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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: Pigmentary Retinopathy;   RP;   pericentral pigmentary retinopathy;   pigmentary retinopathies;   tapetoretinal degeneration;   tapetoretinal degenerations
 narrow_synonym: Progressive retinal atrophy, type 3;   autosomal dominant retinitis pigmentosa;   autosomal recessive retinitis pigmentosa;   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.


show annotations for term's descendants           Sort by:
 
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: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar Annotator: match by term: Pigmentary retinopathy
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:8002831 PMID:9054934 PMID:9295268 PMID:9466990 PMID:9781034 PMID:9973280 PMID:10090887 PMID:10206579 PMID:10396622 PMID:10612508 PMID:10634594 PMID:10711710 PMID:10746567 PMID:10880298 PMID:10958761 PMID:10958763 PMID:11017087 PMID:11328725 PMID:11346402 PMID:11379881 PMID:11527935 PMID:11594993 PMID:11702214 PMID:11726554 PMID:11857735 PMID:11919200 PMID:11973624 PMID:12037008 PMID:12192456 PMID:12515255 PMID:12796258 PMID:14517951 PMID:14709597 PMID:14971589 PMID:15108289 PMID:15161829 PMID:15192030 PMID:15494742 PMID:15516930 PMID:15579991 PMID:15614537 PMID:16103129 PMID:16123440 PMID:16303926 PMID:16400609 PMID:16546111 PMID:16917483 PMID:16968212 PMID:17724221 PMID:17982420 PMID:18024811 PMID:18285826 PMID:18854780 PMID:18977788 PMID:19028736 PMID:19074458 PMID:19217903 PMID:19230850 PMID:19365591 PMID:20029649 PMID:20335603 PMID:20554613 PMID:20696155 PMID:20981092 PMID:21293320 PMID:21911583 PMID:22025579 PMID:22229821 PMID:22264887 PMID:22312191 PMID:22328824 PMID:22449572 PMID:22661472 PMID:22735453 PMID:22968130 PMID:22995991 PMID:23096905 PMID:23105016 PMID:23143460 PMID:23144455 PMID:23419329 PMID:23443024 PMID:23591405 PMID:23695285 PMID:23755871 PMID:23769331 PMID:23918662 PMID:23940504 PMID:23949494 PMID:23953153 PMID:23982839 PMID:24011517 PMID:24033266 PMID:24082139 PMID:24097981 PMID:24154662 PMID:24265693 PMID:24453473 PMID:24509150 PMID:24713488 PMID:25066811 PMID:25082885 PMID:25087612 PMID:25097241 PMID:25283059 PMID:25312043 PMID:25333069 PMID:25346251 PMID:25356976 PMID:25412400 PMID:25472526 PMID:25525159 PMID:25712131 PMID:25741868 PMID:25910913 PMID:26103963 PMID:26161775 PMID:26229699 PMID:26247787 PMID:26261413 PMID:26355662 PMID:26497376 PMID:26593885 PMID:26780318 PMID:26872967 PMID:26976702 PMID:27014590 PMID:27367509 PMID:27491360 PMID:27583828 PMID:27628848 PMID:27739528 PMID:27775217 PMID:27820952 PMID:27939946 PMID:28041643 PMID:28118664 PMID:28224992 PMID:28446513 PMID:28492532 PMID:28512305 PMID:28559085 PMID:29099798 PMID:29114839 PMID:29145636 PMID:29162642 PMID:29186038 PMID:29310964 PMID:29461686 PMID:29847635 PMID:29925512 PMID:29971439 PMID:29975949 PMID:30054919 PMID:30060493 PMID:30093795 PMID:30311386 PMID:30718709 PMID:31015497 PMID:31968401, PMID:9466990, PMID:23701314 RGD:1598552, RGD:8547535 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Acan aggrecan treatment ISO RGD PMID:25646031 RGD:11570529 NCBI chr 1:140,762,758...140,824,441
Ensembl chr 1:140,762,758...140,824,441
JBrowse link
G Adam9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar NCBI chr16:71,810,377...71,887,926
Ensembl chr16:71,810,377...71,887,926
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 chr14:64,686,677...64,786,813
Ensembl chr14:64,686,793...64,786,497
JBrowse link
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:30718709 NCBI chr 2:8,926,843...9,504,455
Ensembl chr 2:8,926,850...9,504,134
JBrowse link
G Agbl5 ATP/GTP binding protein-like 5 ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar PMID:31725702 NCBI chr 6:26,837,299...26,857,234
Ensembl chr 6:26,838,036...26,855,658
JBrowse link
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25445212 PMID:25741868 PMID:26092869 PMID:28041643 PMID:28431631 PMID:28442542 PMID:28492532 PMID:32165824 NCBI chr 1:16,478,127...16,601,769
Ensembl chr 1:16,478,127...16,601,769
JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 treatment IEP protein:increased expression:nucleus: RGD PMID:23951212 RGD:10053563 NCBI chr  X:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087
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
PMID:10873396 PMID:11139241 PMID:12881340 PMID:14611946 PMID:15249368 PMID:15469903 PMID:16052170 PMID:16272259 PMID:18408180 PMID:18682808 PMID:20683928 PMID:22412862 PMID:23737531 PMID:25741868 PMID:28492532, PMID:19710705 RGD:8696011 NCBI chr10:58,599,690...58,631,194
Ensembl chr10:58,599,856...58,608,907
JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:30718709 NCBI chr 4:117,371,544...117,472,310
Ensembl chr 4:117,371,659...117,472,198
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 chr19:10,753,670...10,763,247
Ensembl chr19:10,753,681...10,763,110
JBrowse link
G Arl6 ADP-ribosylation factor like GTPase 6 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:17160889 PMID:19858128 PMID:19956407 PMID:20177705 PMID:21282186 PMID:23219996 PMID:25741868 PMID:26355662 PMID:28041643 PMID:28492532 NCBI chr11:42,858,476...42,884,324
Ensembl chr11:42,858,478...42,884,603
JBrowse link
G Atf6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26029869 NCBI chr13:89,053,457...89,242,531
Ensembl chr13:89,055,983...89,242,443
JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 PMID:15770229 PMID:17980398 PMID:18032602 PMID:18669544 PMID:18766993 PMID:20120035 PMID:20177705 PMID:20498079 PMID:21052717 PMID:21344540 PMID:21520335 PMID:21642631 PMID:22581970 PMID:22773737 PMID:22940089 PMID:23143442 PMID:23565731 PMID:23847139 PMID:23943788 PMID:24033266 PMID:25326635 PMID:25741868 PMID:26261414 PMID:26467025 PMID:26872967 PMID:27032803 PMID:27659767 PMID:28041643 PMID:28492532 PMID:29264490 PMID:30614526 PMID:30718709 NCBI chr 1:220,146,084...220,165,545
Ensembl chr 1:220,147,327...220,165,678
JBrowse link
G Bbs10 Bardet-Biedl syndrome 10 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:10874630 PMID:11179009 PMID:11567139 PMID:16582908 PMID:16823392 PMID:17980398 PMID:20080638 PMID:20120035 PMID:20177705 PMID:20498079 PMID:20805367 PMID:20876674 PMID:21209035 PMID:21344540 PMID:21642631 PMID:22353939 PMID:22713813 PMID:24400638 PMID:24746959 PMID:25741868 PMID:26467025 PMID:27385962 PMID:28041643 PMID:28492532 PMID:30311386 PMID:30614526 PMID:30718709 NCBI chr 7:54,030,229...54,034,354
Ensembl chr 7:54,031,316...54,034,350
JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:17160889 PMID:20120035 PMID:20498079 PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr 2:124,048,513...124,057,026
Ensembl chr 2:124,054,282...124,056,795
JBrowse link
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar PMID:11567139 PMID:19402160 PMID:20120035 PMID:20177705 PMID:20498079 PMID:21052717 PMID:21344540 PMID:21642631 PMID:22401627 PMID:22410627 PMID:23829372 PMID:24033266 PMID:25133751 PMID:25412400 PMID:25541840 PMID:25741868 PMID:26355662 PMID:27659767 PMID:27894351 PMID:28492532 PMID:28559085 PMID:30718709 NCBI chr19:11,385,921...11,421,523
Ensembl chr19:11,386,024...11,421,498
JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:64,115,005...64,154,432
Ensembl chr 8:64,121,392...64,154,396
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 2:123,283,402...123,322,991
Ensembl chr 2:123,283,388...123,323,170
JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:30718709 NCBI chr 8:23,491,929...24,074,524
Ensembl chr 8:23,492,621...24,074,536
Ensembl chr 8:23,492,621...24,074,536
JBrowse link
G Bcan brevican severity ISO RGD PMID:29150673 RGD:14392802 NCBI chr 2:187,359,674...187,373,133
Ensembl chr 2:187,359,677...187,372,657
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 PMID:10453731 PMID:10798642 PMID:10854112 PMID:11713080 PMID:14615048 PMID:16754206 PMID:17110374 PMID:17898294 PMID:18179881 PMID:19853238 PMID:21192766 PMID:21273940 PMID:21330666 PMID:21809908 PMID:21825197 PMID:22162627 PMID:22183385 PMID:22422030 PMID:23290749 PMID:24033266 PMID:25741868 PMID:26200502 PMID:26333019 PMID:27519691 PMID:28041643 PMID:28492532 PMID:28687848 PMID:30311386 PMID:30718709, PMID:23701314 RGD:8547535 NCBI chr 1:226,033,146...226,049,893
Ensembl chr 1:226,030,875...226,049,929
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 PMID:7581389 PMID:9385361 PMID:15090652 PMID:15295099 PMID:15563508 PMID:20626030 PMID:28492532 PMID:29343940, PMID:15090652 RGD:1600730 NCBI chr10:72,272,286...72,281,069
Ensembl chr10:72,272,248...72,281,067
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:30718709 NCBI chr  X:15,712,709...15,741,135
Ensembl chr  X:15,712,713...15,741,103
JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr 4:151,298,548...151,409,263
Ensembl chr 4:151,298,548...151,409,263
JBrowse link
G Casp7 caspase 7 ISO RGD PMID:23470535 RGD:8548491 NCBI chr 1:277,190,557...277,242,779
Ensembl chr 1:277,190,964...277,242,774
JBrowse link
G Cat catalase ISO RGD PMID:19293779 RGD:8158049 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Ccdc66 coiled-coil domain containing 66 ISS OMIM:268000 MouseDO NCBI chr16:3,107,119...3,139,188
Ensembl chr16:3,110,239...3,139,177
JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Pigmentary retinopathy
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar PMID:18429043 PMID:21228398 PMID:21569298 PMID:22135276 PMID:22995991 PMID:24033266 PMID:24416283 PMID:25474345 PMID:25741868 PMID:28492532 PMID:30029624 PMID:30311386 PMID:30718709, PMID:20212494 RGD:8547536 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:30718709 NCBI chr19:38,668,957...38,719,801
Ensembl chr19:38,669,230...38,719,677
JBrowse link
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:26766544 PMID:28041643 PMID:28492532 PMID:28765526 PMID:30311386 PMID:30718709 NCBI chr16:14,328,161...14,348,049
Ensembl chr16:14,328,160...14,348,046
JBrowse link
G Cep250 centrosomal protein 250 ISS MouseDO NCBI chr 3:151,508,366...151,544,631
Ensembl chr 3:151,508,361...151,544,674
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
ClinVar PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 PMID:17564974 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19764032 PMID:20690115 PMID:21068128 PMID:21245082 PMID:21866095 PMID:22355252 PMID:22693042 PMID:23344081 PMID:23591405 PMID:23954617 PMID:25741868 PMID:25818971 PMID:26092869 PMID:27353947 PMID:28041643 PMID:28224992 PMID:28492532 PMID:29343940 PMID:29844330 PMID:30311386 PMID:30718709 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Cerkl ceramide kinase-like susceptibility ISO DNA:mutation:exon
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Pigmentary retinopathy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar
RGD
PMID:14681825 PMID:18055789 PMID:20554613 PMID:21151602 PMID:22164218 PMID:23105016 PMID:24043777 PMID:24498393 PMID:24625443 PMID:25097241 PMID:25342276 PMID:25741868 PMID:25999674 PMID:26355662 PMID:27874104 PMID:28041643 PMID:28492532 PMID:28559085 PMID:29068140 PMID:30054919 PMID:30311386 PMID:30718709 PMID:221642182, PMID:14681825 RGD:1600829, RGD:1600829 NCBI chr 3:66,268,835...66,395,615
Ensembl chr 3:66,268,947...66,394,764
JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar PMID:25741868 PMID:26167768 PMID:26974433 PMID:27596865 PMID:28041643 PMID:28422394 PMID:28492532 PMID:30311386 NCBI chr20:11,417,428...11,424,301
Ensembl chr20:11,417,429...11,424,324
JBrowse link
G Chm CHM Rab escort protein ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:19422966 PMID:28492532 PMID:28559085 PMID:30718709 NCBI chr  X:84,666,900...84,821,775
Ensembl chr  X:84,666,900...84,821,775
JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar PMID:7553855 PMID:9311735 PMID:10332042 PMID:17947292 PMID:19132115 PMID:21990111 PMID:24154662 PMID:25741868 PMID:26766544 PMID:28041643 PMID:28492532 PMID:28542676 PMID:28559085 NCBI chr 1:197,986,384...197,999,726
Ensembl chr 1:197,986,385...197,997,664
JBrowse link
G Clrn1 clarin 1 IAGP
ISO
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12080385 PMID:12145752 PMID:14569126 PMID:15521980 PMID:16028794 PMID:18281613 PMID:19423712 PMID:19753315 PMID:22787034 PMID:23304067 PMID:24033266 PMID:24596593 PMID:25741868 PMID:26180195 PMID:28041643 PMID:28492532 PMID:30718709, PMID:12145752, PMID:23701314 RGD:634439, RGD:8547535 NCBI chr 2:149,049,925...149,088,787
Ensembl chr 2:149,049,925...149,088,787
JBrowse link
G Cnga1 cyclic nucleotide gated channel subunit alpha 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:268000
ClinVar
CTD
PMID:7479749 PMID:18310263 PMID:24033266 PMID:24154662 PMID:24265693 PMID:25268133 PMID:25326637 PMID:25356976 PMID:25611614 PMID:25741868 PMID:26306921 PMID:26496393 PMID:28041643 PMID:28492532 PMID:28981474 PMID:29785639 PMID:30311386 PMID:30337596 PMID:30718709, PMID:7479749, PMID:23701314 RGD:1300380, RGD:8547535 NCBI chr14:38,155,771...38,171,107
Ensembl chr14:38,155,759...38,171,010
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: Pigmentary retinopathy
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar
CTD
