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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:cone-rod dystrophy
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Accession:DOID:0050572 term browser browse the term
Definition:A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells. (DO)
Synonyms:exact_synonym: CORD;   CRD;   cone rod degenerations;   cone rod retinal dystrophy;   cone-rod degeneration;   cone-rod dystrophies;   cone-rod retinal dystrophies
 narrow_synonym: cone-rod dystrophy, dominant;   cone-rod dystrophy, recessive
 primary_id: MESH:D000071700
 xref: GARD:10790;   OMIM:PS120970;   ORDO:1872
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
cone-rod dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar Annotator: match by term: Cone-rod degeneration
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive
ClinVar Annotator: match by term: Cone rod dystrophy
ClinVar PMID:8002831, PMID:9054934, PMID:9295268, PMID:9466990, PMID:9666097, PMID:9781034, PMID:9973280, PMID:10090887, PMID:10413692, PMID:10612508, PMID:10634594, PMID:10711710, PMID:10880298, PMID:10958761, PMID:10958763, PMID:11017087, PMID:11328725, PMID:11346402, PMID:11527935, PMID:11702214, PMID:11726554, PMID:11857735, PMID:11919200, PMID:11973624, PMID:12037008, PMID:12192456, PMID:12515255, PMID:12796258, PMID:14517951, PMID:14709597, PMID:14971589, PMID:15108289, PMID:15192030, PMID:15494742, PMID:15516930, PMID:16103129, PMID:16123440, PMID:16303926, PMID:16400609, PMID:16546111, 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:20696155, PMID:20981092, PMID:21786275, PMID:21911583, PMID:22025579, PMID:22229821, PMID:22264887, PMID:22312191, PMID:22427542, PMID:22449572, PMID:22661472, PMID:22661473, PMID:22735453, PMID:22968130, PMID:22995991, PMID:23096905, PMID:23134348, PMID:23143460, PMID:23144455, PMID:23419329, PMID:23695285, PMID:23755871, PMID:23769331, PMID:23940504, PMID:23949494, PMID:23953153, PMID:23982839, PMID:24011517, PMID:24033266, PMID:24082139, PMID:24097981, PMID:24154662, PMID:24265693, PMID:24453473, PMID:24713488, PMID:25066811, PMID:25082885, PMID:25087612, PMID:25097241, PMID:25283059, PMID:25333069, PMID:25346251, PMID:25356976, PMID:25412400, PMID:25444351, PMID:25472526, PMID:25474345, PMID:25525159, PMID:25640233, PMID:25712131, PMID:25741868, PMID:25910913, PMID:25921964, PMID:26103963, PMID:26247787, PMID:26527198, PMID:26593885, PMID:26872967, PMID:27014590, PMID:27491360, PMID:27535533, PMID:27628848, PMID:27739528, PMID:27820952, PMID:28041643, PMID:28118664, PMID:28181551, PMID:28224992, PMID:28327576, PMID:28341476, PMID:28446513, PMID:28492532, PMID:28559085, PMID:29145636, PMID:29162642, PMID:29555955, PMID:29847635, PMID:29854428, PMID:29925512, PMID:29971439, PMID:29975949, PMID:30060493, PMID:30093795, PMID:30311386, PMID:30718709, PMID:31015497, PMID:31576780, PMID:92952680 NCBI chr 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Abhd12 abhydrolase domain containing 12, lysophospholipase ISO ClinVar Annotator: match by term: Cone rod dystrophy ClinVar PMID:24697911 NCBI chr 3:146,630,298...146,690,375
Ensembl chr 3:146,630,299...146,690,375
JBrowse link
G Acbd5 acyl-CoA binding domain containing 5 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:28492532 NCBI chr17:89,882,465...89,923,982
Ensembl chr17:89,883,615...89,923,423
JBrowse link
G Adam9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive
ClinVar Annotator: match by term: Cone-rod degeneration
ClinVar PMID:19409519, PMID:25741868, PMID:28492532 NCBI chr16:71,810,377...71,887,926
Ensembl chr16:71,810,377...71,887,926
JBrowse link
G Bbs5 Bardet-Biedl syndrome 5 ISO ClinVar Annotator: match by term: Cone rod dystrophy ClinVar PMID:15137946, PMID:20498079, PMID:25741868, PMID:28041643, PMID:28492532 NCBI chr 3:55,886,695...55,907,717
Ensembl chr 3:55,886,695...55,907,716
JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 NCBI chr 1:226,033,146...226,049,893
Ensembl chr 1:226,030,875...226,049,929
JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar Annotator: match by term: Cone-rod degeneration
ClinVar PMID:19074807, PMID:23714322, PMID:25741868, PMID:28041643, PMID:28492532, PMID:29525873, PMID:30718709 NCBI chr 1:219,383,452...219,388,009
Ensembl chr 1:219,383,452...219,388,009
JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:28492532, PMID:30718709 NCBI chr  X:15,712,709...15,741,135
