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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:Coats disease
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Accession:DOID:7765 term browser browse the term
Synonyms:exact_synonym: Coats' disease;   Coats' syndrome;   exudative retinopathy
 xref: GARD:6121;   ICD10CM:H35.02;   ICD9CM:362.12
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Coats disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fzd4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Coats disease ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr 7:89,053,574...89,062,341
Ensembl chr 7:89,053,563...89,062,342 		JBrowse link
G Ndp Norrie disease (pseudoglioma) (human) ISO ClinVar Annotator: match by term: Exudative retinopathy ClinVar PMID:26908610 NCBI chr  X:16,751,760...16,778,013
Ensembl chr  X:16,751,760...16,778,013 		JBrowse link
G Pcdh12 protocadherin 12 ISO ClinVar Annotator: match by term: Exudative retinopathy ClinVar PMID:25741868 PMID:30459466 NCBI chr18:38,400,145...38,417,454
Ensembl chr18:38,400,142...38,417,455 		JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Coats disease ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr 7:89,156,988...89,176,399
Ensembl chr 7:89,156,991...89,176,395 		JBrowse link
G Rcbtb1 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 ISO ClinVar Annotator: match by term: Coats disease | ClinVar Annotator: match by term: Exudative retinopathy ClinVar PMID:25741868 PMID:26908610 PMID:28492532 PMID:31494449 NCBI chr14:59,438,471...59,474,716
Ensembl chr14:59,438,658...59,474,714 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Exudative retinopathy ClinVar PMID:7987331 PMID:9380676 PMID:10967073 PMID:25741868 PMID:28492532 More... NCBI chr 6:115,903,741...115,916,999
Ensembl chr 6:115,908,709...115,916,997 		JBrowse link
G Rnf14 ring finger protein 14 ISO ClinVar Annotator: match by term: Exudative retinopathy ClinVar PMID:25741868 PMID:30459466 NCBI chr18:38,410,513...38,450,905
Ensembl chr18:38,417,590...38,450,902 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CTS telomere maintenance complex component 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coats plus syndrome		 CTD
ClinVar		 PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 More... NCBI chr11:68,906,014...68,927,299
Ensembl chr11:68,906,737...68,927,299 		JBrowse link
G Stn1 STN1, CST complex subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:47,489,470...47,534,284
Ensembl chr19:47,489,472...47,525,946 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctc1 CTS telomere maintenance complex component 1 ISO ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16943371 PMID:17576681 PMID:18076099 More... NCBI chr11:68,906,014...68,927,299
Ensembl chr11:68,906,737...68,927,299 		JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1 ClinVar PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 More... NCBI chr11:68,876,527...68,899,286
Ensembl chr11:68,876,523...68,899,286 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stn1 STN1, CST complex subunit ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2 OMIM
ClinVar		 PMID:25741868 PMID:27432940 PMID:28492532 NCBI chr19:47,489,470...47,534,284
Ensembl chr19:47,489,472...47,525,946 		JBrowse link
Cerebroretinal Microangiopathy with Calcifications and Cysts 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pot1a protection of telomeres 1A ISO ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3 ClinVar
OMIM		 PMID:27013236 PMID:28492532 NCBI chr 6:25,743,939...25,809,280
Ensembl chr 6:25,743,736...25,809,245 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    sensory system disease 6747
      eye disease 3460
        retinal disease 1230
          retinal vascular disease 212
            retinal telangiectasia 14
              Coats disease 11
                Cerebroretinal Microangiopathy with Calcifications and Cysts + 4
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        Neurologic Manifestations 9790
          sensory system disease 6747
            eye disease 3460
              retinal disease 1230
                retinal vascular disease 212
                  retinal telangiectasia 14
                    Coats disease 11
                      Cerebroretinal Microangiopathy with Calcifications and Cysts + 4
paths to the root