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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:retinitis pigmentosa
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Accession:DOID:10584 term browser browse the term
Definition:A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. (DO)
Synonyms:exact_synonym: RP;   pericentral pigmentary retinopathy;   pigmentary retinopathies;   pigmentary retinopathy;   tapetoretinal degeneration;   tapetoretinal degenerations
 narrow_synonym: autosomal dominant retinitis pigmentosa;   autosomal recessive retinitis pigmentosa;   progressive retinal atrophy, type 3;   retinitis pigmentosa, dominant;   retinitis pigmentosa, dominant/recessive;   retinitis pigmentosa, recessive;   syndromic RP;   syndromic retinitis pigmentosa
 primary_id: MESH:D012174
 alt_id: OMIA:001455;   OMIA:001918;   OMIM:268000
 xref: GARD:5694;   ICD10CM:H35.52;   NCI:C85045;   OMIM:PS268000;   ORDO:791
For additional species annotation, visit the Alliance of Genome Resources.



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retinitis pigmentosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 susceptibility ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9054934 PMID:9295268 PMID:9466990 PMID:9536098 PMID:9781034 More... RGD:1598552, RGD:8547535 NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
JBrowse link
G Acan aggrecan treatment ISO RGD PMID:25646031 RGD:11570529 NCBI chr 1:132,981,034...133,044,416
Ensembl chr 1:132,981,582...133,043,627
JBrowse link
G Adam9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917
JBrowse link
G Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 NCBI chr19:41,686,951...41,840,035
Ensembl chr19:41,688,617...41,839,781
JBrowse link
G Adgra3 adhesion G protein-coupled receptor A3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:23105016 PMID:26355662 PMID:28492532 PMID:30718709 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: Retinitis pigmentosa ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30718709 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: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar PMID:25741868 PMID:28492532 PMID:31725702 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: Retinitis pigmentosa ClinVar PMID:15322546 PMID:16453322 PMID:21866095 PMID:24033266 PMID:25445212 More... NCBI chr 1:15,768,047...15,886,744
Ensembl chr 1:15,762,462...15,891,041
JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 treatment IEP protein:increased expression:nucleus: RGD PMID:23951212 RGD:10053563 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256
JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 treatment ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:10873396 PMID:11139241 PMID:12881340 PMID:14611946 PMID:15249368 More... RGD:8696011 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: Retinitis pigmentosa ClinVar PMID:25706677 PMID:25741868 PMID:25846608 PMID:28492532 PMID:30718709 NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
JBrowse link
G Arl2bp ADP-ribosylation factor like GTPase 2 binding protein ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:23849777 PMID:27790702 NCBI chr19:10,336,921...10,346,555
Ensembl chr19:10,336,921...10,346,564
JBrowse link
G Arl3 ADP ribosylation factor like GTPase 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820
JBrowse link
G Arl6 ADP-ribosylation factor like GTPase 6 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15314642 PMID:17160889 PMID:19236846 PMID:19858128 PMID:19956407 More... NCBI chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937
JBrowse link
G Atf6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26029869 NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177
JBrowse link
G B3gat3 beta-1,3-glucuronyltransferase 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:20335603 PMID:28492532 NCBI chr 1:205,817,374...205,823,928 JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 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: Retinitis pigmentosa ClinVar PMID:16582908 PMID:20120035 PMID:20498079 PMID:20805367 PMID:21209035 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: Retinitis pigmentosa ClinVar PMID:17160889 PMID:20120035 PMID:20498079 PMID:25741868 PMID:28492532 More... NCBI chr 2:120,203,396...120,221,024 JBrowse link
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:11285252 PMID:11567139 PMID:19402160 PMID:20120035 PMID:20177705 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: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607
JBrowse link
G Bbs7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:30718709 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: Retinitis pigmentosa ClinVar PMID:30718709 NCBI chr 8:21,013,865...21,437,934
Ensembl chr 8:21,013,944...21,437,930
JBrowse link
G Bcan brevican severity ISO RGD PMID:29150673 RGD:14392802 NCBI chr 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460
JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
ClinVar Annotator: match by null
ClinVar
RGD
PMID:10453731 PMID:10798642 PMID:10854112 PMID:11713080 PMID:14615048 More... RGD:8547535 NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
JBrowse link
G Ca4 carbonic anhydrase 4 susceptibility ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
ClinVar
RGD
PMID:7581389 PMID:9385361 PMID:9536098 PMID:15090652 PMID:15295099 More... RGD:1600730 NCBI chr10:69,827,945...69,836,501
Ensembl chr10:69,827,945...69,836,501
JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar PMID:25741868 PMID:30718709 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: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr 4:152,408,657...152,524,614
Ensembl chr 4:152,408,657...152,521,268
JBrowse link
G Casp7 caspase 7 ISO RGD PMID:23470535 RGD:8548491 NCBI chr 1:255,437,195...255,476,737
Ensembl chr 1:255,437,172...255,476,729
JBrowse link
G Cat catalase ISO RGD PMID:19293779 RGD:8158049 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Ccdc66 coiled-coil domain containing 66 ISS OMIM:268000 MouseDO NCBI chr16:2,662,125...2,694,031
Ensembl chr16:2,662,131...2,694,023
JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar
RGD
PMID:18429043 PMID:21228398 PMID:21569298 PMID:22135276 PMID:22995991 More... RGD:8547536 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: Retinitis pigmentosa ClinVar PMID:30718709 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: Retinitis pigmentosa ClinVar PMID:20087419 PMID:20805371 PMID:23044944 PMID:23591405 PMID:24033266 More... NCBI chr16:12,843,436...12,863,321
Ensembl chr16:12,843,437...12,863,396
JBrowse link
G Cep250 centrosomal protein 250 ISS MouseDO 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: Retinitis pigmentosa
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
