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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 1:96,659,703...96,784,876
Ensembl chr 1:95,386,266...95,514,589
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 chr 1:172,267,658...172,337,130 JBrowse link
G CFHR3 complement factor H related 3 ISO ClinVar Annotator: match by term: Age-related macular degeneration ClinVar PMID:16998489 PMID:17367211 PMID:18006700 PMID:20843825 NCBI chr 1:172,355,204...172,389,914 JBrowse link
G HTRA1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-1894G>A (rs3793917) (human) RGD PMID:22618592 RGD:7394695 NCBI chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733
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 chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
G CFHR1 complement factor H related 1 ISO OMIM NCBI chr 1:172,267,658...172,337,130 JBrowse link
G CFHR3 complement factor H related 3 ISO OMIM NCBI chr 1:172,355,204...172,389,914 JBrowse link
G HMCN1 hemicentin 1 ISO OMIM NCBI chr 1:161,254,948...161,717,526
Ensembl chr 1:165,522,384...165,869,148
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 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711
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 OMIM NCBI chr20:23,583,043...23,587,399
Ensembl chr20:23,935,942...23,940,425
JBrowse link
age related macular degeneration 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CX3CR1 C-X3-C motif chemokine receptor 1 ISO OMIM NCBI chr 3:39,158,346...39,176,604
Ensembl chr 3:39,440,955...39,457,219
JBrowse link
age related macular degeneration 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFI complement factor I susceptibility ISO ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:20203157 PMID:20513133 PMID:23685748 PMID:25986072 NCBI chr 4:102,236,868...102,311,359
Ensembl chr 4:112,804,645...112,865,581
JBrowse link
age related macular degeneration 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2 complement C2 ISO OMIM NCBI chr 6:31,590,135...31,606,368 JBrowse link
G CFB complement factor B ISO OMIM NCBI chr 6:31,606,716...31,612,782 JBrowse link
age related macular degeneration 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C9 complement C9 susceptibility ISO ClinVar Annotator: match by term: Macular degeneration, age-related, 15
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:24036952 NCBI chr 5:71,011,961...71,090,243
Ensembl chr 5:76,051,911...76,130,725
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 OMIM NCBI chr 1:96,659,703...96,784,876
Ensembl chr 1:95,386,266...95,514,589
JBrowse link
Age Related Macular Degeneration 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBLN5 fibulin 5 ISO OMIM NCBI chr14:72,504,240...72,583,160
Ensembl chr14:91,848,430...91,927,304
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 OMIM NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521
JBrowse link
age related macular degeneration 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERCC6 ERCC excision repair 6, chromatin remodeling factor susceptibility ISO ClinVar Annotator: match by term: Age-related macular degeneration 5
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9443879 PMID:10767341 PMID:16754848 PMID:17854076 PMID:18414213 PMID:19894250 PMID:22661500 PMID:22904069 PMID:23422418 PMID:25136123 PMID:25741868 PMID:25820262 PMID:28492532 NCBI chr10:44,703,720...44,784,948 JBrowse link
age related macular degeneration 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAX2 retina and anterior neural fold homeobox 2 ISO OMIM NCBI chr19:2,791,905...2,796,357
Ensembl chr19:3,743,003...3,744,064
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 chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
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 chr 6:31,606,716...31,612,782 JBrowse link
G HTRA1 HtrA serine peptidase 1 susceptibility
severity
ISO DNA:polymorphisms:multiple (human)
DNA:snp:promoter:g.-497C>T (rs2672598) (human)
DNA:snps:promoter, exons:g.-497C>T, g.+108G>T/C, g.5230C>T (rs2672598, rs2293870, rs1049331) (human)
DNA:snp:intron:g.IVS1+9824G>A (rs932275) (human)
OMIM
RGD
PMID:18207215 PMID:18436811 PMID:19796758 PMID:19933195 RGD:7394713 RGD:7394719 RGD:7394721 RGD:7394722 NCBI chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733
JBrowse link
age related macular degeneration 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARMS2 age-related maculopathy susceptibility 2 ISO OMIM NCBI chr10:119,022,726...119,026,201
Ensembl chr10:122,434,856...122,437,551
JBrowse link
age related macular degeneration 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO OMIM NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
JBrowse link
Alstrom syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALMS1 ALMS1 centrosome and basal body associated protein susceptibility ISO DNA:frameshift mutations, nonsense mutations OMIM
RGD
PMID:11941369 RGD:1601169 NCBI chr2A:73,438,657...73,671,313
Ensembl chr2A:74,926,650...75,152,139
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 chr2A:102,503,084...102,553,029
Ensembl chr2A:97,682,724...97,731,584
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 DNA:point_mutation:CDS:amino acid N247S RGD PMID:10802664 RGD:1600335 NCBI chr12:88,583,919...88,591,418
Ensembl chr12:91,899,381...91,911,615
JBrowse link
autosomal dominant vitreoretinochoroidopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BEST1 bestrophin 1 ISO OMIM NCBI chr11:57,314,430...57,329,450
Ensembl chr11:60,672,835...60,687,417
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 chr11:57,329,163...57,332,248 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 OMIM NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521
JBrowse link
bestrophinopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BEST1 bestrophin 1 ISO OMIM NCBI chr11:57,314,430...57,329,450
Ensembl chr11:60,672,835...60,687,417
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 chr 1:172,794,523...173,076,045
Ensembl chr 1:177,174,431...177,422,867
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 6:42,284,818...42,316,150
Ensembl chr 6:43,582,317...43,608,011
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 1:96,659,703...96,784,876
Ensembl chr 1:95,386,266...95,514,589
JBrowse link
G CYP4V2 cytochrome P450 family 4 subfamily V member 2 ISO OMIM NCBI chr 4:178,361,611...178,384,381
Ensembl chr 4:190,568,743...190,588,025
JBrowse link
Bothnia retinal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RLBP1 retinaldehyde binding protein 1 ISO OMIM NCBI chr15:67,901,276...67,913,911
Ensembl chr15:87,108,815...87,117,971
JBrowse link
Boucher-Neuhauser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPLA6 patatin like phospholipase domain containing 6 ISO OMIM NCBI chr19:6,825,299...6,852,900
Ensembl chr19:7,683,789...7,710,241
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 OMIM NCBI chr 6:42,284,818...42,316,150
Ensembl chr 6:43,582,317...43,608,011
JBrowse link
choroidal sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EYS eyes shut homolog ISO ClinVar Annotator: match by term: Choroidal dystrophy central areolar ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 6:61,424,943...62,195,228 JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO OMIM NCBI chr17:8,037,301...8,051,478
Ensembl chr17:8,023,519...8,036,065
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)
RGD
ClinVar
PMID:8644804 PMID:16832026 PMID:25741868 RGD:8553207 RGD:8554858 NCBI chr 6:42,284,818...42,316,150
Ensembl chr 6:43,582,317...43,608,011
JBrowse link
G TTLL5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Choroidal dystrophy central areolar ClinVar PMID:25741868 NCBI chr14:56,216,214...56,513,718
Ensembl chr14:75,058,897...75,356,494
JBrowse link
Choroideremia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHM CHM Rab escort protein ISO OMIM NCBI chr  X:74,928,576...75,115,733
Ensembl chr  X:85,038,154...85,224,761
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 6:42,284,818...42,316,150
Ensembl chr 6:43,582,317...43,608,011
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:39,274,103...39,319,832
Ensembl chr  X:47,133,639...47,178,608
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
RGD
ClinVar
PMID:10090887 PMID:10958763 PMID:15614537 PMID:18024811 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 RGD:7829711 NCBI chr 1:96,659,703...96,784,876
Ensembl chr 1:95,386,266...95,514,589
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 chr19:44,828,119...44,856,284 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:90,600,412...90,610,594
Ensembl chr  X:100,732,311...100,742,280
JBrowse link
Cone Dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE6C phosphodiesterase 6C ISO OMIM NCBI chr10:90,361,003...90,414,169
Ensembl chr10:93,871,704...93,924,654
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, Dominant
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-rod degeneration
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive
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 1:96,659,703...96,784,876
Ensembl chr 1:95,386,266...95,514,589
JBrowse link
G ACBD5 acyl-CoA binding domain containing 5 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:28492532 NCBI chr10:27,292,094...27,351,332
Ensembl chr10:27,666,395...27,711,423
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 chr 8:38,298,194...38,406,706
Ensembl chr 8:35,473,278...35,581,192
JBrowse link
G BEST1 bestrophin 1 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 NCBI chr11:57,314,430...57,329,450
Ensembl chr11:60,672,835...60,687,417
JBrowse link
