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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Drd2
dopamine receptor D2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17332411 PMID:19940168 PMID:20671181
NCBI chrNW_004955412:15,054,255...15,114,558
Ensembl chrNW_004955412:15,054,038...15,114,573
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Drd3
dopamine receptor D3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17332411 PMID:19940168 PMID:20671181
NCBI chrNW_004955427:14,219,519...14,252,178
Ensembl chrNW_004955427:14,219,594...14,252,178
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Fosb
FosB proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18539927
NCBI chrNW_004955555:2,438,864...2,445,846
Ensembl chrNW_004955555:2,438,864...2,445,846
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Prl
prolactin
ISO
associated with substance abuse;protein:increased expression:blood plasma (human)
RGD
PMID:2720017
RGD:401976444
NCBI chrNW_004955483:4,495,257...4,503,377
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Maoa
amine oxidase [flavin-containing] A
ISO
ClinVar Annotator: match by term: Brunner syndrome | ClinVar Annotator: match by term: MAOA-related condition
OMIM ClinVar
PMID:8211186 PMID:9536098 PMID:11700166 PMID:17296899 PMID:17576681 PMID:20340138 PMID:22382802 PMID:24169519 PMID:25741868 PMID:25807999 PMID:28492532 PMID:30452590 More...
NCBI chrNW_004955516:4,494,133...4,576,317
Ensembl chrNW_004955516:4,493,946...4,576,317
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Maob
monoamine oxidase B
ISO
ClinVar Annotator: match by term: Brunner syndrome
ClinVar
PMID:8211186 PMID:17296899 PMID:20340138 PMID:22382802 PMID:28492532 PMID:30452590 More...
NCBI chrNW_004955516:4,328,286...4,473,419
Ensembl chrNW_004955516:4,328,476...4,472,593
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Ndp
norrin cystine knot growth factor NDP
ISO
ClinVar Annotator: match by term: Brunner syndrome
ClinVar
PMID:8211186 PMID:17296899 PMID:20340138 PMID:22382802 PMID:28492532 PMID:30452590 More...
NCBI chrNW_004955516:4,218,703...4,244,774
Ensembl chrNW_004955516:4,218,703...4,244,846
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Comt
catechol-O-methyltransferase
sexual_dimorphism
ISO
associated with schizophrenia; DNA:polymorphism:cd: p.V158M (human)
RGD
PMID:11204347
RGD:401950497
NCBI chrNW_004955442:18,130,282...18,152,153
Ensembl chrNW_004955442:18,130,987...18,137,412
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Comt
catechol-O-methyltransferase
susceptibility
ISO
DNA:SNP:cd: p.V158M (rs4680) (human)
RGD
PMID:24390676
RGD:401940156
NCBI chrNW_004955442:18,130,282...18,152,153
Ensembl chrNW_004955442:18,130,987...18,137,412
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Drd3
dopamine receptor D3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10523822
NCBI chrNW_004955427:14,219,519...14,252,178
Ensembl chrNW_004955427:14,219,594...14,252,178
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Drd4
dopamine receptor D4
ISO
DNA:duplication:exon:g.2689_2737dup (human)
RGD
PMID:10402503
RGD:13210523
NCBI chrNW_004955476:11,424,347...11,426,962
Ensembl chrNW_004955476:11,424,411...11,426,960
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Htr2a
5-hydroxytryptamine receptor 2A
ISO
DNA:SNP: :102T>C (rs6313)
RGD
PMID:22740152
RGD:401900607
NCBI chrNW_004955431:583,165...646,991
Ensembl chrNW_004955431:580,713...647,345
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Slitrk1
SLIT and NTRK like family member 1
ISO
ClinVar Annotator: match by term: Trichotillomania
OMIM ClinVar
PMID:20301778 PMID:25741868
NCBI chrNW_004955404:24,436,394...24,439,749
Ensembl chrNW_004955404:24,437,299...24,439,389
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