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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.


show annotations for term's descendants           Sort by:
 
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:9054934 PMID:9295268 PMID:9466990 PMID:9666097 PMID:9973280 PMID:10090887 PMID:10206579 PMID:10396622 PMID:10413692 PMID:10612508 PMID:10634594 PMID:10711710 PMID:10880298 PMID:10958761 PMID:10958763 PMID:11017087 PMID:11328725 PMID:11379881 PMID:11527935 PMID:11702214 PMID:11726554 PMID:11919200 PMID:11973624 PMID:12037008 PMID:12192456 PMID:12515255 PMID:12796258 PMID:15192030 PMID:15516930 PMID:15579991 PMID:16103129 PMID:16303926 PMID:16400609 PMID:16682602 PMID:18285826 PMID:18854780 PMID:19074458 PMID:19217903 PMID:20029649 PMID:20696155 PMID:20981092 PMID:21293320 PMID:21786275 PMID:21911583 PMID:22025579 PMID:22229821 PMID:22264887 PMID:22312191 PMID:22427542 PMID:22449572 PMID:22661473 PMID:22995991 PMID:23143460 PMID:23144455 PMID:23419329 PMID:23695285 PMID:23755871 PMID:23769331 PMID:23953153 PMID:24033266 PMID:24082139 PMID:24154662 PMID:24265693 PMID:24509150 PMID:24713488 PMID:24938718 PMID:25082885 PMID:25087612 PMID:25097241 PMID:25283059 PMID:25312043 PMID:25333069 PMID:25474345 PMID:25525159 PMID:25640233 PMID:25712131 PMID:25741868 PMID:25921964 PMID:26103963 PMID:26161775 PMID:26247787 PMID:26355662 PMID:26527198 PMID:26593885 PMID:26780318 PMID:26872967 PMID:27014590 PMID:27535533 PMID:27739528 PMID:27939946 PMID:28041643 PMID:28118664 PMID:28181551 PMID:28327576 PMID:28446513 PMID:28492532 PMID:28559085 PMID:29099798 PMID:29162642 PMID:29555955 PMID:29847635 PMID:29854428 PMID:29925512 PMID:29971439 PMID:30054919 PMID:30060493 PMID:30093795 PMID:30718709 PMID:31576780 PMID:33223529 PMID:33546218 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 ClinVar Annotator: match by term: Age-related macular degeneration 12 OMIM
ClinVar
PMID:25741868 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 PMID:28492532 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 PMID:25741868 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: Age-related macular degeneration 2
ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: MACULOPATHY, AGE-RELATED, 2
OMIM
ClinVar
PMID:9054934 PMID:9295268 PMID:9466990 PMID:9666097 PMID:9781034 PMID:9973280 PMID:10090887 PMID:10206579 PMID:10396622 PMID:10413692 PMID:10612508 PMID:10634594 PMID:10711710 PMID:10880298 PMID:10958761 PMID:10958763 PMID:11017087 PMID:11328725 PMID:11346402 PMID:11379881 PMID:11527935 PMID:11702214 PMID:11726554 PMID:11919200 PMID:11973624 PMID:12037008 PMID:12192456 PMID:12515255 PMID:12796258 PMID:14517951 PMID:15192030 PMID:15516930 PMID:15579991 PMID:15614537 PMID:16103129 PMID:16303926 PMID:16400609 PMID:16682602 PMID:17277736 PMID:18285826 PMID:18334942 PMID:18854780 PMID:19074458 PMID:19217903 PMID:19243736 PMID:19265867 PMID:20029649 PMID:20696155 PMID:20981092 PMID:21293320 PMID:21786275 PMID:21911583 PMID:22025579 PMID:22229821 PMID:22247458 PMID:22264887 PMID:22312191 PMID:22328824 PMID:22427542 PMID:22449572 PMID:22661473 PMID:22995991 PMID:23143460 PMID:23144455 PMID:23419329 PMID:23443024 PMID:23591405 PMID:23695285 PMID:23755871 PMID:23769331 PMID:23918662 PMID:23953153 PMID:24033266 PMID:24082139 PMID:24154662 PMID:24265693 PMID:24342785 PMID:24509150 PMID:24713488 PMID:24938718 PMID:25082885 PMID:25087612 PMID:25097241 PMID:25283059 PMID:25312043 PMID:25333069 PMID:25346251 PMID:25412400 PMID:25474345 PMID:25525159 PMID:25544989 PMID:25640233 PMID:25698705 PMID:25712131 PMID:25741868 PMID:25921964 PMID:25922843 PMID:26092729 PMID:26103963 PMID:26161775 PMID:26229699 PMID:26247787 PMID:26261413 PMID:26355662 PMID:26527198 PMID:26593885 PMID:26780318 PMID:26872967 PMID:26976702 PMID:27014590 PMID:27032803 PMID:27367509 PMID:27535533 PMID:27739528 PMID:27775217 PMID:27820952 PMID:27939946 PMID:28041643 PMID:28118664 PMID:28181551 PMID:28327576 PMID:28446513 PMID:28492532 PMID:28559085 PMID:29099798 PMID:29114839 PMID:29162642 PMID:29186038 PMID:29310964 PMID:29461686 PMID:29555955 PMID:29847635 PMID:29848554 PMID:29854428 PMID:29925512 PMID:29971439 PMID:30054919 PMID:30060493 PMID:30093795 PMID:30337596 PMID:30576320 PMID:30643219 PMID:30718709 PMID:31576780 PMID:31614660 PMID:31618761 PMID:32307445 PMID:33223529 PMID:33546218 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 PMID:29888403 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 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: Age-related macular degeneration 9
ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO