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 Cerkl ceramide kinase-like susceptibility ISO DNA:mutation:exon
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar
RGD
PMID:14681825 PMID:15708351 PMID:16199547 PMID:18055789 PMID:20554613 More... RGD:1600829, RGD:1600829 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: Retinitis pigmentosa ClinVar PMID:25741868 PMID:26167768 PMID:26974433 PMID:27596865 PMID:28041643 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: Cone-Rod Dystrophy, Recessive
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22177090 PMID:25741868 PMID:26355662 PMID:26854863 PMID:27008867 More... 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: Retinitis pigmentosa ClinVar PMID:9067750 PMID:19422966 PMID:23811034 PMID:28492532 PMID:28559085 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: Retinitis pigmentosa ClinVar PMID:7553855 PMID:9311735 PMID:10332042 PMID:17947292 PMID:19132115 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 IAGP
ISO
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 PMID:15521980 More... RGD:634439, RGD:8547535 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: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:268000
ClinVar
CTD
RGD
PMID:7479749 PMID:12362048 PMID:18310263 PMID:24033266 PMID:24154662 More... RGD:1300380, RGD:8547535 NCBI chr14:35,566,947...35,605,065
Ensembl chr14:35,567,125...35,605,065
JBrowse link
G Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar
CTD
RGD
PMID:9536098 PMID:11379879 PMID:15557452 PMID:16199547 PMID:17576681 More... RGD:734793, RGD:8547535 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: Retinitis pigmentosa 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 Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr 9:38,711,726...38,750,942
Ensembl chr 9:38,711,710...38,750,942
JBrowse link
G Cntf ciliary neurotrophic factor disease_progression IEP associated with lens injury RGD PMID:24558606 RGD:40818112 NCBI chr 1:209,887,854...209,889,877
Ensembl chr 1:209,887,854...209,889,877
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
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 Crb1 crumbs cell polarity complex component 1 susceptibility ISO DNA:missense mutations
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutation:cds:multiple
ClinVar
CTD
RGD
PMID:9536098 PMID:10508521 PMID:11231775 PMID:11389483 PMID:12700176 More... RGD:1600966, RGD:8552697 NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261
JBrowse link
G Crb2 crumbs cell polarity complex component 2 ISO
ISS
OMIM:268000 MouseDO
RGD
PMID:24493795 RGD:8552786 NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294
JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:268000
ClinVar
CTD
RGD
PMID:9427255 PMID:9792858 PMID:10766140 PMID:11139241 PMID:11748859 More... RGD:8547535 NCBI chr 1:76,540,141...76,545,818
Ensembl chr 1:76,540,141...76,545,818
JBrowse link
G Cwc27 CWC27 spliceosome associated cyclophilin ISS MouseDO 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: Retinitis pigmentosa ClinVar PMID:9536098 PMID:16938425 PMID:17576681 PMID:20507925 PMID:23661369 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: Retinitis pigmentosa ClinVar PMID:24480711 PMID:28041643 NCBI chr16:46,917,929...46,958,735
Ensembl chr16:46,918,401...46,943,395
JBrowse link
G Dhdds dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar PMID:21295282 PMID:21295283 PMID:22110072 PMID:23590195 PMID:24033266 More... NCBI chr 5:146,198,359...146,224,479
Ensembl chr 5:146,197,457...146,224,454
JBrowse link
G Dhx38 DEAH-box helicase 38 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
ClinVar Annotator: match by term: Retinitis pigmentosa
CTD
ClinVar
PMID:25741868 PMID:30208423 NCBI chr19:37,512,891...37,530,140
Ensembl chr19:37,512,891...37,530,140
JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:32753734 NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183
JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:20005906 RGD:8661800 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa ClinVar PMID:23105016 NCBI chr 5:151,608,557...151,633,888
Ensembl chr 5:151,608,568...151,633,888
JBrowse link
G Eml3 EMAP like 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar NCBI chr 1:205,826,354...205,837,790
Ensembl chr 1:205,817,378...205,837,807
JBrowse link
G Epg5 ectopic P-granules autophagy protein 5 homolog ISS
ISO
ClinVar Annotator: match by term: Syndromic retinitis pigmentosa MouseDO
ClinVar
NCBI chr18:71,403,990...71,502,079
Ensembl chr18:71,404,010...71,501,502
JBrowse link
G Fam161a FAM161 centrosomal protein A ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar PMID:10507729 PMID:20705278 PMID:20705279 PMID:23167750 PMID:23591405 More... NCBI chr14:97,009,449...97,027,865
Ensembl chr14:97,009,491...97,028,588
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 treatment IDA RGD PMID:11319911 RGD:12801430 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Flvcr1 FLVCR heme transporter 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr13:102,586,263...102,608,647
Ensembl chr13:102,586,257...102,608,661
JBrowse link
G Fscn2 fascin actin-bundling protein 2, retinal ISO RGD PMID:11527955 RGD:1598962 NCBI chr10:105,634,783...105,641,322
Ensembl chr10:105,634,783...105,641,322
JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar Annotator: match by term: Retinitis pigmentosa
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
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671
JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:28492532 PMID:30718709 NCBI chr10:82,324,568...82,340,448
Ensembl chr10:82,337,771...82,340,448
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B IEP protein:decreased expression:outer plexiform layer of retina (rat) RGD PMID:11925013 RGD:13432034 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
ClinVar PMID:9425234 PMID:9651312 PMID:9702199 PMID:15505030 PMID:15953638 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: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:15452722 PMID:15505030 PMID:22025579 PMID:25741868 PMID:26161267 More... RGD:8547535 NCBI chr 9:13,599,619...13,607,455
Ensembl chr 9:13,599,619...13,607,455
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal susceptibility ISO DNA:mutation:exon
ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:10676808 PMID:11115851 PMID:11565546 PMID:12552567 PMID:16272259 More... RGD:1599624 NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
JBrowse link
G Hgf hepatocyte growth factor ISO protein:increased expression:vitreous humor: RGD PMID:20053975 RGD:8548602 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar PMID:17033958 PMID:19479962 PMID:20583299 PMID:25741868 PMID:25859010 More... NCBI chr16:66,105,233...66,137,444 JBrowse link
G Hk1 hexokinase 1 ISO DNA:mutation:cds:c.2539G>A,p.Glu847Lys(human)
