634885, PMID:25525159, PMID:26356828, PMID:26872967, PMID:27032803, PMID:28272453, PMID:28348004, PMID:28492532, PMID:28559085, PMID:29851975, PMID:29902095, PMID:30311386, PMID:30551202, PMID:30652005, PMID:30923717 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
JBrowse link
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9452120, PMID:15234147, PMID:22419846, PMID:22665972, PMID:28492532, PMID:28549094, PMID:29305604, PMID:30311386 NCBI chr 9:94,926,901...94,972,162
Ensembl chr 9:94,928,489...94,972,027
JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:26103963, PMID:28492532 NCBI chr 2:187,799,568...187,823,014
Ensembl chr 2:187,799,568...187,822,997
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:19390655, PMID:21862674, PMID:23667181, PMID:28041643, PMID:28492532, PMID:29977801, PMID:30311386 NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 8:70,409,683...70,438,352
Ensembl chr 8:70,408,528...70,436,028
JBrowse link
G Slc7a14 solute carrier family 7, member 14 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 2:115,678,344...115,788,688
Ensembl chr 2:115,678,344...115,788,687
JBrowse link
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16612614, PMID:19878916, PMID:21618346, PMID:24302620, PMID:24319334, PMID:24516651, PMID:24940031, PMID:28041643, PMID:28076437, PMID:28492532, PMID:28559085, PMID:30360737 NCBI chr 3:119,640,324...119,669,651
Ensembl chr 3:119,640,298...119,669,639
JBrowse link
G Spata7 spermatogenesis associated 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:21310915, PMID:22136677, PMID:25133751, PMID:25412400, PMID:29411205 NCBI chr 6:122,603,248...122,648,718
Ensembl chr 6:122,603,269...122,648,699
JBrowse link
G Syn3 synapsin III ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:23023527, PMID:26493035, PMID:27601084, PMID:28492532, PMID:28559085 NCBI chr 7:23,403,896...23,808,602
Ensembl chr 7:23,403,891...23,808,602
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:23023527, PMID:26493035, PMID:27601084, PMID:28492532, PMID:28559085 NCBI chr 7:23,543,125...23,594,170
Ensembl chr 7:23,544,215...23,594,133
JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:26872967 NCBI chr 5:56,554,956...56,566,503
Ensembl chr 5:56,554,969...56,567,320
JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:19896109, PMID:19896113, PMID:28492532 NCBI chr 1:124,983,391...125,101,759
Ensembl chr 1:124,983,452...125,099,573
JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 4:48,852,823...48,953,240
Ensembl chr 4:48,852,827...48,928,372
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:18414213, PMID:21258341, PMID:24876116, PMID:25741868, PMID:26940125, PMID:28492532, PMID:29068549 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
JBrowse link
G Ttc8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16308660, PMID:21044901, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 6:122,920,308...122,974,525
Ensembl chr 6:122,920,317...122,974,522
JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24791901, PMID:25741868 NCBI chr 6:109,693,915...109,910,479
Ensembl chr 6:109,710,781...109,879,607
JBrowse link
G Tub TUB bipartite transcription factor ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 1:173,550,929...173,629,550
Ensembl chr 1:173,607,101...173,625,550
JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9462750, PMID:9660588, PMID:22665969, PMID:25741868, PMID:26047050, PMID:26355662, PMID:26766544, PMID:28127548, PMID:28492532, PMID:28981474, PMID:30718709 NCBI chr20:7,931,673...7,943,601
Ensembl chr20:7,931,674...7,943,575
JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10973247, PMID:10973248, PMID:11139240, PMID:12107438, PMID:12630964, PMID:12702164, PMID:17407589, PMID:21569298, PMID:22135276, PMID:24033266, PMID:25741868, PMID:26969326, PMID:27208204, PMID:28041643, PMID:28492532, PMID:30718709 NCBI chr 1:102,207,096...102,256,779
Ensembl chr 1:102,207,096...102,255,459
