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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:fundus dystrophy
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Accession:DOID:8501 term browser browse the term
Definition:A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues.
Synonyms:exact_synonym: Retinal Dystrophy;   retinal dystrophies
 primary_id: MESH:D058499;   RDO:0001838
 xref: NCI:C35625
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
fundus dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Retinal dystrophy
ClinVar
RGD
PMID:2508288 PMID:8533764 PMID:9054934 PMID:9295268 PMID:9466990 More... RGD:7829713 NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
JBrowse link
G Abhd12 abhydrolase domain containing 12, lysophospholipase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:22938382 PMID:28041643 NCBI chr 3:139,659,315...139,719,529
Ensembl chr 3:139,659,317...139,719,564
JBrowse link
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261
JBrowse link
G Adgra3 adhesion G protein-coupled receptor A3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr14:60,874,719...60,976,341
Ensembl chr14:60,874,715...60,976,332
JBrowse link
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16199547 PMID:19357117 PMID:22135276 PMID:22147658 PMID:23462753 More... NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688
JBrowse link
G Agbl5 AGBL carboxypeptidase 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 6:25,472,333...25,492,173
Ensembl chr 6:25,472,333...25,490,738
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 More... NCBI chr 1:15,768,047...15,886,744
Ensembl chr 1:15,762,462...15,891,041
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 More... NCBI chr10:56,655,693...56,664,922
Ensembl chr10:56,655,693...56,664,922
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 More... NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
JBrowse link
G Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr12:1,395,035...1,503,081
Ensembl chr12:1,395,088...1,503,081
JBrowse link
G Arl2bp ADP-ribosylation factor like GTPase 2 binding protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28041643 NCBI chr19:10,336,921...10,346,555
Ensembl chr19:10,336,921...10,346,564
JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 More... NCBI chr 1:202,184,812...202,204,118
Ensembl chr 1:202,186,125...202,204,086
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 More... NCBI chr 7:46,751,028...46,754,132
Ensembl chr 7:46,750,993...46,754,141
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 More... NCBI chr 2:120,203,396...120,221,024 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:16199547 More... NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11381270 PMID:16199547 PMID:27208204 PMID:28492532 NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607
JBrowse link
G Bbs5 Bardet-Biedl syndrome 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15137946 PMID:16199547 PMID:21209035 PMID:25741868 PMID:28492532 NCBI chr 3:54,410,429...54,431,831
Ensembl chr 3:54,410,775...54,431,829
JBrowse link
G Bbs7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 2:119,434,760...119,474,665
Ensembl chr 2:119,434,760...119,474,396
JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16380913 PMID:20177705 PMID:28492532 NCBI chr 8:21,013,865...21,437,934
Ensembl chr 8:21,013,944...21,437,930
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 More... NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
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:16199547 PMID:20361016 More... NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074
JBrowse link
G Ca4 carbonic anhydrase 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:30718709 NCBI chr10:69,827,945...69,836,501
Ensembl chr10:69,827,945...69,836,501
JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25307992 PMID:25741868 PMID:28041643 PMID:28341476 PMID:28492532 More... NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172
JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9662399 PMID:11281458 PMID:12552565 PMID:17525176 PMID:19578023 More... NCBI chr  X:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413
JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 4:152,408,657...152,524,614
Ensembl chr 4:152,408,657...152,521,268
JBrowse link
G Capn5 calpain 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 1:152,416,252...152,472,923
Ensembl chr 1:152,416,252...152,472,923
JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:19777577 PMID:25741868 PMID:28492532 NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11138009 PMID:12075507 PMID:16199547 PMID:18273900 PMID:18429043 More... NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
JBrowse link
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr19:34,393,596...34,444,084
Ensembl chr19:34,393,727...34,444,084
JBrowse link
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16199547 PMID:20087419 PMID:23044944 PMID:23233793 PMID:23591405 More... NCBI chr16:12,843,436...12,863,321
Ensembl chr16:12,843,437...12,863,396
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:618178 PMID:9326935 PMID:9536098 PMID:9618178 PMID:9760195 More... NCBI chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582
JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 8:46,070,901...46,134,511
Ensembl chr 8:46,071,076...46,134,336
JBrowse link
G Cep250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28005958 PMID:28492532 NCBI chr 3:144,470,946...144,516,125
Ensembl chr 3:144,471,214...144,516,125
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 More... NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16199547 PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 NCBI chr 1:213,246,183...213,275,275
Ensembl chr 1:213,246,187...213,275,181
JBrowse link
G Cerkl ceramide kinase-like ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:14681825 PMID:15708351 PMID:18978954 PMID:20554613 PMID:21151602 More... NCBI chr 3:64,238,714...64,344,695
Ensembl chr 3:64,237,522...64,340,675
JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:23105016 PMID:25741868 PMID:26167768 More... NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737
JBrowse link
G Cfap418 cilia and flagella associated protein 418 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 5:23,996,395...24,015,609
Ensembl chr 5:23,996,718...24,015,605
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 More... NCBI chr  X:78,203,200...78,361,996
Ensembl chr  X:78,203,204...78,361,943
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 More... NCBI chr 1:181,156,071...181,169,458
Ensembl chr 1:181,156,073...181,167,434
JBrowse link
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12080385 PMID:12145752 PMID:14569126 PMID:15521980 PMID:16028794 More... NCBI chr 2:143,084,030...143,130,948
Ensembl chr 2:143,084,030...143,130,948
JBrowse link
G Cnga1 cyclic nucleotide gated channel subunit alpha 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:7479749 PMID:12362048 PMID:23462753 PMID:24033266 PMID:24154662 More... NCBI chr14:35,566,947...35,605,065
Ensembl chr14:35,567,125...35,605,065
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 More... NCBI chr 9:39,447,532...39,497,883
Ensembl chr 9:39,448,034...39,493,183
JBrowse link
G Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15557452 PMID:16199547 PMID:21147909 PMID:21987686 PMID:23105016 More... NCBI chr19:9,726,595...9,791,111
Ensembl chr19:9,726,595...9,791,173
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 More... NCBI chr 5:32,746,988...32,995,121
Ensembl chr 5:32,746,988...32,995,121
JBrowse link
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 9:38,711,726...38,750,942
Ensembl chr 9:38,711,710...38,750,942
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
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 More... NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10706362 PMID:11007540 PMID:16199547 PMID:20179744 PMID:20513134 More... NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1427914 PMID:9536098 PMID:10508521 PMID:11231775 PMID:11389483 More... NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261
JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9427255 PMID:9792858 PMID:9931337 PMID:10916183 PMID:11748859 More... NCBI chr 1:76,540,141...76,545,818