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 PMID:30131807 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:9536098 PMID:11941369 PMID:11941370 PMID:15689433 PMID:16720663 PMID:17576681 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:24503146 PMID:24595103 PMID:24830966 PMID:25296579 PMID:25468891 PMID:25533962 PMID:25706677 PMID:25741868 PMID:25846608 PMID:25999675 PMID:26010121 PMID:26047050 PMID:26082521 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:30064963 PMID:31638414 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:30718709 PMID:33546218 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: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 PMID:29888403 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:2162627 PMID:9700209 PMID:10788642 PMID:10798642 PMID:10854112 PMID:16754206 PMID:17110374 PMID:17287362 PMID:18179881 PMID:18985398 PMID:20927214 PMID:21192766 PMID:21269699 PMID:21273940 PMID:21330666 PMID:21412020 PMID:21738390 PMID:21809908 PMID:21825197 PMID:21878505 PMID:22183385 PMID:22422030 PMID:23290749 PMID:23572118 PMID:23825107 PMID:24033266 PMID:24560797 PMID:25489231 PMID:25741868 PMID:26200502 PMID:26201355 PMID:26333019 PMID:26720466 PMID:27519691 PMID:28041643 PMID:28492532 PMID:28687848 PMID:29507198 PMID:29555955 PMID:29668979 PMID:29781975 PMID:30593719 PMID:30718709 PMID:32141364 PMID:33546218 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:25741868 PMID:27096895 PMID:27258436 PMID:27628848 PMID:28041643 PMID:28181551 PMID:28492532 PMID:28819299 PMID:29391521 PMID:33546218 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Bestrophinopathy, autosomal recessive ClinVar PMID:15370544 PMID:16113362 PMID:16799052 PMID:22466463 PMID:25001182 PMID:25082885 PMID:25097241 PMID:25741868 PMID:28492532 PMID:33546218 NCBI chr 9:16,085,933...16,386,176 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:25741868 PMID:28041643 PMID:28492532 PMID:29186038 PMID:30718709 PMID:33546218 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:33546218 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: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism
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:3963113 PMID:8053762 PMID:9321767 PMID:18313024 PMID:20603202 PMID:24355708 PMID:25033069 PMID:25480986 PMID:25574898 PMID:25741868 PMID:28492532 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: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 PMID:33546218 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:8554074 PMID:8733141 PMID:9536098 PMID:9618177 PMID:10766140 PMID:10951519 PMID:11115851 PMID:12552567 PMID:15175914 PMID:16505055 PMID:17576681 PMID:17724218 PMID:17964524 PMID:20050595 PMID:22695961 PMID:23035049 PMID:25477517 PMID:25741868 PMID:26253563 PMID:26298565 PMID:26626312 PMID:28492532 PMID:29061346 PMID:29559409 PMID:30718709 PMID:33546218 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 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
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 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:30718709 PMID:33546218, 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
G Gla galactosidase, alpha ISO ClinVar Annotator: match by term: Benign concentric annular macular dystrophy ClinVar PMID:11889412 PMID:20360539 PMID:22905681 PMID:23219219 PMID:23806086 PMID:23935525 PMID:24015197 PMID:24033266 PMID:24088041 PMID:24582695 PMID:25382311 PMID:25687216 PMID:25741868 PMID:26866599 PMID:26990548 PMID:27657681 PMID:28340804 PMID:28492532 PMID:28646478 PMID:29132836 NCBI chr  X:105,405,915...105,417,331
Ensembl chr  X:105,406,792...105,417,323
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:9536098 PMID:10393054 PMID:17576681 PMID:18614542 PMID:19615668 PMID:25326637 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28704108 PMID:30080950 PMID:33546218 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 Dystrophy, Recessive
ClinVar Annotator: match by term: Cone-rod degeneration
ClinVar PMID:9054934 PMID:9295268 PMID:9466990 PMID:9536098 PMID:9666097 PMID:9781034 PMID:9973280 PMID:10090887 PMID:10413692 PMID:10458172 PMID:10612508 PMID:10634594 PMID:10711710 PMID:10880298 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:14971589 PMID:15108289 PMID:15192030 PMID:15494742 PMID:15516930 PMID:16103129 PMID:16123440 PMID:16303926 PMID:16400609 PMID:17576681 PMID:17724221 PMID:17982420 PMID:18024811 PMID:18285826 PMID:18854780 PMID:18977788 PMID:19028736 PMID:19074458 PMID:19243736 PMID:19365591 PMID:20029649 PMID:20335603 PMID:20696155 PMID:20981092 PMID:21911583 PMID:22025579 PMID:22229821 PMID:22264887 PMID:22449572 PMID:22661472 PMID:22735453 PMID:22968130 PMID:22995991 PMID:23096905 PMID:23143460 PMID:23144455 PMID:23419329 PMID:23695285 PMID:23755871 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:25444351 PMID:25472526 PMID:25474345 PMID:25741868 PMID:25910913 PMID:26103963 PMID:26247787 PMID:26593885 PMID:26872967 PMID:27014590 PMID:27628848 PMID:27739528 PMID:27820952 PMID:28041643 PMID:28118664 PMID:28166811 PMID:28224992 PMID:28430335 PMID:28446513 PMID:28492532 PMID:28559085 PMID:29114839 PMID:29145636 PMID:29162642 PMID:29310964 PMID:29555955 PMID:29854428 PMID:29925512 PMID:29971439 PMID:29975949 PMID:30054919 PMID:30060493 PMID:30093795 PMID:30718709 PMID:31015497 PMID:31576780 PMID:32307445 PMID:32619608 PMID:33546218 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
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 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 degeneration
ClinVar PMID:19074807 PMID:23714322 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 Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar PMID:23591405 PMID:24033266 PMID:25741868 PMID:27353947 PMID:28224992 PMID:28492532 PMID:28765526 PMID:28885867 PMID:30718709 PMID:33546218 NCBI chr16:14,328,161...14,348,049