G C12H12orf29 chromosome 12 C12orf29 homolog ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:30193310 NCBI chr12:85,576,750...85,591,510
Ensembl chr12:88,878,836...88,897,291
JBrowse link
G C8H8orf37 chromosome 8 C8orf37 homolog ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar NCBI chr 8:91,862,207...91,887,127
Ensembl chr 8:94,062,122...94,086,565
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 chr11:62,813,477...62,820,425
Ensembl chr11:66,121,992...66,128,758
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:41,504,804...41,533,501
Ensembl chr  X:49,356,994...49,385,678
JBrowse link
G CDHR1 cadherin related family member 1 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive
ClinVar Annotator: match by term: Cone-rod degeneration
ClinVar PMID:23591405 PMID:24033266 PMID:25741868 PMID:27353947 PMID:28224992 PMID:28492532 PMID:28765526 PMID:28885867 PMID:30718709 PMID:33546218 NCBI chr10:80,610,079...80,632,084
Ensembl chr10:84,179,704...84,204,747
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 chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044
JBrowse link
G CEP78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr 9:46,576,161...46,612,342
Ensembl chr 9:77,086,877...77,121,459
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 chr2B:68,800,462...68,921,793 JBrowse link
G CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868
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 chr 4:74,196,877...74,213,563
Ensembl chr 4:84,910,653...84,945,248
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 chr2A:100,911,053...100,962,278
Ensembl chr2A:99,259,808...99,308,517
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 8:83,269,589...83,439,999
Ensembl chr 8:85,238,043...85,407,059
JBrowse link
G CRB1 crumbs cell polarity complex component 1 ISO DNA:missense mutation:cds:p.C27F(c.80G¿¿¿>¿¿¿T)(human)
ClinVar Annotator: match by term: Cone-rod dystrophy
RGD
ClinVar
PMID:23767994 PMID:25741868 RGD:13451130 NCBI chr 1:172,794,523...173,076,045
Ensembl chr 1:177,174,431...177,422,867
JBrowse link
G CRX cone-rod homeobox ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar PMID:30718709 NCBI chr19:44,828,119...44,856,284 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 chr2A:61,907,508...61,936,530
Ensembl chr2A:63,041,759...63,070,172
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 6:41,693,593...41,774,591
Ensembl chr 6:43,045,307...43,070,520
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 chr17:8,037,301...8,051,478
Ensembl chr17:8,023,519...8,036,065
JBrowse link
G ITGA4 integrin subunit alpha 4 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:25741868 NCBI chr2B:68,719,376...68,802,488
Ensembl chr2B:186,530,187...186,612,203
JBrowse link
G LRAT lecithin retinol acyltransferase ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 NCBI chr 4:147,110,568...147,119,706
Ensembl chr 4:158,928,607...158,937,747
JBrowse link
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr 1:8,712,798...8,753,027
Ensembl chr 1:9,942,491...9,982,364
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 chr15:50,759,707...50,767,703
Ensembl chr15:69,525,351...69,533,034
JBrowse link
G PANK2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar NCBI chr20:3,924,054...3,959,393
Ensembl chr20:3,723,211...3,757,748
JBrowse link
G PDE6C phosphodiesterase 6C ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar NCBI chr10:90,361,003...90,414,169
Ensembl chr10:93,871,704...93,924,654
JBrowse link
G PITPNM3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant ClinVar PMID:28492532 NCBI chr17:6,492,567...6,595,645
Ensembl chr17:6,481,590...6,584,379
JBrowse link
G POC1B POC1 centriolar protein B ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr12:86,946,987...87,053,789
Ensembl chr12:90,267,217...90,373,682
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 chr 4:10,405,299...10,519,518
Ensembl chr 4:15,702,159...15,815,454
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, Recessive
ClinVar Annotator: match by term: Cone Rod Dystrophy
ClinVar PMID:7493155 PMID:8015786 PMID:8302543 PMID:8485576 PMID:8675410 PMID:8747448 PMID:8994365 PMID:9010868 PMID: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 6:42,284,818...42,316,150
Ensembl chr 6:43,582,317...43,608,011
JBrowse link
G RAB28 RAB28, member RAS oncogene family ISO ClinVar Annotator: match by term: Cone-rod degeneration ClinVar PMID:23746546 NCBI chr 4:7,793,007...7,901,614
Ensembl chr 4:13,093,806...13,202,569
JBrowse link
G RAX2 retina and anterior neural fold homeobox 2 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar NCBI chr19:2,791,905...2,796,357
Ensembl chr19:3,743,003...3,744,064
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 chr14:48,297,854...48,314,502
Ensembl chr14:67,180,696...67,192,345
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 3:126,586,510...126,593,028
Ensembl chr 3:133,938,419...133,944,928
JBrowse link
G RIMS1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant ClinVar PMID:28492532 NCBI chr 6:69,714,807...70,231,260
Ensembl chr 6:73,008,176...73,523,422
JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar NCBI chr 1:67,666,784...67,687,891
Ensembl chr 1:69,623,775...69,644,904
JBrowse link
G RPGR retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:30718709 NCBI chr  X:30,718,669...30,777,671 JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive
ClinVar Annotator: match by term: Cone-rod degeneration
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar PMID:25741868 NCBI chr14:2,105,703...2,169,362
Ensembl chr14:20,185,236...20,247,064
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 chr15:55,263,970...55,830,877
Ensembl chr15:74,855,612...75,377,042
JBrowse link
G SEMA4A semaphorin 4A ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar NCBI chr 1:131,489,446...131,519,864
Ensembl chr 1:135,321,288...135,350,724
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 chr2A:103,010,083...103,040,958
Ensembl chr2A:97,197,137...97,228,511
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 9:49,949,883...50,114,169
Ensembl chr 9:73,576,594...73,742,195
JBrowse link
G TTLL5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr14:56,216,214...56,513,718
Ensembl chr14:75,058,897...75,356,494
JBrowse link
G UNC119 unc-119 lipid binding chaperone ISO ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
ClinVar PMID:11006213 PMID:22184408 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:28,223,428...28,229,361 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 chr 1:191,193,130...191,994,664
Ensembl chr 1:196,048,086...196,850,216
JBrowse link
cone-rod dystrophy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SEMA4A semaphorin 4A ISO OMIM NCBI chr 1:131,489,446...131,519,864
Ensembl chr 1:135,321,288...135,350,724
JBrowse link
cone-rod dystrophy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAX2 retina and anterior neural fold homeobox 2 ISO OMIM NCBI chr19:2,791,905...2,796,357
Ensembl chr19:3,743,003...3,744,064
JBrowse link
cone-rod dystrophy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PROM1 prominin 1 ISO OMIM NCBI chr 4:10,405,299...10,519,518
Ensembl chr 4:15,702,159...15,815,454
JBrowse link
cone-rod dystrophy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPGRIP1 RPGR interacting protein 1 ISO OMIM NCBI chr14:2,105,703...2,169,362
Ensembl chr14:20,185,236...20,247,064
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-ROD DYSTROPHY 14
ClinVar Annotator: match by term: Cone dystrophy 3
ClinVar PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr12:1,906,894...2,030,991
Ensembl chr12:1,857,221...1,980,769
JBrowse link
G GUCA1A guanylate cyclase activator 1A ISO OMIM NCBI chr 6:41,693,593...41,774,591
Ensembl chr 6:43,045,307...43,070,520
JBrowse link
G GUCA1ANB GUCA1A neighbor ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar NCBI chr 6:41,743,396...41,751,883
Ensembl chr 6:43,045,307...43,053,377
JBrowse link
G GUCA1B guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 14
ClinVar Annotator: match by term: Cone dystrophy 3
ClinVar PMID:15505030 PMID:25741868 PMID:28492532 NCBI chr 6:41,771,537...41,783,364
Ensembl chr 6:43,072,469...43,083,838
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 9:2,523,388...2,537,945
Ensembl chr 9:2,717,407...2,729,494
JBrowse link
G PDE6H phosphodiesterase 6H ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar NCBI chr12:14,890,192...14,984,542
Ensembl chr12:15,372,413...15,381,249
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 3:126,586,510...126,593,028
Ensembl chr 3:133,938,419...133,944,928
JBrowse link
cone-rod dystrophy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDHR1 cadherin related family member 1 ISO OMIM NCBI chr10:80,610,079...80,632,084
Ensembl chr10:84,179,704...84,204,747
JBrowse link
cone-rod dystrophy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C8H8orf37 chromosome 8 C8orf37 homolog ISO OMIM NCBI chr 8:91,862,207...91,887,127
Ensembl chr 8:94,062,122...94,086,565
JBrowse link
cone-rod dystrophy 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAB28 RAB28, member RAS oncogene family ISO OMIM NCBI chr 4:7,793,007...7,901,614
Ensembl chr 4:13,093,806...13,202,569
JBrowse link
cone-rod dystrophy 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TTLL5 tubulin tyrosine ligase like 5 ISO OMIM NCBI chr14:56,216,214...56,513,718
Ensembl chr14:75,058,897...75,356,494
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 chr17:6,463,812...6,473,636
Ensembl chr17:6,450,420...6,461,868
JBrowse link
G CRX cone-rod homeobox ISO OMIM NCBI chr19:44,828,119...44,856,284 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 chr 4:10,405,299...10,519,518