Ensembl chr 1:76,540,141...76,545,818
JBrowse link
G Ctnna1 catenin alpha 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28041643 PMID:28492532 NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910
JBrowse link
G Cwc27 CWC27 spliceosome associated cyclophilin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28285769 PMID:28492532 NCBI chr 2:35,764,674...35,975,908
Ensembl chr 2:35,764,686...35,975,872
JBrowse link
G Cygb cytoglobin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16938425 PMID:20507925 PMID:23805042 PMID:25741868 PMID:28181551 More... NCBI chr10:101,877,675...101,887,442
Ensembl chr10:101,877,676...101,887,442
JBrowse link
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15042513 PMID:15937078 PMID:22772592 PMID:23221965 PMID:24033266 More... NCBI chr16:46,917,929...46,958,735
Ensembl chr16:46,918,401...46,943,395
JBrowse link
G Dram2 DNA-damage regulated autophagy modulator 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25983245 PMID:28492532 NCBI chr 2:194,035,624...194,064,415
Ensembl chr 2:194,035,818...194,063,403
JBrowse link
G Dthd1 death domain containing 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr14:46,670,438...46,673,183 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 More... NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018
JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11138005 PMID:15028284 PMID:23509295 PMID:24833735 PMID:28492532 NCBI chr 8:84,702,916...84,729,466
Ensembl chr 8:84,702,362...84,729,697
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 More... NCBI chr14:97,009,449...97,027,865
Ensembl chr14:97,009,491...97,028,588
JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
JBrowse link
G Flvcr1 FLVCR heme transporter 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:23591405 PMID:25741868 PMID:26467025 More... NCBI chr13:102,586,263...102,608,647
Ensembl chr13:102,586,257...102,608,661
JBrowse link
G Frmd7 FERM domain containing 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr  X:130,375,925...130,423,836
Ensembl chr  X:130,377,227...130,423,771
JBrowse link
G Fzd4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr 1:143,280,065...143,288,799
Ensembl chr 1:143,280,065...143,285,724
JBrowse link
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 4:30,507,530...30,519,109
Ensembl chr 4:30,507,538...30,519,107
JBrowse link
G Gigyf2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 9:88,001,212...88,127,040
Ensembl chr 9:88,001,301...88,125,715
JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671
JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 2:195,726,371...195,735,866
Ensembl chr 2:195,726,762...195,735,866
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:25741868 PMID:28041643 More... NCBI chr10:82,324,568...82,340,448
Ensembl chr10:82,337,771...82,340,448
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 More... NCBI chr10:35,167,985...35,182,717
Ensembl chr10:35,167,985...35,182,717
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 More... NCBI chr 9:13,587,695...13,598,566
Ensembl chr 9:13,588,525...13,598,565
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:8554074 PMID:9618177 PMID:10676808 PMID:10766140 PMID:10951519 More... NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740
JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:16199547 PMID:17033958 PMID:17397050 PMID:17576681 More... NCBI chr16:66,105,233...66,137,444 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 More... NCBI chr20:30,230,488...30,332,161
Ensembl chr20:30,230,486...30,332,131
JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:22503633 PMID:23418020 More... NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24140113 PMID:28492532 PMID:28559085 NCBI chr 6:25,081,933...25,121,271 JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076
JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:23993198 PMID:28492532 PMID:28644393 PMID:30688845 NCBI chr 8:81,243,624...81,389,722
Ensembl chr 8:81,243,624...81,389,722
JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20673862 PMID:24876279 More... NCBI chr11:44,318,836...44,418,382
Ensembl chr11:44,318,836...44,418,382
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 More... NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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 More... NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
JBrowse link
G Itga4 integrin subunit alpha 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209
JBrowse link
G Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 9:88,063,003...88,071,112
Ensembl chr 9:88,063,003...88,071,112
JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16909397 PMID:17896311 PMID:18235024 PMID:18400204 PMID:21558291 More... NCBI chr 1:224,999,552...225,014,062
Ensembl chr 1:224,999,552...225,014,062
JBrowse link
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 PMID:30452590 NCBI chr 1:235,124,371...235,176,760
Ensembl chr 1:235,124,316...235,176,766
JBrowse link
G Kiz kizuna centrosomal protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24680887 PMID:25741868 PMID:28166811 PMID:28492532 PMID:28837078 More... NCBI chr 3:134,277,631...134,385,260
Ensembl chr 3:134,277,687...134,385,190
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 More... NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
JBrowse link
G Lca5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:8571951 PMID:17546029 PMID:19503738 PMID:20301475 PMID:21606596 More... NCBI chr 8:84,307,696...84,375,025
Ensembl chr 8:84,317,659...84,374,956
JBrowse link
G LOC100361018 rCG22048-like ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24033266 PMID:28492532 NCBI chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487
JBrowse link
G LOC690035 similar to Protein KIAA0586 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:26026149 PMID:26096313 More... NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
JBrowse link
G Lrat lecithin retinol acyltransferase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28041643 NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16252235 PMID:27208204 PMID:28492532 PMID:30452590 NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
JBrowse link
G Mak male germ cell-associated kinase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:21148103 PMID:21825139 PMID:24938718 PMID:25741868 PMID:28492532 More... NCBI chr17:23,683,674...23,731,125
Ensembl chr17:23,693,878...23,730,001
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 More... NCBI chr 3:115,939,351...116,045,141
Ensembl chr 3:115,939,351...116,046,554
JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12140190 PMID:12944416 PMID:15976030 PMID:16199547 PMID:20361016 More... NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859
JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:19177532 PMID:25227500 PMID:25333361 PMID:28041643 PMID:28492532 More... NCBI chr 2:123,822,042...123,882,913
Ensembl chr 2:123,816,614...123,857,971
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 More... NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16311595 PMID:19370762 PMID:24210589 PMID:25741868 PMID:28492532 NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15457465 NCBI chr12:42,141,391...42,158,858
Ensembl chr12:42,141,384...42,158,882
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 More... NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
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 More... NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180
JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15776426 PMID:21068128 PMID:21546380 PMID:25741868 PMID:28492532 NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
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 More... NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163
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 More... NCBI chr15:29,008,104...29,009,832
Ensembl chr15:29,008,104...29,009,832
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:9,280,864...9,301,900
Ensembl chr  X:9,280,864...9,301,900
JBrowse link
G Oat ornithine aminotransferase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1609808 PMID:1737786 PMID:3339136 PMID:22674428 PMID:23076989 More... NCBI chr 1:187,347,862...187,367,644
