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
Ifng
interferon gamma
ISO
RGD
PMID:10227812
RGD:8157614
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Il2
interleukin 2
ISO
protein:increased expression:aqueous humor
RGD
PMID:21570674
RGD:5147908
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
G
RT1-CE13
RT1 class I, locus CE13
ISO
DNA:polymorphisms:cds:HLA-B12 (human)
RGD
PMID:3341436
RGD:7365121
NCBI chr20:3,314,830...3,318,106
G
Col2a1
collagen type II alpha 1 chain
ISO
associated with Toxoplasmosis, Congenital;DNA:snp:intron:IVS2-218 (rs1793958) (human)
RGD
PMID:18523590
RGD:8657355
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
G
Cfb
complement factor B
no_association
ISO
DNA:missense mutations:cds:p.L9H, p.R32Q (rs4151667, rs641153) (human)
RGD
PMID:19001225
RGD:7411728
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
G
Cfh
complement factor H
ISO
DNA:SNPs, missense mutation:introns, cds:multiple
RGD
PMID:19001225
RGD:7411728
NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
G
Il10
interleukin 10
ISO
DNA:SNP:promoter:−1082G>A (human)
RGD
PMID:18436829
RGD:7365046
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il6
interleukin 6
susceptibility
ISO
DNA:polymorphism:promoter:-174G>C(human)
RGD
PMID:23336844
RGD:7829805
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all