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1968399, PMID:9624053, PMID:10090909, PMID:10729113, PMID:10738000, PMID:10775529, PMID:10909849, PMID:11311042, PMID:11402400, PMID:12112664, PMID:12427073, PMID:12525556, PMID:14970843, PMID:15015129, PMID:15025721, PMID:15043528, PMID:15241801, PMID:15325563, PMID:15326663, PMID:15671307, PMID:15823922, PMID:16098008, PMID:16963483, PMID:17085681, PMID:17296898, PMID:17405132, PMID:18273898, PMID:18281613, PMID:18452394, PMID:18463160, PMID:18641288, PMID:18665192, PMID:18665195, PMID:19023448, PMID:19129697, PMID:19683999, PMID:19737284, PMID:19881469, PMID:20052763, PMID:20145675, PMID:20301515, PMID:20440071, PMID:20497194, PMID:20507924, PMID:20513143, PMID:20591486, PMID:20596040, PMID:20613545, PMID:21151602, PMID:21174530, PMID:21234346, PMID:21569298, PMID:21593743, PMID:21686329, PMID:21738395, PMID:21909055, PMID:22004887, PMID:22009552, PMID:22135276, PMID:22334370, PMID:22495311, PMID:22563300, PMID:22581970, PMID:22681893, PMID:22952768, PMID:23352160, PMID:23591405, PMID:23661368, PMID:23737954, PMID:23755871, PMID:23767834, PMID:23924366, PMID:23940504, PMID:23967202, PMID:23991284, PMID:24033266, PMID:24043777, PMID:24088041, PMID:24154662, PMID:24160897, PMID:24265693, PMID:24498627, PMID:24516651, PMID:24603341, PMID:24607488, PMID:24625443, PMID:24853665, PMID:24901346, PMID:24938718, PMID:24944099, PMID:25078356, PMID:25097241, PMID:25133613, PMID:25133751, PMID:25211151, PMID:25252889, PMID:25261458, PMID:25262649, PMID:25268133, PMID:25324289, PMID:25326637, PMID:25333064, PMID:25342620, PMID:25356976, PMID:25366773, PMID:25375654, PMID:25404053, PMID:25412400, PMID:25425308, PMID:25472526, PMID:25521520, PMID:25525159, PMID:25558175, PMID:25575603, PMID:25649381, PMID:25741868, PMID:25804404, PMID:25823529, PMID:25910913, PMID:25999674, PMID:26075083, PMID:26261414, PMID:26306921, PMID:26310143, PMID:26338283, PMID:26355662, PMID:26416264, PMID:26467025, PMID:26633545, PMID:26654877, PMID:26667666, PMID:26764160, PMID:26766544, PMID:26806561, PMID:26856745, PMID:26872967, PMID:26927203, PMID:26969326, PMID:27032803, PMID:27145477, PMID:27157150, PMID:27160483, PMID:27208204, PMID:27318125, PMID:27344577, PMID:27460420, PMID:27583663, PMID:27596865, PMID:27624628, PMID:27957503, PMID:28000701, PMID:28005958, PMID:28041643, PMID:28127548, PMID:28130426, PMID:28157192, PMID:28281779, PMID:28492532, PMID:28559085, PMID:28653555, PMID:28761320, PMID:28838317, PMID:28894305, PMID:28944237, PMID:28981474, PMID:28984810, PMID:29074561, PMID:29142287, PMID:29196752, PMID:29293505, PMID:29343940, PMID:29490346, PMID:29588463, PMID:29625443, PMID:29641573, PMID:29767709, PMID:29785639, PMID:29899460, PMID:29912909, PMID:29953849, PMID:30190494, PMID:30245029, PMID:30280194, PMID:30311386, PMID:30459346, PMID:30543658, PMID:30718709, PMID:30872814, PMID:30948794, PMID:31877679 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
JBrowse link
G Vcan versican ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16043844, PMID:21738396 NCBI chr 2:18,490,102...18,587,340
Ensembl chr 2:18,490,102...18,565,842
JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:32581362 NCBI chr 7:74,118,834...74,722,341 JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868, PMID:26489029, PMID:28492532 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24033266, PMID:28492532 NCBI chr 5:79,235,541...79,317,206
Ensembl chr 5:79,234,950...79,317,206
JBrowse link
G Zdhhc24 zinc finger, DHHC-type containing 24 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12118255, PMID:12524598, PMID:12677556, PMID:12837689, PMID:12920096, PMID:15314642, PMID:17980398, PMID:18032602, PMID:18669544, PMID:18766993, PMID:20472660, PMID:20498079, PMID:21052717, PMID:21642631, PMID:22581970, PMID:22940089, PMID:23143442, PMID:23565731, PMID:23847139, PMID:23943788, PMID:24033266, PMID:25326635, PMID:25741868, PMID:26467025, PMID:26872967, PMID:27032803, PMID:27659767, PMID:28041643, PMID:28492532, PMID:29264490, PMID:30614526, PMID:30718709 NCBI chr 1:220,137,280...220,143,387
Ensembl chr 1:220,137,257...220,144,319
JBrowse link
G Zfp513 zinc finger protein 513 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 6:26,537,707...26,541,051