Ensembl chr 1:187,347,865...187,367,682
JBrowse link
G Ofd1 OFD1, centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110
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 More... NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:17541950 PMID:28492532 NCBI chr15:21,942,233...21,953,034
Ensembl chr15:21,943,191...21,953,416
JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28041643 PMID:28492532 NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
JBrowse link
G Pcare photoreceptor cilium actin regulator ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:20398886 PMID:21412943 PMID:23105016 PMID:24339724 PMID:25741868 More... NCBI chr 6:23,749,700...23,758,419
Ensembl chr 6:23,749,757...23,758,169
JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11398101 PMID:11487575 PMID:14570705 PMID:22815625 PMID:23451239 More... NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719
JBrowse link
G Pde6a phosphodiesterase 6A ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:7493036 PMID:9536098 PMID:10393062 PMID:16199547 PMID:17110911 More... NCBI chr18:54,676,863...54,749,644
Ensembl chr18:54,676,863...54,748,816
JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:7724547 PMID:8394174 PMID:8595886 PMID:9238087 PMID:9536098 More... NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:19887631 PMID:23776498 PMID:26103963 PMID:28492532 PMID:30080950 NCBI chr 1:235,909,473...235,965,460
Ensembl chr 1:235,909,775...235,965,315
JBrowse link
G Pde6g phosphodiesterase 6G ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr10:105,721,502...105,727,204 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 More... NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
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 More... NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
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 More... NCBI chr 9:33,063,855...33,136,013
Ensembl chr 9:33,063,857...33,135,994
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:16199547 More... NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409
JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr10:56,674,697...56,766,552
Ensembl chr10:56,676,261...56,766,584
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
JBrowse link
G Poc1b POC1 centriolar protein B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 7:33,924,035...34,025,908
Ensembl chr 7:33,924,189...34,025,903
JBrowse link
G Prcd photoreceptor disc component ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16938425 PMID:20507925 PMID:23805042 PMID:25741868 PMID:28181551 More... NCBI chr10:101,887,192...101,907,647 JBrowse link
G Prdm13 PR/SET domain 13 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 5:35,220,815...35,233,641
Ensembl chr 5:35,225,435...35,232,881
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 More... NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527
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 More... NCBI chr 2:183,379,041...183,403,526
Ensembl chr 2:183,378,718...183,403,489
JBrowse link
G Prpf31 pre-mRNA processing factor 31 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:8808602 PMID:11545739 PMID:16799052 PMID:17325180 PMID:23288994 More... NCBI chr 1:65,575,887...65,587,561
Ensembl chr 1:65,575,887...65,587,873
JBrowse link
G Prpf4 pre-mRNA processing factor 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 5:75,859,934...75,873,924
Ensembl chr 5:75,859,924...75,873,919
JBrowse link
G Prpf6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25356976 PMID:28492532 NCBI chr 3:168,706,952...168,771,191
Ensembl chr 3:168,704,299...168,774,991
JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11468273 PMID:17061239 PMID:18695108 PMID:20232351 PMID:21378395 More... NCBI chr10:60,331,494...60,354,606
Ensembl chr10:60,331,494...60,354,606
JBrowse link
G Prph2 peripherin 2 no_association ISO DNA:polymorphism:exon:p.E304Q,G338D(human)
ClinVar Annotator: match by term: Retinal dystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1684223 PMID:4142662 PMID:7519821 PMID:7825692 PMID:7862413 More... RGD:8553224 NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28967191 NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187
JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr 1:143,402,725...143,422,182
Ensembl chr 1:143,401,396...143,422,091
JBrowse link
G Rab28 RAB28, member RAS oncogene family ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr14:69,245,846...69,322,968
Ensembl chr14:69,245,854...69,322,967
JBrowse link
G Rbp3 retinol binding protein 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9614228 PMID:23105016 PMID:25766589 PMID:26872967 PMID:28492532 NCBI chr16:9,267,538...9,276,006
Ensembl chr16:9,267,538...9,276,006
JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Retinal dystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9536098 PMID:15258582 PMID:15322982 PMID:16269441 PMID:17389517 More... NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388
JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11675386 PMID:20829743 PMID:22815624 PMID:23462753 PMID:28492532 More... NCBI chr 7:1,340,545...1,347,361 JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 7:9,373,927...9,380,845
Ensembl chr 7:9,373,927...9,380,597
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
JBrowse link
G Rgr retinal G protein coupled receptor ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10581022 PMID:28041643 NCBI chr16:12,801,594...12,816,402
Ensembl chr16:12,801,594...12,816,223
JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1301135 PMID:1302614 PMID:1303237 PMID:1418997 PMID:1484692 More... NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
JBrowse link
G Ric3 RIC3 acetylcholine receptor chaperone ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 1:163,030,621...163,086,583
Ensembl chr 1:163,032,158...163,086,519
JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9634506 PMID:12659814 PMID:18690027 PMID:27176872 PMID:28492532 NCBI chr 9:24,696,959...25,196,368
Ensembl chr 9:24,698,854...25,196,631
JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2392416 PMID:10102299 PMID:11301032 PMID:12536144 PMID:18344446 More... NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296
JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 PMID:30718709 NCBI chr 1:205,824,050...205,826,058
Ensembl chr 1:205,824,052...205,826,175
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 More... NCBI chr 5:15,121,104...15,582,363
Ensembl chr 5:15,121,133...15,579,363
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 More... NCBI chr15:38,259,595...38,271,269
Ensembl chr15:38,259,928...38,270,316
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 More... NCBI chr  X:1,872,581...1,916,704
Ensembl chr  X:1,873,306...1,916,688
JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Retinal dystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9326941 PMID:9501220 PMID:9536098 PMID:10766140 PMID:10937591 More... NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Retinal dystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8673101 PMID:9326322 PMID:9399904 PMID:9855162 PMID:10932196 More... NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11528500 PMID:12920076 PMID:15024725 PMID:23105016 PMID:25445212 More... NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:618178 PMID:9326935 PMID:9536098 PMID:9618178 PMID:9760195 More... NCBI chr  X:33,963,657...33,992,115
Ensembl chr  X:33,963,657...33,992,115
JBrowse link
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9452120 PMID:15234147 PMID:16199547 PMID:22419846 PMID:22665972 More... NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820
JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:26103963 PMID:28492532 NCBI chr 2:173,896,432...173,917,903
Ensembl chr 2:173,896,439...173,914,442
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 More... NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12037007 PMID:20850105 PMID:26822852 PMID:28492532 NCBI chr 8:65,440,842...65,466,001
Ensembl chr 8:65,440,730...65,466,001
JBrowse link
G Slc7a14 solute carrier family 7, member 14 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 2:112,065,286...112,171,319
Ensembl chr 2:112,065,286...112,171,313
