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.
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Acta2
actin alpha 2, smooth muscle
ISO
ClinVar Annotator: match by term: Moyamoya disease | ClinVar Annotator: match by term: Moyamoya syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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Fas
Fas cell surface death receptor
ISO
ClinVar Annotator: match by term: Moyamoya disease
ClinVar
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Mir126b
microRNA 126b
treatment
IDA
RGD
PMID:32644942
RGD:401850784
NCBI chr 3:9,415,087...9,415,159
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Phactr1
phosphatase and actin regulator 1
disease_progression
ISO
DNA:missense mutation:CDS:c.13185159G>T (p.V265L) (human)
RGD
PMID:32411507
RGD:401900691
NCBI chr17:21,560,364...22,040,166
Ensembl chr17:21,562,721...22,039,831
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Rnf213
ring finger protein 213
ISO
ClinVar Annotator: match by term: Moyamoya disease
ClinVar
PMID:33568546
NCBI chr10:104,656,329...104,755,669
Ensembl chr10:104,656,883...104,757,918
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RT1-CE16
RT1 class I, locus CE16
susceptibility
ISO
DNA:polymorphism:HLA-A02
RGD
PMID:22234791
RGD:329961315
NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
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Timp2
TIMP metallopeptidase inhibitor 2
ISO
RGD
PMID:16723886
RGD:1580650
NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611
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Gucy1a1
guanylate cyclase 1 soluble subunit alpha 1
ISO
ClinVar Annotator: match by term: MYMY1
ClinVar
PMID:26777256
NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
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Endov
endonuclease V
ISO
ClinVar Annotator: match by term: Moyamoya disease 2
ClinVar
NCBI chr10:104,760,059...104,777,732
Ensembl chr10:104,760,137...104,775,969
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Eng
endoglin
ISO
ClinVar Annotator: match by term: Moyamoya disease 2
ClinVar
PMID:25741868
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Rnf213
ring finger protein 213
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Moyamoya disease 2 | ClinVar Annotator: match by term: RNF213-related condition
OMIM CTD ClinVar
PMID:21048783 PMID:21799892 PMID:22377813 PMID:22931863 PMID:23110205 PMID:25278557 PMID:25741868 PMID:25956231 PMID:26126547 PMID:26530418 PMID:27515544 PMID:27736983 PMID:27745834 PMID:28492532 PMID:29483232 PMID:30671466 PMID:31474762 More...
NCBI chr10:104,656,329...104,755,669
Ensembl chr10:104,656,883...104,757,918
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Acta2
actin alpha 2, smooth muscle
ISO
ClinVar Annotator: match by term: Moyamoya disease 5 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:646322 PMID:9536098 PMID:13129918 PMID:15138499 PMID:17576681 PMID:17994018 PMID:19409525 PMID:20734336 PMID:20970362 PMID:21248741 PMID:21288906 PMID:22302747 PMID:22543189 PMID:22752479 PMID:22753406 PMID:22790431 PMID:22831780 PMID:22946110 PMID:23099432 PMID:23142374 PMID:23253043 PMID:23613326 PMID:24033266 PMID:24293535 PMID:24621862 PMID:24998021 PMID:25326635 PMID:25644172 PMID:25741868 PMID:25759435 PMID:25944730 PMID:26034244 PMID:26153420 PMID:26637293 PMID:27176728 PMID:27481187 PMID:27549731 PMID:27551047 PMID:27611364 PMID:28492532 PMID:28652363 PMID:28659821 PMID:29300374 PMID:30341550 PMID:31911919 PMID:32464348 PMID:36053285 PMID:36440024 More...
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
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Gucy1a1
guanylate cyclase 1 soluble subunit alpha 1
ISO
ClinVar Annotator: match by term: Moyamoya disease 6 with achalasia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:24581742 PMID:25741868 PMID:26777256 PMID:28492532
NCBI chr 2:167,418,615...167,482,293
Ensembl chr 2:167,418,640...167,481,671
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Ano1
anoctamin 1
ISO
OMIM
NCBI chr 1:199,751,439...199,900,099
Ensembl chr 1:199,751,439...199,900,069
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