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
Aspg
asparaginase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12902918
NCBI chr 6:131,176,727...131,196,268
Ensembl chr 6:131,176,874...131,196,268
G
Apob
apolipoprotein B
ISO
protein:increased expression:serum
RGD
PMID:18076041
RGD:2325763
NCBI chr 6:30,844,386...30,883,983
Ensembl chr 6:30,844,368...30,892,497
G
Fscn1
fascin actin-bundling protein 1
ISO
mRNA, protein:increased expression: :
RGD
PMID:15136764
RGD:2317789
NCBI chr12:11,597,042...11,610,183
Ensembl chr12:11,597,048...11,610,211
G
Msln
mesothelin
ISO
protein:increased expression:common bile duct, ampulla of vater
RGD
PMID:16416732
RGD:2326064
NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643
G
Mtap
methylthioadenosine phosphorylase
ISO
DNA, protein:deletion, decreased expression:common bile duct:
RGD
PMID:15662124
RGD:2317954
NCBI chr 5:103,874,460...103,920,684
Ensembl chr 5:103,873,020...103,939,406
G
Muc1
mucin 1, cell surface associated
disease_progression
ISO
protein:increased expression:bile duct
RGD
PMID:8766528
RGD:2324856
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
G
Muc4
mucin 4, cell surface associated
ISO
protein:increased expression:pancreas
RGD
PMID:8143972
RGD:2324890
NCBI chr11:68,008,245...68,053,242
G
Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
protein:altered expression:pancreas
RGD
PMID:8143972
RGD:2324890
NCBI chr 1:196,864,336...196,896,475
Ensembl chr 1:196,864,336...196,896,475
G
Tymp
thymidine phosphorylase
disease_progression
ISO
RGD
PMID:10760693
RGD:2325158
NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all