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 More... NCBI chr 3:114,428,854...114,458,194
Ensembl chr 3:114,428,854...114,458,182
JBrowse link
G Spata7 spermatogenesis associated 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:19268277 PMID:21310915 PMID:22136677 PMID:22334370 PMID:23847139 More... NCBI chr 6:117,879,828...117,925,284
Ensembl chr 6:117,879,823...117,925,284
JBrowse link
G Syn3 synapsin III ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:23023527 PMID:26493035 PMID:27601084 PMID:28492532 PMID:28559085 NCBI chr 7:16,216,055...17,808,790
Ensembl chr 7:17,376,372...17,808,790
JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:23023527 PMID:26493035 PMID:27601084 PMID:28492532 PMID:28559085 NCBI chr 7:17,520,827...17,571,871
Ensembl chr 7:17,521,919...17,571,839
JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:26872967 NCBI chr 5:55,388,033...55,399,937
Ensembl chr 5:55,387,632...55,399,937
JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:19896109 PMID:19896113 PMID:28492532 NCBI chr 1:117,718,896...117,835,434
Ensembl chr 1:117,718,896...117,834,605
JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr 4:50,313,768...50,389,246
Ensembl chr 4:50,313,772...50,389,246
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:18414213 PMID:20301500 PMID:21258341 PMID:24876116 PMID:25741868 More... NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
JBrowse link
G Ttc8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:16308660 PMID:17576681 PMID:21044901 PMID:24033266 More... NCBI chr 6:118,198,186...118,252,422
Ensembl chr 6:118,198,201...118,252,418
JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24791901 PMID:25741868 PMID:27162334 PMID:28173158 PMID:28492532 NCBI chr 6:105,483,091...105,700,920
Ensembl chr 6:105,483,191...105,700,934
JBrowse link
G Tub TUB bipartite transcription factor ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 1:163,008,198...163,030,958
Ensembl chr 1:162,951,931...163,026,812
JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:8606774 PMID:9462750 PMID:9660588 PMID:10549638 PMID:15024725 More... NCBI chr20:6,412,170...6,424,312
Ensembl chr20:6,412,171...6,424,073
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 More... NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1968399 PMID:2525289 PMID:9536098 PMID:9624053 PMID:10090909 More... NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
JBrowse link
G Vcan versican ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16043844 PMID:16877430 PMID:21738396 PMID:22739342 NCBI chr 2:20,761,718...20,860,637
Ensembl chr 2:20,761,718...20,860,637
JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 More... NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24033266 PMID:28492532 NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223
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 More... NCBI chr 1:202,175,832...202,181,943
Ensembl chr 1:202,175,807...202,182,880
JBrowse link
G Zfp513 zinc finger protein 513 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 6:25,174,178...25,177,442
Ensembl chr 6:25,174,178...25,177,439
JBrowse link
G Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:15258582 PMID:15322982 PMID:16269441 PMID:17389517 More... NCBI chr 6:98,031,874...98,095,538
Ensembl chr 6:98,032,520...98,095,480
JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25882705 PMID:28492532 NCBI chr 3:77,615,595...77,621,325 JBrowse link
Alstrom syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alms1 ALMS1, centrosome and basal body associated protein susceptibility ISO DNA:frameshift mutations, nonsense mutations
ClinVar Annotator: match by term: Alstrom syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:203800
DNA:frameshift mutations, nonsense mutations, missense mutations:multiple
DNA:nonsense mutations, frameshift mutation, missense mutation:multiple
ClinVar
CTD
OMIM
RGD
PMID:9063741 PMID:9409865 PMID:9536098 PMID:11941369 PMID:11941370 More... RGD:1601169, RGD:8696018, RGD:8696016, RGD:8696015, RGD:8696013 NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,989,232...118,006,478
Ensembl chr 4:117,989,232...118,006,580
JBrowse link
G Egr4 early growth response 4 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:118,047,869...118,050,328
Ensembl chr 4:118,047,869...118,050,328
JBrowse link
G Emx1 empty spiracles homeobox 1 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,725,148...117,741,616
Ensembl chr 4:117,725,155...117,741,613
JBrowse link
G Fbxo41 F-box protein 41 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:118,007,517...118,039,547
Ensembl chr 4:118,010,978...118,039,406
JBrowse link
G Noto notochord homeobox ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,961,163...117,965,402
Ensembl chr 4:117,961,163...117,965,402
JBrowse link
G Pradc1 protease-associated domain containing 1 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,984,732...117,989,710
Ensembl chr 4:117,984,742...117,989,886
JBrowse link
G Rab11fip5 RAB11 family interacting protein 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,871,301...117,908,819
Ensembl chr 4:117,871,308...117,908,741
JBrowse link
G Sfxn5 sideroflexin 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,750,213...117,869,826
Ensembl chr 4:117,752,806...117,869,794
JBrowse link
G Smyd5 SMYD family member 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,969,615...117,984,082
Ensembl chr 4:117,969,626...117,984,347
JBrowse link
G Spr sepiapterin reductase ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,671,948...117,676,292
Ensembl chr 4:117,671,949...117,675,678
JBrowse link
Amaurosis Hypertrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:38,711,726...38,750,942
Ensembl chr 9:38,711,710...38,750,942
JBrowse link
autosomal dominant vitreoretinochoroidopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Vitreoretinochoroidopathy
ClinVar Annotator: match by OMIM:193220
ClinVar Annotator: match by synonym: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
OMIM
ClinVar
PMID:10453731 PMID:10798642 PMID:10854112 PMID:11585313 PMID:11713080 More... NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
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 More... NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
JBrowse link
Bothnia retinal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: VASTERBOTTEN DYSTROPHY
ClinVar Annotator: match by term: Bothnia retinal dystrophy
OMIM
ClinVar
PMID:10102298 PMID:10102299 PMID:11449319 PMID:12536144 PMID:15953459 More... NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296
JBrowse link
Boucher-Neuhauser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome
ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism
ClinVar Annotator: match by term: Boucher Neuhauser syndrome
ClinVar Annotator: match by OMIM:215470
OMIM
ClinVar
PMID:3963113 PMID:8053762 PMID:9321767 PMID:18313024 PMID:20603202 More... NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
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:1,872,581...1,916,704
Ensembl chr  X:1,873,306...1,916,688
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: Benign concentric annular macular dystrophy
ClinVar
RGD
PMID:10090887 PMID:10958761 PMID:10958763 PMID:15614537 PMID:18285826 More... RGD:7829711 NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Bull's eye maculopathy ClinVar PMID:23806086 PMID:24088041 PMID:25259927 PMID:28492532 NCBI chr 1:76,540,141...76,545,818
Ensembl chr 1:76,540,141...76,545,818
JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO OMIM NCBI chr 8:81,243,624...81,389,722
Ensembl chr 8:81,243,624...81,389,722
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Bull's eye maculopathy ClinVar PMID:16521288 PMID:18253926 PMID:19015156 PMID:19825159 PMID:22473935 More... NCBI chr 1:84,292,578...84,423,799
Ensembl chr 1:84,292,578...84,423,812
JBrowse link
Cone Dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Cone dystrophy 4 OMIM
ClinVar
PMID:9536098 PMID:10393054 PMID:17576681 PMID:18614542 PMID:19615668 More... NCBI chr 1:235,909,473...235,965,460
Ensembl chr 1:235,909,775...235,965,315
JBrowse link
cone-rod dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive
ClinVar Annotator: match by term: Cone-rod degeneration
ClinVar PMID:9054934 PMID:9295268 PMID:9466990 PMID:9536098 PMID:9666097 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