Ensembl chr16:14,328,160...14,348,046
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Rod-cone dystrophy
ClinVar PMID:25741868 PMID:28492532 PMID:30193310 PMID:30718709 NCBI 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 PMID:14681825 PMID:21151602 PMID:22164218 PMID:24043777 PMID:24625443 PMID:25097241 PMID:25741868 PMID:25999674 PMID:28041643 PMID:28492532 PMID:30718709 PMID:221642182 NCBI chr 3:66,268,835...66,395,615
Ensembl chr 3:66,268,947...66,394,764
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:25741868 PMID:28492532 PMID:28981474 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 degeneration ClinVar PMID:11536077 PMID:24033266 PMID:25741868 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 dystrophy ClinVar PMID:1347967 PMID:10888875 PMID:10958649 PMID:11124331 PMID:12815043 PMID:14757870 PMID:15657609 PMID:15712225 PMID:16379026 PMID:17265047 PMID:23805033 PMID:24033266 PMID:25741868 PMID:25770143 PMID:28041643 PMID:28492532 PMID:28795510 PMID:30718709 PMID:32860008 PMID:33546218 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 PMID:25741868, 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 Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Rod-cone dystrophy
ClinVar PMID:25741868 PMID:28492532 NCBI 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: Cone-rod degeneration
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar PMID:25741868 PMID:28492532 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
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 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 MGC94199 similar to RIKEN cDNA 2610301B20; EST AI428449 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive 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 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 Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO 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 Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:10655056 PMID:15453866 PMID:15459973 PMID:18294254 PMID:19273793 PMID:19718767 PMID:21217109 PMID:23039133 PMID:23591405 PMID:23989059 PMID:24474277 PMID:25079116 PMID:25097241 PMID:25703721 PMID:25741868 PMID:28041643 PMID:28492532 PMID:30718709 NCBI 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 Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Rod-cone dystrophy
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar PMID:25741868 PMID:30718709 NCBI 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 Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant ClinVar 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 Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone Rod Dystrophy
ClinVar PMID:7493155 PMID:8015786 PMID:8302543 PMID:8485576 PMID:8675410 PMID:8747448 PMID:8994365 PMID:9010868 PMID:9443872 PMID:11139241 PMID:14510799 PMID:14557183 PMID:15370544 PMID:15779916 PMID:16113362 PMID:16799052 PMID:18310263 PMID:20213611 PMID:22183351 PMID:22466463 PMID:24463884 PMID:24629188 PMID:25001182 PMID:25082885 PMID:25097241 PMID:25474345 PMID:25675413 PMID:25741868 PMID:26161267 PMID:26842753 PMID:28492532 PMID:30718709 PMID:32531846 PMID:33546218 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 Rho rhodopsin ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:7981701 PMID:8088850 PMID:9380676 PMID:11139241 PMID:12871954 PMID:17488458 PMID:19913029 PMID:21094163 PMID:21219898 PMID:25741868 PMID:28492532 PMID:29847639 PMID:30240733 PMID:30718709 NCBI 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 PMID:28492532 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 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 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 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 NCBI chr 3:119,640,324...119,669,651
Ensembl chr 3:119,640,298...119,669,639
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 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 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 Dystrophy, Recessive
ClinVar PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 PMID:12112664 PMID:14970843 PMID:15015129 PMID:15025721 PMID:15043528 PMID:15241801 PMID:15325563 PMID:15326663 PMID:16963483 PMID:17405132 PMID:18273898 PMID:18641288 PMID:18665195 PMID:19881469 PMID:20145675 PMID:20301515 PMID:20513143 PMID:21569298 PMID:22135276 PMID:22581970 PMID:24033266 PMID:24088041 PMID:24160897 PMID:24498627 PMID:24607488 PMID:24944099 PMID:25097241 PMID:25404053 PMID:25575603 PMID:25649381 PMID:25741868 PMID:25991456 PMID:26338283 PMID:26633545 PMID:26872967 PMID:26927203 PMID:27208204 PMID:27460420 PMID:27957503 PMID:28041643 PMID:28492532 PMID:28512305 PMID:29953849 PMID:30718709 NCBI 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:17605048 PMID:18654668 PMID:19718270 PMID:20393116 PMID:20554613 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:28095140 PMID:28492532 PMID:28559085 PMID:29555955 PMID:29847639 PMID:30718709 PMID:33546218 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:9536098 PMID:11283794 PMID:11528500 PMID:12920076 PMID:14971589 PMID:15800011 PMID:16123401 PMID:16339905 PMID:16374347 PMID:17576681 PMID:17964524 PMID:18055816 PMID:18682808 PMID:20079931 PMID:21153841 PMID:21224891 PMID:21857984 PMID:22025579 PMID:22277662 PMID:23105016 PMID:23213406 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:28166811 PMID:28442884 PMID:28492532 PMID:30184081 PMID:30622141 PMID:30718709 PMID:31728034 PMID:31979372 PMID:32025184 PMID:33546218 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