Ensembl chr 4:15,702,159...15,815,454
JBrowse link
cone-rod dystrophy 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POC1B POC1 centriolar protein B ISO OMIM NCBI chr12:86,946,987...87,053,789
Ensembl chr12:90,267,217...90,373,682
JBrowse link
Cone-Rod Dystrophy 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DRAM2 DNA damage regulated autophagy modulator 2 ISO OMIM NCBI chr 1:113,763,013...113,786,070
Ensembl chr 1:126,569,722...126,583,883
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 OMIM NCBI chr 1:96,659,703...96,784,876
Ensembl chr 1:95,386,266...95,514,589
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 chr17:6,482,837...6,489,480
Ensembl chr17:6,471,520...6,478,156
JBrowse link
G PITPNM3 PITPNM family member 3 ISO OMIM NCBI chr17:6,492,567...6,595,645
Ensembl chr17:6,481,590...6,584,379
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 chr17:43,569,858...43,588,039
Ensembl chr17:48,302,450...48,317,029
JBrowse link
G ALOX15B arachidonate 15-lipoxygenase type B ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr17:43,609,146...43,619,713
Ensembl chr17:48,340,777...48,350,808
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr17:43,539,657...43,562,433
Ensembl chr17:48,271,226...48,293,941
JBrowse link
G BEST1 bestrophin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar NCBI chr11:57,314,430...57,329,450
Ensembl chr11:60,672,835...60,687,417
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 chr17:7,967,297...7,983,743
Ensembl chr17:7,953,660...7,970,148
JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO OMIM NCBI chr17:8,037,301...8,051,478
Ensembl chr17:8,023,519...8,036,065
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 9:2,523,388...2,537,945
Ensembl chr 9:2,717,407...2,729,494
JBrowse link
cone-rod dystrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RIMS1 regulating synaptic membrane exocytosis 1 ISO OMIM NCBI chr 6:69,714,807...70,231,260
Ensembl chr 6:73,008,176...73,523,422
JBrowse link
cone-rod dystrophy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAM9 ADAM metallopeptidase domain 9 ISO OMIM NCBI chr 8:38,298,194...38,406,706
Ensembl chr 8:35,473,278...35,581,192
JBrowse link
G TM2D2 TM2 domain containing 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 9 ClinVar NCBI chr 8:38,290,204...38,297,903
Ensembl chr 8:35,466,949...35,472,985
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 OMIM NCBI chr 9:46,576,161...46,612,342
Ensembl chr 9:77,086,877...77,121,459
JBrowse link
Cone-Rod Dystrophy and Hearing Loss 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEP250 centrosomal protein 250 ISO OMIM NCBI chr20:31,782,894...31,847,152
Ensembl chr20:32,903,536...32,959,714
JBrowse link
CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RIMS2 regulating synaptic membrane exocytosis 2 ISO OMIM NCBI chr 8:100,156,403...100,894,128 JBrowse link
congenital hypotrichosis with juvenile macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH3 cadherin 3 ISO OMIM NCBI chr16:49,015,115...49,071,903
Ensembl chr16:68,407,625...68,465,287
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 8:95,659,443...96,525,316
Ensembl chr 8:97,860,720...98,698,271
JBrowse link
degenerative myopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility ISO DNA:polymorphisms:cds:multiple (human) RGD PMID:10887689 PMID:11864433 RGD:7421542 RGD:7483572 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272
JBrowse link
Doyne honeycomb retinal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 ISO OMIM NCBI chr2A:56,017,678...56,076,059
Ensembl chr2A:57,155,000...57,212,500
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 6:42,284,818...42,316,150
Ensembl chr 6:43,582,317...43,608,011
JBrowse link
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH3 cadherin 3 ISO OMIM NCBI chr16:49,015,115...49,071,903
Ensembl chr16:68,407,625...68,465,287
JBrowse link
enhanced S-cone syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NR2E3 nuclear receptor subfamily 2 group E member 3 ISO OMIM NCBI chr15:50,759,707...50,767,703
Ensembl chr15:69,525,351...69,533,034
JBrowse link
G NRL neural retina leucine zipper ISO ClinVar Annotator: match by term: Enhanced s-cone syndrome ClinVar PMID:27732723 NCBI chr14:4,858,105...4,891,207
Ensembl chr14:22,982,367...22,998,187
JBrowse link
G PRPH2 peripherin 2 ISO RGD PMID:23650562 RGD:8554862 NCBI chr 6:42,284,818...42,316,150
Ensembl chr 6:43,582,317...43,608,011
JBrowse link
fundus albipunctatus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRPH2 peripherin 2 ISO OMIM NCBI chr 6:42,284,818...42,316,150
Ensembl chr 6:43,582,317...43,608,011
JBrowse link
G RDH5 retinol dehydrogenase 5 ISO OMIM NCBI chr12:33,186,871...33,191,539
Ensembl chr12:33,911,309...33,920,506
JBrowse link
G RHO rhodopsin ISO OMIM NCBI chr 3:126,586,510...126,593,028
Ensembl chr 3:133,938,419...133,944,928
JBrowse link
G RLBP1 retinaldehyde binding protein 1 ISO OMIM NCBI chr15:67,901,276...67,913,911
Ensembl chr15:87,108,815...87,117,971
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
RGD
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 RGD:7829713 NCBI chr 1:96,659,703...96,784,876
Ensembl chr 1:95,386,266...95,514,589
JBrowse link
G ABHD12 abhydrolase domain containing 12, lysophospholipase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:22938382 PMID:28041643 NCBI chr20:25,239,710...25,335,941
Ensembl chr20:25,645,046...25,740,943
JBrowse link
G ACO2 aconitase 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr22:22,363,178...22,423,041
Ensembl chr22:40,450,276...40,510,200
JBrowse link
G ADGRA3 adhesion G protein-coupled receptor A3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 4:16,796,139...16,924,710
Ensembl chr 4:22,088,243...22,215,929
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 5:24,208,844...24,811,284
Ensembl chr 5:24,341,808...24,945,477
JBrowse link
G AGBL5 AGBL carboxypeptidase 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr2A:27,050,510...27,069,661
Ensembl chr2A:27,139,729...27,158,538
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 6:133,055,026...133,273,591
Ensembl chr 6:137,156,237...137,361,232
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 chr17:6,463,812...6,473,636
Ensembl chr17:6,450,420...6,461,868
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 chr2A:73,438,657...73,671,313
Ensembl chr2A:74,926,650...75,152,139
JBrowse link
G ARL2BP ADP ribosylation factor like GTPase 2 binding protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28041643 NCBI chr16:37,520,140...37,528,634
Ensembl chr16:56,653,742...56,661,404
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 chr11:61,868,257...61,892,473 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 chr12:73,862,775...73,867,377
Ensembl chr12:76,713,028...76,716,956
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 4:114,914,052...114,926,300
Ensembl chr 4:126,067,897...126,070,029
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 chr16:36,756,699...36,807,652
Ensembl chr16:55,902,945...55,940,053
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 chr15:51,601,526...51,656,460
Ensembl chr15:70,362,261...70,416,964
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 chr2B:56,751,129...56,776,637
Ensembl chr2B:174,220,825...174,245,820
JBrowse link
G BBS7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 4:114,024,949...114,072,000
Ensembl chr 4:125,161,804...125,208,350
JBrowse link
G BBS9 Bardet-Biedl syndrome 9 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:20177705 PMID:28492532 NCBI chr 7:33,723,923...34,210,408
Ensembl chr 7:34,141,841...34,603,231
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 chr11:57,314,430...57,329,450
Ensembl chr11:60,672,835...60,687,417
JBrowse link
G C10H10orf105 chromosome 10 C10orf105 homolog ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24033266 PMID:28492532 NCBI chr10:68,182,453...68,190,718 JBrowse link
G C12H12orf29 chromosome 12 C12orf29 homolog ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr12:85,576,750...85,591,510
Ensembl chr12:88,878,836...88,897,291
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 chr11:114,179,998...114,187,761
Ensembl chr11:118,107,706...118,108,774
JBrowse link
G C8H8orf37 chromosome 8 C8orf37 homolog ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 8:91,862,207...91,887,127
Ensembl chr 8:94,062,122...94,086,565
JBrowse link
G CA4 carbonic anhydrase 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:30718709 NCBI chr17:54,236,114...54,258,638 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 chr11:62,813,477...62,820,425
Ensembl chr11:66,121,992...66,128,758
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:41,504,804...41,533,501
Ensembl chr  X:49,356,994...49,385,678
JBrowse link
G CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr12:1,906,894...2,030,991
Ensembl chr12:1,857,221...1,980,769
JBrowse link
G CAPN5 calpain 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr11:72,118,036...72,174,920
Ensembl chr11:75,778,879...75,817,827
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 chr 4:9,904,237...10,047,440
Ensembl chr 4:15,204,326...15,349,281
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 chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240
JBrowse link
G CDH3 cadherin 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr16:49,015,115...49,071,903
Ensembl chr16:68,407,625...68,465,287
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 chr10:80,610,079...80,632,084
Ensembl chr10:84,179,704...84,204,747
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:11,047,357...11,261,172
