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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Bivm
basic, immunoglobulin-like variable motif containing
ISO
ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
ClinVar
PMID:25414442 PMID:28492532
NCBI chrNW_004936472:8,237,680...8,273,335
Ensembl chrNW_004936472:8,239,064...8,267,493
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Ccdc168
coiled-coil domain containing 168
ISO
ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
ClinVar
PMID:25414442 PMID:28492532
NCBI chrNW_004936472:8,305,760...8,337,456
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Ercc5
ERCC excision repair 5, endonuclease
ISO
ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
ClinVar
PMID:25414442 PMID:28492532
NCBI chrNW_004936472:8,209,482...8,234,696
Ensembl chrNW_004936472:8,209,540...8,234,334
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Fgf14
fibroblast growth factor 14
ISO
ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
ClinVar
PMID:25414442 PMID:28492532
NCBI chrNW_004936472:8,601,968...9,233,704
Ensembl chrNW_004936472:8,602,365...9,227,600
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Mettl21c
methyltransferase 21C, AARS1 lysine
ISO
ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
ClinVar
PMID:25414442 PMID:28492532
NCBI chrNW_004936472:8,355,075...8,366,229
Ensembl chrNW_004936472:8,354,807...8,365,399
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Poglut2
protein O-glucosyltransferase 2
ISO
ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
ClinVar
PMID:25414442 PMID:28492532
NCBI chrNW_004936472:8,273,517...8,285,384
Ensembl chrNW_004936472:8,273,497...8,286,494
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Slc10a2
solute carrier family 10 member 2
ISO
ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
ClinVar
PMID:25414442 PMID:28492532
NCBI chrNW_004936472:8,052,789...8,069,085
Ensembl chrNW_004936472:8,052,789...8,068,863
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Tex30
testis expressed 30
ISO
ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
ClinVar
PMID:25414442 PMID:28492532
NCBI chrNW_004936472:8,294,024...8,298,834
Ensembl chrNW_004936472:8,294,400...8,300,967
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Tpp2
tripeptidyl peptidase 2
ISO
ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25414442 PMID:25640679 PMID:25741868 PMID:28492532 PMID:30533531 PMID:33583942 PMID:33586135 More...
NCBI chrNW_004936472:8,370,607...8,438,376
Ensembl chrNW_004936472:8,369,736...8,438,412
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all