G Rho rhodopsin ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar PMID:17936999 PMID:23484092 PMID:25741868 PMID:28492532 NCBI chr 4:147,832,136...147,837,298
Ensembl chr 4:147,832,136...147,837,298
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:9536098 PMID:17576681 PMID:20087419 PMID:20805371 PMID:23591405 PMID:24033266 PMID:24154662 PMID:25741868 PMID:26766544 PMID:27353947 PMID:27623334 PMID:28041643 PMID:28224992 PMID:28418496 PMID:28492532 PMID:28765526 PMID:28885867 PMID:29785639 PMID:30576320 PMID:30718709 PMID:30992995 PMID:33546218 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:25741868 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 PMID:28492532 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 PMID:25741868 PMID:28492532 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:26161267 PMID:26355662 PMID:28492532 PMID:29068479 PMID:30543658 PMID:30718709 PMID:31215831 PMID:33546218 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 Galnt4 polypeptide N-acetylgalactosaminyltransferase 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 20 ClinVar PMID:25741868 NCBI chr 7:41,305,437...41,309,621 JBrowse link
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: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:15161829 PMID:15192030 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:19074458 PMID:19217903 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: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:30576320 PMID:30718709 PMID:31576780 PMID:33223529 PMID:33546218 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 Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr10:55,744,646...55,756,524
Ensembl chr10:55,744,588...55,756,566
JBrowse link
G Alox15b arachidonate 15-lipoxygenase, type B ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr10:55,773,748...55,783,489
Ensembl chr10:55,774,006...55,783,489
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr10:55,711,996...55,735,915
Ensembl chr10:55,712,043...55,735,911
JBrowse link
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 Cntrob centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr10:55,901,929...55,927,121
Ensembl chr10:55,901,901...55,924,158
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6
ClinVar Annotator: match by term: Retinal cone dystrophy 2
ClinVar Annotator: match by OMIM:601777
OMIM
ClinVar
PMID:8554074 PMID:8944027 PMID:9536098 PMID:9618177 PMID:9683616 PMID:10636733 PMID:10676808 PMID:10766140 PMID:10951519 PMID:11035546 PMID:11115851 PMID:11328726 PMID:11565546 PMID:12552567 PMID:15024725 PMID:15111605 PMID:15175914 PMID:16123401 PMID:16505055 PMID:17576681 PMID:17724218 PMID:17964524 PMID:18055816 PMID:18055820 PMID:20050595 PMID:20079931 PMID:20517349 PMID:20683928 PMID:21602930 PMID:22025579 PMID:22695961 PMID:23035049 PMID:23661368 PMID:23847139 PMID:24033266 PMID:24265693 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:30718709 PMID:33546218 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:25741868 NCBI chr 1:245,396,880...245,475,011
Ensembl chr 1:245,396,989...245,416,531
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:24033266 PMID:25741868 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:9536098 PMID:15141358 PMID:16648375 PMID:17576681 PMID:17990063 PMID:18414213 PMID:19006247 PMID:20683995 PMID:20921020 PMID:23352163 PMID:23757202 PMID:24033266 PMID:25502226 PMID:25741868 PMID:26133662 PMID:26395554 PMID:26443248 PMID:26467025 PMID:27175599 PMID:27353947 PMID:27829003 PMID:28041643 PMID:28492532 NCBI chr 7:74,118,834...74,722,341
Ensembl chr 7:75,852,610...75,858,812
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:33546218, 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:9536098 PMID:10420194 PMID:13372143 PMID:14708629 PMID:15805154 PMID:17576681 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: Enhanced s-cone syndrome
ClinVar Annotator: match by term: Goldmann-Favre syndrome
ClinVar Annotator: match by term: NR2E3-Related Disorders
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:22711506 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: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:14510799 PMID:18310263 PMID:24629188 PMID:25474345 PMID:25741868 PMID:26161267 PMID:28492532 PMID:30718709 PMID:32531846, 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: Fundus albipunctatus, autosomal recessive
ClinVar Annotator: match by term: Pigmentary retinal dystrophy
CTD Direct Evidence: marker/mechanism
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:14991316 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 PMID:30718709 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: Pigmentary retinal dystrophy
ClinVar Annotator: match by term: Retinitis punctata albescens
