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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 dystrophy
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Accession:DOID:0050795 term browser browse the term
Definition:A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. (DO)
Synonyms:exact_synonym: retinal cone dystrophy
 primary_id: MESH:D000077765
 xref: GARD:11897
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
cone 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 dystrophy ClinVar PMID:9054934 PMID:9973280 PMID:10880298 PMID:10958761 PMID:16103129 PMID:20335603 PMID:22968130 PMID:23134348 PMID:23940504 PMID:24265693 PMID:25346251 PMID:25525159 PMID:25741868 PMID:26593885 PMID:28041643 PMID:28118664 PMID:28224992 PMID:28341476 PMID:28492532 PMID:30718709 PMID:33546218 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 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 Bbs5 Bardet-Biedl syndrome 5 ISO ClinVar Annotator: match by term: Cone 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 Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 PMID:28041643 NCBI chr 1:219,383,452...219,388,009
Ensembl chr 1:219,383,452...219,388,009
JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO
ISS
ClinVar Annotator: match by term: Cone dystrophy
ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY
OMIM:180020 | OMIM:610024 | OMIM:610356 | OMIM:610478 | OMIM:613093
ClinVar
MouseDO
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
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 PMID:26766544 PMID:28041643 PMID:28492532 PMID:28765526 PMID:30718709 PMID:33546218 NCBI chr16:14,328,161...14,348,049
Ensembl chr16:14,328,160...14,348,046
JBrowse link
G Cerkl ceramide kinase-like ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:14681825 PMID:21151602 PMID:22164218 PMID:24043777 PMID:24625443 PMID:25097241 PMID:25741868 PMID:25999674 PMID:28041643 PMID:28492532 PMID:30718709 PMID:221642182 NCBI 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 dystrophy ClinVar PMID:25741868 PMID:26167768 PMID:26974433 PMID:27596865 PMID:28041643 PMID:28422394 PMID:28492532 NCBI chr20:11,417,428...11,424,301
Ensembl chr20:11,417,429...11,424,324
JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:18521937 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 Gnat2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Cone 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 dystrophy
ClinVar Annotator: match by term: RETINAL CONE 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 dystrophy
ClinVar Annotator: match by term: RETINAL CONE 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 dystrophy ClinVar PMID:8554074 PMID:9618177 PMID:10676808 PMID:11115851 PMID:11565546 PMID:12552567 PMID:15175914 PMID:18055820 PMID:21602930 PMID:24875811 PMID:25741868 PMID:26298565 PMID:28041643 PMID:28492532 PMID:29178642 PMID:30718709 PMID:33546218 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISS
ISO
OMIM:180020 | OMIM:610024 | OMIM:610356 | OMIM:610478 | OMIM:613093
ClinVar Annotator: match by term: Cone dystrophy
ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY
MouseDO
ClinVar
PMID:23885164 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 Mall mal, T-cell differentiation protein-like ISO ClinVar Annotator: match by term: Cone 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 Mtln mitoregulin ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:28041643 NCBI chr 3:120,372,665...120,373,523 JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar 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 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 Pde6c phosphodiesterase 6C ISS
ISO
OMIM:180020 | OMIM:610024 | OMIM:610356 | OMIM:610478 | OMIM:613093
ClinVar Annotator: match by term: Cone dystrophy
MouseDO
ClinVar
NCBI chr 1:256,822,099...256,885,879
Ensembl chr 1:256,822,334...256,877,810
JBrowse link
G Pde6h phosphodiesterase 6H ISS OMIM:180020 | OMIM:610024 | OMIM:610356 | OMIM:610478 | OMIM:613093 MouseDO NCBI chr 4:170,947,723...170,963,046
Ensembl chr 4:170,958,196...170,963,046
JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:25741868 NCBI chr10:58,618,679...58,722,679
Ensembl chr10:58,618,645...58,693,754
JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:8644804 PMID:19038374 PMID:19243827 PMID:25741868 PMID:28076437 PMID:28492532 PMID:28559085 PMID:30718709 PMID:33546218 NCBI chr 9:16,085,933...16,386,176 JBrowse link
G Rgr retinal G protein coupled receptor ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:10581022 PMID:25741868 PMID:27623334 PMID:28492532 PMID:30337596 NCBI chr16:14,286,323...14,300,972
Ensembl chr16:14,286,323...14,300,951
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Cone dystrophy ClinVar PMID:11857109 PMID:11875055 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 dystrophy ClinVar PMID:25741868 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: Cone dystrophy ClinVar PMID:25741868 NCBI chr 9:94,926,901...94,972,162
Ensembl chr 9:94,928,489...94,972,027
JBrowse link
Cone Dystrophy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Cone dystrophy 4 OMIM
ClinVar
PMID:9536098 PMID:10393054 PMID:17576681 PMID:18614542 PMID:19615668 PMID:25326637 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28704108 PMID:30080950 PMID:33546218 NCBI chr 1:256,822,099...256,885,879
Ensembl chr 1:256,822,334...256,877,810
JBrowse link
Retinal Cone Dystrophy 3A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6h phosphodiesterase 6H ISO ClinVar Annotator: match by term: Retinal cone dystrophy 3A
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:15629837 PMID:22901948 PMID:25741868 PMID:27472364 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 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 night blindness and supernormal rod responses KCNV2 related
ClinVar Annotator: match by term: CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES
ClinVar Annotator: match by term: cone dystrophy with supernormal rod electroretinogram
ClinVar Annotator: match by term: Retinal cone dystrophy 3B
ClinVar Annotator: match by OMIM:610356
OMIM
ClinVar
PMID:8333273 PMID:16909397 PMID:17896311 PMID:18235024 PMID:18400204 PMID:21402906 PMID:21882291 PMID:21911584 PMID:23115240 PMID:23725738 PMID:23885164 PMID:25741868 PMID:28041643 PMID:28224992 PMID:28492532 PMID:30718709 PMID:33546218 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 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    sensory system disease 5336
      eye disease 2649
        retinal disease 806
          cone dystrophy 26
            Cone Dystrophy 4 1
            Cone Dystrophy, X-Linked, with Tapetal-like Sheen 0
            Retinal Cone Dystrophy 1 0
            Retinal Cone Dystrophy 3A 1
            Retinal Cone Dystrophy 3B 1
            Retinal Cone Dystrophy 4 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        sensory system disease 5336
          eye disease 2649
            retinal disease 806
              cone dystrophy 26
                Cone Dystrophy 4 1
                Cone Dystrophy, X-Linked, with Tapetal-like Sheen 0
                Retinal Cone Dystrophy 1 0
                Retinal Cone Dystrophy 3A 1
                Retinal Cone Dystrophy 3B 1
                Retinal Cone Dystrophy 4 1
paths to the root