Ensembl chr  X:18,492,329...18,638,735
JBrowse link
G CEP164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr11:112,157,774...112,249,004
Ensembl chr11:116,106,847...116,180,516
JBrowse link
G CEP250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28005958 PMID:28492532 NCBI chr20:31,782,894...31,847,152
Ensembl chr20:32,903,536...32,959,714
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 chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044
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 9:46,576,161...46,612,342
Ensembl chr 9:77,086,877...77,121,459
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 chr2B:68,800,462...68,921,793 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 chr21:30,585,802...30,595,981
Ensembl chr21:43,881,219...43,889,891
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:74,928,576...75,115,733
Ensembl chr  X:85,038,154...85,224,761
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
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 3:147,954,124...148,000,895
Ensembl chr 3:155,526,011...155,573,684
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 chr 4:74,196,877...74,213,563
Ensembl chr 4:84,910,653...84,945,248
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 chr2A:100,911,053...100,962,278
Ensembl chr2A:99,259,808...99,308,517
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 chr16:38,160,056...38,249,474
Ensembl chr16:57,292,093...57,375,460
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 8:83,269,589...83,439,999
Ensembl chr 8:85,238,043...85,407,059
JBrowse link
G CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr2A:102,503,084...102,553,029
Ensembl chr2A:97,682,724...97,731,584
JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 6:32,734,950...32,765,837
Ensembl chr 6:33,849,885...33,879,635
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 chr21:31,720,358...31,834,470 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 chr12:40,726,137...40,757,690 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 chr 1:172,794,523...173,076,045
Ensembl chr 1:177,174,431...177,422,867
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 chr19:44,828,119...44,856,284 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 chr 5:134,134,944...134,313,239
Ensembl chr 5:140,261,883...140,438,547
JBrowse link
G CWC27 CWC27 spliceosome associated cyclophilin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 5:48,984,546...49,235,398
Ensembl chr 5:50,635,204...50,879,742
JBrowse link
G CYGB cytoglobin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:20507925 PMID:25741868 NCBI chr17:70,475,651...70,485,987
Ensembl chr17:76,167,947...76,179,412
JBrowse link
G CYP4V2 cytochrome P450 family 4 subfamily V member 2 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 chr 4:178,361,611...178,384,381
Ensembl chr 4:190,568,743...190,588,025
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 1:113,763,013...113,786,070
Ensembl chr 1:126,569,722...126,583,883
JBrowse link
G DTHD1 death domain containing 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 4:30,598,434...30,664,305
Ensembl chr 4:36,460,507...36,522,524
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 chr2A:56,017,678...56,076,059
Ensembl chr2A:57,155,000...57,212,500
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 6:77,798,058...77,830,840
Ensembl chr 6:81,068,882...81,102,050
JBrowse link
G EYS eyes shut homolog ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16199547 PMID:18836446 PMID:18976725 PMID:20237254 PMID:20333770 PMID:20537394 PMID:21069908 PMID:21217109 PMID:21519034 PMID:22164218 PMID:22302105 PMID:22363543 PMID:23105016 PMID:23591405 PMID:23757202 PMID:24033266 PMID:24265693 PMID:24474277 PMID:24618324 PMID:24652164 PMID:24670872 PMID:24938718 PMID:25097241 PMID:25268133 PMID:25324289 PMID:25356976 PMID:25366773 PMID:25412400 PMID:25491159 PMID:25692139 PMID:25741868 PMID:25753737 PMID:26103963 PMID:26161267 PMID:26261414 PMID:26667666 PMID:26806561 PMID:26872967 PMID:27208204 PMID:27353947 PMID:27375351 PMID:27658286 PMID:28041643 PMID:28492532 PMID:28704921 PMID:29159838 PMID:29550188 PMID:29625443 PMID:29785639 PMID:30153090 PMID:30718709 PMID:31054281 PMID:31872526 NCBI chr 6:61,424,943...62,195,228 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 chr2A:61,907,508...61,936,530
Ensembl chr2A:63,041,759...63,070,172
JBrowse link
G FBLN5 fibulin 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr14:72,504,240...72,583,160
Ensembl chr14:91,848,430...91,927,304
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 chr 1:188,425,697...188,466,721
Ensembl chr 1:193,284,158...193,320,554
JBrowse link
G FRMD7 FERM domain containing 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr  X:121,208,961...121,259,708
Ensembl chr  X:131,516,484...131,567,394
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 chr11:81,973,680...82,007,733
Ensembl chr11:85,611,989...85,616,065
JBrowse link
G GATAD1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 7:84,445,039...84,456,781 JBrowse link
G GIGYF2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr2B:119,929,004...120,090,367
Ensembl chr2B:238,847,674...239,007,549
JBrowse link
G GNAT1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 3:50,119,267...50,126,131
Ensembl chr 3:51,354,472...51,360,568
JBrowse link
G GNAT2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 1:111,980,855...111,990,686
Ensembl chr 1:111,208,510...111,225,808
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 chr17:18,928,680...18,949,014
Ensembl chr17:19,244,393...19,262,707
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 chr 5:174,142,754...174,156,294
Ensembl chr 5:181,434,031...181,447,341
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 6:41,693,593...41,774,591
Ensembl chr 6:43,045,307...43,070,520
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 chr17:8,037,301...8,051,478
Ensembl chr17:8,023,519...8,036,065
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 5:136,038,575...136,056,400
Ensembl chr 5:142,154,552...142,172,371
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 chr 8:42,388,406...42,448,466 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 chr10:65,786,940...65,870,204
Ensembl chr10:68,289,288...68,401,045
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 chr16:130,150...232,369
Ensembl chr16:1,566,824...1,658,884
JBrowse link
G IFT172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 PMID:28559085 NCBI chr2A:27,448,139...27,492,302
Ensembl chr2A:27,536,534...27,580,406
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 7:120,382,719...120,400,417
Ensembl chr 7:133,036,328...133,053,580
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 6:73,765,927...73,892,918
Ensembl chr 6:77,055,866...77,211,813
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 chr 3:98,325,379...98,418,344
Ensembl chr 3:105,005,553...105,097,902
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 9:107,502,838...107,516,325
Ensembl chr 9:136,483,144...136,492,731
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 chr 3:118,871,589...118,936,591
Ensembl chr 3:125,779,453...125,844,242
JBrowse link
G ITGA4 integrin subunit alpha 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr2B:68,719,376...68,802,488
Ensembl chr2B:186,530,187...186,612,203
JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr20:10,582,234...10,618,507
Ensembl chr20:10,582,094...10,618,383
JBrowse link
G KCNJ13 potassium inwardly rectifying channel subfamily J member 13 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr2B:119,997,643...120,009,927
Ensembl chr2B:238,916,083...238,926,178
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 9:2,523,388...2,537,945
Ensembl chr 9:2,717,407...2,729,494
JBrowse link
G KIAA0586 KIAA0586 ortholog ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24033266 PMID:25741868 PMID:26026149 PMID:26096313 PMID:26386044 PMID:26386247 PMID:26437029 PMID:28125082 PMID:28492532 PMID:29068549 PMID:30120217 PMID:32581362 NCBI chr14:39,019,518...39,139,460
Ensembl chr14:57,288,938...57,405,726
JBrowse link
G KIF11 kinesin family member 11 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 PMID:30452590 NCBI chr10:89,339,254...89,401,188
Ensembl chr10:92,852,786...92,914,440
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 chr20:21,083,709...21,204,456
Ensembl chr20:21,045,120...21,165,789
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 7:23,788,760...23,858,965
Ensembl chr 7:23,399,135...23,467,919
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 6:77,366,248...77,418,718
Ensembl chr 6:80,636,181...80,688,609
JBrowse link
G LRAT lecithin retinol acyltransferase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 4:147,110,568...147,119,706
Ensembl chr 4:158,928,607...158,937,747
JBrowse link
G LRP2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28041643 NCBI chr2B:56,407,871...56,640,471
Ensembl chr2B:173,873,767...174,103,697
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 chr11:63,396,511...63,534,471
Ensembl chr11:66,735,246...66,839,817
JBrowse link
G MAK male germ cell associated kinase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:10,604,723...10,679,712
Ensembl chr 6:10,882,745...10,956,579
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 chr2A:89,977,226...90,109,970
Ensembl chr2A:113,056,852...113,162,052
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 chr11:114,179,998...114,187,716
Ensembl chr11:118,107,317...118,115,050
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 4:120,087,477...120,137,550
Ensembl chr 4:131,391,361...131,439,590