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1484692 PMID:1862076 PMID:1882937 PMID:8107847 PMID:8554077 PMID:8841304 PMID:9197578 PMID:16767206 PMID:18175313 PMID:21217109 PMID:25101269 PMID:25741868 PMID:25999674 PMID:28492532 PMID:28559085 PMID:30718709 PMID:30977563 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: Pigmentary retinal dystrophy
ClinVar Annotator: match by term: Retinitis punctata albescens
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:22559933 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:9054934 PMID:9295268 PMID:9466990 PMID:9490294 PMID:9503029 PMID:9536098 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:16199547 PMID:16303926 PMID:16400609 PMID:16533065 PMID:16546111 PMID:16682602 PMID:16703556 PMID:16896346 PMID:16917483 PMID:17277736 PMID:17296903 PMID:17325136 PMID:17576681 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: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:24677105 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:27535533 PMID:27583828 PMID:27699414 PMID:27739528 PMID:27775217 PMID:27820952 PMID:27939946 PMID:28041643 PMID:28118664 PMID:28130426 PMID:28147405 PMID:28166811 PMID:28181551 PMID:28224992 PMID:28327576 PMID:28341476 PMID:28355279 PMID:28430335 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:29641573 PMID:29847635 PMID:29847651 PMID:29854428 PMID:29925512 PMID:29975949 PMID:30029497 PMID:30054919 PMID:30060493 PMID:30093795 PMID:30337596 PMID:30563929 PMID:30576320 PMID:30718709 PMID:30820146 PMID:30834176 PMID:31015497 PMID:31144483 PMID:31397521 PMID:31576780 PMID:32307445 PMID:32619608 PMID:33223529 PMID:33546218 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 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 AGBL carboxypeptidase 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 PMID:28492532 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:16582908 PMID:20080638 PMID:20120035 PMID:20177705 PMID:20472660 PMID:20498079 PMID:20805367 PMID:20876674 PMID:21044901 PMID:21157496 PMID:21209035 PMID:21517826 PMID:21642631 PMID:22410627 PMID:22773737 PMID:24033266 PMID:24400638 PMID:24746959 PMID:25741868 PMID:25982971 PMID:26003401 PMID:26467025 PMID:27385962 PMID:27486776 PMID:27659767 PMID:27788217 PMID:28041643 PMID:28143435 PMID:28492532 PMID:28808579 PMID:30614526 PMID:30718709 NCBI 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:21463199 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:30029678 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:25741868 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:25741868 PMID:28492532 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:9536098 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:17576681 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:29847639 PMID:29976937 PMID:30593719 PMID:30718709 PMID:33546218 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:25741868 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 PMID:28492532 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:18484607 PMID:21940737 PMID:24033266 PMID:25468891 PMID:25472526 PMID:25741868 PMID:26399936 PMID:26467025 PMID:27208204 PMID:28492532 PMID:30718709 PMID:31546658 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:30718709 PMID:33546218 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:25741868 PMID:26356828 PMID:26872967 PMID:27032803 PMID:28272453 PMID:28348004 PMID:28492532 PMID:28559085 PMID:29851975 PMID:29902095 PMID:30551202 PMID:30652005 PMID:30923717 PMID:33546218 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:25741868 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:30718709 PMID:31734136 PMID:33546218 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: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:9536098 PMID:17576681 PMID:25741868 PMID:26167768 PMID:26974433 PMID:27548899 PMID:27596865 PMID:28041643 PMID:28422394 PMID:28492532 PMID:30029497 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:25741868 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:9311735 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: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:30337596 PMID:30682209 PMID:30711023 PMID:33546218 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:9536098 PMID:10888875 PMID:10958649 PMID:11124331 PMID:12815043 PMID:14757870 PMID:15459792 PMID:15657609 PMID:15712225 PMID:16319819 PMID:16379026 PMID:17265047 PMID:17576681 PMID:17652762 PMID:19592100 PMID:20079539 PMID:20574029 PMID:23805033 PMID:24033266 PMID:24148654 PMID:25205868 PMID:25525159 PMID:25558176 PMID:25741868 PMID:25770143 PMID:27479814 PMID:27874104 PMID:28041643 PMID:28492532 PMID:28795510 PMID:29186038 PMID:29769798 PMID:30718709 PMID:32860008 PMID:33546218 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:25741868 PMID:28041643 PMID:28492532 PMID:29977801 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:25741868 PMID:26747767 PMID:27390512 PMID:28492532 PMID:29453956 PMID:30181686 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:30576320 PMID:30718709 PMID:33546218 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:25741868 PMID:26161267 PMID:28041643 PMID:28492532 PMID:29068479 PMID:30543658 PMID:31215831 PMID:33546218 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:9536098 PMID:17576681 PMID:25741868 PMID:28041643 PMID:28492532 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 PMID:25741868 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:25741868 PMID:28492532 PMID:30541486 PMID:33546218 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:23591405 PMID:25741868 PMID:26467025 PMID:27353947 PMID:28492532 NCBI chr13:109,578,294...109,624,235