PMID:11379879 PMID:15557452 PMID:21147909 PMID:21987686 PMID:22025579 PMID:23105016 PMID:23661369 PMID:24043777 PMID:24339724 PMID:24938718 PMID:25324289 PMID:25741868 PMID:25943428 PMID:25999674 PMID:26355662 PMID:27874104 PMID:28041643 PMID:28056120 PMID:28492532 PMID:28559085 PMID:29202463 PMID:29912909 PMID:30311386 PMID:30718709, PMID:11379879, PMID:23701314 RGD:734793, RGD:8547535 NCBI chr19:10,142,440...10,206,618
Ensembl chr19:10,142,496...10,206,681
JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:1347967 PMID:10888875 PMID:10958649 PMID:11124331 PMID:12815043 PMID:14757870 PMID:15161866 PMID:15657609 PMID:15712225 PMID:16379026 PMID:17265047 PMID:22975760 PMID:22995991 PMID:23805033 PMID:24033266 PMID:24504161 PMID:25741868 PMID:25770143 PMID:26106334 PMID:28005958 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28795510 PMID:30311386 PMID:30718709 PMID:32860008 NCBI chr 5:33,097,353...33,507,467
Ensembl chr 5:33,097,654...33,507,467
JBrowse link
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:28492532 PMID:30718709 NCBI chr 9:43,049,587...43,088,690
Ensembl chr 9:43,049,587...43,088,702
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:19390655 PMID:21862674 PMID:23667181 PMID:28041643 PMID:28492532 PMID:29977801 PMID:30311386 NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858
JBrowse link
G Crb1 crumbs cell polarity complex component 1 susceptibility ISO DNA:missense mutations
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutation:cds:multiple
ClinVar
CTD
PMID:10508521 PMID:11231775 PMID:11389483 PMID:12700176 PMID:12843338 PMID:14971589 PMID:15024725 PMID:15459956 PMID:15623792 PMID:16123401 PMID:16272259 PMID:17964524 PMID:18055816 PMID:19339744 PMID:19401883 PMID:19956407 PMID:20079931 PMID:20301475 PMID:20591486 PMID:20956273 PMID:21602930 PMID:21757580 PMID:22065545 PMID:22164218 PMID:22968130 PMID:23105016 PMID:23362850 PMID:23379534 PMID:23449718 PMID:24033266 PMID:24265693 PMID:24512366 PMID:24715753 PMID:24938718 PMID:25097241 PMID:25356976 PMID:25741868 PMID:26047050 PMID:26355662 PMID:26497376 PMID:27113771 PMID:28041643 PMID:28129017 PMID:28341475 PMID:28492532 PMID:29178642 PMID:29200130 PMID:29391521 PMID:30029497 PMID:30311386 PMID:30718709, PMID:10508521, PMID:20956273 RGD:1600966, RGD:8552697 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
JBrowse link
G Crb2 crumbs cell polarity complex component 2 ISO
ISS
OMIM:268000 MouseDO PMID:24493795 RGD:8552786 NCBI chr 3:22,037,812...22,061,247
Ensembl chr 3:22,038,357...22,058,871
JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa
ClinVar Annotator: match by term: 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
PMID:9427255 PMID:9792858 PMID:10766140 PMID:11139241 PMID:11748859 PMID:16123401 PMID:17964524 PMID:18682808 PMID:22960069 PMID:23049240 PMID:25741868 PMID:26355662 PMID:28041643 PMID:28492532 PMID:30460480 PMID:30718709, PMID:23701314 RGD:8547535 NCBI chr 1:77,744,593...77,758,913
Ensembl chr 1:77,745,288...77,750,960
JBrowse link
G Cwc27 CWC27 spliceosome associated cyclophilin ISS MouseDO NCBI chr 2:34,716,420...34,923,060
Ensembl chr 2:34,719,344...34,923,024
JBrowse link
G Cygb cytoglobin ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:16938425 PMID:20507925 PMID:23661369 PMID:25741868 PMID:28492532 PMID:29785639 NCBI chr10:105,618,325...105,628,091
Ensembl chr10:105,618,326...105,628,091
JBrowse link
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:24480711 PMID:28041643 NCBI chr16:50,111,803...50,136,741
Ensembl chr16:50,111,306...50,136,727
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:24033266 PMID:24078709 PMID:24664694 PMID:25066056 PMID:25255364 PMID:25741868 PMID:26261414 PMID:27343064 PMID:28130426 PMID:28492532 PMID:29276052 NCBI chr 5:152,200,681...152,227,669
Ensembl chr 5:152,199,584...152,227,677
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 chr19:42,110,291...42,127,540
Ensembl chr19:42,110,327...42,127,542
JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:32753734 NCBI chr 8:5,217,054...5,436,969
Ensembl chr 8:5,217,217...5,429,581
JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:20005906 RGD:8661800 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
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 5:157,820,908...157,846,226
Ensembl chr 5:157,820,908...157,846,226
JBrowse link
G Eml3 EMAP like 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar NCBI chr 1:225,128,997...225,140,472
Ensembl chr 1:225,129,097...225,140,428
JBrowse link
G Epg5 ectopic P-granules autophagy protein 5 homolog ISS
ISO
ClinVar Annotator: match by term: Syndromic retinitis pigmentosa MouseDO
ClinVar
NCBI chr18:74,299,965...74,397,115
Ensembl chr18:74,299,931...74,395,547
JBrowse link
G Fam161a FAM161 centrosomal protein A ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
ClinVar PMID:10507729 PMID:20705278 PMID:20705279 PMID:23167750 PMID:23591405 PMID:24520187 PMID:24651477 PMID:25007332 PMID:25097241 PMID:25525159 PMID:25741868 PMID:25999674 PMID:26113502 PMID:26355662 PMID:26574802 PMID:28041643 PMID:28492532 PMID:30718709 NCBI chr14:107,785,029...107,803,765
Ensembl chr14:107,785,029...107,798,115
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 treatment IDA RGD PMID:11319911 RGD:12801430 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Flvcr1 FLVCR heme transporter 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr13:109,624,167...109,629,609
Ensembl chr13:109,578,074...109,629,482
JBrowse link
G Fscn2 fascin actin-bundling protein 2, retinal ISO RGD PMID:11527955 RGD:1598962 NCBI chr10:109,528,307...109,540,675
Ensembl chr10:109,533,487...109,540,026
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:21273940 PMID:25741868 PMID:28492532 PMID:28687848 NCBI chr 1:226,030,940...226,033,228
Ensembl chr 1:226,030,938...226,033,228
JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:30718709 NCBI chr 8:116,433,302...116,438,038
Ensembl chr 8:116,433,302...116,438,038
JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Pigmentary retinopathy
ClinVar PMID:30311386 PMID:30718709 NCBI chr10:85,273,839...85,289,886
Ensembl chr10:85,274,057...85,289,777
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 4:169,541,620...170,000,216
Ensembl chr 4:169,560,387...169,999,873
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 PMID:25741868 PMID:28041643 PMID:28492532 NCBI chr 9:15,609,804...15,620,030
Ensembl chr 9:15,609,804...15,620,029
JBrowse link
G 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
PMID:15452722 PMID:15505030 PMID:22025579 PMID:25741868 PMID:26161267 PMID:28492532, PMID:23701314 RGD:8547535 NCBI chr 9:15,621,083...15,629,017
Ensembl chr 9:15,621,083...15,629,017
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal susceptibility ISO DNA:mutation:exon
CTD Direct Evidence: marker/mechanism
CTD PMID:16272259, PMID:11565546 RGD:1599624 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
JBrowse link
G Hadhb hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:30311386 NCBI chr 6:27,555,408...27,589,539
Ensembl chr 6:27,555,412...27,582,995
JBrowse link
G Hgf hepatocyte growth factor ISO protein:increased expression:vitreous humor: RGD PMID:20053975 RGD:8548602 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
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 PMID:28041643 PMID:28492532 PMID:30311386 NCBI chr16:70,876,557...70,909,443 JBrowse link
G Hk1 hexokinase 1 ISO DNA:mutation:cds:c.2539G>A,p.Glu847Lys(human) RGD PMID:25190649 RGD:13673896 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:28058510 PMID:28412069 NCBI chr 8:59,164,601...59,183,899
Ensembl chr 8:59,164,572...59,183,908
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, Recessive
CTD
ClinVar
PMID:18806796 PMID:28492532 NCBI chr 3:122,808,564...122,813,638
Ensembl chr 3:122,808,564...122,813,583
JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:26497376 PMID:28041643 NCBI chr10:14,373,668...14,461,509
Ensembl chr10:14,373,679...14,461,160
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
PMID:11875050 PMID:16384941 PMID:20045992 PMID:20718729 PMID:24244438 PMID:25741868 PMID:28492532 PMID:30311386 PMID:30718709, PMID:11875050, PMID:11875049, PMID:18385099 RGD:1599608, RGD:5144221, RGD:5144134 NCBI chr 4:56,478,383...56,493,987
Ensembl chr 4:56,478,384...56,493,923
JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr 8:87,733,374...87,879,958
Ensembl chr 8:87,733,545...87,879,888
JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by null
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 PMID:20673862 PMID:22277662 PMID:24938718 PMID:25085631 PMID:25741868 PMID:26355662 PMID:26667666 PMID:28041643 PMID:28492532 PMID:28559085 PMID:30054919 PMID:30718709 PMID:31264916 NCBI chr11:46,615,091...46,693,565
Ensembl chr11:46,615,200...46,693,565
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 chr11:66,824,059...66,878,585
Ensembl chr11:66,824,065...66,878,551
JBrowse link
G Itga4 integrin subunit alpha 4 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar PMID:28041643 NCBI chr 3:66,178,745...66,265,547
Ensembl chr 3:66,193,059...66,263,960
JBrowse link
G Itprid2 ITPR interacting domain containing 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:28041643 NCBI chr 3:66,593,767...66,631,143
Ensembl chr 3:66,593,934...66,631,723
JBrowse link
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Syndromic retinitis pigmentosa ClinVar PMID:32214227 NCBI chr 1:256,035,866...256,088,299
Ensembl chr 1:256,035,866...256,088,299
JBrowse link
G Kiz kizuna centrosomal protein ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:24680887 PMID:25741868 PMID:28492532 PMID:28837078 PMID:29057815 NCBI chr 3:141,067,981...141,173,738
Ensembl chr 3:141,068,023...141,173,858
JBrowse link
G Kl Klotho ISO
IEP
protein:increased expression:retina,photoreceptor,nucleus: RGD PMID:23796581, PMID:23796581 RGD:10403060, RGD:10403060 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
G Klb klotho beta ISO protein:increased expression:outer nuclear layer: RGD PMID:23796581 RGD:10403060 NCBI chr14:44,529,523...44,614,093 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 PMID:28492532 NCBI chr 4:7,532,881...7,582,032
Ensembl chr 4:7,532,889...7,582,207
JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar NCBI chr19:12,481,563...12,945,320
Ensembl chr19:12,481,540...12,942,963
JBrowse link
G Lca5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr 8:90,926,309...90,984,271
Ensembl chr 8:90,926,311...90,984,224
JBrowse link
G Lrat lecithin retinol acyltransferase ISO early-onset severe retinal dystrophy, OMIM:604863
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
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
PMID:22025579 PMID:25741868 PMID:26355662 PMID:28492532 PMID:30054919 PMID:30718709, PMID:11381255, PMID:23701314 RGD:1599754, RGD:8547535 NCBI chr 2:181,896,304...181,905,366
Ensembl chr 2:181,896,305...181,905,300
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:21835304 PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr17:21,531,651...21,567,742
Ensembl chr17:21,521,505...21,568,440
JBrowse link
G Mertk MER proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by null
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
ClinVar
CTD
PMID:11062461 PMID:11592982 PMID:15111602 PMID:16714263 PMID:17301963 PMID:19956407 PMID:20300561 PMID:22180149 PMID:22939401 PMID:24265693 PMID:24625443 PMID:24938718 PMID:25097241 PMID:25741868 PMID:26147992 PMID:26263531 PMID:26355662 PMID:26825853 PMID:28041643 PMID:28492532 PMID:28559085 PMID:29068140 PMID:29659094 PMID:30054919 PMID:30718709 PMID:31725702 NCBI chr 3:121,235,230...121,340,932
Ensembl chr 3:121,235,119...121,342,444
JBrowse link
G Mfrp membrane frizzled-related protein ISO DNA:deletio:exon:c.498delC(P.166PfsX26)(human) RGD PMID:22605927 RGD:11553921 NCBI chr 8:48,437,720...48,443,421
Ensembl chr 8:48,437,918...48,443,421
JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25333361 PMID:28041643 PMID:28492532 PMID:28586915 NCBI chr 2:127,706,618...127,784,129
Ensembl chr 2:127,699,761...127,781,003
JBrowse link
G MGC94199 similar to RIKEN cDNA 2610301B20; EST AI428449 ISO ClinVar Annotator: match by term: 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:26355662 PMID:26854863 PMID:27008867 PMID:28492532 NCBI chr 5:24,145,829...24,165,467
NCBI chr 5:23,358,464...23,377,697
Ensembl chr 5:23,358,841...23,377,651
Ensembl chr 5:23,358,841...23,377,651
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:30718709 NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
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 chr19:11,307,966...11,308,740
Ensembl chr19:11,307,967...11,308,740
JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by null
ClinVar PMID:8900236 PMID:10094549 PMID:19074810 PMID:24033266 PMID:27957503 PMID:28492532 PMID:30718709, PMID:20212494 RGD:8547536 NCBI chr 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
JBrowse link
G Neurod1 neuronal differentiation 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:28041643 NCBI chr 3:66,414,314...66,417,617
Ensembl chr 3:66,414,308...66,417,741
JBrowse link
