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
Adm
adrenomedullin
ISO
protein:increased expression:pancreas, plasma
RGD
PMID:11331218
RGD:2325319
NCBI chr 1:164,745,484...164,747,655
Ensembl chr 1:164,745,466...164,747,654
G
Btc
betacellulin
ISO
protein:increased expression:pancreas
RGD
PMID:10724350
RGD:2326087
NCBI chr14:16,708,447...16,746,961
Ensembl chr14:16,707,982...16,747,049
G
Cd40
CD40 molecule
ISO
RGD
PMID:17982058
RGD:5491180
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
G
Cux1
cut-like homeobox 1
disease_progression exacerbates
ISO
mRNA:increased expression:pancreas (mouse) protein:increased expression:pancreas (human)
RGD
PMID:25248790 PMID:25248790
RGD:152985543 , RGD:152985543
NCBI chr12:20,107,062...20,425,868
Ensembl chr12:20,107,311...20,425,866
G
Cxcl12
C-X-C motif chemokine ligand 12
ISO
protein:increased expression:pancreas
RGD
PMID:19013212
RGD:2317608
NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168
G
Ins2
insulin 2
ISO
protein:altered expression:blood protein:altered localization:pancreas
RGD
PMID:8175958 PMID:2565624
RGD:2317266 , RGD:2317268
NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
G
Men1
menin 1
disease_progression
ISO
DNA:deletion:exon CTD Direct Evidence: marker/mechanism DNA:deletions:exons
CTD RGD
PMID:17961653 PMID:12941803 PMID:20138042 PMID:19208834
RGD:2317292 , RGD:2317288 , RGD:2317310
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
G
Ncam1
neural cell adhesion molecule 1
ISO
protein:increased expression:pancreas
RGD
PMID:8972754
RGD:2326080
NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
G
Rps15
ribosomal protein S15
IEP
RGD
PMID:3019805
RGD:61740
NCBI chr 7:9,416,003...9,417,442
Ensembl chr 7:9,416,004...9,417,450
G
Slc2a2
solute carrier family 2 member 2
ISO
protein:increased expression:pancreatic B cell mRNA:decreased expression:pancreatic islet
RGD
PMID:12114701 PMID:8421107
RGD:2324976 , RGD:2324977
NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933
G
Tgfa
transforming growth factor alpha
ISO
protein:increased expression:pancreas
RGD
PMID:8712689
RGD:2317472
NCBI chr 4:118,618,043...118,700,897
Ensembl chr 4:118,618,269...118,700,894
G
Tgfb1
transforming growth factor, beta 1
ISO
mRNA, protein:decreased expression:pancreatic islet
RGD
PMID:18058603
RGD:2325017
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
G
Kras
KRAS proto-oncogene, GTPase
severity
ISO
DNA:mutations:cds:
RGD
PMID:28570009
RGD:14398747
NCBI chr 4:178,185,418...178,218,484
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all