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 chr20:10,346,252...10,380,180
Ensembl chr20:10,351,309...10,366,863
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 1:44,802,724...44,811,893
Ensembl chr 1:46,160,364...46,171,662
JBrowse link
G MVK mevalonate kinase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15457465 NCBI chr12:107,150,477...107,173,978
Ensembl chr12:110,544,991...110,568,524
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 chr11:72,187,024...72,265,931
Ensembl chr11:75,834,185...75,907,752
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 1:8,712,798...8,753,027
Ensembl chr 1:9,942,491...9,982,364
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 1:4,620,593...4,756,363
Ensembl chr 1:5,878,739...6,012,864
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 chr15:50,759,707...50,767,703
Ensembl chr15:69,525,351...69,533,034
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 chr14:4,858,105...4,891,207
Ensembl chr14:22,982,367...22,998,187
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:33,899,010...33,928,363 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 chr10:120,955,805...120,977,484
Ensembl chr10:125,224,032...125,245,504
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr  X:6,296,597...6,376,197
Ensembl chr  X:13,611,304...13,664,512
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 chr 3:190,890,242...190,995,133
Ensembl chr 3:201,207,607...201,312,358
JBrowse link
G OTX2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:17541950 PMID:28492532 NCBI chr14:37,370,926...37,381,610
Ensembl chr14:55,641,349...55,651,012
JBrowse link
G PAX2 paired box 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28041643 PMID:28492532 NCBI chr10:97,344,978...97,429,086
Ensembl chr10:100,822,676...100,904,028
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 chr2A:29,069,651...29,082,796
Ensembl chr2A:29,147,730...29,160,296
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 chr10:50,452,290...52,236,538
Ensembl chr10:52,666,969...53,536,611
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 chr 5:145,283,505...145,369,596
Ensembl chr 5:151,294,041...151,375,832
JBrowse link
G PDE6C phosphodiesterase 6C ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr10:90,361,003...90,414,169
Ensembl chr10:93,871,704...93,924,654
JBrowse link
G PDE6G phosphodiesterase 6G ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr17:76,105,827...76,122,750 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 7:84,484,965...84,526,309
Ensembl chr 7:98,081,021...98,122,335
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 6:42,554,509...42,570,701
Ensembl chr 6:43,850,129...43,865,355
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 6:61,321,462...61,400,421
Ensembl chr 6:66,604,032...66,672,571
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 chr10:13,277,804...13,300,115
Ensembl chr10:13,251,223...13,636,018
JBrowse link
G PITPNM3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr17:6,492,567...6,595,645
Ensembl chr17:6,481,590...6,584,379
JBrowse link
G PNPLA6 patatin like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr19:6,825,299...6,852,900
Ensembl chr19:7,683,789...7,710,241
JBrowse link
G POC1B POC1 centriolar protein B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr12:86,946,987...87,053,789
Ensembl chr12:90,267,217...90,373,682
JBrowse link
G PRCD photoreceptor disc component ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:20507925 PMID:25741868 NCBI chr17:70,486,096...70,501,945
Ensembl chr17:76,179,664...76,193,493
JBrowse link
G PRDM13 PR/SET domain 13 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 6:97,447,729...97,456,541
Ensembl chr 6:101,329,818...101,337,368
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 chr 4:10,405,299...10,519,518
Ensembl chr 4:15,702,159...15,815,454
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 1:125,666,604...125,698,591
Ensembl chr 1:129,320,605...129,348,214
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 chr19:51,048,133...51,064,394
Ensembl chr19:59,891,070...59,907,159
JBrowse link
G PRPF4 pre-mRNA processing factor 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 9:84,373,457...84,390,622
Ensembl chr 9:112,745,455...112,763,725
JBrowse link
G PRPF6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25356976 PMID:28492532 Ensembl chr20:61,899,076...61,948,088 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 chr17:1,635,991...1,669,703
Ensembl chr17:1,532,579...1,565,254
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
RGD
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:9690896 PMID:10862101 PMID:11139241 PMID:11297544 PMID:11934323 PMID:12042139 PMID:12566026 PMID:12925772 PMID:15370544 PMID:16024869 PMID:16113362 PMID:16799052 PMID:16885924 PMID:16916875 PMID:17296903 PMID:17504850 PMID:17653047 PMID:19038374 PMID:19243827 PMID:21071739 PMID:22466463 PMID:22863181 PMID:23591405 PMID:23847139 PMID:24608669 PMID:25001182 PMID:25082885 PMID:25097241 PMID:25324289 PMID:25447119 PMID:25675413 PMID:25741868 PMID:26796962 PMID:26842753 PMID:28041643 PMID:28076437 PMID:28492532 PMID:28559085 PMID:28723922 PMID:29555955 PMID:30718709 PMID:30822235 PMID:33546218 RGD:8553224 NCBI chr 6:42,284,818...42,316,150
Ensembl chr 6:43,582,317...43,608,011
JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28967191 NCBI chr  X:96,720,988...96,743,594
Ensembl chr  X:107,094,898...107,117,117
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 chr11:81,855,594...81,866,321 JBrowse link
G RAB28 RAB28, member RAS oncogene family ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 4:7,793,007...7,901,614
Ensembl chr 4:13,093,806...13,202,569
JBrowse link
G RAX2 retina and anterior neural fold homeobox 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25789692 PMID:28492532 PMID:30377383 NCBI chr19:2,791,905...2,796,357
Ensembl chr19:3,743,003...3,744,064
JBrowse link
G RBP3 retinol binding protein 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:26872967 PMID:28492532 NCBI chr10:46,543,196...46,558,978 JBrowse link
G RDH12 retinol dehydrogenase 12 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinal dystrophy
CTD
ClinVar
PMID:15258582 PMID:15322982 PMID:16269441 PMID:17389517 PMID:17512964 PMID:17964524 PMID:18048336 PMID:18779497 PMID:19140180 PMID:20683928 PMID:22065924 PMID:23661369 PMID:23847139 PMID:23900199 PMID:24265693 PMID:24474277 PMID:25133751 PMID:25741868 PMID:25910913 PMID:26047050 PMID:26103963 PMID:26306921 PMID:26497376 PMID:26667666 PMID:27032803 PMID:27208204 PMID:28041643 PMID:28492532 PMID:28559085 PMID:29186038 PMID:30134391 PMID:32014858 NCBI chr14:48,297,854...48,314,502
Ensembl chr14:67,180,696...67,192,345
JBrowse link
G RDH5 retinol dehydrogenase 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr12:33,186,871...33,191,539
Ensembl chr12:33,911,309...33,920,506
JBrowse link
G REEP6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar Ensembl chr19:1,467,186...1,473,988 JBrowse link
G RGR retinal G protein coupled receptor ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10581022 PMID:28041643 NCBI chr10:80,660,589...80,674,636
Ensembl chr10:84,230,385...84,246,475
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 3:126,586,510...126,593,028
Ensembl chr 3:133,938,419...133,944,928
JBrowse link
G RIC3 RIC3 acetylcholine receptor chaperone ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr11:8,210,061...8,287,211
Ensembl chr11:7,969,236...8,032,884
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 6:69,714,807...70,231,260
Ensembl chr 6:73,008,176...73,523,422
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 chr15:67,901,276...67,913,911
Ensembl chr15:87,108,815...87,117,971
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 chr11:57,970,290...57,972,658
Ensembl chr11:61,324,900...61,327,278
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 8:50,979,412...51,311,431
Ensembl chr 8:48,419,033...48,583,879
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 chr 8:8,586,410...8,605,275 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:39,274,103...39,319,832
Ensembl chr  X:47,133,639...47,178,608
JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinal dystrophy
CTD
ClinVar
PMID:9326941 PMID:9501220 PMID:10766140 PMID:10937591 PMID:11095629 PMID:11462243 PMID:11786058 PMID: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 1:67,666,784...67,687,891
Ensembl chr 1:69,623,775...69,644,904
JBrowse link
G RPGR retinitis pigmentosa GTPase regulator ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinal dystrophy
CTD
ClinVar
PMID:9399904 PMID:9855162 PMID:10932196 PMID:10937588 PMID:11754050 PMID:11857109 PMID:11875055 PMID:11992260 PMID:17195164 PMID:23150612 PMID:25741868 PMID:26872967 PMID:28492532 PMID:30718709 PMID:32679846 NCBI chr  X:30,718,669...30,777,671 JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinal dystrophy
CTD
ClinVar
PMID:12920076 PMID:15024725 PMID:25445212 PMID:25741868 PMID:28492532 PMID:28559085 PMID:28714225 PMID:30072743 PMID:30576320 NCBI chr14:2,105,703...2,169,362
Ensembl chr14:20,185,236...20,247,064
JBrowse link
G RPGRIP1L RPGRIP1 like ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr16:33,836,361...33,939,265
Ensembl chr16:52,920,796...53,023,174
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:11,259,222...11,282,289
Ensembl chr  X:18,624,687...18,657,315
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 chr2B:120,532,049...120,574,914
Ensembl chr2B:239,449,910...239,487,537
JBrowse link
G SEMA4A semaphorin 4A ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:26103963 PMID:28492532 NCBI chr 1:131,489,446...131,519,864