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:30778173 PMID:25190649 RGD:13673896 NCBI chr20:30,230,488...30,332,161
Ensembl chr20:30,230,486...30,332,131
JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28058510 PMID:28412069 PMID:28492532 PMID:31456290 NCBI chr 8:54,971,694...54,991,085
Ensembl chr 8:54,971,740...54,991,084
JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
CTD
ClinVar
PMID:18806796 PMID:25741868 PMID:28492532 NCBI chr 3:117,481,845...117,486,909
Ensembl chr 3:117,481,845...117,486,982
JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:26216056 PMID:26497376 PMID:28041643 PMID:28492532 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: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar PMID:11030072 PMID:24140113 PMID:25664603 PMID:25741868 PMID:28492532 NCBI chr 6:25,081,933...25,121,271 JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO DNA:missense mutation: :p.D226N, p.V268I (human)
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.R224P (human)
human gene in mouse model
ClinVar
CTD
RGD
PMID:11875050 PMID:16384941 PMID:20045992 PMID:20718729 PMID:24244438 More... RGD:1599608, RGD:5144221, RGD:5144134 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: Retinitis pigmentosa ClinVar PMID:25741868 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 null
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar PMID:20673862 PMID:22277662 PMID:24938718 PMID:25085631 PMID:25741868 More... NCBI chr11:44,318,836...44,418,382
Ensembl chr11:44,318,836...44,418,382
JBrowse link
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:22261762 PMID:22773737 PMID:28492532 PMID:30718709 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: Retinitis Pigmentosa, Recessive
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar PMID:25741868 PMID:28041643 PMID:28492532 NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715
JBrowse link
G Itprid2 ITPR interacting domain containing 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:28041643 NCBI chr 3:64,536,707...64,573,978
Ensembl chr 3:64,536,707...64,573,978
JBrowse link
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Syndromic retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar PMID:25741868 PMID:32214227 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: Retinitis pigmentosa 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 Kl Klotho ISO
IEP
protein:increased expression:retina,photoreceptor,nucleus: RGD PMID:23796581 PMID:23796581 RGD:10403060, RGD:10403060 NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
JBrowse link
G Klb klotho beta ISO protein:increased expression:outer nuclear layer: RGD PMID:23796581 RGD:10403060 NCBI chr14:42,899,050...42,950,788 JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar PMID:19520207 PMID:21828050 PMID:25741868 PMID:27160483 PMID:28041643 More... NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
JBrowse link
G Krtcap3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:11030072 PMID:24140113 PMID:25664603 PMID:25741868 PMID:28492532 NCBI chr 6:25,120,938...25,122,522
Ensembl chr 6:25,120,938...25,122,507
JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar NCBI chr19:11,603,129...12,048,930
Ensembl chr19:11,603,129...12,048,930
JBrowse link
G Lca5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:17546029 PMID:23946133 PMID:24265693 PMID:25741868 PMID:28492532 More... NCBI chr 8:84,307,696...84,375,025
Ensembl chr 8:84,317,659...84,374,956
JBrowse link
G Lrat lecithin retinol acyltransferase ISO early-onset severe retinal dystrophy, OMIM:604863
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:268000
ClinVar
CTD
RGD
PMID:22025579 PMID:25741868 PMID:26355662 PMID:28492532 PMID:30054919 More... RGD:1599754, RGD:8547535 NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619
JBrowse link
G Mak male germ cell-associated kinase ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
ClinVar PMID:21148103 PMID:21825139 PMID:21835304 PMID:24938718 PMID:25324289 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 null
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9536098 PMID:11062461 PMID:11592982 PMID:15111602 PMID:16199547 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 DNA:deletio:exon:c.498delC(P.166PfsX26)(human) RGD PMID:22605927 RGD:11553921 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: Retinitis pigmentosa ClinVar PMID:25333361 PMID:28041643 PMID:28492532 PMID:28586915 NCBI chr 2:123,822,042...123,882,913
Ensembl chr 2:123,816,614...123,857,971
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:30718709 NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
JBrowse link
G Mt2A metallothionein 2A IEP
ISO
mRNA:increased expression:retina (rat)
mRNA:increased expression:retina (mouse)
RGD PMID:20357188 PMID:20357188 RGD:6483819, RGD:6483819 NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by null
ClinVar
RGD
PMID:8900236 PMID:10094549 PMID:19074810 PMID:24033266 PMID:25404053 More... RGD:8547536 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
JBrowse link
G Neurod1 neuronal differentiation 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:28041643 NCBI chr 3:64,360,222...64,363,526
Ensembl chr 3:64,359,395...64,363,649
JBrowse link
G Ngf nerve growth factor IEP protein:decreased expression:lacrimal gland RGD PMID:20595895 RGD:4891133 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 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 null
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
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 DNA:missense mutation:cds:p.S50L (human)
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar
CTD
RGD
PMID:10192380 PMID:12796249 PMID:15591106 PMID:17335001 PMID:23534816 More... RGD:1580991 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: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr  X:9,280,864...9,301,900
Ensembl chr  X:9,280,864...9,301,900
JBrowse link
G Ofd1 OFD1, centriole and centriolar satellite protein ISO DNA, mRNA:frameshift mutation, splice variant:IVS9+706A>G (human) RGD PMID:22619378 RGD:11535961 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110
JBrowse link
G P3h2 prolyl 3-hydroxylase 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar NCBI chr11:74,634,267...74,775,422
Ensembl chr11:74,634,267...74,775,421
JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:11479594 PMID:12510040 PMID:15659606 PMID:15834858 PMID:16272150 More... 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 null
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar PMID:20398884 PMID:20398886 PMID:20811058 PMID:21412943 PMID:23105016 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: Retinitis pigmentosa ClinVar
RGD