JBrowse link
G Acbd5 acyl-CoA binding domain containing 5 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:28492532 NCBI chr17:85,206,178...85,248,909
Ensembl chr17:85,206,303...85,248,215
JBrowse link
G Adam9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive
ClinVar Annotator: match by term: Cone-rod degeneration
ClinVar PMID:19409519 PMID:25741868 PMID:28492532 NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917
JBrowse link
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Rod-cone dystrophy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive
ClinVar PMID:15322546 PMID:16155189 PMID:16453322 PMID:25525159 PMID:25616960 More... NCBI chr 1:15,768,047...15,886,744
Ensembl chr 1:15,762,462...15,891,041
JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Cone-rod degeneration ClinVar PMID:17594715 PMID:26047050 PMID:26077327 PMID:28492532 PMID:29588463 NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
JBrowse link
G Arl6 ADP-ribosylation factor like GTPase 6 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937
JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
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:25307992 PMID:28492532 PMID:29525873 More... NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172
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:14,868,096...14,896,413
Ensembl chr  X:14,868,024...14,896,413
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:16199547 PMID:23044944 PMID:23233793 PMID:23591405 PMID:24033266 More... NCBI chr16:12,843,436...12,863,321
Ensembl chr16:12,843,437...12,863,396
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Rod-cone dystrophy
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar PMID:16909394 PMID:17345604 PMID:20690115 PMID:25377065 PMID:25741868 More... NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr 1:213,246,183...213,275,275
Ensembl chr 1:213,246,187...213,275,181
JBrowse link
G Cerkl ceramide kinase-like ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:14681825 PMID:15708351 PMID:21151602 PMID:22164218 PMID:24043777 More... NCBI chr 3:64,238,714...64,344,695
Ensembl chr 3:64,237,522...64,340,675
JBrowse link
G Cfap418 cilia and flagella associated protein 418 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar NCBI chr 5:23,996,395...24,015,609
Ensembl chr 5:23,996,718...24,015,605
JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr 1:181,156,071...181,169,458
Ensembl chr 1:181,156,073...181,167,434
JBrowse link
G Cnga1 cyclic nucleotide gated channel subunit alpha 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:7479749 PMID:24033266 PMID:24265693 PMID:25326637 PMID:25741868 More... NCBI chr14:35,566,947...35,605,065
Ensembl chr14:35,567,125...35,605,065
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:28492532 PMID:30289319 NCBI chr 9:39,447,532...39,497,883
Ensembl chr 9:39,448,034...39,493,183
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 More... NCBI chr 5:32,746,988...32,995,121
Ensembl chr 5:32,746,988...32,995,121
JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO DNA:missense mutation:cds:p.C27F(c.80G¿¿¿>¿¿¿T)(human)
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar
RGD
PMID:25741868 PMID:23767994 RGD:13451130 NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261
JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
ClinVar PMID:30718709 NCBI chr 1:76,540,141...76,545,818
Ensembl chr 1:76,540,141...76,545,818
JBrowse link
G Fam161a FAM161 centrosomal protein A ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:20705278 PMID:24651477 PMID:25097241 PMID:25525159 PMID:25741868 More... NCBI chr14:97,009,449...97,027,865
Ensembl chr14:97,009,491...97,028,588
JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Rod-cone dystrophy
ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:13,587,695...13,598,566
Ensembl chr 9:13,588,525...13,598,565
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Cone-rod degeneration
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar PMID:25741868 PMID:28492532 NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
JBrowse link
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Rod-cone dystrophy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive
ClinVar Annotator: match by term: Cone-rod degeneration
ClinVar PMID:19668216 PMID:23034536 PMID:23386033 PMID:23847139 PMID:25741868 More... NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
JBrowse link
G Itga4 integrin subunit alpha 4 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:25741868 NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715
JBrowse link
G Lrat lecithin retinol acyltransferase ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619
JBrowse link
G Mir103a2 microRNA 103a-2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar NCBI chr 3:118,510,194...118,510,279
Ensembl chr 3:118,510,194...118,510,279
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180
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:16199547 PMID:18294254 More... NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163
JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar NCBI chr 3:118,483,382...118,519,551
Ensembl chr 3:118,483,444...118,518,320
JBrowse link
G Pcare photoreceptor cilium actin regulator ISO ClinVar Annotator: match by term: Cone-rod degeneration ClinVar PMID:20398886 PMID:24339724 PMID:26496393 PMID:28492532 PMID:28763557 NCBI chr 6:23,749,700...23,758,419
Ensembl chr 6:23,749,757...23,758,169
JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Rod-cone dystrophy
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar PMID:8394174 PMID:8595886 PMID:9238087 PMID:22334370 PMID:23105016 More... NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar NCBI chr 1:235,909,473...235,965,460
Ensembl chr 1:235,909,775...235,965,315
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:29576450 PMID:30004997 NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant ClinVar PMID:28492532 NCBI chr10:56,674,697...56,766,552
Ensembl chr10:56,676,261...56,766,584
JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:24355708 More... NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
JBrowse link
G Poc1b POC1 centriolar protein B ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr 7:33,924,035...34,025,908
Ensembl chr 7:33,924,189...34,025,903
JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
ClinVar Annotator: match by term: Cone-rod degeneration
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY
ClinVar PMID:10205271 PMID:16199547 PMID:17605048 PMID:19718270 PMID:23591405 More... NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527
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 PMID:7493155 PMID:8015786 PMID:8302543 PMID:8485576 PMID:8675410 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
JBrowse link
G Rab28 RAB28, member RAS oncogene family ISO ClinVar Annotator: match by term: Cone-rod degeneration ClinVar PMID:23746546 NCBI chr14:69,245,846...69,322,968
Ensembl chr14:69,245,854...69,322,967
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 More... NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:30193310 NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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 More... NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant ClinVar PMID:28492532 NCBI chr 9:24,696,959...25,196,368
Ensembl chr 9:24,698,854...25,196,631
JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:30718709 NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive
ClinVar Annotator: match by term: Cone-rod degeneration
ClinVar PMID:11528500 PMID:16272259 PMID:23105016 PMID:25741868 PMID:28492532 More... NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
JBrowse link
G Scaper S-phase cyclin A-associated protein in the ER ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:28794130 NCBI chr 8:55,932,717...56,332,222
Ensembl chr 8:55,933,306...56,332,122
JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar PMID:28492532 NCBI chr 2:173,896,432...173,917,903
Ensembl chr 2:173,896,439...173,914,442
JBrowse link
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:23847139 PMID:25741868 PMID:27735924 PMID:28492532 PMID:28559085 NCBI chr 3:114,428,854...114,458,194
Ensembl chr 3:114,428,854...114,458,182
