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.
G
Apoe
apolipoprotein E
ISO
ClinVar Annotator: match by term: Apolipoprotein e, deficiency or defect of
ClinVar
PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 PMID:9157949 PMID:9649566 PMID:11500500 PMID:16103896 PMID:16143024 PMID:16690468 PMID:17289397 PMID:19667110 PMID:20031551 PMID:20031582 PMID:20981092 PMID:22069485 PMID:22992668 PMID:24239320 PMID:24507774 PMID:25502880 PMID:25741868 PMID:26377243 PMID:26802169 PMID:28492532 PMID:33116287 More...
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Apoe
apolipoprotein E
ISO
ClinVar Annotator: match by term: Broad beta disease | ClinVar Annotator: match by term: Broad-betalipoproteinemia
ClinVar
PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 PMID:9157949 PMID:9649566 PMID:11500500 PMID:16103896 PMID:16143024 PMID:16690468 PMID:17289397 PMID:19667110 PMID:20031551 PMID:20031582 PMID:20981092 PMID:22069485 PMID:22992668 PMID:24239320 PMID:24507774 PMID:25502880 PMID:25741868 PMID:26377243 PMID:26802169 PMID:28492532 PMID:33116287 More...
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Apoe
apolipoprotein E
ISO
ClinVar Annotator: match by term: Floating-betalipoproteinemia
ClinVar
PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 PMID:9157949 PMID:9649566 PMID:11500500 PMID:16103896 PMID:16143024 PMID:16690468 PMID:17289397 PMID:19667110 PMID:20031551 PMID:20031582 PMID:20981092 PMID:22069485 PMID:22992668 PMID:24239320 PMID:24507774 PMID:25502880 PMID:25741868 PMID:26377243 PMID:26802169 PMID:28492532 PMID:33116287 More...
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
G
Apoe
apolipoprotein E
ISO
ClinVar Annotator: match by term: Hyperlipemia with familial hypercholesterolemic xanthomatosis
ClinVar
PMID:2992507 PMID:3243553 PMID:3745433 PMID:6300187 PMID:7735921 PMID:9157949 PMID:9649566 PMID:11500500 PMID:16103896 PMID:16143024 PMID:16690468 PMID:17289397 PMID:19667110 PMID:20031551 PMID:20031582 PMID:20981092 PMID:22069485 PMID:22992668 PMID:24239320 PMID:24507774 PMID:25502880 PMID:25741868 PMID:26377243 PMID:26802169 PMID:28492532 PMID:33116287 More...
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
G
Apoa5
apolipoprotein A5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16143024
NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
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Apoc3
apolipoprotein C3
ISO
RGD
PMID:2879788
RGD:1578447
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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Apoe
apolipoprotein E
ISO
ClinVar Annotator: match by term: APOE5 VARIANT | ClinVar Annotator: match by term: Coronary artery disease, severe, susceptibility to | ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia | ClinVar Annotator: match by term: Floating-betalipoproteinemia | ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON) CTD Direct Evidence: marker/mechanism DNA:missense mutations, haplotypes:cds:p.C112R, p.R158C (human) DNA:missense mutation:cds:p.R158C (human)
ClinVar CTD OMIM RGD
PMID:1356443 PMID:1360898 PMID:1361196 PMID:1713245 PMID:2101409 PMID:2556398 PMID:2992507 PMID:3029073 PMID:3038959 PMID:3243553 PMID:3721502 PMID:3745433 PMID:3771793 PMID:6300187 PMID:6795720 PMID:7175379 PMID:7635945 PMID:7735921 PMID:9157949 PMID:9176854 PMID:9649566 PMID:10587578 PMID:11500500 PMID:12506591 PMID:12774036 PMID:15096402 PMID:15256764 PMID:16103896 PMID:16143024 PMID:16690468 PMID:17289397 PMID:19667110 PMID:20031551 PMID:20031582 PMID:20981092 PMID:22069485 PMID:22992668 PMID:24239320 PMID:24507774 PMID:25502880 PMID:25741868 PMID:26377243 PMID:26802169 PMID:28492532 PMID:33116287 PMID:15118671 PMID:199847 PMID:7175379 More...
RGD:1331525 , RGD:12880367 , RGD:14401584
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Ldlr
low density lipoprotein receptor
ISO
ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia
ClinVar
PMID:25741868
NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all