Ensembl chr  X:15,712,713...15,741,103
JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Cone rod dystrophy ClinVar PMID:28041643 NCBI chr 4:151,298,548...151,409,263
Ensembl chr 4:151,298,548...151,409,263
JBrowse link
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar PMID:23591405, PMID:24033266, PMID:25741868, PMID:26766544, PMID:27353947, PMID:28041643, PMID:28224992, PMID:28492532, PMID:28765526, PMID:28885867, PMID:30311386, PMID:30718709 NCBI chr16:14,328,161...14,348,049
Ensembl chr16:14,328,160...14,348,046
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chr  X:35,536,396...35,773,204
Ensembl chr  X:35,599,258...35,771,711
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Rod-cone dystrophy
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar PMID:17345604, PMID:21866095, PMID:25741868, PMID:26092869, PMID:28492532, PMID:28497568, PMID:30193310, 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 Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr 1:233,185,815...233,214,876
Ensembl chr 1:233,186,989...233,214,758
JBrowse link
G Cerkl ceramide kinase-like ISO ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar PMID:14681825, PMID:21151602, PMID:22164218, PMID:24043777, PMID:24625443, PMID:25097241, PMID:25741868, PMID:25999674, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30718709, PMID:221642182 NCBI chr 3:66,268,835...66,395,615
Ensembl chr 3:66,268,947...66,394,764
JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar 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 Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr 1:197,986,384...197,999,726
Ensembl chr 1:197,986,385...197,997,664
JBrowse link
G Cnga1 cyclic nucleotide gated channel subunit alpha 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:7479749, PMID:24033266, PMID:24265693, PMID:25326637, PMID: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 Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Cone rod dystrophy
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar Annotator: match by term: Cone-rod degeneration
ClinVar PMID:11536077, PMID:18521937, PMID:24033266, PMID:25741868, PMID:26493561, PMID:28041643, PMID:28492532, PMID:30289319 NCBI chr 9:43,807,412...43,858,225
Ensembl chr 9:43,807,677...43,854,396
JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:1347967, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15657609, PMID:15712225, PMID:16379026, PMID:17265047, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25741868, PMID:25770143, PMID:28041643, 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 Crb1 crumbs cell polarity complex component 1 ISO DNA:missense mutation:cds:p.C27F(c.80G¿¿¿>¿¿¿T)(human)
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar PMID:25741868, PMID:30311386, PMID:23767994 RGD:13451130 NCBI chr13:56,270,519...56,462,893
Ensembl chr13:56,270,781...56,462,834
JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
ClinVar PMID:30718709 NCBI chr 1:77,744,593...77,758,913
Ensembl chr 1:77,745,288...77,750,960
JBrowse link
G Fam161a FAM161 centrosomal protein A ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:20705278, PMID:25097241, PMID:25525159, PMID:25741868, PMID:25999674, PMID:26113502, PMID:26574802, PMID:28492532, PMID:30718709 NCBI chr14:107,785,029...107,803,765
Ensembl chr14:107,785,029...107,798,115
JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:25741868 NCBI chr 2:210,880,754...210,890,765
Ensembl chr 2:210,880,777...210,889,881
JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar PMID:15505030, PMID:25741868, PMID:28492532 NCBI chr 9:15,609,804...15,620,030
Ensembl chr 9:15,609,804...15,620,029
JBrowse link
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: Cone rod dystrophy
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
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 Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Cone rod dystrophy
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar Annotator: match by term: Cone-rod degeneration
ClinVar PMID:8554074, PMID:9618177, PMID:10676808, PMID:11115851, PMID:11565546, PMID:12552567, PMID:15175914, PMID:18055820, PMID:21602930, PMID:24875811, PMID:26298565, PMID:28041643, PMID:28492532, PMID:29178642, PMID:30311386, PMID:30718709 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr16:70,876,557...70,909,443 JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868, PMID:30311386 NCBI chr 4:56,478,383...56,493,987
