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
ABCC2
ATP binding cassette subfamily C member 2
susceptibility
ISO
associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP, haplotype:promoter,cds: 3972C>T, -24C>T(human)
RGD
PMID:20943283
RGD:11080978
NCBI chr14:110,955,698...111,038,898
Ensembl chr14:110,955,633...111,037,537
G
DPYD
dihydropyrimidine dehydrogenase
treatment
ISO
associated with Neoplasms;DNA:SNP:intron:IVS14+1G>A (human) associated with Stomach Neoplasms
RGD
PMID:19473056 PMID:23064955
RGD:11098817 RGD:11251740
NCBI chr 4:119,931,471...120,712,461
Ensembl chr 4:119,931,414...120,712,459
G
IL1A
interleukin 1 alpha
treatment
ISO
associated with Carcinoma, Non-Small-Cell Lung associated with Ovarian Neoplasms
RGD
PMID:7666093 PMID:8151314
RGD:11051963 RGD:11051964
NCBI chr 3:43,718,320...43,731,668
Ensembl chr 3:43,718,368...43,731,119
G
LOC110258578
interleukin-1 beta-like
treatment
ISO
associated with Glioblastoma;
RGD
PMID:1331350
RGD:10450883
G
PECAM1
platelet and endothelial cell adhesion molecule 1
severity
ISO
RGD
PMID:10942385 PMID:17234740
RGD:11541093 RGD:11541120
NCBI chr12:14,667,643...14,723,296
Ensembl chr12:14,649,044...14,723,293
G
FCGR3A
Fc fragment of IgG receptor IIIa
susceptibility
ISO
DNA:SNP:cds:p.V158F(human)
RGD
PMID:15191947
RGD:11040991
NCBI chr 4:88,948,357...88,956,513
G
IL10
interleukin 10
no_association
ISO
DNA:repeats, haplotype:promoter DNA:SNPs:promoter:rs1800896 (-1082G/A), rs1800871 (-819C/T), rs1800872 (-592C/A) (human)
RGD
PMID:22239992
RGD:11049164
NCBI chr 9:67,400,727...67,405,941
Ensembl chr 9:67,400,728...67,405,378
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all