Ensembl chr 6:26,537,707...26,541,048
JBrowse link
G Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15258582, PMID:15322982, PMID:16269441, PMID:17389517, PMID:17512964, PMID:18779497, PMID:20683928, PMID:22065924, PMID:23847139, PMID:24265693, PMID:25741868, PMID:25910913, PMID:26047050, PMID:26103963, PMID:26667666, PMID:27208204, PMID:28041643, PMID:28492532, PMID:28559085, PMID:30311386 NCBI chr 6:102,409,235...102,472,962
Ensembl chr 6:102,409,881...102,472,926
JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25882705, PMID:28492532 NCBI chr 3:80,549,102...80,555,186 JBrowse link
Geographic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO protein:increased expression:aqueous humor of eyeball RGD PMID:24142887 RGD:8661224 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO protein:increased expression:monocyte RGD PMID:24142887 RGD:8661224
G Htra1 HtrA serine peptidase 1 ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human) RGD PMID:17426452 RGD:7394693 NCBI chr 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
JBrowse link
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma ISO ClinVar Annotator: match by term: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY ClinVar
OMIM
PMID:30893644 NCBI chr 6:76,056,585...76,079,755
Ensembl chr 6:76,056,499...76,079,664
JBrowse link
hereditary spastic paraplegia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 15
ClinVar Annotator: match by term: Spastic paraplegia 15
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:270700
OMIM
ClinVar
PMID:6944241, PMID:11342696, PMID:17661097, PMID:18098276, PMID:18394578, PMID:19805727, PMID:19917823, PMID:23733235, PMID:24088041, PMID:24267886, PMID:24833714, PMID:25133958, PMID:25497598, PMID:25525159, PMID:25741868, PMID:26467025, PMID:26633545, PMID:27217339, PMID:27544497, PMID:28492532 NCBI chr 6:102,409,235...102,472,962
Ensembl chr 6:102,409,881...102,472,926
JBrowse link
High Myopia with Cataract and Vitreoretinal Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P3h2 prolyl 3-hydroxylase 2 ISO ClinVar Annotator: match by term: Myopia, high, with cataract and vitreoretinal degeneration
ClinVar Annotator: match by OMIM:614292
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:21885030, PMID:24172257, PMID:25469533, PMID:25741868 NCBI chr11:78,028,885...78,169,746
Ensembl chr11:78,029,038...78,169,648
JBrowse link
Hyaloideoretinal Degeneration of Wagner term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO DNA:frameshift mutation:exon:p.C57X (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.G67D (human)
CTD PMID:11812423, PMID:11812423, PMID:8317498 RGD:8657385, RGD:8657389 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Vcan versican ISO ClinVar Annotator: match by term: Wagner syndrome
ClinVar Annotator: match by OMIM:143200
DNA:SNPs:intron:c.4004-5T>C, c.4004-5T>A, c.4004-1G>A (human)
OMIM
ClinVar
PMID:2319589, PMID:10333105, PMID:16043844, PMID:16636652, PMID:16877430, PMID:17035272, PMID:19655167, PMID:19901218, PMID:21738396, PMID:22739342, PMID:23462753, PMID:23571384, PMID:24174867, PMID:25741868, PMID:28492532, PMID:16877430 RGD:1598496 NCBI chr 2:18,490,102...18,587,340
Ensembl chr 2:18,490,102...18,565,842
JBrowse link
infantile cerebellar-retinal degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration
ClinVar Annotator: match by OMIM:614559
OMIM
ClinVar
PMID:22405087, PMID:24088041, PMID:25351951, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30689204, PMID:31130284, PMID:32214227, PMID:32519519 NCBI chr 7:123,102,493...123,145,608
Ensembl chr 7:123,102,468...123,145,635
JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration ClinVar PMID:24088041, PMID:25351951, PMID:25741868, PMID:30689204, PMID:31130284, PMID:32519519 NCBI chr 7:123,146,248...123,156,558
Ensembl chr 7:123,146,249...123,156,558
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scaper S-phase cyclin A-associated protein in the ER ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA ClinVar
OMIM