Ensembl chr 4:56,478,384...56,493,923
JBrowse link
G Itga4 integrin subunit alpha 4 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:25741868 NCBI chr 3:66,178,745...66,265,547
Ensembl chr 3:66,193,059...66,263,960
JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:245,396,880...245,475,011
Ensembl chr 1:245,396,989...245,416,531
JBrowse link
G Lrat lecithin retinol acyltransferase ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 NCBI chr 2:181,896,304...181,905,366
Ensembl chr 2:181,896,305...181,905,300
JBrowse link
G Mall mal, T-cell differentiation protein-like ISO ClinVar Annotator: match by term: Cone rod dystrophy ClinVar PMID:28041643 NCBI chr 3:120,272,583...120,307,090
Ensembl chr 3:120,272,583...120,306,551
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: Cone-rod retinal dystrophy
ClinVar PMID:30311386 NCBI chr 5:24,145,829...24,165,467
NCBI chr 5:23,358,464...23,377,697
Ensembl chr 5:23,358,841...23,377,651
Ensembl chr 5:23,358,841...23,377,651
JBrowse link
G Mir103a2 microRNA 103a-2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar NCBI chr 3:123,833,671...123,833,756
Ensembl chr 3:123,833,671...123,833,756
JBrowse link
G Mtln mitoregulin ISO ClinVar Annotator: match by term: Cone rod dystrophy ClinVar PMID:28041643 NCBI chr 3:120,372,665...120,373,523 JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:16963483, PMID:22690115, PMID:23237960, PMID:24033266, PMID:25525159, PMID:27460420, PMID:30311386 NCBI chr 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:30311386 NCBI chr 7:130,326,597...130,343,655
Ensembl chr 7:130,326,600...130,342,493
JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar PMID:25741868 NCBI chr 5:166,409,460...166,430,291
Ensembl chr 5:166,409,461...166,430,254
JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Cone rod dystrophy ClinVar PMID:28041643 NCBI chr 3:120,316,048...120,370,089
Ensembl chr 3:120,316,047...120,373,500
JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:10655056, PMID:15453866, PMID:15459973, PMID:18294254, PMID:19273793, PMID:19718767, PMID:21217109, PMID:23039133, PMID:23591405, PMID:23989059, PMID:24474277, PMID:25079116, PMID:25097241, PMID:25703721, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30718709 NCBI chr 8:64,797,518...64,801,587
Ensembl chr 8:64,797,518...64,800,467
JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar NCBI chr 3:123,807,911...123,841,797
Ensembl chr 3:123,807,952...123,841,797
JBrowse link
G Pcare photoreceptor cilium actin regulator ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:21412943, PMID:27353947, PMID:28041643, PMID:28492532, PMID:30311386 NCBI chr 6:23,337,507...23,346,232
Ensembl chr 6:23,337,571...23,346,173
JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Rod-cone dystrophy
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar PMID:22334370, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30718709 NCBI chr14:2,328,690...2,371,913
Ensembl chr14:2,328,750...2,371,883
JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar NCBI chr 1:256,822,099...256,885,879
Ensembl chr 1:256,822,334...256,877,810
JBrowse link
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:9090383, PMID:11781871, PMID:12325024, PMID:23572185, PMID:25741868, PMID:26408048, PMID:28492532, PMID:30311386 NCBI chr 1:15,311,768...15,374,702
Ensembl chr 1:15,311,770...15,374,850
JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar PMID:25741868, PMID:28492532 NCBI chr10:58,618,679...58,722,679
Ensembl chr10:58,618,645...58,693,754
JBrowse link
G Poc1b POC1 centriolar protein B ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr 7:41,304,119...41,404,360
Ensembl chr 7:41,304,440...41,404,370
JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar PMID:10205271, PMID:17605048, PMID:19718270, PMID:23757202, PMID:24154662, PMID:24474277, PMID:25741868, PMID:25999674, PMID:26103963, PMID:26261540, PMID:26702251, PMID:27874104, PMID:28041643, PMID:28492532 NCBI chr14:71,532,321...71,637,400
Ensembl chr14:71,533,063...71,637,417
JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868, PMID:30311386 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: Cone-Rod Dystrophy, Dominant