JBrowse link
G Trpm6 transient receptor potential cation channel, subfamily M, member 6 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:28041643 PMID:32581362 NCBI chr 1:216,136,407...216,320,523
Ensembl chr 1:216,170,038...216,320,520
JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr 6:105,483,091...105,700,920
Ensembl chr 6:105,483,191...105,700,934
JBrowse link
G Unc119 unc-119 lipid binding chaperone ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar PMID:11006213 PMID:22184408 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:63,237,862...63,243,339
Ensembl chr10:63,237,903...63,243,339
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 More... NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
JBrowse link
cone-rod dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6b phosphodiesterase 6B ISO Cone-rod dystrophy 1 OMIA PMID:15064680 PMID:22065099 PMID:24045995 NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
JBrowse link
cone-rod dystrophy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Cone-rod dystrophy 10
ClinVar Annotator: match by OMIM:610283
OMIM
ClinVar
PMID:16199541 PMID:24033266 PMID:25307848 PMID:25741868 PMID:26103963 More... NCBI chr 2:173,896,432...173,917,903
Ensembl chr 2:173,896,439...173,914,442
JBrowse link
cone-rod dystrophy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 12
ClinVar Annotator: match by OMIM:612657
OMIM
ClinVar
PMID:10205271 PMID:12657606 PMID:16199547 PMID:17605048 PMID:18654668 More... NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527
JBrowse link
cone-rod dystrophy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13 ClinVar PMID:11528500 PMID:23105016 PMID:28492532 NCBI chr15:24,905,789...24,965,461
Ensembl chr15:24,905,789...24,951,285
JBrowse link
G Mettl3 methyltransferase-like 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13 ClinVar PMID:11528500 PMID:23105016 PMID:28492532 NCBI chr15:25,002,505...25,014,097
Ensembl chr15:25,003,172...25,014,041
JBrowse link
G Rab2b RAB2B, member RAS oncogene family ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13 ClinVar PMID:11528500 PMID:23105016 PMID:28492532 NCBI chr15:24,968,364...24,988,990
Ensembl chr15:24,968,803...24,989,113
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13
ClinVar Annotator: match by OMIM:608194
OMIM
ClinVar
PMID:9536098 PMID:11283794 PMID:11528500 PMID:12920076 PMID:14971589 More... NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
JBrowse link
G Sall2 spalt-like transcription factor 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13 ClinVar PMID:11528500 PMID:23105016 PMID:28492532 NCBI chr15:25,021,345...25,038,918
Ensembl chr15:25,021,345...25,038,918
JBrowse link
G Supt16h SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13 ClinVar PMID:11528500 PMID:23105016 PMID:28492532 NCBI chr15:24,867,697...24,904,818
Ensembl chr15:24,866,489...24,904,846
JBrowse link
G Tox4 TOX high mobility group box family member 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13 ClinVar PMID:11528500 PMID:23105016 PMID:28492532 NCBI chr15:24,989,246...25,002,833
Ensembl chr15:24,988,853...25,002,833
JBrowse link
cone-rod dystrophy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Cone dystrophy 3
ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 14
ClinVar PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr 4:152,408,657...152,524,614
Ensembl chr 4:152,408,657...152,521,268
JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Cone dystrophy 3
ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 14
OMIM
ClinVar
PMID:9425234 PMID:9651312 PMID:9702199 PMID:11146732 PMID:11484154 More... NCBI chr 9:13,587,695...13,598,566
Ensembl chr 9:13,588,525...13,598,565
JBrowse link
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 14 ClinVar PMID:15505030 PMID:25741868 PMID:28492532 NCBI chr 9:13,599,619...13,607,455
Ensembl chr 9:13,599,619...13,607,455
JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 14 ClinVar PMID:23885164 PMID:25741868 PMID:28492532 NCBI chr 1:224,999,552...225,014,062
Ensembl chr 1:224,999,552...225,014,062
JBrowse link
G LOC100912849 uncharacterized LOC100912849 ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar NCBI chr 9:13,560,663...13,582,987
Ensembl chr 9:13,560,876...13,582,814
JBrowse link
G Pde6h phosphodiesterase 6H ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar NCBI chr 4:169,857,793...169,872,969
Ensembl chr 4:169,857,812...169,872,969
JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar PMID:17936999 PMID:23484092 PMID:25741868 PMID:28492532 NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
JBrowse link
cone-rod dystrophy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 15
ClinVar Annotator: match by term: Retinitis pigmentosa 65
ClinVar Annotator: match by synonym: Retinitis pigmentosa 65
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:20087419 PMID:20805371 PMID:23044944 More... NCBI chr16:12,843,436...12,863,321
Ensembl chr16:12,843,437...12,863,396
JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 15 ClinVar PMID:25741868 NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
JBrowse link
cone-rod dystrophy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap418 cilia and flagella associated protein 418 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 64
ClinVar Annotator: match by term: Cone-rod dystrophy 16
ClinVar Annotator: match by OMIM:614500
OMIM
ClinVar
PMID:22177090 PMID:25741868 PMID:25802487 PMID:26355662 PMID:26854863 More... NCBI chr 5:23,996,395...24,015,609
Ensembl chr 5:23,996,718...24,015,605
JBrowse link
cone-rod dystrophy 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab28 RAB28, member RAS oncogene family ISO ClinVar Annotator: match by term: Cone-rod dystrophy 18
ClinVar Annotator: match by OMIM:615374
OMIM
ClinVar
PMID:23746546 PMID:23806086 PMID:24088041 PMID:25356532 PMID:25741868 More... NCBI chr14:69,245,846...69,322,968
Ensembl chr14:69,245,854...69,322,967
JBrowse link
cone-rod dystrophy 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 19 OMIM
ClinVar
PMID:24791901 PMID:25741868 PMID:27162334 PMID:28173158 PMID:28492532 NCBI chr 6:105,483,091...105,700,920
Ensembl chr 6:105,483,191...105,700,934
JBrowse link
cone-rod dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 ClinVar PMID:25741868 NCBI chr10:56,655,693...56,664,922
Ensembl chr10:56,655,693...56,664,922
JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:120970
OMIM
ClinVar
PMID:9390563 PMID:9427255 PMID:9792858 PMID:10766140 PMID:10916183 More... NCBI chr 1:76,540,141...76,545,818
Ensembl chr 1:76,540,141...76,545,818
JBrowse link
G Iqcb1 IQ motif containing B1 ISO Cone-rod dystrophy 2 OMIA PMID:15064680 PMID:22065099 PMID:24045995 PMID:27506978 PMID:33781914 NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
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:17605048 PMID:19718270 PMID:24154662 PMID:25741868 More... NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527
JBrowse link
cone-rod dystrophy 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Poc1b POC1 centriolar protein B ISO ClinVar Annotator: match by term: Cone-rod dystrophy 20 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:24945461 PMID:25018096 PMID:25044745 More... NCBI chr 7:33,924,035...34,025,908
Ensembl chr 7:33,924,189...34,025,903
JBrowse link
Cone-Rod Dystrophy 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dram2 DNA-damage regulated autophagy modulator 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 21 OMIM
ClinVar
PMID:25741868 PMID:25983245 PMID:28492532 NCBI chr 2:194,035,624...194,064,415
Ensembl chr 2:194,035,818...194,063,403
JBrowse link
Cone-Rod Dystrophy 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RGD1563217 similar to RIKEN cDNA 4930451I11 ISO ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 22 ClinVar PMID:33077892 NCBI chr 1:181,434,524...181,441,000 JBrowse link
G Tlcd3b TLC domain containing 3B ISO ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 22 OMIM
ClinVar
PMID:33077892 NCBI chr 1:181,421,104...181,439,744
Ensembl chr 1:181,422,830...181,439,743
JBrowse link
cone-rod dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 3
ClinVar Annotator: match by OMIM:604116
OMIM
ClinVar
PMID:9054934 PMID:9295268 PMID:9466990 PMID:9490294 PMID:9503029 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