PMID:9536098 PMID:17576681 PMID:28492532 PMID:30718709 PMID:20212494 RGD:8547536 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: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:7493036 PMID:10393062 PMID:16199547 PMID:17110911 PMID:18723146 More... RGD:8547535 NCBI chr18:54,676,863...54,749,644
Ensembl chr18:54,676,863...54,748,816
JBrowse link
G Pde6b phosphodiesterase 6B ISO
IMP
ClinVar Annotator: match by term: Retinitis pigmentosa
compared to wild-type
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar
CTD
RGD
PMID:7724547 PMID:8394174 PMID:8595886 PMID:9238087 PMID:9536098 More... RGD:8657407, RGD:40924664 NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
JBrowse link
G Pde6bem1Baek phosphodiesterase 6B; Cpf1-CRISPR induced mutant1, Baek IMP compared to wild-type RGD PMID:31009522 RGD:40924664
G Pde6g phosphodiesterase 6G ISO ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar
CTD
RGD
PMID:20655036 PMID:25741868 PMID:28492532 PMID:23701314 RGD:8547535 NCBI chr10:105,721,502...105,727,204 JBrowse link
G Phf3 PHD finger protein 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
ClinVar PMID:18976725 PMID:20237254 PMID:20333770 PMID:20537394 PMID:21069908 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: Retinitis pigmentosa ClinVar PMID:1155634 PMID:9326939 PMID:9326940 PMID:9657395 PMID:10767344 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: Retinitis pigmentosa 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
G Poc5 POC5 centriolar protein ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:29272404 NCBI chr 2:27,719,745...27,748,805
Ensembl chr 2:27,719,762...27,748,805
JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:9425237 PMID:9664077 PMID:10191107 PMID:10649502 PMID:11073228 More... NCBI chr 5:135,121,176...135,141,076
Ensembl chr 5:135,121,163...135,142,048
JBrowse link
G Prcd photoreceptor disc component ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar PMID:9536098 PMID:16938425 PMID:17576681 PMID:20507925 PMID:23661369 More... NCBI chr10:101,887,192...101,907,647 JBrowse link
G Prkcg protein kinase C, gamma ISO RGD PMID:9545390 RGD:737791 NCBI chr 1:65,832,851...65,860,676
Ensembl chr 1:65,832,855...65,859,384
JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive
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: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
ClinVar
RGD
PMID:11773002 PMID:15085354 PMID:17932117 PMID:20309403 PMID:20811066 More... RGD:1599535 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: Retinitis pigmentosa
ClinVar Annotator: match by null
ClinVar
RGD
PMID:16799052 PMID:19506198 PMID:23288994 PMID:25741868 PMID:28041643 More... RGD:8547535 NCBI chr 1:65,575,887...65,587,561
Ensembl chr 1:65,575,887...65,587,873
JBrowse link
G Prpf6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
ClinVar 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: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
ClinVar
RGD
PMID:9536098 PMID:11468273 PMID:12714658 PMID:16799052 PMID:17576681 More... RGD:1599210, RGD:8547535 NCBI chr10:60,331,494...60,354,606
Ensembl chr10:60,331,494...60,354,606
JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
ClinVar Annotator: match by null
DNA:mutation:cds:p.V200E(human)
DNA:mutation:cds:p.N244K(human)
DNA:polymorphism:cds:p.F211L(human)
DNA:polymprphism:cds:p.P216L(mouse)
DNA:deletion,missense mutations:cds:p.P216L,L185P(human)
DNA:polymorphism:exon:p.E304Q,G338D(human)
DNA:polymprphism: :p.P216L(human)
DNA:polymorphism:: c.389T>C (p.L130P)(human)
ClinVar
RGD
PMID:1684223 PMID:7493155 PMID:7754251 PMID:8015786 PMID:8019570 More... RGD:8547535, RGD:8554861, RGD:8554860, RGD:8553237, RGD:8553235, RGD:8553234, RGD:8553222, RGD:8553218, RGD:8553216, RGD:8553188 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 DNA:missense mutation:exon:p.S16P (human) RGD PMID:25491489 RGD:11056008 NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187
JBrowse link
G Pten phosphatase and tensin homolog onset IEP mRNA:increased expression:retina (rat) RGD PMID:22432009 RGD:12802340 NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Rab28 RAB28, member RAS oncogene family ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:30718709 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: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:19074801 PMID:21067480 PMID:23105016 PMID:23486466 PMID:24963161 More... RGD:8547535 NCBI chr16:9,267,538...9,276,006
Ensembl chr16:9,267,538...9,276,006
JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:27486781 PMID:28492532 NCBI chr15:33,319,586...33,362,421
Ensembl chr15:33,319,586...33,365,302
JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar
CTD
RGD
PMID:15258582 PMID:15322982 PMID:16269441 PMID:16968212 PMID:17389517 More... RGD:8547535 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: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr 7:1,340,545...1,347,361 JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa ClinVar PMID:29120066 NCBI chr 7:9,373,927...9,380,845
Ensembl chr 7:9,373,927...9,380,597
JBrowse link
G RGD1306271 similar to KIAA1549 protein ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr 4:66,840,674...66,968,407
Ensembl chr 4:66,760,162...66,968,436
JBrowse link
G Rgr retinal G protein coupled receptor ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:10581022 PMID:16968212 PMID:24265693 PMID:28492532 PMID:10581022 RGD:1599623 NCBI chr16:12,801,594...12,816,402
Ensembl chr16:12,801,594...12,816,223
JBrowse link
G Rho rhodopsin treatment ISO DNA:point mutation:exon:P23H, P347L, P347S, T58R
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
DNA:missense mutation:exon:p.C110Y (human)
DNA:missense mutations:cds:505G>C (p.A169P), 1040C>A (p.P347Q) (human)
DNA:missense mutation: :p.Y110C (mouse)
DNA:missense mutation:cds:c.448G>A (p.E150K) (human)
DNA:missense mutation: :p.T17M (human)
DNA:missense mutation:cds:c.233A>T (p.N78I) (human)
DNA:deletion:exon:c.614_622del (p.Y206_F208del) (human)
ClinVar
CTD
RGD
PMID:1301135 PMID:1303237 PMID:1484692 PMID:1580841 PMID:1765377 More... RGD:1601619, RGD:8548552, RGD:8548543, RGD:8548518, RGD:8548516, RGD:8548515, RGD:8548514, RGD:8548513, RGD:8548512, RGD:8548491, RGD:8548490, RGD:8547992, RGD:8547991, RGD:8547535 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: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr 9:24,696,959...25,196,368
Ensembl chr 9:24,698,854...25,196,631
JBrowse link
G Ripk1 receptor interacting serine/threonine kinase 1 ISO RGD PMID:22908283 RGD:7777166 NCBI chr17:30,839,639...30,871,824
Ensembl chr17:30,839,650...30,871,824
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ISO RGD PMID:22908283 RGD:7777166 NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121
JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO bothnia dystrophy, OMIM:180090
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar
RGD