G Ngf nerve growth factor IEP protein:decreased expression:lacrimal gland RGD PMID:20595895 RGD:4891133 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
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 PMID:15459973 PMID:15689355 PMID:16024868 PMID:16225923 PMID:17438525 PMID:17564971 PMID:17982421 PMID:18294254 PMID:18436841 PMID:18835469 PMID:19006237 PMID:19139342 PMID:19273793 PMID:19718767 PMID:19823680 PMID:19898638 PMID:21217109 PMID:21364904 PMID:22711506 PMID:23039133 PMID:23105016 PMID:23374571 PMID:23591405 PMID:23989059 PMID:24033266 PMID:24069298 PMID:24339724 PMID:24474277 PMID:25079116 PMID:25097241 PMID:25326637 PMID:25703721 PMID:25741868 PMID:26355662 PMID:26894784 PMID:26910043 PMID:27032803 PMID:27522502 PMID:27874104 PMID:28041643 PMID:28492532 PMID:28944237 PMID:30054919 PMID:30311386 PMID:30718709 NCBI chr 8:64,797,518...64,801,587
Ensembl chr 8:64,797,518...64,800,467
JBrowse link
G 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
PMID:10192380 PMID:12796249 PMID:15591106 PMID:17335001 PMID:27081294 PMID:27624628 PMID:28492532, PMID:11879142 RGD:1580991 NCBI chr15:34,197,115...34,201,408
Ensembl chr15:34,197,193...34,198,921
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:29,562,165...29,602,934
Ensembl chr  X:29,562,165...29,602,925
JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Pigmentary retinopathy ClinVar PMID:30311386 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link
G P3h2 prolyl 3-hydroxylase 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar NCBI chr11:78,028,885...78,169,746
Ensembl chr11:78,029,038...78,169,648
JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:26497376 NCBI chr 3:123,807,911...123,841,797
Ensembl chr 3:123,807,952...123,841,797
JBrowse link
G Pcare photoreceptor cilium actin regulator ISO ClinVar Annotator: match by 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:20811058 PMID:21412943 PMID:23105016 PMID:24780881 PMID:25741868 PMID:26306921 PMID:26497376 PMID:27353947 PMID:28041643 PMID:28492532 PMID:28763557 PMID:30054919 PMID:30311386 PMID:30718709 PMID:31725702 NCBI chr 6:23,337,507...23,346,232
Ensembl chr 6:23,337,571...23,346,173
JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant ClinVar PMID:30718709, PMID:20212494 RGD:8547536 NCBI chr20:14,952,213...15,334,745
Ensembl chr20:14,952,213...15,334,745
JBrowse link
G Pde6a phosphodiesterase 6A ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: 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
PMID:7493036 PMID:10393062 PMID:17110911 PMID:18723146 PMID:21039428 PMID:21147909 PMID:21151602 PMID:22128245 PMID:23105016 PMID:23134348 PMID:23847139 PMID:24265693 PMID:24339724 PMID:24416769 PMID:24512775 PMID:25741868 PMID:25775262 PMID:25999674 PMID:26321862 PMID:26496393 PMID:26806561 PMID:26868535 PMID:27208204 PMID:27551530 PMID:27917291 PMID:28041643 PMID:28492532 PMID:29118501 PMID:29343940 PMID:29693493 PMID:30029497 PMID:30311386 PMID:30619975 PMID:30718709, PMID:23701314 RGD:8547535 NCBI chr18:56,544,652...56,617,480
Ensembl chr18:56,544,652...56,617,480
JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Pigmentary retinopathy
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
PMID:7724547 PMID:8394174 PMID:8595886 PMID:9238087 PMID:10234513 PMID:12525556 PMID:17267005 PMID:18854872 PMID:20591486 PMID:22334370 PMID:23105016 PMID:24033266 PMID:24625443 PMID:24938718 PMID:25097241 PMID:25472526 PMID:25741868 PMID:25823529 PMID:25999674 PMID:26355662 PMID:26497376 PMID:26667666 PMID:27588261 PMID:27874104 PMID:28041643 PMID:28224992 PMID:28492532 PMID:28912962 PMID:28981474 PMID:30029497 PMID:30054919 PMID:30311386 PMID:30718709 PMID:30820151, PMID:17267005 RGD:8657407 NCBI chr14:2,328,690...2,371,913
Ensembl chr14:2,328,750...2,371,883
JBrowse link
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
PMID:20655036 PMID:25741868 PMID:28492532, PMID:23701314 RGD:8547535 NCBI chr10:109,620,499...109,625,214
Ensembl chr10:109,620,980...109,622,745
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:22302105 PMID:22363543 PMID:24033266 PMID:24474277 PMID:24652164 PMID:24938718 PMID:25097241 PMID:25133751 PMID:25324289 PMID:25356976 PMID:25741868 PMID:26161267 PMID:26261414 PMID:26667666 PMID:26787102 PMID:27658286 PMID:28041643 PMID:28492532 PMID:29550188 PMID:30718709 NCBI chr 9:37,073,514...37,144,027
Ensembl chr 9:37,073,514...37,144,015
JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:1155634 PMID:9326939 PMID:9657395 PMID:10767344 PMID:11555634 PMID:14974078 PMID:20818383 PMID:25741868 PMID:28041643 PMID:28492532 NCBI chr17:77,287,580...77,304,482
Ensembl chr17:77,287,188...77,304,530
JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:8586428 PMID:17377520 PMID:22405330 PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr10:58,618,679...58,722,679
Ensembl chr10:58,618,645...58,693,754
JBrowse link
G Poc5 POC5 centriolar protein ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:29272404 NCBI chr 2:27,000,303...27,030,646
Ensembl chr 2:27,000,327...27,030,754
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:16938425 PMID:20507925 PMID:23661369 PMID:25741868 PMID:28492532 PMID:29785639 NCBI chr10:105,630,686...105,642,427
Ensembl chr10:105,630,810...105,631,208
JBrowse link
G Prkcg protein kinase C, gamma ISO RGD PMID:9545390 RGD:737791 NCBI chr 1:64,407,098...64,433,698
Ensembl chr 1:64,407,114...64,433,636
JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive
ClinVar PMID:10205271 PMID:17605048 PMID:19718270 PMID:23105016 PMID:23757202 PMID:24154662 PMID:24265693 PMID:25741868 PMID:25910913 PMID:25999674 PMID:26103963 PMID:26161267 PMID:26261540 PMID:26355662 PMID:26393467 PMID:26872967 PMID:27874104 PMID:28041643 PMID:28492532 PMID:29186038 PMID:30718709 NCBI chr14:71,532,321...71,637,400
Ensembl chr14:71,533,063...71,637,417
JBrowse link
G Prpf3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
ClinVar PMID:11773002 PMID:15085354 PMID:17932117 PMID:20309403 PMID:20811066 PMID:25741868 PMID:28492532 PMID:28559085, PMID:11773002 RGD:1599535 NCBI chr 2:197,947,010...197,971,464
Ensembl chr 2:197,947,010...197,971,463
JBrowse link
G Prpf31 pre-mRNA processing factor 31 ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by null
ClinVar PMID:19506198 PMID:25741868 PMID:28041643 PMID:30718709, PMID:23701314 RGD:8547535 NCBI chr 1:64,150,786...64,162,461
Ensembl chr 1:64,150,786...64,162,461
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 3:177,098,137...177,162,937
Ensembl chr 3:177,098,073...177,162,916
JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
ClinVar PMID:11468273 PMID:12714658 PMID:16799052 PMID:24938718 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28515276 PMID:30311386 PMID:30718709 PMID:31725702, PMID:11468273, PMID:23701314 RGD:1599210, RGD:8547535 NCBI chr10:63,635,239...63,658,360
Ensembl chr10:63,635,219...63,658,361
JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa
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 PMID:1684223 PMID:7493155 PMID:7754251 PMID:8015786 PMID:8058286 PMID:8302543 PMID:8449524 PMID:8485576 PMID:8644804 PMID:8675410 PMID:8747448 PMID:8994365 PMID:9010868 PMID:9279751 PMID:9331261 PMID:9443872 PMID:11139241 PMID:12925772 PMID:14510799 PMID:16024869 PMID:18310263 PMID:19038374 PMID:19243827 PMID:22581970 PMID:22842402 PMID:22863181 PMID:23591405 PMID:23950152 PMID:24463884 PMID:24629188 PMID:25324289 PMID:25474345 PMID:25675413 PMID:25741868 PMID:26161267 PMID:26842753 PMID:28041643 PMID:28076437 PMID:28492532 PMID:28559085 PMID:29555955 PMID:30311386 PMID:30718709, PMID:23701314, PMID:8912967, PMID:7993211, PMID:9587927, PMID:9040483, PMID:1684223, PMID:16180699, PMID:11853584, PMID:11978760, PMID:22842402 RGD:8547535, RGD:8554861, RGD:8554860, RGD:8553237, RGD:8553235, RGD:8553234, RGD:8553222, RGD:8553218, RGD:8553216, RGD:8553188 NCBI chr 9:16,085,933...16,386,176 JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO DNA:missense mutation:exon:p.S16P (human) RGD PMID:25491489 RGD:11056008 NCBI chr  X:111,798,233...111,820,270
Ensembl chr  X:111,798,233...111,820,266
JBrowse link
G Pten phosphatase and tensin homolog onset IEP mRNA:increased expression:retina (rat) RGD PMID:22432009 RGD:12802340 NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
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
PMID:19074801 PMID:21067480 PMID:23105016 PMID:23486466 PMID:24963161 PMID:25741868 PMID:27829784 PMID:28492532 PMID:28512305, PMID:23701314 RGD:8547535 NCBI chr16:10,277,775...10,286,243
Ensembl chr16:10,277,775...10,286,243
JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:27486781 NCBI chr15:39,622,572...39,665,335
Ensembl chr15:39,638,510...39,669,473
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
PMID:15258582 PMID:15322982 PMID:16269441 PMID:16968212 PMID:17389517 PMID:17512964 PMID:18779497 PMID:19011012 PMID:19140180 PMID:20683928 PMID:21151602 PMID:22065924 PMID:23847139 PMID:23900199 PMID:24474277 PMID:25412400 PMID:25494902 PMID:25741868 PMID:26047050 PMID:26103963 PMID:26306921 PMID:26355662 PMID:26667666 PMID:27032803 PMID:28041643 PMID:28157192 PMID:28492532 PMID:28559085 PMID:30134391 PMID:30311386 PMID:30718709, PMID:23701314 RGD:8547535 NCBI chr 6:102,392,828...102,405,750
Ensembl chr 6:102,392,828...102,405,750
JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:30311386 PMID:30718709 NCBI chr 7:3,335,681...3,342,573
Ensembl chr 7:3,335,742...3,342,491
JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa ClinVar PMID:29120066 NCBI chr 7:12,240,059...12,246,814
Ensembl chr 7:12,240,060...12,246,729
JBrowse link
G RGD1306271 similar to KIAA1549 protein ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr 4:65,834,933...65,962,722
Ensembl chr 4:65,834,035...65,962,539
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
PMID:10581022 PMID:16968212 PMID:24265693 PMID:28492532, PMID:10581022 RGD:1599623 NCBI chr16:14,286,323...14,300,972
Ensembl chr16:14,286,323...14,300,951
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
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
PMID:1301135 PMID:1484692 PMID:1580841 PMID:1783387 PMID:1833777 PMID:1840561 PMID:1862076 PMID:1882937 PMID:1897520 PMID:1924344 PMID:2137202 PMID:2215617 PMID:2509724 PMID:7724183 PMID:7981701 PMID:7987331 PMID:8045708 PMID:8088850 PMID:8240107 PMID:8253795 PMID:8317502 PMID:8328469 PMID:8353500 PMID:8401533 PMID:8554077 PMID:8841304 PMID:8905849 PMID:9020854 PMID:9050844 PMID:9197578 PMID:9380676 PMID:9391065 PMID:9483582 PMID:9618546 PMID:10521250 PMID:10967073 PMID:11094174 PMID:11139241 PMID:12660238 PMID:12860986 PMID:12871954 PMID:14971589 PMID:16123440 PMID:16737970 PMID:16767206 PMID:17488458 PMID:18175313 PMID:18273801 PMID:19206210 PMID:19913029 PMID:20555336 PMID:20591486 PMID:21094163 PMID:21217109 PMID:21219898 PMID:21352497 PMID:22164218 PMID:22995991 PMID:23591405 PMID:24265693 PMID:24520188 PMID:24760071 PMID:24935155 PMID:24938718 PMID:25097241 PMID:25101269 PMID:25221422 PMID:25408095 PMID:25741868 PMID:25999674 PMID:26962691 PMID:28041643 PMID:28492532 PMID:28524165 PMID:28559085 PMID:28715844 PMID:28981474 PMID:29068140 PMID:29847639 PMID:30240733 PMID:30311386 PMID:30718709 PMID:31100078, PMID:2215617, PMID:17083931, PMID:9810568, PMID:23288993, PMID:22252712, PMID:21268285, PMID:16332273, PMID:16643895, PMID:19960070, PMID:23470535, PMID:23402891, PMID:21126223, PMID:22419850, PMID:23701314 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 4:147,832,136...147,837,298
Ensembl chr 4:147,832,136...147,837,298
JBrowse link
G Ripk1 receptor interacting serine/threonine kinase 1 ISO RGD PMID:22908283 RGD:7777166 NCBI chr17:31,537,580...31,569,904
Ensembl chr17:31,537,591...31,569,904
JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ISO RGD PMID:22908283 RGD:7777166 NCBI chr15:34,470,796...34,479,741
Ensembl chr15:34,470,796...34,479,741
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, Recessive
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar PMID:9326942 PMID:10102298 PMID:10102299 PMID:11449319 PMID:11453974 PMID:12536144 PMID:15953459 PMID:17065479 PMID:18344446 PMID:19846785 PMID:20238024 PMID:22164218 PMID:22183382 PMID:22551409 PMID:23105016 PMID:23929416 PMID:25326637 PMID:25429852 PMID:25741868 PMID:26355662 PMID:28041643 PMID:28492532 PMID:30718709, PMID:11176989, PMID:23701314 RGD:1599618, RGD:8547535 NCBI chr 1:141,097,789...141,111,375
Ensembl chr 1:141,097,695...141,111,400
JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by OMIM:268000
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar Annotator: match by term: Pigmentary retinopathy
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 PMID:16799052 PMID:20335603 PMID:24265693 PMID:24938718 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 1:225,126,732...225,128,740
Ensembl chr 1:225,126,734...225,128,740
JBrowse link
G Rp1 RP1, axonemal microtubule associated ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
ClinVar Annotator: match by null