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 PMID:28492532 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 PMID:28492532 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:11115851 PMID:11565546 PMID:12552567 PMID:15175914 PMID:16505055 PMID:17724218 PMID:17964524 PMID:20050595 PMID:23035049 PMID:24875811 PMID:25477517 PMID:25741868 PMID:26047050 PMID:26253563 PMID:26298565 PMID:26626312 PMID:28041643 PMID:28492532 PMID:29061346 PMID:29559409 PMID:30718709 PMID:33546218 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:9536098 PMID:17033958 PMID:17397050 PMID:17576681 PMID:18024218 PMID:19479962 PMID:19823584 PMID:20583299 PMID:20825431 PMID:23301227 PMID:24767253 PMID:25491247 PMID:25741868 PMID:25859010 PMID:28041643 PMID:28492532 PMID:31228227 NCBI 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:9536098 PMID:17576681 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:9536098 PMID:17576681 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:9536098 PMID:17576681 PMID:20673862 PMID:24876279 PMID:25472526 PMID:25741868 PMID:26667666 PMID:28041643 PMID:28492532 PMID:28771251 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:25741868 PMID:25818971 PMID:26092869 PMID:28492532 PMID:29230161 PMID:30202406 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 PMID:33546218 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:25741868 PMID:28492532 PMID:28837078 PMID:29057815 PMID:31556760 PMID:32052671 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 PMID:31856884 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:17546029 PMID:19503738 PMID:21606596 PMID:23946133 PMID:25356970 PMID:25412400 PMID:25741868 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: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:16252235 PMID:27208204 PMID:28492532 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:9536098 PMID:11062461 PMID:11592982 PMID:11727200 PMID:15111602 PMID:17301963 PMID:17576681 PMID:19956407 PMID:24265693 PMID:24625443 PMID:25097241 PMID:25741868 PMID:26263531 PMID:26355662 PMID:28041643 PMID:28492532 PMID:28559085 PMID:29068140 PMID:29074561 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:25741868 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 MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10802661 PMID:10973251 PMID:11567139 PMID:18094050 PMID:20177705 PMID:20498079 PMID:25741868 PMID:25982971 PMID:28492532 NCBI 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:8900236 PMID:9002678 PMID:9259201 PMID:9382091 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10930322 PMID:12112664 PMID:15043528 PMID:15660226 PMID:15823922 PMID:16400615 PMID:16470552 PMID:16652077 PMID:16679490 PMID:16963483 PMID:17361009 PMID:18181211 PMID:18463160 PMID:18484607 PMID:18700726 PMID:19074810 PMID:19299023 PMID:19683999 PMID:20497194 PMID:20513143 PMID:21311020 PMID:21436283 PMID:21569298 PMID:21873662 PMID:22135276 PMID:23148716 PMID:23208854 PMID:23451239 PMID:23770805 PMID:24033266 PMID:24199935 PMID:24831256 PMID:25080338 PMID:25404053 PMID:25468891 PMID:25472526 PMID:25525159 PMID:25575603 PMID:25741868 PMID:25788563 PMID:26338283 PMID:26486028 PMID:26791358 PMID:26872967 PMID:26969326 PMID:27068579 PMID:27160483 PMID:27208204 PMID:27344577 PMID:27460420 PMID:27583663 PMID:27743452 PMID:27957503 PMID:28041643 PMID:28492532 PMID:28559085 PMID:28944237 PMID:30303587 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: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:15591106 PMID:17335001 PMID:21981118 PMID:22334370 PMID:25741868 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:25741868 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 PMID:33546218 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 PMID:28492532 NCBI chr15:25,500,037...25,511,619
Ensembl chr15:25,502,019...25,505,691
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:25741868 PMID:27353947 PMID:28041643 PMID:28492532 PMID:28763557 PMID:33546218 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:9536098 PMID:10393062 PMID:17110911 PMID:17576681 PMID:18849587 PMID:21039428 PMID:22128245 PMID:23105016 PMID:23134348 PMID:23847139 PMID:24339724 PMID:24416769 PMID:25741868 PMID:25775262 PMID:26188004 PMID:26806561 PMID:26868535 PMID:27208204 PMID:27551530 PMID:27917291 PMID:28041643 PMID:28157543 PMID:28492532 PMID:29693493 PMID:30718709 NCBI 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:9536098 PMID:12525556 PMID:17267005 PMID:17576681 PMID:22334370 PMID:23105016 PMID:24033266 PMID:24265693 PMID:24938718 PMID:25097241 PMID:25356976 PMID:25741868 PMID:25823529 PMID:26355662 PMID:26766544 PMID:27353947 PMID:27898983 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28912962 PMID:29641573 PMID:30054919 PMID:30646425 PMID:30718709 PMID:30924848 PMID:30998820 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:30362618 