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone Rod Dystrophy
ClinVar PMID:7493155, PMID:8015786, PMID:8302543, PMID:8485576, PMID:8644804, PMID:8675410, PMID:8747448, PMID:8994365, PMID:9010868, PMID:9331261, PMID:9443872, PMID:11139241, PMID:14510799, PMID:14557183, PMID:15370544, PMID:15779916, PMID:16113362, PMID:16799052, PMID:18310263, PMID:19038374, PMID:19243827, PMID:20213611, PMID:22183351, PMID:22466463, PMID:24463884, PMID:24629188, PMID:25001182, PMID:25082885, PMID:25097241, PMID:25474345, PMID:25675413, PMID:25741868, PMID:26161267, PMID:26842753, PMID:28076437, PMID:28492532, PMID:28559085, PMID:30718709 NCBI chr 9:16,085,933...16,386,176 JBrowse link
G Rab28 RAB28, member RAS oncogene family ISO ClinVar Annotator: match by term: Cone-rod degeneration ClinVar PMID:23746546 NCBI chr14:73,888,968...73,963,209
Ensembl chr14:73,889,213...73,963,202
JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Cone-rod degeneration ClinVar PMID:15258582, PMID:16269441, PMID:20006610, PMID:22065924, PMID:24474277, PMID:25741868, PMID:27032803, PMID:28492532, PMID:32014858 NCBI chr 6:102,392,828...102,405,750
Ensembl chr 6:102,392,828...102,405,750
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868, PMID:28492532, PMID:30193310 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
JBrowse link
G Rgr retinal G protein coupled receptor ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy 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
G Rho rhodopsin ISO ClinVar Annotator: match by term: Rod-cone dystrophy
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar PMID:1862076, PMID:7981701, PMID:8088850, PMID:8107847, PMID:9380676, PMID:11139241, PMID:12871954, PMID:16767206, PMID:17488458, PMID:19913029, PMID:21094163, PMID:21217109, PMID:21219898, PMID:25999674, PMID:28492532, PMID:29847639, PMID:30240733, PMID:30311386, PMID:30718709 NCBI chr 4:147,832,136...147,837,298
Ensembl chr 4:147,832,136...147,837,298
JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar PMID:28492532, PMID:30311386 NCBI chr 9:28,440,408...28,973,246
Ensembl chr 9:28,442,229...28,973,246
JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Rod-cone dystrophy
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar PMID:9326941, PMID:11462243, PMID:11786058, PMID:19854499, PMID:20683928, PMID:21211845, PMID:25257057, PMID:28041643, PMID:28492532, PMID:30311386 NCBI chr 2:266,141,581...266,169,197
Ensembl chr 2:266,141,581...266,169,197
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar PMID:11857109, PMID:11875055, PMID:30311386, PMID:30718709 NCBI chr  X:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar PMID:25741868 NCBI chr15:28,521,287...28,575,046
Ensembl chr15:28,522,737...28,574,737
JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chr  X:35,749,957...35,777,243
Ensembl chr  X:35,749,957...35,777,243
JBrowse link
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:25741868 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: Rod-cone dystrophy ClinVar PMID:28794130 NCBI chr 8:60,127,039...60,593,568
Ensembl chr 8:60,126,624...60,570,058
JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar NCBI chr 2:187,799,568...187,823,014
Ensembl chr 2:187,799,568...187,822,997
JBrowse link
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:23847139, PMID:25741868, PMID:27735924, PMID:28492532, PMID:28559085, PMID:30311386 NCBI chr 3:119,640,324...119,669,651
Ensembl chr 3:119,640,298...119,669,639
JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:30311386 NCBI chr 5:56,554,956...56,566,503
Ensembl chr 5:56,554,969...56,567,320
JBrowse link
G Trpm6 transient receptor potential cation channel, subfamily M, member 6 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:28041643, PMID:32581362 NCBI chr 1:234,478,908...234,631,264
Ensembl chr 1:234,479,289...234,596,971
JBrowse link
G Ttc8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Cone-rod degeneration ClinVar PMID:16308660, PMID:21044901, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 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: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr 6:109,693,915...109,910,479
Ensembl chr 6:109,710,781...109,879,607
JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Cone-rod retinal dystrophy ClinVar PMID:30311386 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 ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant
ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar PMID:11006213, PMID:22184408, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:65,606,919...65,612,324
Ensembl chr10:65,606,898...65,612,324
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-rod retinal dystrophy
ClinVar Annotator: match by term: Rod-cone dystrophy
ClinVar PMID:9624053, PMID:10090909, PMID:10729113, PMID:10775529, PMID:10909849, PMID:11311042, PMID:11402400, PMID:12112664, PMID:12525556, PMID:14970843, PMID:15015129, PMID:15025721, PMID:15043528, PMID:15241801, PMID:15325563, PMID:15326663, PMID:16963483, PMID:17296898, PMID:17405132, PMID:18273898, PMID:18463160, PMID:18641288, PMID:18665195, PMID:19683999, PMID:19881469, PMID:20145675, PMID:20301515, PMID:20513143, PMID:21174530, PMID:21234346, PMID:21569298, PMID:22135276, PMID:22495311, PMID:22581970, PMID:23352160, PMID:24033266, PMID:24088041, PMID:24160897, PMID:24498627, PMID:24607488, PMID:24944099, PMID:25097241, PMID:25262649, PMID:25333064, PMID:25404053, PMID:25575603, PMID:25649381, PMID:25741868, PMID:25991456, PMID:26338283, PMID:26633545, PMID:26872967, PMID:26927203, PMID:27208204, PMID:27460420, PMID:27957503, PMID:28041643, PMID:28492532, PMID:28512305, PMID:29293505, PMID:29953849, PMID:30311386, PMID:30718709 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
JBrowse link
cone-rod dystrophy 10 term browser
Symbol Object Name 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 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: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 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 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 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 15
ClinVar Annotator: match by term: Retinitis pigmentosa 65
ClinVar Annotator: match by synonym: Retinitis pigmentosa 65
OMIM
ClinVar
PMID:20087419, PMID:20805371, PMID:23591405, PMID:24033266, PMID:24154662, PMID:25741868, PMID:27353947, PMID:27623334, PMID:28041643, PMID:28224992, PMID:28418496, PMID:28492532, PMID:28765526, PMID:28885867, PMID:30311386, PMID:30576320, PMID:30718709, PMID:30992995 NCBI chr16:14,328,161...14,348,049
Ensembl chr16:14,328,160...14,348,046
JBrowse link
cone-rod dystrophy 16 term browser
Symbol Object Name 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:26854863, PMID:26865426, PMID:27008867, PMID:28492532 NCBI chr 5:24,145,829...24,165,467
NCBI chr 5:23,358,464...23,377,697
Ensembl chr 5:23,358,841...23,377,651
Ensembl chr 5:23,358,841...23,377,651
JBrowse link
cone-rod dystrophy 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab28 RAB28, member RAS oncogene family ISO ClinVar Annotator: match by term: Cone-rod dystrophy 18
ClinVar Annotator: match by OMIM:615374
OMIM
ClinVar
PMID:23746546, PMID:23806086, PMID:24088041, PMID:25356532, PMID:25741868 NCBI chr14:73,888,968...73,963,209
Ensembl chr14:73,889,213...73,963,202
JBrowse link
cone-rod dystrophy 19 term browser
Symbol Object Name 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 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: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 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 3 term browser
Symbol Object Name 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: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: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 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 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 7
ClinVar Annotator: match by OMIM:603649
OMIM
ClinVar
PMID:9634506, PMID:12659814, PMID:23591405, PMID:25741868, PMID:28492532 NCBI chr 9:28,440,408...28,973,246
Ensembl chr 9:28,442,229...28,973,246
JBrowse link
cone-rod dystrophy 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 9
ClinVar Annotator: match by OMIM:612775
OMIM
ClinVar
PMID:11581183, PMID:19409519, PMID:25091951, PMID:25741868, PMID:28492532 NCBI chr16:71,810,377...71,887,926
Ensembl chr16:71,810,377...71,887,926
JBrowse link
G Tm2d2 TM2 domain containing 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 9 ClinVar NCBI chr16:71,804,368...71,809,891
Ensembl chr16:71,804,350...71,809,925
JBrowse link
Cone-Rod Dystrophy and Hearing Loss term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: CONE-ROD DYSTROPHY AND HEARING LOSS
ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 1
