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 chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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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 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
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Gstm1
glutathione S-transferase mu 1
susceptibility treatment
ISO
associated with Ovarian Neoplasms;DNA:deletion: : (human) associated with diffuse large B-cell lymphoma; DNA:deletion:cds:
RGD
PMID:19786980 PMID:20303013
RGD:5688741 , RGD:10450835
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstt1
glutathione S-transferase theta 1
treatment
ISO
associated with diffuse large B-cell lymphoma; DNA:deletion:cds:
RGD
PMID:20303013
RGD:10450835
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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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 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b
interleukin 1 beta
treatment
ISO
associated with Glioblastoma;
RGD
PMID:1331350
RGD:10450883
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Pecam1
platelet and endothelial cell adhesion molecule 1
severity
ISO
RGD
PMID:10942385 PMID:17234740
RGD:11541093 , RGD:11541120
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Pf4
platelet factor 4
treatment
IEP
RGD
PMID:31863655
RGD:329901923
NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365
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Fcgr2a
Fc gamma receptor 2A
ISO
RGD
PMID:8772238
RGD:11040889
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Fcgr3a
Fc gamma receptor 3A
susceptibility
ISO
DNA:SNP:cds:p.V158F(human)
RGD
PMID:15191947
RGD:11040991
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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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 PMID:22239992
RGD:11049164 , RGD:11049164
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all