PMID:9326942 PMID:10102298 PMID:10102299 PMID:11449319 PMID:11453974 More... RGD:1599618, RGD:8547535 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 OMIM:268000
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:7904211 PMID:8202715 PMID:8595413 PMID:9187681 PMID:9331261 More... 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: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
ClinVar Annotator: match by null
ClinVar
RGD
PMID:10484783 PMID:10845615 PMID:11095597 PMID:11139241 PMID:11317367 More... RGD:8547535 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 null
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar PMID:22277662 PMID:26355662 PMID:31833436 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: Retinitis pigmentosa
ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar
RGD
PMID:9697692 PMID:10053026 PMID:10090907 PMID:10862093 PMID:10937588 More... RGD:1599605 NCBI chr  X:1,872,581...1,916,704
Ensembl chr  X:1,873,306...1,916,688
JBrowse link
G Rp9 RP9, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar PMID:1479605 PMID:12032732 PMID:15474994 PMID:15541726 PMID:16671097 More... NCBI chr 8:20,955,447...21,005,225
Ensembl chr 8:20,941,362...21,005,175
JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 treatment ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
DNA:missense mutation:cds:p.D477G (human)
ClinVar
CTD
RGD
PMID:9501220 PMID:10090910 PMID:10766140 PMID:10937591 PMID:11095629 More... RGD:8547535, RGD:9585650, RGD:9585645 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: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar
CTD
RGD
PMID:8817343 PMID:10094550 PMID:10932196 PMID:11992260 PMID:12920075 More... RGD:1599602, RGD:8547535, RGD:1599600, RGD:1599605 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: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:11528500 PMID:16272259 PMID:23105016 PMID:25741868 PMID:28041643 More... RGD:1599581 NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
JBrowse link
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9501883 PMID:9565049 PMID:18175313 PMID:20981092 PMID:22995991 More... RGD:8547535 NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820
JBrowse link
G Samd11 sterile alpha motif domain containing 11 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:166,831,663...166,859,805
Ensembl chr 5:166,831,663...166,850,009
JBrowse link
G Scaper S-phase cyclin A-associated protein in the ER ISO ClinVar Annotator: match by term: Syndromic retinitis pigmentosa ClinVar PMID:28794130 PMID:32214227 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 Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
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
G Serpinf1 serpin family F member 1 treatment ISO human gene in a rat model RGD PMID:18837062 RGD:8554900 NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 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: Retinitis pigmentosa 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 Slc6a6 solute carrier family 6 member 6 ISS OMIM:268000 MouseDO NCBI chr 4:124,195,186...124,268,880
Ensembl chr 4:124,195,218...124,268,875
JBrowse link
G Smim27 small integral membrane protein 27 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant ClinVar NCBI chr 5:55,398,696...55,400,308 JBrowse link
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
DNA:missense mutation:cds:p.R1090L (human)
DNA:missense mutation:cds:p.S1087V (human)
ClinVar
RGD
PMID:16612614 PMID:19878916 PMID:21618346 PMID:23887765 PMID:24302620 More... RGD:10448280, RGD:10448279 NCBI chr 3:114,428,854...114,458,194
Ensembl chr 3:114,428,854...114,458,182
JBrowse link
G Snx17 sorting nexin 17 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant ClinVar NCBI chr 6:25,177,528...25,183,001
Ensembl chr 6:25,177,391...25,183,030
JBrowse link
G Sod1 superoxide dismutase 1 severity ISO human gene in a mouse model RGD PMID:21736939 PMID:19293779 RGD:8655617, RGD:8158049 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:19293779 RGD:8158049 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Spata7 spermatogenesis associated 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
CTD
ClinVar
PMID:9536098 PMID:17576681 PMID:19268277 PMID:25741868 PMID:26355662 More... NCBI chr 6:117,879,828...117,925,284
Ensembl chr 6:117,879,823...117,925,284
JBrowse link
G Tfpt TCF3 fusion partner ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant ClinVar NCBI chr 1:65,587,855...65,597,407
Ensembl chr 1:65,582,359...65,611,689
JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Pigmentary retinopathy
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
ClinVar PMID:18509552 PMID:19373681 PMID:22334370 PMID:25741868 PMID:28041643 More... 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: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr 1:117,718,896...117,835,434
Ensembl chr 1:117,718,896...117,834,605
JBrowse link
G Ttc8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar PMID:14520415 PMID:16308660 PMID:25097241 PMID:25741868 PMID:28492532 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: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr 6:105,483,091...105,700,920
Ensembl chr 6:105,483,191...105,700,934
JBrowse link
G Ttpa alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10896705 NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073
JBrowse link
G Tulp1 TUB like protein 1 ISO RP14,OMIM:600132;DNA:point mutations:exon:R420P, F491L,I459K
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar Annotator: match by null
ClinVar
RGD
PMID:8606774 PMID:9462750 PMID:9536098 PMID:9660588 PMID:10440267 More... RGD:1624352, RGD:8547535 NCBI chr20:6,412,170...6,424,312
Ensembl chr20:6,412,171...6,424,073
JBrowse link
G Unc119 unc-119 lipid binding chaperone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11006213 NCBI chr10:63,237,862...63,243,339
Ensembl chr10:63,237,903...63,243,339
JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar
RGD
PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 More... RGD:8547536 NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671
JBrowse link
G Ush1g USH1 protein network component sans ISO RGD PMID:20212494 RGD:8547536 NCBI chr10:100,559,721...100,563,590
Ensembl chr10:100,557,629...100,563,590
JBrowse link
G Ush2a usherin susceptibility ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
DNA:missense mutation:cds:p.C759F (human)
DNA:snps, deletions, insertion:multiple (human)
DNA:missense mutation, snp:cds, intron:p.G1734R, g.IVS32+1G>A (human)
ClinVar
CTD
RGD
PMID:1968399 PMID:9536098 PMID:9624053 PMID:10090909 PMID:10729113 More... RGD:8547535, RGD:8547967, RGD:8547966, RGD:8547963 NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:eye: RGD PMID:18326689 RGD:7483592 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar NCBI chr 6:104,214,842...104,240,264