PMID:28794130, PMID:32214227 NCBI chr 8:60,127,039...60,593,568
Ensembl chr 8:60,126,624...60,570,058
JBrowse link
isolated microphthalmia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Microphthalmia, isolated 5
ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
ClinVar PMID:1258954, PMID:12140190, PMID:15976030, PMID:17167404, PMID:18554571, PMID:18648522, PMID:19169412, PMID:19753314, PMID:20361016, PMID:21670352, PMID:22142163, PMID:22605927, PMID:22892318, PMID:23112574, PMID:23143909, PMID:23742260, PMID:24088041, PMID:24531000, PMID:25097241, PMID:25412400, PMID:25741868, PMID:26583794, PMID:26633545, PMID:28492532, PMID:29170418, PMID:29450879, PMID:30181649 NCBI chr 8:48,443,515...48,445,639
Ensembl chr 8:48,443,767...48,445,637
JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Microphthalmia, isolated 5
ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
DNA:deletion,nonsense mutation:exons:p.N167TfsX25,p.Y317X(human)
ClinVar Annotator: match by OMIM:611040
OMIM
ClinVar
PMID:1258954, PMID:12140190, PMID:15976030, PMID:17167404, PMID:18554571, PMID:18648522, PMID:19169412, PMID:19753314, PMID:20361016, PMID:21670352, PMID:22142163, PMID:22605927, PMID:22892318, PMID:23112574, PMID:23143909, PMID:23742260, PMID:24088041, PMID:24531000, PMID:25097241, PMID:25412400, PMID:25741868, PMID:26583794, PMID:26633545, PMID:28492532, PMID:29170418, PMID:29450879, PMID:30181649, PMID:19753314 RGD:11553925 NCBI chr 8:48,437,720...48,443,421
Ensembl chr 8:48,437,918...48,443,421
JBrowse link
Jalili syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: Jalili syndrome OMIM
ClinVar
PMID:3236352, PMID:15173235, PMID:19200525, PMID:19200527, PMID:25741868, PMID:28492532, PMID:30718709 NCBI chr 9:43,049,587...43,088,690
Ensembl chr 9:43,049,587...43,088,702
JBrowse link
Joubert syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO DNA:missense mutation:cds:p.R830W (c.2488C>T) (human) RGD PMID:17409309 RGD:7246903 NCBI chr 1:16,478,127...16,601,769
Ensembl chr 1:16,478,127...16,601,769
JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Joubert syndrome 4
associated with Kidney Diseases, Cystic;DNA:mutation
OMIM
ClinVar
PMID:8852662, PMID:9326933, PMID:9856524, PMID:10712196, PMID:10839884, PMID:15138899, PMID:16155189, PMID:24746959, PMID:25741868, PMID:26477546, PMID:27491411, PMID:28492532, PMID:28624958, PMID:30311386, PMID:17409309 RGD:7246903 NCBI chr 3:120,316,048...120,370,089
Ensembl chr 3:120,316,047...120,373,500
JBrowse link
G Nphp4 nephrocystin 4 ISO DNA:mutations:exon, intron:multiple RGD PMID:15776426 RGD:11068164 NCBI chr 5:169,647,581...169,744,662
Ensembl chr 5:169,659,188...169,744,660
JBrowse link
Kearns-Sayre syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO RGD PMID:23406886 RGD:7241824 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Tfam transcription factor A, mitochondrial ISS OMIM:530000 MouseDO NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
JBrowse link
keratomalacia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbp4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9888420 NCBI chr 1:256,806,476...256,813,678
Ensembl chr 1:256,806,472...256,813,711
JBrowse link
Kuhnt-Junius degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anxa5 annexin A5 ISO mRNA:increased expression:white blood cell: RGD PMID:19684010 RGD:6478714 NCBI chr 2:123,162,477...123,194,730
Ensembl chr 2:123,162,461...123,193,130
JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:9512153, PMID:16079201 RGD:7495762, RGD:7775015 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G C3 complement C3 ISO DNA:SNP: :rs2241394 (human) RGD PMID:22174912 RGD:7401249 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 severity ISO protein:increased expression:aqueous humor of eyeball (human) RGD PMID:20937997 RGD:8548855 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO protein:increased expression:monocyte: RGD PMID:22789920 RGD:8661669
G Cfi complement factor I ISO DNA:SNPs: :rs10033900, rs13117504 (human) RGD PMID:23900096 RGD:8662315 NCBI chr 2:235,264,149...235,305,779
Ensembl chr 2:235,264,219