ClinVar PMID:10484783 PMID:10845615 PMID:11095597 PMID:11317367 PMID:11527933 PMID:11694261 PMID:12764676 PMID:15183808 PMID:15863674 PMID:15994872 PMID:16597330 PMID:19933189 PMID:19956407 PMID:20664799 PMID:21147909 PMID:22052604 PMID:22317909 PMID:22334370 PMID:22917891 PMID:23105016 PMID:24033266 PMID:24265693 PMID:24339724 PMID:25088982 PMID:25097241 PMID:25472526 PMID:25692139 PMID:25741868 PMID:26355662 PMID:26497376 PMID:27391102 PMID:27623337 PMID:28041643 PMID:28224992 PMID:28492532 PMID:29425069 PMID:29785639 PMID:30027431 PMID:30054919 PMID:30337596 PMID:30718709 PMID:30731082 PMID:30913292 PMID:31253780 PMID:31833436, PMID:23701314 RGD:8547535 NCBI chr 5:15,005,028...15,060,508
Ensembl chr 5:15,043,955...15,060,508
JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar PMID:22277662 PMID:26355662 PMID:31833436 NCBI chr15:47,344,380...47,384,461
Ensembl chr15:47,373,120...47,383,508
JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar PMID:9697692 PMID:10053026 PMID:10090907 PMID:10862093 PMID:10937588 PMID:10942419 PMID:11262649 PMID:11992260 PMID:12657579 PMID:15032968 PMID:20625056 PMID:22334370 PMID:23150612 PMID:24033266 PMID:25097241 PMID:25741868 PMID:26355662 PMID:28041643 PMID:28492532 PMID:30718709, PMID:10937588 RGD:1599605 NCBI chr  X:2,066,298...2,116,661
Ensembl chr  X:2,064,486...2,116,656
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 PMID:17110909 PMID:23647439 PMID:28492532 NCBI chr 8:23,450,111...23,482,939
Ensembl chr 8:23,450,111...23,482,939
JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 treatment ISO 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 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
PMID:9501220 PMID:10090910 PMID:10766140 PMID:10937591 PMID:11095629 PMID:11462243 PMID:11786058 PMID:12960219 PMID:13616783 PMID:14971589 PMID:15024725 PMID:15557452 PMID:16123440 PMID:16150724 PMID:16272259 PMID:16754667 PMID:16968212 PMID:17964524 PMID:18539930 PMID:18682808 PMID:18722466 PMID:19117922 PMID:19431183 PMID:19753312 PMID:19920137 PMID:20079931 PMID:20683928 PMID:20811047 PMID:21153841 PMID:21602930 PMID:23105016 PMID:23591405 PMID:24265693 PMID:24849605 PMID:25257057 PMID:25495949 PMID:25741868 PMID:25752820 PMID:26047050 PMID:26355662 PMID:26626312 PMID:26906952 PMID:27102010 PMID:27874104 PMID:28492532 PMID:29332120 PMID:29681726 PMID:29785639 PMID:30311386 PMID:30718709 PMID:30870047 PMID:31725702, PMID:23701314, PMID:21654732, PMID:20164818 RGD:8547535, RGD:9585650, RGD:9585645 NCBI chr 2:266,141,581...266,169,197
Ensembl chr 2:266,141,581...266,169,197
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
ClinVar
CTD
PMID:8817343 PMID:10094550 PMID:10932196 PMID:11992260 PMID:12920075 PMID:17480003 PMID:25741868 PMID:28041643 PMID:28492532 PMID:30311386 PMID:30718709, PMID:11968081, PMID:23701314, PMID:16055928, PMID:10937588 RGD:1599602, RGD:8547535, RGD:1599600, RGD:1599605 NCBI chr  X:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16272259 PMID:28041643, PMID:12920076 RGD:1599581 NCBI chr15:28,521,287...28,575,046
Ensembl chr15:28,522,737...28,574,737
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
PMID:9501883 PMID:9565049 PMID:18175313 PMID:20981092 PMID:22995991 PMID:24265693 PMID:25741868 PMID:28492532 PMID:30311386 PMID:30718709, PMID:23701314 RGD:8547535 NCBI chr 9:94,926,901...94,972,162
Ensembl chr 9:94,928,489...94,972,027
JBrowse link
G Scaper S-phase cyclin A-associated protein in the ER ISO ClinVar Annotator: match by term: Syndromic retinitis pigmentosa ClinVar PMID:28794130 PMID:32214227 NCBI chr 8:60,127,039...60,593,568
Ensembl chr 8:60,126,624...60,570,058
JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive
ClinVar 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 PMID:28492532 NCBI chr 2:187,799,568...187,823,014
Ensembl chr 2:187,799,568...187,822,997
JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO human gene in a rat model RGD PMID:18837062 RGD:8554900 NCBI chr10:62,241,750...62,254,145
Ensembl chr10:62,241,756...62,254,287
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:28041643 PMID:28492532 PMID:29977801 PMID:30311386 NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar NCBI chr 8:70,409,683...70,438,352
Ensembl chr 8:70,408,528...70,436,028
JBrowse link
G Slc6a6 solute carrier family 6 member 6 ISS OMIM:268000 MouseDO NCBI chr 4:123,638,619...123,713,469
Ensembl chr 4:123,642,210...123,713,464
JBrowse link
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Pigmentary retinopathy
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
DNA:missense mutation:cds:p.R1090L (human)
DNA:missense mutation:cds:p.S1087V (human)
ClinVar PMID:16612614 PMID:19878916 PMID:21618346 PMID:23887765 PMID:24302620 PMID:24516651 PMID:24940031 PMID:25741868 PMID:26355662 PMID:26720483 PMID:28041643 PMID:28076437 PMID:28492532 PMID:28559085 PMID:30311386 PMID:30360737 PMID:30718709, PMID:19710410, PMID:19878916 RGD:10448280, RGD:10448279 NCBI chr 3:119,640,324...119,669,651
Ensembl chr 3:119,640,298...119,669,639
JBrowse link
G Snx17 sorting nexin 17 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant ClinVar NCBI chr 6:26,541,137...26,546,650
Ensembl chr 6:26,541,138...26,546,545
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 chr11:30,363,282...30,368,858
Ensembl chr11:30,363,280...30,368,862
JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:19293779 RGD:8158049 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
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:19268277 PMID:25741868 PMID:26355662 PMID:28481129 PMID:28492532 NCBI chr 6:122,603,248...122,648,718
Ensembl chr 6:122,603,269...122,648,699
JBrowse link
G Tfpt TCF3 fusion partner ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant ClinVar NCBI chr 1:64,162,525...64,172,307
Ensembl chr 1:64,162,672...64,172,470
JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Pigmentary retinopathy
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
ClinVar PMID:18509552 PMID:19373681 PMID:22334370 PMID:25741868 PMID:28041643 PMID:28492532 PMID:30311386 PMID:30718709 NCBI chr 5:56,554,956...56,566,503
Ensembl chr 5:56,554,969...56,567,320
JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr 1:124,983,391...125,101,759
Ensembl chr 1:124,983,452...125,099,573
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 PMID:30718709 NCBI chr 6:122,920,308...122,974,525
Ensembl chr 6:122,920,317...122,974,522
JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr 6:109,693,915...109,910,479
Ensembl chr 6:109,710,781...109,879,607
JBrowse link
G Ttpa alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10896705 NCBI chr 5:34,007,926...34,029,315
Ensembl chr 5:34,007,920...34,028,452
JBrowse link
G Tulp1 TUB like protein 1 ISO RP14,OMIM:600132;DNA:point mutations:exon:R420P, F491L,I459K
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 Annotator: match by null
ClinVar PMID:9462750 PMID:9660588 PMID:10440267 PMID:15557452 PMID:17962469 PMID:18936139 PMID:23105016 PMID:24033266 PMID:25342276 PMID:25741868 PMID:26355662 PMID:26766544 PMID:28127548 PMID:28492532 PMID:28981474 PMID:30054919 PMID:30718709, PMID:9462750, PMID:23701314 RGD:1624352, RGD:8547535 NCBI chr20:7,931,673...7,943,601
Ensembl chr20:7,931,674...7,943,575
JBrowse link
G Unc119 unc-119 lipid binding chaperone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11006213 NCBI chr10:65,606,919...65,612,324
Ensembl chr10:65,606,898...65,612,324
JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Pigmentary retinopathy
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 PMID:12702164 PMID:17407589 PMID:21569298 PMID:22135276 PMID:23251578 PMID:24033266 PMID:25741868 PMID:26969326 PMID:28041643 PMID:28492532 PMID:30311386 PMID:30718709, PMID:20212494 RGD:8547536 NCBI chr 1:102,207,096...102,256,779
Ensembl chr 1:102,207,096...102,255,459
JBrowse link
G Ush1g USH1 protein network component sans ISO RGD PMID:20212494 RGD:8547536 NCBI chr10:103,866,566...103,873,416
Ensembl chr10:103,869,377...103,873,246
JBrowse link
G Ush2a usherin susceptibility ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Pigmentary retinopathy
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
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
PMID:1968399 PMID:9624053 PMID:10090909 PMID:10729113 PMID:10738000 PMID:10775529 PMID:10909849 PMID:11311042 PMID:11402400 PMID:12112664 PMID:12427073 PMID:12525556 PMID:12786748 PMID:14676276 PMID:14970843 PMID:15015129 PMID:15025721 PMID:15043528 PMID:15241801 PMID:15325563 PMID:15326663 PMID:15823922 PMID:16098008 PMID:16963483 PMID:17085681 PMID:17296898 PMID:17405132 PMID:18273898 PMID:18281613 PMID:18463160 PMID:18484607 PMID:18641288 PMID:18665195 PMID:19023448 PMID:19683999 PMID:19737284 PMID:19881469 PMID:20052763 PMID:20145675 PMID:20301515 PMID:20309401 PMID:20440071 PMID:20497194 PMID:20507924 PMID:20513143 PMID:20591486 PMID:20596040 PMID:20801516 PMID:21147909 PMID:21151602 PMID:21174530 PMID:21228398 PMID:21234346 PMID:21569298 PMID:21593743 PMID:21686329 PMID:21738395 PMID:22004887 PMID:22009552 PMID:22025579 PMID:22135276 PMID:22334370 PMID:22495311 PMID:22581970 PMID:22952768 PMID:23352160 PMID:23591405 PMID:23661368 PMID:23755871 PMID:23804846 PMID:23924366 PMID:23940504 PMID:23967202 PMID:23991284 PMID:24033266 PMID:24043777 PMID:24088041 PMID:24154662 PMID:24160897 PMID:24164807 PMID:24265693 PMID:24498627 PMID:24516651 PMID:24603341 PMID:24607488 PMID:24625443 PMID:24853665 PMID:24901346 PMID:24938718 PMID:24944099 PMID:25078356 PMID:25097241 PMID:25133613 PMID:25133751 PMID:25261458 PMID:25262649 PMID:25324289 PMID:25326637 PMID:25333064 PMID:25356976 PMID:25366773 PMID:25375654 PMID:25404053 PMID:25412400 PMID:25445212 PMID:25468891 PMID:25472526 PMID:25521520 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25649381 PMID:25741868 PMID:25823529 PMID:25910913 PMID:25999674 PMID:26261414 PMID:26306921 PMID:26310143 PMID:26338283 PMID:26346818 PMID:26355662 PMID:26416264 PMID:26467025 PMID:26633545 PMID:26667666 PMID:26764160 PMID:26806561 PMID:26856745 PMID:26872967 PMID:26927203 PMID:26969326 PMID:27032803 PMID:27057829 PMID:27157150 PMID:27160483 PMID:27208204 PMID:27460420 PMID:27596865 PMID:27957503 PMID:28041643 PMID:28127548 PMID:28130426 PMID:28157192 PMID:28281779 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28761320 PMID:28838317 PMID:28894305 PMID:28944237 PMID:28981474 PMID:29074561 PMID:29293505 PMID:29625443 PMID:29641573 PMID:29767709 PMID:29785639 PMID:29899460 PMID:29912909 PMID:29953849 PMID:30054919 PMID:30190494 PMID:30245029 PMID:30280194 PMID:30311386 PMID:30543658 PMID:30718709 PMID:30872814 PMID:30948794, PMID:23701314, PMID:10775529, PMID:20507924, PMID:20309401 RGD:8547535, RGD:8547967, RGD:8547966, RGD:8547963 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:eye: RGD PMID:18326689 RGD:7483592 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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 7:74,118,834...74,722,341 JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar NCBI chr 6:108,285,031...108,308,588
Ensembl chr 6:108,285,822...108,308,587
JBrowse link
G Wdr19 WD repeat domain 19 ISO DNA:missense mutation:cds:p.L710S (human) RGD PMID:23683095 RGD:11552600 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
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 PMID:17980398 PMID:18032602 PMID:18669544 PMID:18766993 PMID:20498079 PMID:21052717 PMID:21642631 PMID:22581970 PMID:22940089 PMID:23143442 PMID:23565731 PMID:23847139 PMID:23943788 PMID:24033266 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26872967 PMID:27032803 PMID:27659767 PMID:28041643 PMID:28492532 PMID:29264490 PMID:30614526 PMID:30718709 NCBI chr 1:220,137,280...220,143,387
Ensembl chr 1:220,137,257...220,144,319
JBrowse link
G Zfp513 zinc finger protein 513 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar PMID:20227676 PMID:20797688 PMID:25741868 PMID:28492532 NCBI chr 6:26,537,707...26,541,051
Ensembl chr 6:26,537,707...26,541,048
JBrowse link
G Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant
ClinVar PMID:15258582 PMID:15322982 PMID:16269441 PMID:17389517 PMID:17512964 PMID:18779497 PMID:19011012 PMID:20683928 PMID:21151602 PMID:22065924 PMID:23847139 PMID:24474277 PMID:25412400 PMID:25494902 PMID:25741868 PMID:26047050 PMID:26103963 PMID:26667666 PMID:28041643 PMID:28492532 PMID:28559085 PMID:30311386 PMID:30718709 NCBI chr 6:102,409,235...102,472,962
Ensembl chr 6:102,409,881...102,472,926
JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa ClinVar PMID:28095122 NCBI chr 3:80,549,102...80,555,186 JBrowse link
Alstrom syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alms1 ALMS1, centrosome and basal body associated protein susceptibility ISO DNA:frameshift mutations, nonsense mutations
ClinVar Annotator: match by term: Alstrom syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:203800
DNA:frameshift mutations, nonsense mutations, missense mutations:multiple
DNA:nonsense mutations, frameshift mutation, missense mutation:multiple
ClinVar
CTD
OMIM