Ensembl chr 1:135,321,288...135,350,724
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 chr21:31,836,774...31,883,829
Ensembl chr21:45,090,595...45,134,752
JBrowse link
G SLC24A1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr15:44,552,886...44,597,640
Ensembl chr15:62,831,987...62,882,431
JBrowse link
G SLC7A14 solute carrier family 7 member 14 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 3:167,473,566...167,599,271
Ensembl chr 3:175,662,571...175,728,590
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 chr2A:103,010,083...103,040,958
Ensembl chr2A:97,197,137...97,228,511
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 chr14:69,002,723...69,056,185
Ensembl chr14:88,367,757...88,415,045
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 chr22:13,517,932...14,069,661
Ensembl chr22:31,373,604...31,866,798
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 chr22:13,811,297...13,872,799
Ensembl chr22:31,662,562...31,723,964
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 9:32,314,850...32,327,067
Ensembl chr 9:33,124,730...33,135,129
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 chr15:9,492,500...9,653,644
Ensembl chr15:28,530,878...28,690,947
JBrowse link
G TSPAN12 tetraspanin 12 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr 7:112,790,606...112,861,730
Ensembl chr 7:125,478,472...125,549,091
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 chr2B:53,140,199...53,220,535
Ensembl chr2B:170,616,444...170,699,471
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 chr14:69,446,355...69,502,351
Ensembl chr14:88,802,812...88,857,055
JBrowse link
G TTLL5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24791901 PMID:25741868 NCBI chr14:56,216,214...56,513,718
Ensembl chr14:75,058,897...75,356,494
JBrowse link
G TUB TUB bipartite transcription factor ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr11:8,135,981...8,223,414
Ensembl chr11:7,882,680...7,969,434
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 chr 6:35,058,422...35,073,472
Ensembl chr 6:36,151,747...36,166,160
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 chr11:17,548,501...17,598,923
Ensembl chr11:17,233,854...17,284,256
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 chr 1:191,193,130...191,994,664
Ensembl chr 1:196,048,086...196,850,216
JBrowse link
G VCAN versican ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16043844 PMID:16877430 PMID:21738396 PMID:22739342 NCBI chr 5:31,699,278...31,810,169
Ensembl chr 5:32,019,709...32,130,351
JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:32581362 NCBI chr 8:95,659,443...96,525,316
Ensembl chr 8:97,860,720...98,698,271
JBrowse link
G WDR19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:26489029 PMID:28492532 NCBI chr 4:33,511,283...33,616,946
Ensembl chr 4:39,365,276...39,462,903
JBrowse link
G WHRN whirlin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24033266 PMID:28492532 NCBI chr 9:85,500,222...85,604,417
Ensembl chr 9:113,863,872...113,966,758
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 chr11:61,887,816...61,905,130
Ensembl chr11:65,209,614...65,228,434
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 chr14:48,326,517...48,396,486
Ensembl chr14:67,206,236...67,273,580
JBrowse link
G ZNF408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25882705 PMID:28492532 NCBI chr11:46,651,421...46,656,514
Ensembl chr11:47,209,922...47,215,070
JBrowse link
G ZNF513 zinc finger protein 513 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr2A:27,381,102...27,384,980
Ensembl chr2A:27,469,512...27,473,068
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 chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO protein:increased expression:monocyte RGD PMID:24142887 RGD:8661224 NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
JBrowse link
G HTRA1 HtrA serine peptidase 1 ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human) RGD PMID:17426452 RGD:7394693 NCBI chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733
JBrowse link
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM177A1 family with sequence similarity 177 member A1 ISO ClinVar Annotator: match by term: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY ClinVar PMID:30893644 NCBI chr14:15,794,809...15,832,514 JBrowse link
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma ISO OMIM NCBI chr14:15,834,603...15,871,741
Ensembl chr14:34,020,893...34,056,842
JBrowse link
hereditary spastic paraplegia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZFYVE26 zinc finger FYVE-type containing 26 ISO OMIM NCBI chr14:48,326,517...48,396,486
Ensembl chr14:67,206,236...67,273,580
JBrowse link
High Myopia with Cataract and Vitreoretinal Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P3H2 prolyl 3-hydroxylase 2 ISO OMIM NCBI chr 3:186,976,926...187,141,678
Ensembl chr 3:195,533,511...195,695,598
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 CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.G67D (human)
DNA:frameshift mutation:exon:p.C57X (human)
CTD
RGD
PMID:8317498 PMID:11812423 RGD:8657385 RGD:8657389 NCBI chr12:40,726,137...40,757,690 JBrowse link
G VCAN versican ISO OMIM NCBI chr 5:31,699,278...31,810,169
Ensembl chr 5:32,019,709...32,130,351
JBrowse link
infantile cerebellar-retinal degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACO2 aconitase 2 ISO OMIM NCBI chr22:22,363,178...22,423,041
Ensembl chr22:40,450,276...40,510,200
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 chr22:22,419,887...22,438,539
Ensembl chr22:40,507,026...40,525,927
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCAPER S-phase cyclin A associated protein in the ER ISO OMIM NCBI chr15:55,263,970...55,830,877
Ensembl chr15:74,855,612...75,377,042
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 chr11:114,179,998...114,187,761
Ensembl chr11:118,107,706...118,108,774
JBrowse link
G MFRP membrane frizzled-related protein ISO OMIM NCBI chr11:114,179,998...114,187,716
Ensembl chr11:118,107,317...118,115,050
JBrowse link
Jalili syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO OMIM NCBI chr2A:102,503,084...102,553,029
Ensembl chr2A:97,682,724...97,731,584
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 6:133,055,026...133,273,591
Ensembl chr 6:137,156,237...137,361,232
JBrowse link
G NPHP1 nephrocystin 1 ISO OMIM NCBI chr2A:91,520,612...91,602,187
Ensembl chr2A:111,625,267...111,706,205
JBrowse link
G NPHP4 nephrocystin 4 ISO DNA:mutations:exon, intron:multiple RGD PMID:15776426 RGD:11068164 NCBI chr 1:4,620,593...4,756,363
Ensembl chr 1:5,878,739...6,012,864
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 chr2A:89,273,482...89,284,421
Ensembl chr2A:113,784,854...113,795,801
JBrowse link
G IL1B interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO RGD PMID:23406886 RGD:7241824 NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212
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 chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887
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 4:113,868,218...113,897,243
Ensembl chr 4:125,006,038...125,034,972
JBrowse link
G APOE apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:9512153 PMID:16079201 RGD:7495762 RGD:7775015 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
G C3 complement C3 ISO DNA:SNP: :rs2241394 (human) RGD PMID:22174912 RGD:7401249 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
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 chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO protein:increased expression:monocyte: RGD PMID:22789920 RGD:8661669 NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
JBrowse link
G CFI complement factor I ISO DNA:SNPs: :rs10033900, rs13117504 (human) RGD PMID:23900096 RGD:8662315 NCBI chr 4:102,236,868...102,311,359
Ensembl chr 4:112,804,645...112,865,581
JBrowse link
G CRP C-reactive protein treatment ISO DNA:SNPs: :rs2808635,rs876538(human) RGD PMID:17400294 PMID:19692124 RGD:9491756 RGD:9491775 NCBI chr 1:135,062,102...135,064,402 JBrowse link
G ELN elastin no_association ISO DNA:SNPintron: rs2301995(human) RGD PMID:18326737 PMID:22065928 RGD:7387224 RGD:9585729
G FGD6 FYVE, RhoGEF and PH domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27089177 NCBI chr12:92,669,106...92,809,002
Ensembl chr12:96,065,059...96,203,262
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 susceptibility
treatment
ISO protein:increased expression:vitreous:
DNA:SNP::rs9943922, rs9508034, rs2281827, rs7324510, rs9513115 (human)
RGD PMID:20609706 PMID:22868384 PMID:24812550 RGD:10402108 RGD:10402116 RGD:10402118 NCBI chr13:9,584,850...9,779,542 JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion, haplotype:: (human) RGD PMID:28221473 RGD:12792224 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G GSTP1 glutathione S-transferase pi 1 susceptibility ISO DNA:deletion, haplotype:: (human)
DNA:polymorphism::(rs1695)(human)
RGD PMID:22487578 PMID:28221473 RGD:12792224 RGD:8547932 NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472
JBrowse link
G HTRA1 HtrA serine peptidase 1 susceptibility ISO DNA:silent mutations:exon:g.+102C>T, g.+108G>T/C (rs1049331, rs2293870) (human)
DNA:snp:promoter:g.-625G>A (rs11200638) (human)
RGD PMID:18164066 PMID:22800422 RGD:7387322 RGD:7394724 NCBI chr10:119,030,409...119,083,682
Ensembl chr10:122,441,098...122,494,733
JBrowse link
G IGF1 insulin like growth factor 1 ISO mRNA,protein:increased expression:endothelial cell:
protein:increased expression:aqueous humor of eyeball:
RGD PMID:12714661 PMID:24106111 RGD:10045867 RGD:10045893 NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO mRNA,protein:increased expression:endothelial cell: RGD PMID:12714661 RGD:10045893 NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974
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 chr2B:103,893,724...103,925,318 JBrowse link
G IL6 interleukin 6 ISO protein:increased expression:aqueous humor: RGD PMID:22490043 RGD:7829793 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G KDR kinase insert domain receptor susceptibility ISO DNA:SNP: :rs2071559(human) RGD PMID:22919317 RGD:8549752 NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109
JBrowse link
G LOXL1 lysyl oxidase like 1 ISO DNA:SNP:exon:p.R141L (human) RGD PMID:21236409 RGD:7387334 NCBI chr15:52,835,675...52,861,324 JBrowse link
G MAPK8 mitogen-activated protein kinase 8 ISO RGD PMID:23341606 RGD:10412675 NCBI chr10:45,806,748...45,936,362 JBrowse link
G MDM1 Mdm1 nuclear protein ISO DNA, mRNA:nonsense mutation, decreased expression:retina RGD PMID:18805803 RGD:10412062 NCBI chr12:65,803,548...65,841,404
Ensembl chr12:68,588,541...68,626,326
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:rs1801133(human) RGD PMID:22065928 RGD:7387224 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419
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 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO protein:increased expression:plasma: RGD PMID:24334449 RGD:10449444 NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883
JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO RGD PMID:22773904 RGD:10053644 NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530
JBrowse link
G PON1 paraoxonase 1 susceptibility ISO protein:decreased activity:serum (human)
DNA:missense mutations:cds:p.L55M, p.Q192R (human)
RGD PMID:19155603 PMID:20042177 RGD:8547556 RGD:8547668 NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493
JBrowse link
G SOD2 superoxide dismutase 2 susceptibility ISO DNA:polymorphism:cds:p.V16A(rs4880)(human) RGD PMID:18573360 RGD:8158102 NCBI chr 6:157,562,814...157,610,155
Ensembl chr 6:162,576,082...162,589,960
JBrowse link
G TLR2 toll like receptor 2 ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:23946637 RGD:8552827 NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331
JBrowse link
G TLR3 toll like receptor 3 ISO mRNA:increased expression:peripheral blood mononuclear cell: RGD PMID:23946637 RGD:8552827 NCBI chr 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728
JBrowse link
G VEGFA vascular endothelial growth factor A treatment ISO DNA:SNP: :rs3025000(human)
DNA:SNP: :rs943080(human)
RGD PMID:23149126 PMID:23745581 RGD:7483607 RGD:7483627 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353
JBrowse link
late-onset retinal degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1QTNF5 C1q and TNF related 5 ISO OMIM NCBI chr11:114,179,998...114,187,761
Ensembl chr11:118,107,706...118,108,774
JBrowse link
G CRB1 crumbs cell polarity complex component 1 ISO DNA:missense mutation: :p.C249W (mouse) RGD PMID:17234588 RGD:8552692 NCBI chr 1:172,794,523...173,076,045
Ensembl chr 1:177,174,431...177,422,867
JBrowse link
G MFRP membrane frizzled-related protein ISO ClinVar Annotator: match by term: Late-onset retinal degeneration
ClinVar Annotator: match by term: RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT
ClinVar PMID:12140190 PMID:12944416 PMID:15976030 PMID:18648522 PMID:19169412 PMID:20361016 PMID:22142163 PMID:22892318 PMID:23289492 PMID:24531000 PMID:25097241 PMID:25326637 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29847639 NCBI chr11:114,179,998...114,187,716
Ensembl chr11:118,107,317...118,115,050
JBrowse link
G PLA2G5 phospholipase A2 group V ISO ClinVar Annotator: match by term: Late-onset retinal degeneration ClinVar NCBI chr 1:18,983,104...19,046,834
Ensembl chr 1:20,068,110...20,089,840
JBrowse link
Leber congenital amaurosis 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRAT lecithin retinol acyltransferase ISO OMIM NCBI chr 4:147,110,568...147,119,706
Ensembl chr 4:158,928,607...158,937,747
JBrowse link
Leber congenital amaurosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPATA7 spermatogenesis associated 7 ISO OMIM NCBI chr14:69,002,723...69,056,185
Ensembl chr14:88,367,757...88,415,045
JBrowse link
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 susceptibility ISO ClinVar Annotator: match by term: Macular dystrophy
ClinVar Annotator: match by term: Macular degeneration
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9054934 PMID:9295268 PMID:9466990 PMID:9781034 PMID:9973280 PMID:10090887 PMID:10206579 PMID:10458172 PMID:10634594 PMID:10711710 PMID:10874631 PMID:10880298 PMID:10958763 PMID:11017087 PMID:11328725 PMID:11346402 PMID:11379881 PMID:11527935 PMID:11702214 PMID:11726554 PMID:11857735 PMID:11919200 PMID:12192456 PMID:12515255 PMID:12796258 PMID:14517951 PMID:14971589 PMID:15108289 PMID:15161829 PMID:15192030 PMID:15494742 PMID:15579991 PMID:15614537 PMID:16103129 PMID:16123440 PMID:16303926 PMID:16968212 PMID:17724221 PMID:17982420 PMID:18024811 PMID:18285826 PMID:18854780 PMID:18977788 PMID:19028736 PMID:19074458 PMID:19217903 PMID:19243736 PMID:19365591 PMID:20029649 PMID:20335603 PMID:20696155 PMID:20960624 PMID:20981092 PMID:21786275 PMID:21911583 PMID:22025579 PMID:22229821 PMID:22247458 PMID:22264887 PMID:22312191 PMID:22328824 PMID:22427542 PMID:22449572 PMID:22661472 PMID:22661473 PMID:22735453 PMID:22968130 PMID:22995991 PMID:23096905 PMID:23143460 PMID:23419329 PMID:23443024 PMID:23591405 PMID:23695285 PMID:23755871 PMID:23769331 PMID:23918662 PMID:23940504 PMID:23949494 PMID:23953153 PMID:23982839 PMID:24011517 PMID:24033266 PMID:24097981 PMID:24265693 PMID:24453473 PMID:24509150 PMID:24713488 PMID:25066811 PMID:25082885 PMID:25087612 PMID:25097241 PMID:25283059 PMID:25312043 PMID:25346251 PMID:25356976 PMID:25472526 PMID:25525159 PMID:25640233 PMID:25712131 PMID:25741868 PMID:25910913 PMID:25921964 PMID:26103963 PMID:26229699 PMID:26261413 PMID:26527198 PMID:26593885 PMID:26780318 PMID:26872967 PMID:26976702 PMID:27014590 PMID:27367509 PMID:27535533 PMID:27628848 PMID:27739528 PMID:27775217 PMID:27820952 PMID:27939946 PMID:28041643 PMID:28118664 PMID:28166811 PMID:28181551 PMID:28224992 PMID:28327576 PMID:28430335 PMID:28446513 PMID:28492532 PMID:28559085 PMID:29114839 PMID:29145636 PMID:29162642 PMID:29186038 PMID:29310964 PMID:29461686 PMID:29555955 PMID:29847635 PMID:29925512 PMID:29971439 PMID:30060493 PMID:30093795 PMID:30718709 PMID:31015497 PMID:32307445 PMID:32619608 PMID:33223529 PMID:33546218 PMID:92952680 RGD:1598551 NCBI chr 1:96,659,703...96,784,876
Ensembl chr 1:95,386,266...95,514,589
JBrowse link
G ADIPOR1 adiponectin receptor 1 ISO DNA:SNP:intron:c.-95+191A>G (rs10753929) (human) RGD PMID:22387454 RGD:8694465 NCBI chr 1:178,542,496...178,560,055
Ensembl chr 1:182,837,589...182,854,782
JBrowse link
G APOE apolipoprotein E susceptibility
no_association
ISO DNA:haplotype:cds:
DNA:polymorphism:exon:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10859513 PMID:12567264 PMID:16079201 PMID:16453339 PMID:19384966 RGD:7495761 RGD:7771552 RGD:7771587 RGD:7775015 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490
JBrowse link
G ARMS2 age-related maculopathy susceptibility 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Macular degeneration
CTD
ClinVar
PMID:17884985 PMID:18316707 PMID:18511946 PMID:21909106 PMID:22491416 PMID:26467025 PMID:28492532 NCBI chr10:119,022,726...119,026,201
Ensembl chr10:122,434,856...122,437,551
JBrowse link
G ATF6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:28041643 NCBI chr 1:137,178,629...137,382,256
Ensembl chr 1:140,977,750...141,176,725
JBrowse link
G BAD BCL2 associated agonist of cell death severity ISO protein:increased expression:vitreous humor RGD PMID:22773904 RGD:10053644 NCBI chr11:59,626,981...59,641,824
Ensembl chr11:62,971,808...62,986,257
JBrowse link
G BAX BCL2 associated X, apoptosis regulator ISO RGD PMID:20054800 RGD:10043353 NCBI chr19:45,955,926...45,962,870
Ensembl chr19:54,793,594...54,800,468
JBrowse link
G BEST1 bestrophin 1 ISO Best macular dystrophy, OMIM:153700
ClinVar Annotator: match by term: Macular dystrophy
RGD
ClinVar
PMID:9662395 PMID:10798642 PMID:25741868 PMID:27193166 PMID:28481155 PMID:28492532 PMID:28559085 PMID:29781975 PMID:30718709 PMID:30880907 PMID:33546218 RGD:1599738 NCBI chr11:57,314,430...57,329,450
Ensembl chr11:60,672,835...60,687,417
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO protein:increased expression:bruch's membrane,pigmented layer of retina: RGD PMID:19158083 RGD:8699495 NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752
JBrowse link
G C1QTNF5 C1q and TNF related 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16123441 NCBI chr11:114,179,998...114,187,761
Ensembl chr11:118,107,706...118,108,774
JBrowse link
G C2 complement C2 no_association
susceptibility
ISO DNA:missense mutation:cds:p.E318D (rs9332739) (human)
ClinVar Annotator: match by term: Macular degeneration
DNA:polymorphism
DNA:missense mutation, haplotype:cds:p.E318D (rs9332739) (human)
DNA:SNP:intron:c.1360+62G>T (rs547154) (human)
DNA:missense mutation, snp:cds, intron:p.E318D, c.1360+62G>T (rs9332739, rs547154) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNP, haplotype:intron:c.1360+62G>T (rs547154) (human)
DNA:missense mutation, SNP:cds, intron:p.E318D, c.1360+62G>T (rs9332739, rs547154) (human)
RGD
ClinVar
CTD
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:17576744 PMID:18806293 PMID:19169232 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22232432 PMID:22273503 PMID:22440158 PMID:23112567 PMID:23233260 PMID:24033266 PMID:24652797 PMID:25741868 RGD:1600582 RGD:7411691 RGD:7411692 RGD:7411693 RGD:7411694 RGD:7411713 RGD:7411720 RGD:7411731 NCBI chr 6:31,590,135...31,606,368 JBrowse link