ClinVar
OMIM
PMID:27588451, PMID:27588452, PMID:27627988, PMID:28492532 NCBI chr 1:233,185,815...233,214,876
Ensembl chr 1:233,186,989...233,214,758
JBrowse link
Cone-Rod Dystrophy and Hearing Loss 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 2 OMIM
ClinVar
PMID:24780881, PMID:25741868, PMID:29718797, PMID:30459346, PMID:30998843 NCBI chr 3:151,508,366...151,544,631
Ensembl chr 3:151,508,361...151,544,674
JBrowse link
CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rims2 regulating synaptic membrane exocytosis 2 ISO ClinVar Annotator: match by term: CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE ClinVar
OMIM
PMID:32470375 NCBI chr 7:78,091,998...78,594,164
Ensembl chr 7:78,092,037...78,594,138
JBrowse link
Newfoundland cone-rod dystrophy term browser
Symbol Object Name 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
X-linked cone-rod dystrophy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgr retinitis pigmentosa GTPase regulator ISO DNA:deletions, insertion, snp:cds:multiple (human)
ClinVar Annotator: match by term: Cone-rod dystrophy, X-linked 1
DNA:deletions:exon:g.47192_47206del15, g.47841_47842delGG (human)
ClinVar
OMIM
PMID:11857109, PMID:11875055, PMID:15914600, PMID:11857109, PMID:20007830, PMID:11875055 RGD:8553225, RGD:8553232, RGD:8553227 NCBI chr  X:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
JBrowse link
X-linked cone-rod dystrophy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Cone-rod dystrophy X-linked 3
DNA:mutation:intron: IVS28¿¿¿1 GCGTC>TGG(human)
ClinVar Annotator: match by OMIM:300476
OMIM
ClinVar
PMID:23776498, PMID:24124559, PMID:25741868, PMID:29127258, PMID:16505158 RGD:13782380 NCBI chr  X:15,712,709...15,741,135
Ensembl chr  X:15,712,713...15,741,103
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      eye disease 2652
        fundus dystrophy 333
          cone-rod dystrophy 79
            CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE 1
            Cone-Rod Dystrophy and Hearing Loss + 2
            Newfoundland cone-rod dystrophy 1
            X-linked cone-rod dystrophy 1 1
            X-linked cone-rod dystrophy 2 0
            X-linked cone-rod dystrophy 3 1
            cone-rod dystrophy 1 0
            cone-rod dystrophy 10 1
            cone-rod dystrophy 11 0
            cone-rod dystrophy 12 1
            cone-rod dystrophy 13 1
            cone-rod dystrophy 14 6
            cone-rod dystrophy 15 1
            cone-rod dystrophy 16 1
            cone-rod dystrophy 17 0
            cone-rod dystrophy 18 1
            cone-rod dystrophy 19 1
            cone-rod dystrophy 2 3
            cone-rod dystrophy 20 1
            cone-rod dystrophy 3 1
            cone-rod dystrophy 5 2
            cone-rod dystrophy 6 2
            cone-rod dystrophy 7 1
            cone-rod dystrophy 8 0
            cone-rod dystrophy 9 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          neurodegenerative disease 3191
            eye degenerative disease 468
              retinal degeneration 466
                fundus dystrophy 333
                  cone-rod dystrophy 79
                    CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE 1
                    Cone-Rod Dystrophy and Hearing Loss + 2
                    Newfoundland cone-rod dystrophy 1
                    X-linked cone-rod dystrophy 1 1
                    X-linked cone-rod dystrophy 2 0
                    X-linked cone-rod dystrophy 3 1
                    cone-rod dystrophy 1 0
                    cone-rod dystrophy 10 1
                    cone-rod dystrophy 11 0
                    cone-rod dystrophy 12 1
                    cone-rod dystrophy 13 1
                    cone-rod dystrophy 14 6
                    cone-rod dystrophy 15 1
                    cone-rod dystrophy 16 1
                    cone-rod dystrophy 17 0
                    cone-rod dystrophy 18 1
                    cone-rod dystrophy 19 1
                    cone-rod dystrophy 2 3
                    cone-rod dystrophy 20 1
                    cone-rod dystrophy 3 1
                    cone-rod dystrophy 5 2
                    cone-rod dystrophy 6 2
                    cone-rod dystrophy 7 1
                    cone-rod dystrophy 8 0
                    cone-rod dystrophy 9 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.