PMID:9063741 PMID:9409865 PMID:11941369 PMID:11941370 PMID:15689433 PMID:16720663 PMID:17594715 PMID:17850632 PMID:18038714 PMID:18154657 PMID:18414213 PMID:19763152 PMID:20307669 PMID:21157496 PMID:21877133 PMID:21897446 PMID:21901789 PMID:21943378 PMID:22406018 PMID:22447358 PMID:22555271 PMID:22773737 PMID:22876109 PMID:23188138 PMID:23847139 PMID:24033266 PMID:24049434 PMID:24400638 PMID:24462884 PMID:24595103 PMID:25296579 PMID:25468891 PMID:25533962 PMID:25706677 PMID:25741868 PMID:25846608 PMID:25999675 PMID:26010121 PMID:26047050 PMID:26104972 PMID:26111748 PMID:26239645 PMID:26283575 PMID:26285675 PMID:26467025 PMID:26636822 PMID:26992781 PMID:27178444 PMID:27665122 PMID:28402684 PMID:28432734 PMID:28492532 PMID:28502102 PMID:28717663 PMID:29079548 PMID:29345162 PMID:29610177 PMID:29715191 PMID:32581362, PMID:11941369, PMID:16720663, PMID:22876109, PMID:16000322, PMID:16513793 RGD:1601169, RGD:8696018, RGD:8696016, RGD:8696015, RGD:8696013 NCBI chr 4:117,371,544...117,472,310
Ensembl chr 4:117,371,659...117,472,198
JBrowse link
Amaurosis Hypertrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:43,049,587...43,088,690
Ensembl chr 9:43,049,587...43,088,702
JBrowse link
Chromosome Xp11.3 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rp2 RP2 activator of ARL3 GTPase ISO OMIM NCBI chr  X:2,066,298...2,116,661
Ensembl chr  X:2,064,486...2,116,656
JBrowse link
Cone Dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Cone dystrophy 4 OMIM
ClinVar
PMID:10393054 PMID:18614542 PMID:19615668 PMID:25326637 PMID:25741868 PMID:28492532 PMID:30080950 NCBI chr 1:256,822,099...256,885,879
Ensembl chr 1:256,822,334...256,877,810
JBrowse link
cone-rod dystrophy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Cone-rod dystrophy 10
ClinVar Annotator: match by OMIM:610283
OMIM
ClinVar
PMID:16199541 PMID:24033266 PMID:25307848 PMID:25741868 PMID:26103963 PMID:28492532 NCBI chr 2:187,799,568...187,823,014
Ensembl chr 2:187,799,568...187,822,997
JBrowse link
cone-rod dystrophy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 12
ClinVar Annotator: match by OMIM:612657
OMIM
ClinVar
PMID:10205271 PMID:12657606 PMID:18654668 PMID:19718270 PMID:20393116 PMID:20859302 PMID:22183351 PMID:22581970 PMID:24154662 PMID:24265693 PMID:24474277 PMID:25356976 PMID:25741868 PMID:25910913 PMID:25999674 PMID:26103963 PMID:26161267 PMID:26261540 PMID:26355662 PMID:26393467 PMID:26702251 PMID:27874104 PMID:28041643 PMID:28492532 PMID:28559085 PMID:29847639 PMID:30718709 NCBI chr14:71,532,321...71,637,400
Ensembl chr14:71,533,063...71,637,417
JBrowse link
cone-rod dystrophy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13
ClinVar Annotator: match by OMIM:608194
OMIM
ClinVar
PMID:11283794 PMID:11528500 PMID:12920076 PMID:14971589 PMID:15800011 PMID:16123401 PMID:16339905 PMID:16374347 PMID:17964524 PMID:18055816 PMID:20079931 PMID:21153841 PMID:21224891 PMID:21857984 PMID:22025579 PMID:22277662 PMID:23105016 PMID:23847139 PMID:24123792 PMID:24265693 PMID:24997176 PMID:25326637 PMID:25445212 PMID:25741868 PMID:26047050 PMID:26667666 PMID:26872967 PMID:26893459 PMID:27884173 PMID:28041643 PMID:28492532 PMID:28559085 PMID:28714225 PMID:29178642 PMID:30202406 PMID:30576320 PMID:32860008 NCBI chr15:28,521,287...28,575,046
Ensembl chr15:28,522,737...28,574,737
JBrowse link
cone-rod dystrophy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Cone dystrophy 3
ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 14
ClinVar PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr 4:151,298,548...151,409,263
Ensembl chr 4:151,298,548...151,409,263
JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Cone dystrophy 3
ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 14
OMIM
ClinVar
PMID:9425234 PMID:9651312 PMID:9702199 PMID:11146732 PMID:11484154 PMID:15505030 PMID:15735604 PMID:15790869 PMID:15953638 PMID:18706439 PMID:19459154 PMID:24024198 PMID:24352742 PMID:25741868 PMID:26358777 PMID:26766544 PMID:28025326 PMID:28041643 PMID:28442884 PMID:28492532 PMID:30184081 PMID:30622141 PMID:30718709 PMID:31728034 PMID:31979372 PMID:32025184 NCBI chr 9:15,609,804...15,620,030
Ensembl chr 9:15,609,804...15,620,029
JBrowse link
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 14 ClinVar PMID:15505030 PMID:25741868 PMID:28492532 NCBI chr 9:15,621,083...15,629,017
Ensembl chr 9:15,621,083...15,629,017
JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar PMID:23885164 PMID:25741868 NCBI chr 1:245,396,880...245,475,011
Ensembl chr 1:245,396,989...245,416,531
JBrowse link
G LOC100912849 uncharacterized LOC100912849 ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar NCBI chr 9:15,580,166...15,604,282
Ensembl chr 9:15,582,564...15,604,100
JBrowse link
G Pde6h phosphodiesterase 6H ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar NCBI chr 4:170,947,723...170,963,046
Ensembl chr 4:170,958,196...170,963,046
JBrowse link
cone-rod dystrophy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MGC94199 similar to RIKEN cDNA 2610301B20; EST AI428449 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 16
ClinVar Annotator: match by term: Retinitis pigmentosa 64
ClinVar Annotator: match by OMIM:614500
OMIM
ClinVar
PMID:22177090 PMID:25802487 PMID:26355662 PMID:26854863 PMID:26865426 PMID:27008867 PMID:28492532 NCBI chr 5:24,145,829...24,165,467
NCBI chr 5:23,358,464...23,377,697
Ensembl chr 5:23,358,841...23,377,651
Ensembl chr 5:23,358,841...23,377,651
JBrowse link
cone-rod dystrophy 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 19 OMIM
ClinVar
PMID:24791901 NCBI chr 6:109,693,915...109,910,479
Ensembl chr 6:109,710,781...109,879,607
JBrowse link
cone-rod dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 ClinVar PMID:25741868 NCBI chr10:58,599,690...58,631,194
Ensembl chr10:58,599,856...58,608,907
JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:120970
OMIM
ClinVar
PMID:9390563 PMID:9427255 PMID:9792858 PMID:10766140 PMID:11139241 PMID:11748859 PMID:11971869 PMID:15531334 PMID:16123401 PMID:17964524 PMID:18682808 PMID:22960069 PMID:23049240 PMID:24265693 PMID:25741868 PMID:26355662 PMID:28492532 PMID:29068479 PMID:30543658 PMID:30718709 PMID:31215831 NCBI chr 1:77,744,593...77,758,913
Ensembl chr 1:77,745,288...77,750,960
JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2
ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2
ClinVar PMID:10205271 PMID:19718270 PMID:24154662 PMID:25741868 PMID:25999674 PMID:26103963 PMID:26153215 PMID:26261540 PMID:27874104 PMID:28041643 PMID:28492532 NCBI chr14:71,532,321...71,637,400
Ensembl chr14:71,533,063...71,637,417
JBrowse link
cone-rod dystrophy 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Poc1b POC1 centriolar protein B ISO ClinVar Annotator: match by term: Cone-rod dystrophy 20 OMIM
ClinVar
PMID:24945461 PMID:25018096 PMID:25044745 PMID:25741868 PMID:28492532 NCBI chr 7:41,304,119...41,404,360
Ensembl chr 7:41,304,440...41,404,370
JBrowse link
Cone-Rod Dystrophy 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dram2 DNA-damage regulated autophagy modulator 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 21 OMIM
ClinVar
PMID:25983245 PMID:28492532 NCBI chr 2:209,160,901...209,189,641
Ensembl chr 2:209,161,047...209,188,622
JBrowse link
cone-rod dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 3
ClinVar Annotator: match by OMIM:604116
OMIM
ClinVar
PMID:8002831 PMID:9054934 PMID:9295268 PMID:9466990 PMID:9490294 PMID:9503029 PMID:9666097 PMID:9781034 PMID:9973280 PMID:10090887 PMID:10206579 PMID:10396622 PMID:10413692 PMID:10458172 PMID:10612508 PMID:10634594 PMID:10711710 PMID:10880298 PMID:10958763 PMID:11017087 PMID:11123914 PMID:11328725 PMID:11379881 PMID:11385708 PMID:11527935 PMID:11702214 PMID:11726554 PMID:11919200 PMID:11973624 PMID:12037008 PMID:12192456 PMID:12515255 PMID:12592048 PMID:12796258 PMID:14709597 PMID:15161829 PMID:15192030 PMID:15494742 PMID:15516930 PMID:15579991 PMID:15614537 PMID:16103129 PMID:16123440 PMID:16303926 PMID:16400609 PMID:16546111 PMID:16682602 PMID:17277736 PMID:17296903 PMID:17325136 PMID:17982420 PMID:18285826 PMID:18414213 PMID:18854780 PMID:18977788 PMID:19074458 PMID:19217903 PMID:19230850 PMID:20554613 PMID:20647261 PMID:20696155 PMID:20981092 PMID:21786275 PMID:21911583 PMID:22025579 PMID:22229821 PMID:22264887 PMID:22312191 PMID:22328824 PMID:22427542 PMID:22449572 PMID:22661472 PMID:22661473 PMID:22968130 PMID:23143460 PMID:23144455 PMID:23419329 PMID:23443024 PMID:23591405 PMID:23695285 PMID:23755871 PMID:23769331 PMID:23776498 PMID:23953153 PMID:23982839 PMID:24011517 PMID:24033266 PMID:24082139 PMID:24154662 PMID:24265693 PMID:24444108 PMID:24453473 PMID:24509150 PMID:24632595 PMID:24713488 PMID:24763286 PMID:25066811 PMID:25082885 PMID:25087612 PMID:25097241 PMID:25283059 PMID:25312043 PMID:25333069 PMID:25412400 PMID:25472526 PMID:25525159 PMID:25544989 PMID:25640233 PMID:25698705 PMID:25712131 PMID:25741868 PMID:25910913 PMID:25921964 PMID:26161775 PMID:26247787 PMID:26261413 PMID:26355662 PMID:26527198 PMID:26593885 PMID:26872967 PMID:26976702 PMID:27032803 PMID:27491360 PMID:27535533 PMID:27583828 PMID:27775217 PMID:27939946 PMID:28041643 PMID:28118664 PMID:28181551 PMID:28327576 PMID:28446513 PMID:28492532 PMID:28559085 PMID:28947085 PMID:29114839 PMID:29162642 PMID:29310964 PMID:29343940 PMID:29461686 PMID:29555955 PMID:29847635 PMID:29854428 PMID:29925512 PMID:29971439 PMID:29975949 PMID:30060493 PMID:30093795 PMID:30311386 PMID:30576320 PMID:30718709 PMID:31576780 PMID:92952680 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
cone-rod dystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pimreg PICALM interacting mitotic regulator ISO ClinVar Annotator: match by term: Cone-rod dystrophy 5 ClinVar NCBI chr10:58,613,588...58,618,524
Ensembl chr10:58,613,674...58,618,514
JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 5 OMIM
ClinVar
PMID:8586428 PMID:17377520 PMID:22405330 PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr10:58,618,679...58,722,679
Ensembl chr10:58,618,645...58,693,754
JBrowse link
cone-rod dystrophy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar NCBI chr 1:226,033,146...226,049,893
Ensembl chr 1:226,030,875...226,049,929
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Retinal cone dystrophy 2
ClinVar Annotator: match by term: Cone-rod dystrophy 6
ClinVar Annotator: match by OMIM:601777
OMIM
ClinVar
PMID:8554074 PMID:8944027 PMID:9618177 PMID:9683616 PMID:10636733 PMID:10676808 PMID:10766140 PMID:10951519 PMID:11115851 PMID:11328726 PMID:11565546 PMID:12552567 PMID:15024725 PMID:15111605 PMID:15175914 PMID:16123401 PMID:16505055 PMID:17724218 PMID:17964524 PMID:18055816 PMID:18055820 PMID:20050595 PMID:20079931 PMID:20517349 PMID:20683928 PMID:21602930 PMID:22695961 PMID:23035049 PMID:24033266 PMID:24875811 PMID:24997176 PMID:25477517 PMID:25741868 PMID:26047050 PMID:26253563 PMID:26298565 PMID:26355662 PMID:26626312 PMID:27375279 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28838317 PMID:29061346 PMID:29068479 PMID:29178642 PMID:29559409 PMID:30311386 PMID:30718709 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
JBrowse link
cone-rod dystrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 7
ClinVar Annotator: match by OMIM:603649
OMIM
ClinVar
PMID:9634506 PMID:12659814 PMID:23591405 PMID:25741868 PMID:28492532 NCBI chr 9:28,440,408...28,973,246
Ensembl chr 9:28,442,229...28,973,246
JBrowse link
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness ClinVar PMID:9628581 PMID:11477603 PMID:12730828 PMID:15141358 PMID:15498460 PMID:16648375 PMID:17990063 PMID:18414213 PMID:19006247 PMID:20656880 PMID:20683995 PMID:20921020 PMID:21418059 PMID:22382802 PMID:23352163 PMID:23757202 PMID:24033266 PMID:25502226 PMID:25741868 PMID:26104215 PMID:26133662 PMID:26395554 PMID:26443248 PMID:26467025 PMID:27175599 PMID:27353947 PMID:27829003 PMID:28041643 PMID:28492532 NCBI chr 7:74,118,834...74,722,341 JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scaper S-phase cyclin A-associated protein in the ER ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA ClinVar
OMIM
PMID:28794130 PMID:32214227 NCBI chr 8:60,127,039...60,593,568
Ensembl chr 8:60,126,624...60,570,058
JBrowse link
isolated microphthalmia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Microphthalmia, isolated 5
ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
ClinVar PMID:1258954 PMID:12140190 PMID:15976030 PMID:17167404 PMID:18554571 PMID:18648522 PMID:19169412 PMID:19753314 PMID:20361016 PMID:21670352 PMID:22142163 PMID:22605927 PMID:22892318 PMID:23112574 PMID:23143909 PMID:23742260 PMID:24088041 PMID:24531000 PMID:25097241 PMID:25412400 PMID:25741868 PMID:26583794 PMID:26633545 PMID:28492532 PMID:29170418 PMID:29450879 PMID:30181649 NCBI chr 8:48,443,515...48,445,639
Ensembl chr 8:48,443,767...48,445,637
JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Microphthalmia, isolated 5
ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen
DNA:deletion,nonsense mutation:exons:p.N167TfsX25,p.Y317X(human)
ClinVar Annotator: match by OMIM:611040
OMIM
ClinVar
PMID:1258954 PMID:12140190 PMID:15976030 PMID:17167404 PMID:18554571 PMID:18648522 PMID:19169412 PMID:19753314 PMID:20361016 PMID:21670352 PMID:22142163 PMID:22605927 PMID:22892318 PMID:23112574 PMID:23143909 PMID:23742260 PMID:24088041 PMID:24531000 PMID:25097241 PMID:25412400 PMID:25741868 PMID:26583794 PMID:26633545 PMID:28492532 PMID:29170418 PMID:29450879 PMID:30181649, PMID:19753314 RGD:11553925 NCBI chr 8:48,437,720...48,443,421