G C3 complement C3 ISO DNA:missense mutation:cds:p.R102G (rs2230199) (human)
ClinVar Annotator: match by term: Macular degeneration
DNA:polymorphism: :p.R102G (human)
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:17767156 PMID:18325906 PMID:20157618 PMID:23747511 PMID:24036949 PMID:24036950 PMID:24036952 PMID:28492532 RGD:7401268 RGD:7411715 RGD:7411723 NCBI chr19:5,708,211...5,753,178
Ensembl chr19:6,629,287...6,674,699
JBrowse link
G C9 complement C9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24036952 NCBI chr 5:71,011,961...71,090,243
Ensembl chr 5:76,051,911...76,130,725
JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:28166811 PMID:28492532 PMID:30718709 NCBI chr  X:41,504,804...41,533,501
Ensembl chr  X:49,356,994...49,385,678
JBrowse link
G CACNG3 calcium voltage-gated channel auxiliary subunit gamma 3 susceptibility ISO DNA:SNPs: : RGD PMID:21169531 RGD:13524556 Ensembl chr16:24,501,881...24,608,921 JBrowse link
G CCL2 C-C motif chemokine ligand 2 severity ISO mRNA,protein:increased expression:retina
protein:increased expression:aqueous humor (human)
RGD PMID:14566334 PMID:17652758 PMID:22172228 PMID:24142887 RGD:8548856 RGD:8549496 RGD:8661224 RGD:9491385 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CCR2 C-C motif chemokine receptor 2 no_association ISO protein:increased expression:plasma: RGD PMID:16857270 PMID:18172114 RGD:7794843 RGD:8657363 NCBI chr 3:46,255,725...46,263,285
Ensembl chr 3:47,361,124...47,368,312
JBrowse link
G CD36 CD36 molecule ISO RGD PMID:18288886 RGD:2307226 NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865
JBrowse link
G CDH3 cadherin 3 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:10420194 PMID:14708629 PMID:15805154 PMID:28041643 NCBI chr16:49,015,115...49,071,903
Ensembl chr16:68,407,625...68,465,287
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A ISO RGD PMID:20054800 RGD:10043353 NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B ISO RGD PMID:20054800 RGD:10043353 NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541
JBrowse link
G CERKL ceramide kinase like ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:25741868 NCBI chr2B:68,800,462...68,921,793 JBrowse link
G CFB complement factor B no_association
susceptibility
ISO DNA:missense mutations:cds:p.L9H, p.R32Q (rs4151667, rs641153) (human)
ClinVar Annotator: match by term: Macular degeneration
DNA:missense mutation:cds:p.R32Q (rs641153) (human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs: :multiple
DNA:snp:intron:c.1169-69T>C (rs541862) (human)
DNA:missense mutation, haplotype:cds:p.L9H (rs4151667) (human)
DNA:missense mutation, SNP:cds, intron:p.R32L, c.*500T>C (rs641153, rs2072633) (human)
RGD
ClinVar
CTD
PMID:2249879 PMID:6308626 PMID:8181962 PMID:16518403 PMID:16936732 PMID:18806293 PMID:19696172 PMID:20108004 PMID:20513133 PMID:21541267 PMID:22232432 PMID:22273503 PMID:22440158 PMID:23112567 PMID:23233260 PMID:23847193 PMID:24033266 PMID:24652797 PMID:25741868 PMID:26054779 RGD:7411691 RGD:7411694 RGD:7411713 RGD:7411714 RGD:7411720 RGD:7411731 NCBI chr 6:31,606,716...31,612,782 JBrowse link
G CFH complement factor H disease_progression
susceptibility
no_association
ISO DNA:SNP: :rs800292(human)
ClinVar Annotator: match by term: Macular degeneration
DNA:SNP:cds:p.Y402H(human)
DNA:SNP: :rs1410996(human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs,Haplotype::
DNA:SNP: :rs1061170 (Y402H)(human)
DNA:SNP: :rs1061170(human)
RGD
ClinVar
CTD
PMID:16379025 PMID:16518403 PMID:16710702 PMID:16754848 PMID:16877387 PMID:17456821 PMID:17517971 PMID:17554167 PMID:21909106 PMID:22019782 PMID:23362846 PMID:23534868 PMID:26691988 RGD:5684552 RGD:7364995 RGD:7364999 RGD:7365021 RGD:7365022 RGD:7365033 RGD:7365034 RGD:7365035 RGD:7365036 NCBI chr 1:172,155,882...172,251,632
Ensembl chr 1:176,455,247...176,525,521
JBrowse link
G CFI complement factor I no_association
disease_progression
ISO DNA:SNP:cds:c.345G>A (rs2285714) (human)
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.G119R (human)
DNA:SNP:intron:g.110659067T>C (rs10033900) (human)
RGD
CTD
PMID:22815349 PMID:23685748 PMID:23900096 PMID:24036952 PMID:26691988 RGD:8662313 RGD:8662315 RGD:8662321 NCBI chr 4:102,236,868...102,311,359
Ensembl chr 4:112,804,645...112,865,581
JBrowse link
G CNGA1 cyclic nucleotide gated channel subunit alpha 1 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:7479749 PMID:24033266 PMID:24265693 PMID:25326637 PMID:25741868 PMID:28492532 PMID:28981474 PMID:30718709 NCBI chr 4:74,196,877...74,213,563
Ensembl chr 4:84,910,653...84,945,248
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Macular degeneration
ClinVar Annotator: match by term: Macular dystrophy
ClinVar PMID:11536077 PMID:17693388 PMID:18445228 PMID:23972307 PMID:24033266 PMID:25741868 PMID:28341476 PMID:28492532 PMID:28559085 NCBI chr2A:100,911,053...100,962,278
Ensembl chr2A:99,259,808...99,308,517
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:28041643 PMID:28795510 NCBI chr 8:83,269,589...83,439,999
Ensembl chr 8:85,238,043...85,407,059
JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:19390655 PMID:21862674 PMID:23667181 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29977801 NCBI chr21:31,720,358...31,834,470 JBrowse link
G CRB1 crumbs cell polarity complex component 1 ISO DNA:frameshift mutation
ClinVar Annotator: match by term: Macular dystrophy
RGD
ClinVar
PMID:10508521 PMID:11389483 PMID:12700176 PMID:15024725 PMID:15459956 PMID:17128490 PMID:17297678 PMID:20683928 PMID:20956273 PMID:23379534 PMID:24033266 PMID:24432192 PMID:24512366 PMID:25474345 PMID:25741868 PMID:26047050 PMID:26914788 PMID:27096895 PMID:27258436 PMID:27628848 PMID:28041643 PMID:28129017 PMID:28181551 PMID:28341475 PMID:28492532 PMID:28819299 PMID:29391521 PMID:30718709 PMID:33546218 RGD:8552788 NCBI chr 1:172,794,523...173,076,045
Ensembl chr 1:177,174,431...177,422,867
JBrowse link
G CRP C-reactive protein susceptibility ISO protein:increased expression:serum: RGD PMID:16225921 PMID:20346514 RGD:9491758 RGD:9491760 NCBI chr 1:135,062,102...135,064,402 JBrowse link
G CRX cone-rod homeobox ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:28041643 NCBI chr19:44,828,119...44,856,284 JBrowse link
G CRYAB crystallin alpha B treatment ISO RGD PMID:25483086 RGD:13503350 NCBI chr11:106,795,406...106,800,019
Ensembl chr11:110,639,442...110,644,272
JBrowse link
G CX3CR1 C-X3-C motif chemokine receptor 1 no_association ISO DNA:missense mutations:cds:p.V249I, p.T280M (rs3732379, rs3732378) (human)
DNA:missense mutation:cds:p.V249I (human)
DNA:missense mutations:cds:p.V249I, p.T280M (human)
DNA:missense mutation:cds:p.T280M (human)
RGD PMID:15208270 PMID:15944936 PMID:17652758 PMID:22816662 PMID:25050486 RGD:9479078 RGD:9491385 RGD:9491390 RGD:9491392 RGD:9491395 NCBI chr 3:39,158,346...39,176,604
Ensembl chr 3:39,440,955...39,457,219
JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 no_association ISO protein:altered expression: : RGD PMID:12242346 PMID:17666404 PMID:17872905 RGD:10401788 RGD:10401789 RGD:10401794 NCBI chr2A:56,017,678...56,076,059
Ensembl chr2A:57,155,000...57,212,500
JBrowse link
G ELN elastin ISO protein:increased expression:serum: RGD PMID:16123400 RGD:9585737
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO DNA:missense mutations, haplotype:cds:p.D312N, p.K751Q (human) RGD PMID:20375340 RGD:10401085 NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor onset ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Macular degeneration
CTD
ClinVar
RGD
PMID:16754848 PMID:18414213 PMID:21072178 PMID:25741868 PMID:28492532 RGD:10401096 NCBI chr10:44,703,720...44,784,948 JBrowse link
G ESR1 estrogen receptor 1 ISO DNA:snps, haplotype:intron:c.454-397T>C, c.454-351A>G (rs2234693, rs9340799) (human) RGD PMID:17325140 RGD:10045664 NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551
JBrowse link
G EYS eyes shut homolog ISO ClinVar Annotator: match by term: Macular dystrophy ClinVar PMID:20237254 PMID:21069908 PMID:23105016 PMID:25097241 PMID:28492532 PMID:30718709 PMID:31074760 NCBI chr 6:61,424,943...62,195,228 JBrowse link
G FAS Fas cell surface death receptor severity ISO protein:increased expression:choroid, epithelioid cell (human) RGD PMID:9488273 RGD:8662418 NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612
JBrowse link
G FBLN5 fibulin 5 ISO ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:24033266 NCBI chr14:72,504,240...72,583,160
Ensembl chr14:91,848,430...91,927,304
JBrowse link
G FLT1 fms related receptor tyrosine kinase 1 ISO RGD PMID:21731737 RGD:5684426 NCBI chr13:9,584,850...9,779,542 JBrowse link
G FSCN2 fascin actin-bundling protein 2, retinal ISO ClinVar Annotator: match by term: Macular degeneration ClinVar PMID:11527955 PMID:14609921 PMID:15994872 PMID:16280978 PMID:16799052 PMID:17251446 PMID:18450588 PMID:25741868 PMID:28492532 NCBI chr17:75,974,971...75,993,275
Ensembl chr17:81,687,051...81,694,823
JBrowse link
G GSR glutathione-disulfide reductase ISO protein:decreased expression:blood RGD PMID:7803358 RGD:10401825 NCBI chr 8:29,990,543...30,040,157
Ensembl chr 8:27,180,300...27,229,557
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility ISO mRNA, protein:decreased expression:pigmented layer of retina (human)
DNA:deletion:cds (human)
RGD PMID:21212706 PMID:22410570 RGD:12792247 RGD:7488954 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G GSTM3 glutathione S-transferase mu 3 ISO mRNA, protein:decreased expression:pigmented layer of retina (human) RGD PMID:22410570 RGD:12792247