JBrowse link
G Adam9 ADAM metallopeptidase domain 9 ISO Cone-rod dystrophy 3 OMIA PMID:20691256 PMID:20806078 PMID:22065099 NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917
JBrowse link
cone-rod dystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pimreg PICALM interacting mitotic regulator ISO ClinVar Annotator: match by term: Cone-rod dystrophy 5 ClinVar NCBI chr10:56,669,603...56,674,540
Ensembl chr10:56,669,675...56,674,791
JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 5 OMIM
ClinVar
PMID:8586428 PMID:17377520 PMID:22405330 PMID:25741868 PMID:28492532 More... NCBI chr10:56,674,697...56,766,552
Ensembl chr10:56,676,261...56,766,584
JBrowse link
cone-rod dystrophy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
JBrowse link
G Alox15b arachidonate 15-lipoxygenase, type B ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr10:53,892,496...53,901,812
Ensembl chr10:53,892,466...53,901,812
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
JBrowse link
G Cntrob centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr10:54,022,523...54,047,793
Ensembl chr10:54,022,852...54,044,849
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6
ClinVar Annotator: match by term: Retinal cone dystrophy 2
ClinVar Annotator: match by OMIM:601777
OMIM
ClinVar
PMID:8554074 PMID:8944027 PMID:9536098 PMID:9618177 PMID:9683616 More... NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:25741868 NCBI chr 1:224,999,552...225,014,062
Ensembl chr 1:224,999,552...225,014,062
JBrowse link
cone-rod dystrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 7 OMIM
ClinVar
PMID:9634506 PMID:12659814 PMID:18690027 PMID:23591405 PMID:25741868 More... NCBI chr 9:24,696,959...25,196,368
Ensembl chr 9:24,698,854...25,196,631
JBrowse link
cone-rod dystrophy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 9
ClinVar Annotator: match by OMIM:612775
OMIM
ClinVar
PMID:11581183 PMID:19409519 PMID:25091951 PMID:25741868 PMID:28492532 NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917
JBrowse link
G Tm2d2 TM2 domain containing 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 9 ClinVar NCBI chr16:67,016,683...67,022,206
Ensembl chr16:67,012,675...67,022,226
JBrowse link
Cone-Rod Dystrophy and Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: CONE-ROD DYSTROPHY AND HEARING LOSS
ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 1
ClinVar
OMIM
PMID:16199547 PMID:25741868 PMID:27588451 PMID:27588452 PMID:27627988 More... NCBI chr 1:213,246,183...213,275,275
Ensembl chr 1:213,246,187...213,275,181
JBrowse link
Cone-Rod Dystrophy and Hearing Loss 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 2 OMIM
ClinVar
PMID:24780881 PMID:25741868 PMID:28492532 PMID:29718797 PMID:30459346 More... NCBI chr 3:144,470,946...144,516,125
Ensembl chr 3:144,471,214...144,516,125
JBrowse link
CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rims2 regulating synaptic membrane exocytosis 2 ISO ClinVar Annotator: match by term: CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE ClinVar
OMIM
PMID:32470375 NCBI chr 7:70,248,104...70,759,134
Ensembl chr 7:70,243,872...70,757,491
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 More... NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
JBrowse link
fundus albipunctatus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfrp membrane frizzled-related protein ISS OMIM:136880 MouseDO NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859
JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Pigmentary retinal dystrophy
ClinVar Annotator: match by term: Fundus albipunctatus
ClinVar Annotator: match by term: Retinitis punctata albescens, autosomal dominant
DNA:deletion:cds:
OMIM
ClinVar
RGD
PMID:8485575 PMID:8675410 PMID:8994365 PMID:9331261 PMID:10627133 More... RGD:8553223 NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO ClinVar Annotator: match by term: Pigmentary retinal dystrophy
ClinVar Annotator: match by term: Fundus albipunctatus, autosomal recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:136880
OMIM
ClinVar
CTD
PMID:302784 PMID:2336278 PMID:10369264 PMID:10617778 PMID:11053295 More... NCBI chr 7:1,340,545...1,347,361 JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Pigmentary retinal dystrophy
ClinVar Annotator: match by term: Retinitis punctata albescens
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1484692 PMID:1862076 PMID:1882937 PMID:8107847 PMID:8554077 More... NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Retinitis punctata albescens
ClinVar Annotator: match by term: Pigmentary retinal dystrophy
ClinVar Annotator: match by term: Fundus albipunctatus
ClinVar Annotator: match by synonym: Retinitis punctata albescens
OMIM
ClinVar
PMID:9326942 PMID:10102298 PMID:10102299 PMID:11449319 PMID:11453974 More... NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296
JBrowse link
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma ISO ClinVar Annotator: match by term: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY ClinVar
OMIM
PMID:30893644 NCBI chr 6:72,647,025...72,670,885
Ensembl chr 6:72,647,025...72,672,491
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scaper S-phase cyclin A-associated protein in the ER ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA ClinVar
OMIM
PMID:28794130 PMID:32214227 NCBI chr 8:55,932,717...56,332,222
Ensembl chr 8:55,933,306...56,332,122
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:16199547 More... NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074
JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Microphthalmia, isolated 5
ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
DNA:deletion,nonsense mutation:exons:p.N167TfsX25,p.Y317X(human)
ClinVar Annotator: match by OMIM:611040
OMIM
ClinVar
RGD
PMID:1258954 PMID:9536098 PMID:12140190 PMID:15976030 PMID:16199547 More... RGD:11553925 NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859
JBrowse link
Jalili syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: Jalili syndrome OMIM
ClinVar
PMID:3236352 PMID:9536098 PMID:15173235 PMID:17576681 PMID:19200525 More... NCBI chr 9:38,711,726...38,750,942
Ensembl chr 9:38,711,710...38,750,942
JBrowse link
Kearns-Sayre syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO RGD PMID:23406886 RGD:7241824 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Tfam transcription factor A, mitochondrial ISS OMIM:530000 MouseDO NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
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 ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED
ClinVar Annotator: match by term: Leber congenital amaurosis 14
ClinVar Annotator: match by synonym: RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED
OMIM
ClinVar
PMID:11381255 PMID:17011878 PMID:18055821 PMID:22025579 PMID:22559933 More... NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619
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 ClinVar Annotator: match by term: Leber congenital amaurosis 3
ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, JUVENILE, SPATA7-RELATED
ClinVar Annotator: match by OMIM:604232
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19268277 PMID:20104588 More... NCBI chr 6:117,879,828...117,925,284
Ensembl chr 6:117,879,823...117,925,284
JBrowse link
Macular Dystrophy with Central Cone Involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Macular dystrophy with central cone involvement OMIM
ClinVar
PMID:16199547 PMID:17564970 PMID:19177532 PMID:19201763 PMID:21990111 More... NCBI chr 2:123,822,042...123,882,913
Ensembl chr 2:123,816,614...123,857,971
JBrowse link
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cwc27 CWC27 spliceosome associated cyclophilin ISO ClinVar Annotator: match by term: Metaphyseal chondrodysplasia with retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis pigmentosa with or without skeletal anomalies
ClinVar
OMIM
PMID:10420199 PMID:25741868 PMID:28285769 PMID:28492532 NCBI chr 2:35,764,674...35,975,908
Ensembl chr 2:35,764,686...35,975,872
JBrowse link
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl2 ADP-ribosylation factor like GTPase 2 ISO ClinVar Annotator: match by term: MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1 OMIM
ClinVar
PMID:30945270 NCBI chr 1:203,434,129...203,446,156