PMID:31374812 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:10767344 PMID:11555634 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 PMID:25741868 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:16199547 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 PMID:33546218 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:25741868 PMID:28492532 PMID:28559085 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:27208204 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:26796962 PMID:26842753 PMID:28041643 PMID:28076437 PMID:28492532 PMID:28559085 PMID:28723922 PMID:29555955 PMID:30718709 PMID:30822235 PMID:33546218, 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:25741868 PMID:28967191 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 PMID:28492532 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: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:10967073 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:25408095 PMID:25741868 PMID:26962691 PMID:28041643 PMID:28492532 PMID:28559085 PMID:29068140 PMID:29847639 PMID:30240733 PMID:30718709 PMID:30977563 PMID:31319082 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:25741868 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:19933189 PMID:22334370 PMID:24339724 PMID:25692139 PMID:25741868 PMID:26355662 PMID:27208204 PMID:27391102 PMID:28041643 PMID:28492532 PMID:29068140 PMID:29425069 PMID:29847639 PMID:30027431 PMID:30718709 PMID:33546218 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:25741868 PMID:25908487 PMID:26782618 PMID:27623337 PMID:30025130 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: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:12960219 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:20079931 PMID:20604683 PMID:20683928 PMID:21151602 PMID:21153841 PMID:21211845 PMID:21654732 PMID:21911650 PMID:24849605 PMID:24997176 PMID:25257057 PMID:25741868 PMID:25752820 PMID:26024124 PMID:26427455 PMID:26626312 PMID:26906952 PMID:27307694 PMID:27874104 PMID:28041643 PMID:28041994 PMID:28492532 PMID:29332120 PMID:29659842 PMID:29785639 PMID:29947567 PMID:30628748 PMID:30718709 PMID:31379919 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:23150612 PMID:25741868 PMID:26872967 PMID:28492532 PMID:30718709 PMID:32679846 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: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:25741868 PMID:26356828 PMID:26872967 PMID:27032803 PMID:28272453 PMID:28348004 PMID:28492532 PMID:28559085 PMID:29851975 PMID:29902095 PMID:30551202 PMID:30652005 PMID:30923717 PMID:33546218 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:25741868 PMID:28492532 PMID:28549094 PMID:29305604 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:25741868 PMID:28041643 PMID:28492532 PMID:29977801 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 PMID:25741868 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:27208204 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 PMID:9536098 PMID:17576681 PMID:28492532 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 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:30303587 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:9536098 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:16199547 PMID:16963483 PMID:17085681 PMID:17405132 PMID:17576681 PMID:18273898 PMID:18281613 PMID:18452394 PMID:18463160 PMID:18641288 PMID:18665192 PMID:18665195 PMID:19023448 PMID:19129697 PMID:19683999 PMID:19737284 PMID:19881469 PMID:20052763 PMID:20145675 PMID:20301515 PMID:20440071 PMID:20497194 PMID:20507924 PMID:20513143 PMID:20591486 PMID:20596040 PMID:20613545 PMID:21151602 PMID:21569298 PMID:21593743 PMID:21686329 PMID:21738395 PMID:21909055 PMID:22004887 PMID:22009552 PMID:22135276 PMID:22334370 PMID:22563300 PMID:22581970 PMID:22681893 PMID:22952768 PMID:23352160 PMID:23591405 PMID:23661368 PMID:23737954 PMID:23755871 PMID:23767834 PMID:23924366 PMID:23940504 PMID:23967202 PMID:23991284 PMID:24033266 PMID:24043777 PMID:24088041 PMID:24154662 PMID:24160897 PMID:24265693 PMID:24498627 PMID:24516651 PMID:24603341 PMID:24607488 PMID:24625443 PMID:24853665 PMID:24901346 PMID:24938718 PMID:24944099 PMID:25078356 PMID:25097241 PMID:25133613 PMID:25133751 PMID:25211151 PMID:25252889 PMID:25261458 PMID:25262649 PMID:25268133 PMID:25324289 PMID:25326637 PMID:25333064 PMID:25342620 PMID:25356976 PMID:25366773 PMID:25375654 PMID:25404053 PMID:25412400 PMID:25425308 PMID:25472526 PMID:25521520 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25649381 PMID:25741868 PMID:25804404 PMID:25823529 PMID:25910913 PMID:25999674 PMID:26075083 PMID:26261414 PMID:26306921 PMID:26310143 PMID:26338283 PMID:26355662 PMID:26416264 PMID:26467025 PMID:26633545 PMID:26654877 PMID:26667666 PMID:26764160 PMID:26766544 PMID:26806561 PMID:26856745 PMID:26872967 PMID:26927203 PMID:26969326 PMID:27032803 PMID:27145477 PMID:27157150 PMID:27160483 PMID:27208204 PMID:27318125 PMID:27344577 PMID:27460420 PMID:27583663 PMID:27596865 PMID:27624628 PMID:27957503 PMID:28000701 PMID:28005958 PMID:28041643 PMID:28127548 PMID:28130426 PMID:28157192 PMID:28281779 PMID:28492532 PMID:28559085 PMID:28653555 PMID:28761320 PMID:28838317 PMID:28894305 PMID:28944237 PMID:28981474 PMID:28984810 PMID:29074561 PMID:29142287 PMID:29196752 PMID:29293505 PMID:29343940 PMID:29490346 PMID:29588463 PMID:29625443 PMID:29641573 PMID:29767709 PMID:29785639 PMID:29899460 PMID:29912909 PMID:29953849 PMID:30190494 PMID:30245029 PMID:30280194 PMID:30459346 PMID:30543658 PMID:30718709 PMID:30872814 PMID:30902645 PMID:30924848 PMID:30948794 PMID:31047384 PMID:31429209 PMID:31456290 PMID:31836858 PMID:31872526 PMID:31877679 PMID:31960602 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:16877430 PMID:21738396 PMID:22739342 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