Ensembl chr 8:48,437,918...48,443,421
JBrowse link
Jalili syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: Jalili syndrome OMIM
ClinVar
PMID:3236352 PMID:15173235 PMID:19200525 PMID:19200527 PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr 9:43,049,587...43,088,690
Ensembl chr 9:43,049,587...43,088,702
JBrowse link
Kearns-Sayre syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961
JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Kearns Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO RGD PMID:23406886 RGD:7241824 NCBI chr14:63,095,291...63,190,688
Ensembl chr14:63,095,720...63,187,009
JBrowse link
G Tfam transcription factor A, mitochondrial ISS OMIM:530000 MouseDO NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
JBrowse link
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: Leber congenital amaurosis 14
ClinVar Annotator: match by synonym: RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:11381255 PMID:17011878 PMID:18055821 PMID:22025579 PMID:25741868 PMID:28492532 NCBI chr 2:181,896,304...181,905,366
Ensembl chr 2:181,896,305...181,905,300
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:19268277 PMID:20104588 PMID:21310915 PMID:22136677 PMID:22334370 PMID:23847139 PMID:24033266 PMID:24938718 PMID:25133751 PMID:26047050 PMID:26261414 PMID:26854980 PMID:28481129 PMID:28492532 NCBI chr 6:122,603,248...122,648,718
Ensembl chr 6:122,603,269...122,648,699
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:17564970 PMID:19177532 PMID:25227500 PMID:25741868 PMID:26681805 PMID:28492532 PMID:28586915 PMID:31597037 NCBI chr 2:127,706,618...127,784,129
Ensembl chr 2:127,699,761...127,781,003
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:28285769 PMID:28492532 NCBI chr 2:34,716,420...34,923,060
Ensembl chr 2:34,719,344...34,923,024
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
PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:3612192 PMID:8042671 PMID:8095070 PMID:8190310 PMID:8250532 PMID:8395787 PMID:8602753 PMID:8644724 PMID:8750605 PMID:9199572 PMID:9329425 PMID:9556461 PMID:9568930 PMID:9762610 PMID:9883875 PMID:10590437 PMID:10660580 PMID:10676807 PMID:10889120 PMID:11076946 PMID:11371515 PMID:11730668 PMID:11751691 PMID:11843698 PMID:11916326 PMID:11925565 PMID:14998933 PMID:16049925 PMID:17452590 PMID:18055910 PMID:19124644 PMID:19667215 PMID:24088041 PMID:25741868 PMID:26633545 PMID:27129022 PMID:32313153, PMID:11843698 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:10102299 PMID:11868161 PMID:28492532 NCBI chr 1:141,097,789...141,111,375
Ensembl chr 1:141,097,695...141,111,400
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: Oliver-McFarlane syndrome
ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
ClinVar
OMIM
PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:24355708 PMID:25480986 PMID:28492532 NCBI chr12:2,068,749...2,098,139
Ensembl chr12:2,069,959...2,097,904
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 PMID:26257172 PMID:26467025 PMID:28492532 PMID:29571850 NCBI chr 3:146,630,298...146,690,375
Ensembl chr 3:146,630,299...146,690,375
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 PMID:22483575 PMID:23591405 PMID:25741868 PMID:26467025 PMID:27353947 PMID:28492532 PMID:28559085 PMID:30444160 PMID:30656474 NCBI chr13:109,624,167...109,629,609
Ensembl chr13:109,578,074...109,629,482
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 6:109,617,348...109,681,495
Ensembl chr 6:109,617,355...109,681,495
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:27472364 PMID:30311386 NCBI chr 4:170,947,723...170,963,046
Ensembl chr 4:170,958,196...170,963,046
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 electroretinogram
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 RESPONSES
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 PMID:21402906 PMID:21882291 PMID:21911584 PMID:23115240 PMID:23725738 PMID:23885164 PMID:25741868 PMID:28041643 PMID:28224992 PMID:28492532 PMID:30718709 NCBI chr 1:245,396,880...245,475,011
Ensembl chr 1:245,396,989...245,416,531
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 PMID:26560832 PMID:28041643 PMID:28492532 PMID:30718709 NCBI chr 4:151,298,548...151,409,263
Ensembl chr 4:151,298,548...151,409,263
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 PMID:10465120 PMID:10845615 PMID:11527933 PMID:15863674 PMID:15994872 PMID:19933189 PMID:21147909 PMID:22317909 PMID:24265693 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29425069 PMID:29847639 PMID:30027431 PMID:30054919 PMID:30718709 NCBI chr 5:15,005,028...15,060,508
Ensembl chr 5:15,043,955...15,060,508
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 PMID:21791244 PMID:25741868 PMID:26720483 PMID:28492532 PMID:28945494 NCBI chr 4:56,478,383...56,493,987
Ensembl chr 4:56,478,384...56,493,923
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 PMID:12923864 PMID:16708387 PMID:17325180 PMID:17412961 PMID:19293337 PMID:19618371 PMID:25741868 PMID:26781568 NCBI chr 1:64,150,786...64,162,461
Ensembl chr 1:64,150,786...64,162,461
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:17964524 PMID:28492532 NCBI chr13:56,546,021...56,591,793
Ensembl chr13:56,546,021...56,591,793
JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA WITH OR WITHOUT PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM
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:10508521 PMID:11231775 PMID:11389483 PMID:12567265 PMID:12700176 PMID:12843338 PMID:14971589 PMID:15024725 PMID:15459956 PMID:15623792 PMID:16123401 PMID:16272259 PMID:16505055 PMID:16543197 PMID:16936081 PMID:17128490 PMID:17297678 PMID:17525851 PMID:17660513 PMID:17724218 PMID:17964524 PMID:18055816 PMID:18682808 PMID:19140180 PMID:19339744 PMID:19401883 PMID:19763152 PMID:20079931 PMID:20301475 PMID:20307669 PMID:20591486 PMID:20683928 PMID:20956273 PMID:21602930 PMID:21757580 PMID:22065545 PMID:22164218 PMID:22406018 PMID:22968130 PMID:23105016 PMID:23379534 PMID:23449718 PMID:23462753 PMID:23591405 PMID:23592920 PMID:23661368 PMID:23847139 PMID:24033266 PMID:24265693 PMID:24512366 PMID:24535598 PMID:24715753 PMID:24938718 PMID:25097241 PMID:25133751 PMID:25326637 PMID:25356976 PMID:25412400 PMID:25474345 PMID:25741868 PMID:26047050 PMID:26147992 PMID:26667666 PMID:26914788 PMID:26957898 PMID:27096895 PMID:27113771 PMID:27157150 PMID:27208204 PMID:27258436 PMID:27380427 PMID:27628848 PMID:27670293 PMID:27806333 PMID:28041643 PMID:28129017 PMID:28181551 PMID:28341475 PMID:28492532 PMID:28512305 PMID:28559085 PMID:28819299 PMID:29068479 PMID:29178642 PMID:29186038 PMID:29200130 PMID:29391521 PMID:29641573 PMID:29844330 PMID:30029497 PMID:30311386 PMID:30576320 PMID:30718709 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
JBrowse link
G Zbtb41 zinc finger and BTB domain containing 41 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 12 ClinVar PMID:17964524 PMID:28492532 NCBI chr13:56,513,231...56,542,444
Ensembl chr13:56,513,286...56,537,142
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:17061239 PMID:20232351 PMID:22039234 PMID:23950152 PMID:24938718 PMID:25741868 PMID:28492532 PMID:28515276 NCBI chr10:63,635,239...63,658,360
Ensembl chr10:63,635,219...63,658,361
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 chr10:63,635,239...63,658,360
Ensembl chr10:63,635,219...63,658,361
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:9462750 PMID:9462751 PMID:10440267 PMID:15024725 PMID:15557452 PMID:17620573 PMID:18055821 PMID:18936139 PMID:23105016 PMID:25342276 PMID:25741868 PMID:26355662 PMID:28492532 PMID:30054919 NCBI chr20:7,931,673...7,943,601
Ensembl chr20:7,931,674...7,943,575
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 Annotator: match by OMIM:600852
OMIM
ClinVar
PMID:7581389 PMID:9385361 PMID:15090652 PMID:15295099 PMID:15563508 PMID:17652713 PMID:20626030 PMID:25741868 PMID:28492532 NCBI chr10:72,272,286...72,281,069
Ensembl chr10:72,272,248...72,281,067
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 PMID:20811066 PMID:25741868 PMID:28492532 PMID:28559085 NCBI chr 2:197,947,010...197,971,464
Ensembl chr 2:197,947,010...197,971,463
JBrowse link
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:8002831 PMID:9054934 PMID:9070931 PMID:9295268 PMID:9425888 PMID:9466990 PMID:9666097 PMID:9781034 PMID:9973280 PMID:10090887 PMID:10206579 PMID:10396622 PMID:10413692 PMID:10634594 PMID:10711710 PMID:10874631 PMID:10958763 PMID:11017087 PMID:11328725 PMID:11379881 PMID:11527935 PMID:11702214 PMID:11726554 PMID:11919200 PMID:12037008 PMID:12192456 PMID:12515255 PMID:12796258 PMID:14709597 PMID:15161829 PMID:15192030 PMID:15494742 PMID:15579991 PMID:16103129 PMID:16303926 PMID:16546111 PMID:16682602 PMID:17277736 PMID:18285826 PMID:18854780 PMID:18977788 PMID:19074458 PMID:19217903 PMID:19230850 PMID:20554613 PMID:20696155 PMID:21786275 PMID:22025579 PMID:22229821 PMID:22264887 PMID:22312191 PMID:22427542 PMID:22661473 PMID:22968130 PMID:23143460 PMID:23419329 PMID:23695285 PMID:23755871 PMID:23769331 PMID:24033266 PMID:24265693 PMID:24453473 PMID:24509150 PMID:24713488 PMID:25082885 PMID:25087612 PMID:25097241 PMID:25283059 PMID:25312043 PMID:25640233 PMID:25698705 PMID:25712131 PMID:25741868 PMID:25921964 PMID:26261413 PMID:26355662 PMID:26527198 PMID:26593885 PMID:26872967 PMID:27032803 PMID:27491360 PMID:27535533 PMID:27583828 PMID:27939946 PMID:28041643 PMID:28118664 PMID:28181551 PMID:28327576 PMID:28446513 PMID:28492532 PMID:28559085 PMID:29114839 PMID:29162642 PMID:29555955 PMID:29847635 PMID:29854428 PMID:29925512 PMID:30060493 PMID:30093795 PMID:30311386 PMID:30718709 PMID:31576780 PMID:92952680 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
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 1:266,287,015...266,333,099
Ensembl chr 1:266,287,017...266,333,105
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:9697692 PMID:10053026 PMID:10090907 PMID:10520237 PMID:10862093 PMID:10937588 PMID:10942419 PMID:11262649 PMID:11462235 PMID:11992260 PMID:12657579 PMID:15032968 PMID:16472755 PMID:18376416 PMID:20021257 PMID:21738648 PMID:22072390 PMID:22334370 PMID:24033266 PMID:25097241 PMID:25741868 PMID:28041643 PMID:28209709 PMID:28492532 PMID:30576320 PMID:30718709 NCBI chr  X:2,066,298...2,116,661
Ensembl chr  X:2,064,486...2,116,656
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
ClinVar Annotator: match by OMIM:613794
OMIM
ClinVar
PMID:9326941 PMID:9501220 PMID:10766140 PMID:10937591 PMID:11035546 PMID:11095629 PMID:11462243 PMID:11786058 PMID:12960219 PMID:13616783 PMID:15512997 PMID:15557452 PMID:16150724 PMID:16754667 PMID:16828753 PMID:17724218 PMID:18055820 PMID:18441371 PMID:18539930 PMID:18632300 PMID:18682808 PMID:19117922 PMID:19431183 PMID:19753312 PMID:19854499 PMID:20079931 PMID:20683928 PMID:21153841 PMID:21211845 PMID:21654732 PMID:24066033 PMID:24265693 PMID:24849605 PMID:25257057 PMID:25495949 PMID:25741868 PMID:25752820 PMID:26626312 PMID:26906952 PMID:27307694 PMID:27535533 PMID:27874104 PMID:28041643 PMID:28041994 PMID:28492532 PMID:29659842 PMID:29681726 PMID:29947567 PMID:30268864 PMID:30311386 PMID:30628748 PMID:30718709 PMID:31379919 NCBI chr 2:266,141,581...266,169,197
Ensembl chr 2:266,141,581...266,169,197
JBrowse link
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 NCBI chr  X:29,562,165...29,602,934
Ensembl chr  X:29,562,165...29,602,925
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 PMID:18976725 PMID:20237254 PMID:20333770 PMID:20537394 PMID:21069908 PMID:22363543 PMID:24474277 PMID:24938718 PMID:25097241 PMID:25133751 PMID:25356976 PMID:25366773 PMID:25741868 PMID:26261414 PMID:26667666 PMID:26787102 PMID:28041643 PMID:28492532 PMID:29550188 PMID:30718709 NCBI chr 9:37,073,514...37,144,027
Ensembl chr 9:37,073,514...37,144,015
JBrowse link
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 OMIM:608380
OMIM
ClinVar
PMID:14681825 PMID:21151602 PMID:22164218 PMID:24043777 PMID:24625443 PMID:25097241 PMID:25741868 PMID:25999674 PMID:26766544 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28559085 PMID:30311386 PMID:30337596 PMID:30718709 PMID:221642182 NCBI chr 3:66,268,835...66,395,615
Ensembl chr 3:66,268,947...66,394,764
JBrowse link
G Itga4 integrin subunit alpha 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 26 ClinVar NCBI chr 3:66,178,745...66,265,547
Ensembl chr 3:66,193,059...66,263,960
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:12796249 PMID:17335001 PMID:17374726 PMID:21981118 PMID:25741868 PMID:28492532 NCBI chr15:34,197,115...34,201,408
Ensembl chr15:34,197,193...34,198,921
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 OMIM
ClinVar
PMID:10507729 PMID:20705278 PMID:20705279 PMID:23167750 PMID:23591405 PMID:24651477 PMID:25007332 PMID:25097241 PMID:25525159 PMID:25741868 PMID:25999674 PMID:26113502 PMID:26355662 PMID:26574802 PMID:28492532 PMID:28559085 PMID:30718709 PMID:31236346 NCBI chr14:107,785,029...107,803,765
Ensembl chr14:107,785,029...107,798,115
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:46,553,745...46,680,769