Ensembl chr 6:104,217,230...104,240,018
JBrowse link
G Wdr19 WD repeat domain 19 ISO DNA:missense mutation:cds:p.L710S (human)
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar
RGD
PMID:25741868 PMID:28492532 PMID:23683095 RGD:11552600 NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
JBrowse link
G Zdhhc24 zinc finger, DHHC-type containing 24 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 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: Retinitis Pigmentosa, Dominant
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar PMID:20227676 PMID:20797688 PMID:25741868 PMID:28492532 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: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar PMID:15258582 PMID:15322982 PMID:16269441 PMID:17389517 PMID:17512964 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: Autosomal recessive retinitis pigmentosa ClinVar PMID:28095122 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
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 ClinVar Annotator: match by term: Benign concentric annular macular dystrophy OMIM
ClinVar
PMID:32817297 NCBI chr 8:81,243,624...81,389,722
Ensembl chr 8:81,243,624...81,389,722
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 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 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 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 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
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
Hardikar Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Cholestasis-pigmentary retinopathy-cleft palate syndrome ClinVar PMID:25741868 NCBI chr  X:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387
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
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
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
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
retinitis pigmentosa 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rp1 RP1, axonemal microtubule associated ISO ClinVar Annotator: match by term: Retinitis pigmentosa 1
ClinVar Annotator: match by OMIM:180100
ClinVar Annotator: match by null
OMIM
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
retinitis pigmentosa 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Impdh1 inosine monophosphate dehydrogenase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 10
ClinVar Annotator: match by OMIM:180105
OMIM
ClinVar
PMID:11875049 PMID:11875050 PMID:15851576 PMID:15882147 PMID:16671097 More... NCBI chr 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076
JBrowse link
retinitis pigmentosa 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prpf31 pre-mRNA processing factor 31 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 11
ClinVar Annotator: match by OMIM:600138
OMIM
ClinVar
PMID:5764686 PMID:8025041 PMID:8808602 PMID:9345108 PMID:11545739 More... NCBI chr 1:65,575,887...65,587,561
Ensembl chr 1:65,575,887...65,587,873
JBrowse link
retinitis pigmentosa 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspm assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Retinitis pigmentosa 12 ClinVar PMID:10508521 PMID:17964524 PMID:22065545 PMID:23379534 PMID:25412400 More... NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 12
ClinVar Annotator: match by OMIM:600105
OMIM
ClinVar
PMID:1389483 PMID:1427914 PMID:2906847 PMID:8069649 PMID:9536098 More... NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261
JBrowse link
G Dennd1b DENN domain containing 1B ISO ClinVar Annotator: match by term: Retinitis pigmentosa 12 ClinVar PMID:10508521 PMID:17964524 PMID:22065545 PMID:23379534 PMID:25412400 More... NCBI chr13:50,545,324...50,772,922
Ensembl chr13:50,545,836...50,770,601
JBrowse link
G F13b coagulation factor XIII B chain ISO ClinVar Annotator: match by term: Retinitis pigmentosa 12 ClinVar PMID:10508521 PMID:17964524 PMID:22065545 PMID:23379534 PMID:25412400 More... NCBI chr13:51,130,851...51,156,383
Ensembl chr13:51,130,920...51,156,381
JBrowse link
G Zbtb41 zinc finger and BTB domain containing 41 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 12 ClinVar PMID:10508521 PMID:17964524 PMID:22065545 PMID:23379534 PMID:25412400 More... NCBI chr13:51,042,948...51,065,768
Ensembl chr13:51,042,948...51,065,768
JBrowse link
retinitis pigmentosa 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 13
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:600059
OMIM
ClinVar
PMID:11468273 PMID:12714658 PMID:16799052 PMID:17061239 PMID:18695108 More... NCBI chr10:60,331,494...60,354,606
Ensembl chr10:60,331,494...60,354,606
JBrowse link
retinitis pigmentosa 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 14 ClinVar NCBI chr10:60,331,494...60,354,606
Ensembl chr10:60,331,494...60,354,606
JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 14
ClinVar Annotator: match by OMIM:600132
OMIM
ClinVar
PMID:8606774 PMID:9462750 PMID:9462751 PMID:9536098 PMID:9660588 More... NCBI chr20:6,412,170...6,424,312
Ensembl chr20:6,412,171...6,424,073
JBrowse link
retinitis pigmentosa 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ca4 carbonic anhydrase 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 17 ClinVar PMID:7581389 PMID:9385361 PMID:15090652 PMID:15295099 PMID:15563508 More... NCBI chr10:69,827,945...69,836,501
Ensembl chr10:69,827,945...69,836,501
JBrowse link
retinitis pigmentosa 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prpf3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by OMIM:601414
ClinVar Annotator: match by term: Retinitis pigmentosa 18
ClinVar
OMIM
PMID:11773002 PMID:15085354 PMID:17932117 PMID:18412284 PMID:20309403 More... NCBI chr 2:183,379,041...183,403,526
Ensembl chr 2:183,378,718...183,403,489
JBrowse link
retinitis pigmentosa 19 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: Retinitis pigmentosa 19
ClinVar Annotator: match by OMIM:601718
OMIM
ClinVar
PMID:9054934 PMID:9070931 PMID:9295268 PMID:9425888 PMID:9466990 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
JBrowse link
retinitis pigmentosa 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl3 ADP ribosylation factor like GTPase 3 ISS OMIM:312600 MouseDO NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820
JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Retinitis pigmentosa 2
ClinVar Annotator: match by OMIM:312600
OMIM
ClinVar
PMID:9536098 PMID:9697692 PMID:10053026 PMID:10090907 PMID:10520237 More... NCBI chr  X:1,872,581...1,916,704
Ensembl chr  X:1,873,306...1,916,688
JBrowse link
retinitis pigmentosa 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 20 OMIM
ClinVar
PMID:9326927 PMID:9326941 PMID:9501220 PMID:9536098 PMID:9843205 More... NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
JBrowse link