Ensembl chr 1:203,434,129...203,446,119
JBrowse link
NARP syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO DNA:missense mutation:cds:m.8993T>G, p.L156R (human)
ClinVar Annotator: match by term: NARP syndrome
ClinVar Annotator: match by term: Neuropathy ataxia retinitis pigmentosa syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:3612192 More... RGD:13825442 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
Newfoundland cone-rod dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Newfoundland rod-cone dystrophy
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:10102298 PMID:10102299 PMID:11449319 PMID:11868161 PMID:15953459 More... NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296
JBrowse link
Oliver-McFarlane syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome OMIM
ClinVar
PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:23733235 More... NCBI chr12:1,574,387...1,603,735
Ensembl chr12:1,560,363...1,603,734
JBrowse link
patterned macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnna1 catenin alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691986 NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910
JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human) RGD PMID:22893068 RGD:7394745 NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379
JBrowse link
G Mapkapk3 MAPK activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:107,929,754...107,963,638
Ensembl chr 8:107,929,762...107,963,568
JBrowse link
G Prph2 peripherin 2 ISO DNA:polymorphism:cds:p.Y141C(human)
ClinVar Annotator: match by term: Butterfly-shaped pigment dystrophy of the fovea
ClinVar Annotator: match by term: Patterned dystrophy of retinal pigment epithelium
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.G167D(human)
DNA:mutation:splice junction:
DNA:deletion,insertion:cds:
ClinVar
CTD
RGD
PMID:1684223 PMID:7493155 PMID:7825692 PMID:7880786 PMID:8015786 More... RGD:8553221, RGD:8554864, RGD:8553238, RGD:8553236 NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
JBrowse link
patterned macular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Macular dystrophy, patterned, 1 OMIM
ClinVar
PMID:1684223 PMID:7493155 PMID:7710395 PMID:7825692 PMID:7880786 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
JBrowse link
patterned macular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnna1 catenin alpha 1 ISO ClinVar Annotator: match by term: Macular dystrophy, patterned, 2 ClinVar
OMIM
PMID:5442145 PMID:25741868 PMID:26691986 PMID:28041643 PMID:28492532 NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910
JBrowse link
patterned macular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapkapk3 MAPK activated protein kinase 3 ISO ClinVar Annotator: match by term: MACULAR DYSTROPHY, PATTERNED, 3 ClinVar
OMIM
PMID:26744326 NCBI chr 8:107,929,754...107,963,638
Ensembl chr 8:107,929,762...107,963,568
JBrowse link
PHARC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd12 abhydrolase domain containing 12, lysophospholipase ISO ClinVar Annotator: match by term: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
ClinVar Annotator: match by OMIM:612674
OMIM
ClinVar
PMID:20797687 PMID:23806086 PMID:24088041 PMID:24697911 PMID:25741868 More... NCBI chr 3:139,659,315...139,719,529
Ensembl chr 3:139,659,317...139,719,564
JBrowse link
Posterior Column Ataxia with Retinitis Pigmentosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flvcr1 FLVCR heme transporter 1 ISO ClinVar Annotator: match by term: Posterior column ataxia with retinitis pigmentosa
ClinVar Annotator: match by OMIM:609033
OMIM
ClinVar
PMID:9409377 PMID:9855554 PMID:21070897 PMID:21267618 PMID:22279524 More... NCBI chr13:102,586,263...102,608,647
Ensembl chr13:102,586,257...102,608,661
JBrowse link
G Flvcr2 FLVCR heme transporter 2 ISO ClinVar Annotator: match by term: Posterior column ataxia with retinitis pigmentosa ClinVar PMID:20206334 PMID:20518025 PMID:25741868 PMID:28492532 NCBI chr 6:105,408,355...105,472,355
Ensembl chr 6:105,408,339...105,472,353
JBrowse link
Reticular Dystrophy of Retinal Pigment Epithelium term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba1 crystallin, beta A1 IMP mRNA:increased expression:retinal pigmented epithelium (rat) RGD PMID:21266465 RGD:126925759 NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726
JBrowse link
G Cryba1Nuc1Dbsa crystallin, beta A1;Nuc1 mutant, Dbsa IMP RGD PMID:21266465 RGD:126925759
Retinal Cone Dystrophy 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6h phosphodiesterase 6H ISO ClinVar Annotator: match by term: Retinal cone dystrophy 3A
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:15629837 PMID:22901948 PMID:25741868 PMID:27472364 PMID:28492532 NCBI chr 4:169,857,793...169,872,969
Ensembl chr 4:169,857,812...169,872,969
JBrowse link
Retinal Cone Dystrophy 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES
ClinVar Annotator: match by term: Cone dystrophy with night blindness and supernormal rod responses KCNV2 related
ClinVar Annotator: match by term: cone dystrophy with supernormal rod electroretinogram
ClinVar Annotator: match by term: Retinal cone dystrophy 3B
ClinVar Annotator: match by OMIM:610356
OMIM
ClinVar
PMID:8333273 PMID:16909397 PMID:17896311 PMID:18235024 PMID:18400204 More... NCBI chr 1:224,999,552...225,014,062
Ensembl chr 1:224,999,552...225,014,062
JBrowse link
Retinal Cone Dystrophy 4 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: Retinal cone dystrophy 4 OMIM
ClinVar
PMID:17033974 PMID:24033266 PMID:25741868 PMID:26002053 PMID:26218913 More... NCBI chr 4:152,408,657...152,524,614
Ensembl chr 4:152,408,657...152,521,268
JBrowse link
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir204 microRNA 204 ISO ClinVar Annotator: match by term: Retinal dystrophy and iris coloboma with or without congenital cataract OMIM
ClinVar
PMID:26056285 NCBI chr 1:220,316,931...220,317,040
Ensembl chr 1:220,316,931...220,317,040
JBrowse link
G Trpm3 transient receptor potential cation channel, subfamily M, member 3 ISO ClinVar Annotator: match by term: RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT ClinVar PMID:26056285 NCBI chr 1:219,673,200...220,557,610
Ensembl chr 1:219,672,892...220,560,717
JBrowse link
Retinal Dystrophy and Microvillus Inclusion Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stx3 syntaxin 3 ISO ClinVar Annotator: match by term: RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE OMIM
ClinVar
PMID:33974130 NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805
JBrowse link
Retinal Dystrophy and Obesity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ric3 RIC3 acetylcholine receptor chaperone ISO ClinVar Annotator: match by term: Retinal dystrophy and obesity ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:163,030,621...163,086,583
Ensembl chr 1:163,032,158...163,086,519
JBrowse link
G Tub TUB bipartite transcription factor ISO ClinVar Annotator: match by term: Retinal dystrophy and obesity OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 1:163,008,198...163,030,958
Ensembl chr 1:162,951,931...163,026,812
JBrowse link
RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities ClinVar
OMIM
PMID:24026677 NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
JBrowse link
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES ClinVar
OMIM
PMID:27486781 NCBI chr15:33,319,586...33,362,421
Ensembl chr15:33,319,586...33,365,302
JBrowse link
Retinal Dystrophy with or without Macular Staphyloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA
ClinVar Annotator: match by term: Retinal dystrophy with or without macular staphyloma
ClinVar
OMIM
PMID:25741868 PMID:26167768 PMID:26294103 PMID:26974433 PMID:27548899 More... NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737
JBrowse link
Retinal Dystrophy, Early Onset Severe 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: Retinal dystrophy, early-onset severe ClinVar PMID:9973280 PMID:10958761 PMID:11385708 PMID:24938718 PMID:25312043 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Retinal dystrophy, early-onset severe ClinVar PMID:17594715 PMID:18414213 PMID:22876109 PMID:25846608 PMID:28432734 More... NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
JBrowse link
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome
ClinVar Annotator: match by OMIM:615147
OMIM
ClinVar