Ensembl chr 7:75,852,610...75,858,812
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 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:24833714 PMID:25133958 PMID:25497598 PMID:25525159 PMID:25741868 PMID:26467025 PMID:26633545 PMID:27217339 PMID:27544497 PMID:28492532 PMID:31108397 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:28166811 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:28559085 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:28492532 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:9536098 PMID:12140190 PMID:15976030 PMID:17167404 PMID:17576681 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:28166811 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:9536098 PMID:12140190 PMID:15976030 PMID:17167404 PMID:17576681 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:28166811 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:9536098 PMID:9856524 PMID:10620543 PMID:10712196 PMID:10839884 PMID:15138899 PMID:16155189 PMID:17576681 PMID:17855640 PMID:24746959 PMID:25525159 PMID:25741868 PMID:26477546 PMID:27491411 PMID:27806791 PMID:28492532 PMID:28624958, 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...235,305,781
JBrowse link
G Crp C-reactive protein treatment ISO DNA:SNPs: :rs2808635,rs876538(human) RGD PMID:19692124, PMID:17400294 RGD:9491756, RGD:9491775 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Eln elastin no_association ISO DNA:SNPintron: rs2301995(human) RGD PMID:22065928, PMID:18326737 RGD:7387224, RGD:9585729 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Fgd6 FYVE, RhoGEF and PH domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27089177 NCBI chr 7:34,951,878...35,063,006
Ensembl chr 7:34,952,011...35,063,929
JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 susceptibility
treatment
ISO DNA:SNP::rs9943922, rs9508034, rs2281827, rs7324510, rs9513115 (human)
protein:increased expression:vitreous:
RGD PMID:24812550, PMID:22868384, PMID:20609706 RGD:10402108, RGD:10402118, RGD:10402116 NCBI chr12:9,033,993...9,205,886
Ensembl chr12:9,034,308...9,205,905
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion, haplotype:: (human) RGD PMID:28221473 RGD:12792224 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:polymorphism::(rs1695)(human)
DNA:deletion, haplotype:: (human)
RGD PMID:22487578, PMID:28221473 RGD:8547932, RGD:12792224 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion, haplotype:: (human) RGD PMID:28221473 RGD:12792224 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human)
DNA:silent mutations:exon:g.+102C>T, g.+108G>T/C (rs1049331, rs2293870) (human)
RGD PMID:22800422, PMID:18164066 RGD:7387322, RGD:7394724 NCBI chr 1:201,499,067...201,548,508
Ensembl chr 1:201,499,028...201,548,513
JBrowse link
G Igf1 insulin-like growth factor 1 ISO protein:increased expression:aqueous humor of eyeball:
mRNA,protein:increased expression:endothelial cell:
RGD PMID:24106111, PMID:12714661 RGD:10045867, RGD:10045893 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO mRNA,protein:increased expression:endothelial cell: RGD PMID:12714661 RGD:10045893 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Igfbp2 insulin-like growth factor binding protein 2 ISO protein:increased expression:aqueous humor of eyeball: RGD PMID:24106111 RGD:10045867 NCBI chr 9:80,118,029...80,144,804
Ensembl chr 9:80,118,029...80,144,789
JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:aqueous humor: RGD PMID:22490043 RGD:7829793 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Kdr kinase insert domain receptor susceptibility ISO DNA:SNP: :rs2071559(human) RGD PMID:22919317 RGD:8549752 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Loxl1 lysyl oxidase-like 1 ISO DNA:SNP:exon:p.R141L (human) RGD PMID:21236409 RGD:7387334 NCBI chr 8:63,067,757...63,092,124
Ensembl chr 8:63,067,300...63,092,009
JBrowse link
G Mapk8 mitogen-activated protein kinase 8 ISO RGD PMID:23341606 RGD:10412675 NCBI chr16:9,620,854...9,709,342
Ensembl chr16:9,625,177...9,709,347
JBrowse link
G Mdm1 Mdm1 nuclear protein ISO DNA, mRNA:nonsense mutation, decreased expression:retina RGD PMID:18805803 RGD:10412062 NCBI chr 7:61,165,652...61,200,865
Ensembl chr 7:61,165,640...61,200,879
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:rs1801133(human) RGD PMID:22065928 RGD:7387224 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO DNA:snp:cds:c.894G>T (rs1799983) (human) RGD PMID:23276910 RGD:7771558 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO protein:increased expression:plasma: RGD PMID:24334449 RGD:10449444 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link