retinitis pigmentosa 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ofd1 OFD1, centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Retinitis Pigmentosa 23 ClinVar
OMIM
PMID:10892847 PMID:22619378 PMID:25741868 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110
JBrowse link
retinitis pigmentosa 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phf3 PHD finger protein 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 25
ClinVar Annotator: match by term: Retinitis pigmentosa type 25
ClinVar PMID:18976725 PMID:20237254 PMID:20333770 PMID:20537394 PMID:21069908 More... NCBI chr 9:33,063,855...33,136,013
Ensembl chr 9:33,063,857...33,135,994
JBrowse link
retinitis pigmentosa 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cerkl ceramide kinase-like ISO ClinVar Annotator: match by term: Retinitis pigmentosa 26
ClinVar Annotator: match by term: Retinitis pigmentosa type 26
ClinVar Annotator: match by OMIM:608380
OMIM
ClinVar
PMID:14681825 PMID:15708351 PMID:16199547 PMID:18978954 PMID:20554613 More... NCBI chr 3:64,238,714...64,344,695
Ensembl chr 3:64,237,522...64,340,675
JBrowse link
G Itga4 integrin subunit alpha 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 26 ClinVar PMID:25741868 NCBI chr 3:64,162,764...64,235,010
Ensembl chr 3:64,163,085...64,233,715
JBrowse link
retinitis pigmentosa 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Retinitis pigmentosa 27
ClinVar Annotator: match by OMIM:613750
OMIM
ClinVar
PMID:10192380 PMID:11039579 PMID:11385710 PMID:11879142 PMID:12796249 More... NCBI chr15:29,008,104...29,009,832
Ensembl chr15:29,008,104...29,009,832
JBrowse link
retinitis pigmentosa 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam161a FAM161 centrosomal protein A ISO ClinVar Annotator: match by term: Retinitis pigmentosa 28
ClinVar Annotator: match by term: Retinitis pigmentosa type 28
OMIM
ClinVar
PMID:10507729 PMID:20705278 PMID:20705279 PMID:23167750 PMID:23591405 More... NCBI chr14:97,009,449...97,027,865
Ensembl chr14:97,009,491...97,028,588
JBrowse link
retinitis pigmentosa 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap47 cilia and flagella associated protein 47 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:43,264,687...43,616,607
Ensembl chr  X:43,263,490...43,616,852
JBrowse link
G Cybb cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:13,360,583...13,392,517
Ensembl chr  X:13,359,430...13,392,586
JBrowse link
G Dynlt3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:13,327,933...13,337,139
Ensembl chr  X:13,327,892...13,337,139
JBrowse link
G H2ap H2A.P histone ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:12,907,962...12,908,516 JBrowse link
G Iqcb1 IQ motif containing B1 severity ISO RGD PMID:22183348 PMID:21857984 RGD:11352374, RGD:11537386 NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
JBrowse link
G Lancl3 LanC like 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:13,480,753...13,609,678
Ensembl chr  X:13,480,311...13,609,678
JBrowse link
G Mageb16 MAGE family member B16 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:43,693,205...43,725,664
Ensembl chr  X:43,693,211...43,725,657
JBrowse link
G Otc ornithine transcarbamylase ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918
JBrowse link
G Prrg1 proline rich and Gla domain 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:42,494,256...42,606,612
Ensembl chr  X:42,494,256...42,606,588
JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar PMID:9536098 PMID:17576681 PMID:20625056 PMID:23150612 PMID:25741868 More... NCBI chr  X:1,872,581...1,916,704
Ensembl chr  X:1,873,306...1,916,688
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15
ClinVar Annotator: match by OMIM:300029
DNA:deletions:exon:p.E746RfsX768, p.E802GfsX833, p.T801TfsX813 (human)
DNA:deletion:exon:g.48061-48064delAAGT (human)
DNA:nonsense mutation:exon:p.G52X (human)
DNA:missense mutation:exon:p.G60V (human)
DNA:transversion:intron:IVS5+1G>T (human)
DNA:duplication:exon:?-?+32dup (mouse)
DNA:frameshift mutation:exon:c.2919delA (human)
DNA:deletion, nonsense mutation:exons:c.1536delC, p.E332X (human)
DNA:mutations:multiple (human)
OMIM
ClinVar
RGD
PMID:7611300 PMID:8673101 PMID:8817343 PMID:9326322 PMID:9399904 More... RGD:8553233, RGD:8553228, RGD:8553210, RGD:8553208, RGD:8553206, RGD:8553204, RGD:8553202, RGD:8553198, RGD:8553196, RGD:8553229 NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882
JBrowse link
G Rpgrip1l Rpgrip1-like severity ISO DNA:polymorphism:cds:p.R744Q (rs2302677)(human) RGD PMID:22183348 RGD:11352374 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
JBrowse link
G Srpx sushi-repeat-containing protein, X-linked ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:12,676,984...12,751,296 JBrowse link
G Sytl5 synaptotagmin-like 5 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:12,775,529...13,030,134
Ensembl chr  X:12,788,698...13,030,175
JBrowse link
G Tspan7 tetraspanin 7 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:12,208,783...12,306,160
Ensembl chr  X:12,208,783...12,306,131
JBrowse link
G Xk X-linked Kx blood group ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:13,436,412...13,472,830
Ensembl chr  X:13,436,418...13,472,830
JBrowse link
retinitis pigmentosa 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fscn2 fascin actin-bundling protein 2, retinal ISO ClinVar Annotator: match by term: Retinitis pigmentosa 30 OMIM
ClinVar
PMID:11527955 PMID:14609921 PMID:15994872 PMID:16280978 PMID:16799052 More... NCBI chr10:105,634,783...105,641,322
Ensembl chr10:105,634,783...105,641,322
JBrowse link
retinitis pigmentosa 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Retinitis pigmentosa 31
ClinVar Annotator: match by OMIM:609923
OMIM
ClinVar
PMID:16189705 PMID:17924349 PMID:25741868 PMID:28492532 NCBI chr 5:55,388,033...55,399,937
Ensembl chr 5:55,387,632...55,399,937
JBrowse link
retinitis pigmentosa 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcc1 chloride channel CLIC-like 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 32 OMIM
ClinVar
PMID:16189710 PMID:30157172 NCBI chr 2:196,296,350...196,326,914
Ensembl chr 2:196,296,393...196,326,913
JBrowse link
retinitis pigmentosa 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 33
ClinVar Annotator: match by OMIM:610359
OMIM
ClinVar
PMID:16612614 PMID:19710410 PMID:19878916 PMID:21618346 PMID:23029027 More... NCBI chr 3:114,428,854...114,458,194
Ensembl chr 3:114,428,854...114,458,182
JBrowse link
retinitis pigmentosa 35 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: Retinitis pigmentosa 35
ClinVar Annotator: match by OMIM:610282
OMIM
ClinVar
PMID:16199541 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:173,896,432...173,917,903
Ensembl chr 2:173,896,439...173,914,442
JBrowse link