NCBI chr  X:46,701,342...46,767,826
JBrowse link
G Cybb cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:14,578,330...14,610,049
Ensembl chr  X:14,578,264...14,612,547
JBrowse link
G Dynlt3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:14,633,342...14,642,356
Ensembl chr  X:14,633,342...14,642,424
JBrowse link
G Hypm huntingtin interacting protein M ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:13,989,401...13,989,955
Ensembl chr  X:13,989,401...13,989,955
JBrowse link
G Iqcb1 IQ motif containing B1 severity ISO RGD PMID:22183348, PMID:21857984 RGD:11352374, RGD:11537386 NCBI chr11:66,824,059...66,878,585
Ensembl chr11:66,824,065...66,878,551
JBrowse link
G Lancl3 LanC like 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:14,358,224...14,490,340
Ensembl chr  X:14,358,224...14,490,340
JBrowse link
G LOC691895 similar to ferritin, heavy polypeptide-like 17 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:14,782,958...14,783,792
Ensembl chr  X:14,782,958...14,783,792
JBrowse link
G Mageb16 MAGE family member B16 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:46,977,655...47,026,377
Ensembl chr  X:46,977,655...47,078,128
JBrowse link
G Otc ornithine transcarbamylase ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Prrg1 proline rich and Gla domain 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:45,698,240...45,806,238
Ensembl chr  X:45,698,237...45,806,198
JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar PMID:20625056 PMID:23150612 PMID:28492532 PMID:28714225 NCBI chr  X:2,066,298...2,116,661
Ensembl chr  X:2,064,486...2,116,656
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
PMID:7611300 PMID:8673101 PMID:8817343 PMID:9326322 PMID:9399904 PMID:9488274 PMID:9855162 PMID:10401007 PMID:10482958 PMID:10932196 PMID:10937588 PMID:10970770 PMID:11754050 PMID:11754051 PMID:11857109 PMID:11875055 PMID:11992260 PMID:16387007 PMID:17195164 PMID:17405150 PMID:17480003 PMID:20631154 PMID:25741868 PMID:25741869 PMID:26143542 PMID:28492532, PMID:20021257, PMID:12859409, PMID:9331262, PMID:9855162, PMID:10094550, PMID:10725384, PMID:22563472, PMID:17893654, PMID:12123547, PMID:18361418 RGD:8553233, RGD:8553228, RGD:8553210, RGD:8553208, RGD:8553206, RGD:8553204, RGD:8553202, RGD:8553198, RGD:8553196, RGD:8553229 NCBI chr  X:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
JBrowse link
G Rpgrip1l Rpgrip1-like severity ISO DNA:polymorphism:cds:p.R744Q (rs2302677)(human) RGD PMID:22183348 RGD:11352374 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
G Srpx sushi-repeat-containing protein, X-linked ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:14,146,618...14,220,756
Ensembl chr  X:14,150,038...14,220,662
JBrowse link
G Sytl5 synaptotagmin-like 5 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:13,857,669...14,109,592
Ensembl chr  X:14,019,961...14,109,568
JBrowse link
G Tspan7 tetraspanin 7 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:13,261,551...13,282,886
Ensembl chr  X:13,261,558...13,279,099
JBrowse link
G Xk X-linked Kx blood group ISO ClinVar Annotator: match by term: Retinitis pigmentosa 15 ClinVar NCBI chr  X:14,497,376...14,534,479
Ensembl chr  X:14,498,119...14,534,473
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 PMID:17251446 PMID:18450588 PMID:25741868 PMID:28492532 NCBI chr10:109,528,307...109,540,675
Ensembl chr10:109,533,487...109,540,026
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:28492532 NCBI chr 5:56,554,956...56,566,503
Ensembl chr 5:56,554,969...56,567,320
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 2:211,450,426...211,479,885
Ensembl chr 2:211,450,484...211,479,884
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 PMID:24302620 PMID:24940031 PMID:25741868 PMID:28041643 PMID:28076437 PMID:28492532 PMID:28559085 PMID:30360737 PMID:30718709 NCBI chr 3:119,640,324...119,669,651
Ensembl chr 3:119,640,298...119,669,639
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 NCBI chr 2:187,799,568...187,823,014
Ensembl chr 2:187,799,568...187,822,997
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:28492532 PMID:29785639 NCBI chr10:105,618,325...105,628,091
Ensembl chr10:105,618,326...105,628,091
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:28492532 PMID:29785639 NCBI chr10:105,630,686...105,642,427
Ensembl chr10:105,630,810...105,631,208
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:12963616 PMID:15453866 PMID:15459973 PMID:17564971 PMID:17601449 PMID:17982421 PMID:18294254 PMID:19006237 PMID:19273793 PMID:19718767 PMID:19823680 PMID:19898638 PMID:19933183 PMID:21217109 PMID:23039133 PMID:23591405 PMID:23989059 PMID:24265693 PMID:24474277 PMID:25079116 PMID:25097241 PMID:25326637 PMID:25703721 PMID:25741868 PMID:25999674 PMID:26229699 PMID:26910043 PMID:27013732 PMID:28041643 PMID:28300834 PMID:28418496 PMID:28492532 PMID:30311386 PMID:30324420 PMID:30718709 NCBI chr 8:64,797,518...64,801,587
Ensembl chr 8:64,797,518...64,800,467
JBrowse link
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:16714263 PMID:17301963 PMID:19956407 PMID:20300561 PMID:21677792 PMID:22180149 PMID:22939401 PMID:24265693 PMID:25097241 PMID:25326637 PMID:25741868 PMID:26147992 PMID:26263531 PMID:26355662 PMID:26825853 PMID:26872967 PMID:28492532 PMID:29659094 PMID:30718709 NCBI chr 3:121,235,230...121,340,932
Ensembl chr 3:121,235,119...121,342,444
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:9624053 PMID:10090909 PMID:10729113 PMID:10738000 PMID:10775529 PMID:10909849 PMID:11311042 PMID:11402400 PMID:12112664 PMID:12427073 PMID:12525556 PMID:14970843 PMID:15015129 PMID:15025721 PMID:15043528 PMID:15241801 PMID:15325563 PMID:15326663 PMID:15671307 PMID:15823922 PMID:16098008 PMID:16963483 PMID:17085681 PMID:17296898 PMID:17405132 PMID:18273898 PMID:18281613 PMID:18452394 PMID:18463160 PMID:18641288 PMID:18665192 PMID:18665195 PMID:19023448 PMID:19129697 PMID:19683999 PMID:19737284 PMID:19788668 PMID:19881469 PMID:20052763 PMID:20145675 PMID:20301515 PMID:20497194 PMID:20507924 PMID:20513143 PMID:20591486 PMID:20596040 PMID:20613545 PMID:20801516 PMID:21151602 PMID:21174530 PMID:21234346 PMID:21569298 PMID:21593743 PMID:21686329 PMID:21738395 PMID:21909055 PMID:22004887 PMID:22135276 PMID:22334370 PMID:22495311 PMID:22563300 PMID:22581970 PMID:22681893 PMID:23352160 PMID:23591405 PMID:23737954 PMID:23755871 PMID:23767834 PMID:23924366 PMID:23940504 PMID:23991284 PMID:24033266 PMID:24088041 PMID:24154662 PMID:24160897 PMID:24265693 PMID:24498627 PMID:24516651 PMID:24603341 PMID:24607488 PMID:24625443 PMID:24853665 PMID:24875298 PMID:24901346 PMID:24938718 PMID:24944099 PMID:25078356 PMID:25097241 PMID:25133613 PMID:25211151 PMID:25252889 PMID:25261458 PMID:25262649 PMID:25324289 PMID:25326637 PMID:25333064 PMID:25342620 PMID:25356976 PMID:25375654 PMID:25404053 PMID:25412400 PMID:25425308 PMID:25472526 PMID:25521520 PMID:25525159 PMID:25558175 PMID:25575603 PMID:25649381 PMID:25741868 PMID:25823529 PMID:25910913 PMID:25999674 PMID:26164827 PMID:26261414 PMID:26306921 PMID:26310143 PMID:26338283 PMID:26352687 PMID:26355662 PMID:26633545 PMID:26654877 PMID:26667666 PMID:26764160 PMID:26806561 PMID:26872967 PMID:26927203 PMID:26969326 PMID:27032803 PMID:27157150 PMID:27160483 PMID:27208204 PMID:27318125 PMID:27460420 PMID:27596865 PMID:27624628 PMID:27957503 PMID:28041643 PMID:28157192 PMID:28492532 PMID:28559085 PMID:28653555 PMID:28761320 PMID:28838317 PMID:28894305 PMID:28944237 PMID:28981474 PMID:29142287 PMID:29293505 PMID:29343940 PMID:29490346 PMID:29588463 PMID:29625443 PMID:29641573 PMID:29899460 PMID:29912909 PMID:29953849 PMID:29986705 PMID:30190494 PMID:30280194 PMID:30311386 PMID:30459346 PMID:30543658 PMID:30718709 PMID:30872814 PMID:30948794 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
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 term: RETINITIS PIGMENTOSA 4, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:613731
OMIM
ClinVar
PMID:1301135 PMID:1302614 PMID:1303237 PMID:1356370 PMID:1418997 PMID:1484692 PMID:1539595 PMID:1580841 PMID:1765377 PMID:1783387 PMID:1808803 PMID:1833777 PMID:1840561 PMID:1862076 PMID:1882937 PMID:1897520 PMID:1924344 PMID:1929926 PMID:1985460 PMID:1987955 PMID:1987956 PMID:2137202 PMID:2215617 PMID:2239971 PMID:2333895 PMID:2613244 PMID:7523628 PMID:7987331 PMID:7987385 PMID:8045708 PMID:8088850 PMID:8240107 PMID:8253795 PMID:8317502 PMID:8328469 PMID:8353500 PMID:8401533 PMID:8406457 PMID:8554077 PMID:8841304 PMID:8905849 PMID:8943080 PMID:9197578 PMID:9483582 PMID:9724753 PMID:9810568 PMID:10967073 PMID:10980774 PMID:11094174 PMID:11139241 PMID:11879142 PMID:11910130 PMID:12091393 PMID:12660238 PMID:14769795 PMID:15509574 PMID:16737970 PMID:17488458 PMID:18175313 PMID:19085385 PMID:19913029 PMID:19960070 PMID:20555336 PMID:21094163 PMID:21174529 PMID:21352497 PMID:22252712 PMID:22323724 PMID:23221340 PMID:23591405 PMID:23625926 PMID:24265693 PMID:24520188 PMID:24853414 PMID:24935155 PMID:24938718 PMID:25096327 PMID:25101269 PMID:25221422 PMID:25408095 PMID:25741868 PMID:25741869 PMID:26887858 PMID:27624628 PMID:28041643 PMID:28076437 PMID:28492532 PMID:28559085 PMID:28981474 PMID:29068140 PMID:29847639 PMID:30240733 PMID:30311386 PMID:30718709 PMID:31100078 NCBI chr 4:147,832,136...147,837,298
Ensembl chr 4:147,832,136...147,837,298
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:10234513 PMID:12525556 PMID:17267005 PMID:18310263 PMID:18854872 PMID:22334370 PMID:24033266 PMID:25097241 PMID:25741868 PMID:25823529 PMID:26872967 PMID:28041643 PMID:28224992 PMID:28492532 PMID:30311386 PMID:30718709 NCBI chr14:2,328,690...2,371,913
Ensembl chr14:2,328,750...2,371,883
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:17605048 PMID:19718270 PMID:24154662 PMID:24516651 PMID:25356976 PMID:25472526 PMID:25741868 PMID:25999674 PMID:26103963 PMID:26261540 PMID:26355662 PMID:26872967 PMID:27874104 PMID:28041643 PMID:28492532 PMID:30311386 PMID:31129250 NCBI chr14:71,532,321...71,637,400
Ensembl chr14:71,533,063...71,637,417
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:25741868 PMID:28492532 NCBI chr 4:7,532,881...7,582,032
Ensembl chr 4:7,532,889...7,582,207
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 PMID:21147909 PMID:24265693 PMID:24416769 PMID:24512775 PMID:25741868 PMID:25999674 PMID:26188004 PMID:26321862 PMID:27551530 PMID:28157543 PMID:28492532 PMID:30311386 NCBI chr18:56,544,652...56,617,480
Ensembl chr18:56,544,652...56,617,480
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
ClinVar Annotator: match by OMIM:613769
OMIM
ClinVar
PMID:10581022 PMID:25741868 PMID:27623334 PMID:28492532 PMID:30311386 PMID:30337596 NCBI chr16:14,286,323...14,300,972
Ensembl chr16:14,286,323...14,300,951
JBrowse link
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:21987686 PMID:23661369 PMID:24043777 PMID:24938718 PMID:25741868 PMID:25943428 PMID:25999674 PMID:28041643 PMID:28492532 NCBI chr19:10,142,440...10,206,618
Ensembl chr19:10,142,496...10,206,681
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 NCBI chr 3:122,808,564...122,813,638
Ensembl chr 3:122,808,564...122,813,583
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 PMID:21447990 PMID:21922265 PMID:21987685 PMID:25268133 PMID:25741868 NCBI chr 9:94,926,901...94,972,162
Ensembl chr 9:94,928,489...94,972,027
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 PMID:28492532 NCBI chr 9:15,621,083...15,629,017
Ensembl chr 9:15,621,083...15,629,017
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:18310263 PMID:23462753 PMID:24033266 PMID:24265693 PMID:25268133 PMID:25326637 PMID:25356976 PMID:25741868 PMID:28492532 PMID:28981474 PMID:30311386 PMID:30718709 NCBI chr14:38,155,771...38,171,107
Ensembl chr14:38,155,759...38,171,010
JBrowse link
G Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 49 ClinVar PMID:23661369 PMID:24938718 PMID:25741868 NCBI chr19:10,142,440...10,206,618
Ensembl chr19:10,142,496...10,206,681
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, concentric
ClinVar Annotator: match by OMIM:613194
OMIM
ClinVar
PMID:9700209 PMID:19853238 PMID:30718709 NCBI chr 1:226,033,146...226,049,893
Ensembl chr 1:226,030,875...226,049,929
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:20451172 PMID:25097241 PMID:25741868 PMID:25776555 PMID:26195043 PMID:28492532 PMID:30718709 NCBI chr 6:122,920,308...122,974,525
Ensembl chr 6:122,920,317...122,974,522
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 PMID:25741868 PMID:28492532 PMID:28763557 NCBI chr 6:23,337,507...23,346,232
Ensembl chr 6:23,337,571...23,346,173
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 chr11:42,858,476...42,884,324
Ensembl chr11:42,858,478...42,884,603
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:28492532 PMID:30718709 NCBI chr11:46,615,091...46,693,565
Ensembl chr11:46,615,200...46,693,565
JBrowse link
retinitis pigmentosa 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6g phosphodiesterase 6G ISO ClinVar Annotator: match by null OMIM
ClinVar
PMID:20655036 NCBI chr10:109,620,499...109,625,214
Ensembl chr10:109,620,980...109,622,745
JBrowse link
