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
Ankrd1
ankyrin repeat domain 1
ISO
ClinVar Annotator: match by term: Systolic heart failure
ClinVar
PMID:19525294 PMID:23299917 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919
G
Bmp10
bone morphogenetic protein 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:31712309
NCBI chr 4:119,872,066...119,877,694
Ensembl chr 4:119,872,045...119,878,627
G
Dsp
desmoplakin
ISO
ClinVar Annotator: match by term: Systolic heart failure
ClinVar
PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800
G
Hspa1a
heat shock protein family A (Hsp70) member 1A
disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:23564583
RGD:7257646
NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227
G
Nppb
natriuretic peptide B
ISO
associated with Renal Insufficiency;protein:increased expression:plasma:
RGD
PMID:23725445 PMID:23122795
RGD:7246908 , RGD:7247627
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
G
Ttn
titin
ISO
ClinVar Annotator: match by term: Systolic heart failure
ClinVar
PMID:23861362 PMID:24033266 PMID:25163546 PMID:25741868 PMID:26467025 PMID:26516846 PMID:28492532 More...
NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all