retinitis pigmentosa 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cygb cytoglobin ISO ClinVar Annotator: match by term: Retinitis pigmentosa 36 ClinVar PMID:16938425 PMID:20507925 PMID:23661369 PMID:25741868 PMID:28492532 More... NCBI chr10:101,877,675...101,887,442
Ensembl chr10:101,877,676...101,887,442
JBrowse link
G Prcd photoreceptor disc component ISO ClinVar Annotator: match by term: Retinitis pigmentosa 36
ClinVar Annotator: match by OMIM:610599
OMIM
ClinVar
PMID:16938425 PMID:20507925 PMID:23661369 PMID:25741868 PMID:28492532 More... NCBI chr10:101,887,192...101,907,647 JBrowse link
retinitis pigmentosa 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 37
ClinVar Annotator: match by null
OMIM
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
retinitis pigmentosa 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mertk MER proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: Retinitis pigmentosa 38
ClinVar Annotator: match by OMIM:613862
OMIM
ClinVar
PMID:11062461 PMID:11592982 PMID:11727200 PMID:15111602 PMID:16199547 More... NCBI chr 3:115,939,351...116,045,141
Ensembl chr 3:115,939,351...116,046,554
JBrowse link
retinitis pigmentosa 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ush2a usherin ISO ClinVar Annotator: match by term: Retinitis pigmentosa 39
ClinVar Annotator: match by OMIM:613809
OMIM
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
retinitis pigmentosa 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rho rhodopsin ISO ClinVar Annotator: match by term: Retinitis pigmentosa 4
ClinVar Annotator: match by term: Retinitis pigmentosa 4, autosomal recessive
ClinVar Annotator: match by OMIM:613731
OMIM
ClinVar
PMID:1301135 PMID:1302614 PMID:1303237 PMID:1356370 PMID:1418997 More... NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
JBrowse link
retinitis pigmentosa 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Retinitis pigmentosa 40
ClinVar Annotator: match by OMIM:613801
OMIM
ClinVar
PMID:7599633 PMID:7724547 PMID:8394174 PMID:8595886 PMID:9536098 More... NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
JBrowse link
retinitis pigmentosa 41 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: Retinitis pigmentosa 41
ClinVar Annotator: match by OMIM:612095
OMIM
ClinVar
PMID:10205271 PMID:10587575 PMID:16199547 PMID:17605048 PMID:19718270 More... NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527
JBrowse link
retinitis pigmentosa 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 42
ClinVar Annotator: match by OMIM:612943
OMIM
ClinVar
PMID:1872134 PMID:19520207 PMID:21828050 PMID:22084217 PMID:25741868 More... NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
JBrowse link
retinitis pigmentosa 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6a phosphodiesterase 6A ISO ClinVar Annotator: match by term: Retinitis pigmentosa 43
ClinVar Annotator: match by OMIM:613810
OMIM
ClinVar
PMID:7493036 PMID:10393062 PMID:17110911 PMID:18849587 PMID:21039428 More... NCBI chr18:54,676,863...54,749,644
Ensembl chr18:54,676,863...54,748,816
JBrowse link
retinitis pigmentosa 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rgr retinal G protein coupled receptor ISO ClinVar Annotator: match by term: Retinitis pigmentosa 44 OMIM
ClinVar
PMID:9536098 PMID:10581022 PMID:17576681 PMID:25741868 PMID:27623334 More... NCBI chr16:12,801,594...12,816,402
Ensembl chr16:12,801,594...12,816,223
JBrowse link
retinitis pigmentosa 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 45
ClinVar Annotator: match by OMIM:613767
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:11379879 PMID:15557452 PMID:16199547 PMID:21147909 PMID:21987686 More... NCBI chr19:9,726,595...9,791,111
Ensembl chr19:9,726,595...9,791,173
JBrowse link
retinitis pigmentosa 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO ClinVar Annotator: match by term: Retinitis pigmentosa 46
ClinVar Annotator: match by OMIM:612572
OMIM
ClinVar
PMID:18806796 PMID:25741868 PMID:28492532 NCBI chr 3:117,481,845...117,486,909
Ensembl chr 3:117,481,845...117,486,982
JBrowse link
retinitis pigmentosa 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Retinitis pigmentosa 47 OMIM
ClinVar
PMID:7670478 PMID:9565049 PMID:15234147 PMID:15295660 PMID:17200654 More... NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820
JBrowse link
retinitis pigmentosa 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: Retinitis pigmentosa 48 OMIM
ClinVar
PMID:15452722 PMID:15505030 PMID:22025579 PMID:25741868 PMID:26161267 More... NCBI chr 9:13,599,619...13,607,455
Ensembl chr 9:13,599,619...13,607,455
JBrowse link
retinitis pigmentosa 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnga1 cyclic nucleotide gated channel subunit alpha 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 49
ClinVar Annotator: match by OMIM:613756
OMIM
ClinVar
PMID:7479749 PMID:12362048 PMID:18310263 PMID:23462753 PMID:24033266 More... NCBI chr14:35,566,947...35,605,065
Ensembl chr14:35,567,125...35,605,065
JBrowse link
G Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 49 ClinVar PMID:23661369 PMID:24938718 PMID:25741868 PMID:28492532 NCBI chr19:9,726,595...9,791,111
Ensembl chr19:9,726,595...9,791,173
JBrowse link
retinitis pigmentosa 50 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: Retinitis pigmentosa 50
ClinVar Annotator: match by term: Retinitis pigmentosa, concentric
OMIM
ClinVar
PMID:9700209 PMID:19853238 PMID:24560797 PMID:25741868 PMID:26716959 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: Retinitis pigmentosa 50 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
JBrowse link
retinitis pigmentosa 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 51
ClinVar Annotator: match by OMIM:613464
OMIM
ClinVar
PMID:9536098 PMID:16308660 PMID:17576681 PMID:20451172 PMID:21044901 More... NCBI chr 6:118,198,186...118,252,422
Ensembl chr 6:118,198,201...118,252,418
JBrowse link
retinitis pigmentosa 54 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcare photoreceptor cilium actin regulator ISO ClinVar Annotator: match by term: Retinitis pigmentosa 54
ClinVar Annotator: match by OMIM:613428
OMIM
ClinVar
PMID:4543597 PMID:20398884 PMID:20398886 PMID:20811058 PMID:21412943 More... NCBI chr 6:23,749,700...23,758,419
Ensembl chr 6:23,749,757...23,758,169
JBrowse link
retinitis pigmentosa 55 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl6 ADP-ribosylation factor like GTPase 6 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 55
ClinVar Annotator: match by OMIM:613575
OMIM
ClinVar
PMID:19858128 PMID:19956407 PMID:21282186 NCBI chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937
JBrowse link
retinitis pigmentosa 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 56
ClinVar Annotator: match by OMIM:613581
OMIM
ClinVar
PMID:20673862 PMID:24876279 PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr11:44,318,836...44,418,382
Ensembl chr11:44,318,836...44,418,382
JBrowse link
retinitis pigmentosa 57 term browser