retinitis pigmentosa 58 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp513 zinc finger protein 513 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 58 OMIM
ClinVar
PMID:20227676 PMID:20797688 PMID:25741868 PMID:28492532 NCBI chr 6:26,537,707...26,541,051
Ensembl chr 6:26,537,707...26,541,048
JBrowse link
retinitis pigmentosa 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhdds dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ibb
ClinVar Annotator: match by term: Retinitis pigmentosa 59
OMIM
ClinVar
PMID:21295282 PMID:21295283 PMID:22110072 PMID:24033266 PMID:24078709 PMID:24664694 PMID:25066056 PMID:25255364 PMID:25741868 PMID:26261414 PMID:27343064 PMID:28130426 PMID:28492532 PMID:29276052 NCBI chr 5:152,200,681...152,227,669
Ensembl chr 5:152,199,584...152,227,677
JBrowse link
retinitis pigmentosa 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Retinitis Pigmentosa 6 ClinVar PMID:25741868 NCBI chr  X:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
JBrowse link
retinitis pigmentosa 60 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prpf6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 60
ClinVar Annotator: match by OMIM:613983
OMIM
ClinVar
PMID:21549338 PMID:25741868 NCBI chr 3:177,098,137...177,162,937
Ensembl chr 3:177,098,073...177,162,916
JBrowse link
retinitis pigmentosa 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn1 clarin 1 ISO ClinVar Annotator: match by OMIM:614180 OMIM
ClinVar
PMID:21310491 NCBI chr 2:149,049,925...149,088,787
Ensembl chr 2:149,049,925...149,088,787
JBrowse link
retinitis pigmentosa 62 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mak male germ cell-associated kinase ISO ClinVar Annotator: match by term: Retinitis pigmentosa 62
ClinVar Annotator: match by OMIM:614181
OMIM
ClinVar
PMID:21825139 PMID:21835304 PMID:25741868 PMID:28492532 NCBI chr17:21,531,651...21,567,742
Ensembl chr17:21,521,505...21,568,440
JBrowse link
retinitis pigmentosa 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbp3 retinol binding protein 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 66
ClinVar Annotator: match by OMIM:615233
OMIM
ClinVar
PMID:19074801 PMID:21067480 PMID:23486466 PMID:24963161 PMID:25741868 PMID:27829784 PMID:28492532 NCBI chr16:10,277,775...10,286,243
Ensembl chr16:10,277,775...10,286,243
JBrowse link
retinitis pigmentosa 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek2 NIMA-related kinase 2 ISO OMIM NCBI chr13:110,511,546...110,524,750
Ensembl chr13:110,511,668...110,522,769
JBrowse link
retinitis pigmentosa 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc7a14 solute carrier family 7, member 14 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 68
ClinVar Annotator: match by OMIM:615725
OMIM
ClinVar
PMID:24670872 PMID:25741868 PMID:28492532 NCBI chr 2:115,678,344...115,788,688
Ensembl chr 2:115,678,344...115,788,687
JBrowse link
retinitis pigmentosa 69 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kiz kizuna centrosomal protein ISO ClinVar Annotator: match by term: Retinitis pigmentosa 69 ClinVar
OMIM
PMID:24680887 PMID:25741868 PMID:28492532 PMID:28837078 PMID:29057815 NCBI chr 3:141,067,981...141,173,738
Ensembl chr 3:141,068,023...141,173,858
JBrowse link
retinitis pigmentosa 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic
ClinVar Annotator: match by term: LEBER CONGENITAL AMAUROSIS 18
ClinVar Annotator: match by OMIM:608133
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1684223 PMID:7880786 PMID:8019570 PMID:8020945 PMID:8111389 PMID:8202715 PMID:9443872 PMID:11297544 PMID:12925772 PMID:23847139 PMID:25447119 PMID:25741868 PMID:28076437 PMID:28492532 PMID:28559085 PMID:29555955 NCBI chr 9:16,085,933...16,386,176 JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic OMIM
ClinVar
PMID:7904211 PMID:8202715 PMID:16799052 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 1:225,126,732...225,128,740
Ensembl chr 1:225,126,734...225,128,740
JBrowse link
retinitis pigmentosa 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prpf4 pre-mRNA processing factor 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 70 ClinVar
OMIM
PMID:24419317 NCBI chr 5:78,267,248...78,281,172
Ensembl chr 5:78,267,248...78,281,172
JBrowse link
retinitis pigmentosa 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by OMIM:616394 ClinVar
OMIM
PMID:25168386 NCBI chr 6:26,390,686...26,485,459 JBrowse link
G Krtcap3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 71 ClinVar PMID:25168386 NCBI chr 6:26,485,126...26,486,695
Ensembl chr 6:26,485,126...26,486,695
JBrowse link
retinitis pigmentosa 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 72 OMIM
ClinVar
PMID:25882705 PMID:28492532 NCBI chr 3:80,549,102...80,555,186 JBrowse link
retinitis pigmentosa 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Retinitis pigmentosa 73 OMIM
ClinVar
PMID:16960811 PMID:17033958 PMID:19479962 PMID:20583299 PMID:25741868 PMID:25859010 PMID:28041643 PMID:28492532 PMID:30311386 PMID:31228227 NCBI chr16:70,876,557...70,909,443 JBrowse link
retinitis pigmentosa 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 74 OMIM
ClinVar
PMID:11567139 PMID:19402160 PMID:20498079 PMID:21052717 PMID:21344540 PMID:21642631 PMID:22401627 PMID:22410627 PMID:23829372 PMID:25133751 PMID:25412400 PMID:25541840 PMID:25741868 PMID:27659767 PMID:28492532 PMID:28559085 NCBI chr19:11,385,921...11,421,523
Ensembl chr19:11,386,024...11,421,498
JBrowse link
retinitis pigmentosa 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agbl5 ATP/GTP binding protein-like 5 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 75 ClinVar
OMIM
PMID:26355662 PMID:26720455 NCBI chr 6:26,837,299...26,857,234
Ensembl chr 6:26,838,036...26,855,658
JBrowse link
Retinitis Pigmentosa 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by OMIM:617123
ClinVar Annotator: match by term: Retinitis pigmentosa 76
ClinVar
OMIM
PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:19067344 PMID:19299310 PMID:21361872 PMID:22323514 PMID:22554691 PMID:23326386 PMID:24282183 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:27391550 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28832562 PMID:30311386 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 76
ClinVar Annotator: match by term: Retinitis pigmentosa 76
ClinVar PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 PMID:16427280 PMID:17030669 PMID:17559086 PMID:17878207 PMID:17881266 PMID:17906881 PMID:18195152 PMID:18330676 PMID:19067344 PMID:19299310 PMID:21361872 PMID:22323514 PMID:22554691 PMID:23326386 PMID:24282183 PMID:25390965 PMID:25525159 PMID:25741868 PMID:26013959 PMID:26467025 PMID:26908613 PMID:26938784 PMID:27391550 PMID:28424332 PMID:28492532 PMID:28688748 PMID:28832562 PMID:30311386 NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
JBrowse link
retinitis pigmentosa 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 77 ClinVar
OMIM
PMID:27889058 NCBI chr 7:12,240,059...12,246,814
Ensembl chr 7:12,240,060...12,246,729
JBrowse link
Retinitis Pigmentosa 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 78
ClinVar Annotator: match by term: Retinitis pigmentosa 78
ClinVar
OMIM
PMID:25741868 PMID:28132693 NCBI chr12:1,889,252...1,998,128
Ensembl chr12:1,889,331...1,998,127
JBrowse link
Retinitis Pigmentosa 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 79 OMIM
ClinVar
PMID:25190649 PMID:25316723 PMID:25741868 PMID:26427411 PMID:28492532 PMID:28765615 PMID:30778173 NCBI chr20:31,911,460...31,979,780
Ensembl chr20:31,912,262...31,956,649
JBrowse link
Retinitis Pigmentosa 80 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 80
ClinVar Annotator: match by term: Retinitis pigmentosa 80
ClinVar Annotator: match by term: Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene
ClinVar
OMIM
PMID:22503633 PMID:23418020 PMID:24009529 PMID:24698627 PMID:25741868 PMID:26216056 PMID:26359340 PMID:26968735 PMID:28288023 PMID:28492532 PMID:28559085 PMID:28724397 PMID:29068549 PMID:29688594 PMID:32860008 NCBI chr10:14,373,668...14,461,509
Ensembl chr10:14,373,679...14,461,160
JBrowse link
retinitis pigmentosa 81 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 81 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28973684 NCBI chr 6:109,939,323...110,016,646
Ensembl chr 6:109,939,345...110,016,644
JBrowse link
retinitis pigmentosa 83 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl3 ADP ribosylation factor like GTPase 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 83 OMIM
ClinVar
PMID:25741868 PMID:26964041 PMID:30932721 NCBI chr 1:266,287,015...266,333,099
Ensembl chr 1:266,287,017...266,333,105
JBrowse link
retinitis pigmentosa 84 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhx38 DEAH-box helicase 38 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 84 OMIM
ClinVar
PMID:24737827 PMID:25741868 PMID:30208423 NCBI chr19:42,110,291...42,127,540
Ensembl chr19:42,110,327...42,127,542
JBrowse link
retinitis pigmentosa 85 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor ISO ClinVar Annotator: match by term: Retinitis pigmentosa 85 OMIM
ClinVar
PMID:29726989 NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
JBrowse link
retinitis pigmentosa 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RGD1306271 similar to KIAA1549 protein ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 86 OMIM
ClinVar
PMID:30120214 NCBI chr 4:65,834,933...65,962,722
Ensembl chr 4:65,834,035...65,962,539
JBrowse link
retinitis pigmentosa 87 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 87 WITH CHOROIDAL INVOLVEMENT OMIM
ClinVar
PMID:21654732 PMID:25741868 PMID:27307694 PMID:28041994 PMID:28492532 PMID:29659842 PMID:29947567 PMID:30628748 PMID:31379919 NCBI chr 2:266,141,581...266,169,197
Ensembl chr 2:266,141,581...266,169,197
JBrowse link
retinitis pigmentosa 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 88 ClinVar
OMIM
PMID:23281133 PMID:30025130 PMID:31236346 PMID:31833436 NCBI chr15:47,344,380...47,384,461
Ensembl chr15:47,373,120...47,383,508
JBrowse link
retinitis pigmentosa 89 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif3b kinesin family member 3B ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 89 OMIM
ClinVar
PMID:32386558 NCBI chr 3:148,772,937...148,813,342
Ensembl chr 3:148,773,259...148,813,293
JBrowse link
retinitis pigmentosa 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rp9 RP9, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Retinitis pigmentosa 9
ClinVar Annotator: match by OMIM:180104
OMIM
ClinVar
PMID:1479605 PMID:8025041 PMID:8513323 PMID:12032732 PMID:15474994 PMID:15541726 PMID:16671097 PMID:16799052 PMID:17110909 PMID:23647439 PMID:28492532 NCBI chr 8:23,450,111...23,482,939
Ensembl chr 8:23,450,111...23,482,939
JBrowse link
retinitis pigmentosa 90 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 90 OMIM
ClinVar
PMID:28058510 PMID:28412069 PMID:30058936 PMID:31012789 NCBI chr 8:59,164,601...59,183,899
Ensembl chr 8:59,164,572...59,183,908
JBrowse link
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trnt1 tRNA nucleotidyl transferase 1 ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
ClinVar Annotator: match by term: Retinitis pigmentosa and erythrocytic microcytosis
ClinVar
OMIM
PMID:25193871 PMID:25741868 PMID:26494905 PMID:28492532 PMID:29358286 NCBI chr 4:138,855,497...138,869,217
Ensembl chr 4:138,855,641...138,869,217
JBrowse link
retinitis pigmentosa with or without situs inversus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl2bp ADP-ribosylation factor like GTPase 2 binding protein ISO ClinVar Annotator: match by term: Retinitis pigmentosa 82 with or without situs inversus
ClinVar Annotator: match by OMIM:615434
OMIM
ClinVar
PMID:23849777 PMID:27790702 PMID:28492532 NCBI chr19:10,753,670...10,763,247
Ensembl chr19:10,753,681...10,763,110
JBrowse link
Retinitis Pigmentosa, Late-Onset Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prph2 peripherin 2 ISO DNA:polymorphism:cds:p.C214S(human) RGD PMID:8244346 RGD:8553240 NCBI chr 9:16,085,933...16,386,176 JBrowse link
retinitis pigmentosa-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:12075507 PMID:16963483 PMID:18429043 PMID:19683999 PMID:21174530 PMID:21228398 PMID:21569298 PMID:22135276 PMID:22995991 PMID:24033266 PMID:25474345 PMID:25741868 PMID:26969326 PMID:27018795 PMID:28492532 PMID:30029624 PMID:30718709 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr18:29,611,545...29,629,087
Ensembl chr18:29,611,547...29,629,087
JBrowse link
G LOC100361018 rCG22048-like ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:29,947,427...29,954,869
Ensembl chr20:29,951,637...29,952,023
JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 NCBI chr 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr20:14,952,213...15,334,745
Ensembl chr20:14,952,213...15,334,745
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:18429043 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 1:102,207,096...102,256,779
Ensembl chr 1:102,207,096...102,255,459
JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr10:103,866,566...103,873,416
Ensembl chr10:103,869,377...103,873,246
JBrowse link
G Ush2a usherin