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.
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Atp4b
ATPase H+/K+ transporting subunit beta
ISO
RGD
PMID:30539573
RGD:14696739
NCBI chr16:76,144,150...76,153,063
Ensembl chr16:76,144,150...76,153,063
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19448967
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Mir146a
microRNA 146a
exacerbates
ISO
associated with Helicobacter Infections;miRNA:SNP, haplotype: (rs2910164) (human)
RGD
PMID:20721625
RGD:126925150
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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Mir155
microRNA 155
treatment
IEP
RGD
PMID:27293468
RGD:25671480
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Nfkb1
nuclear factor kappa B subunit 1
severity
ISO
associated with Helicobacter Infections
RGD
PMID:23975431
RGD:40902973
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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Nfkb2
nuclear factor kappa B subunit 2
ISO
associated with Helicobacter Infections
RGD
PMID:23975431
RGD:40902973
NCBI chr 1:245,164,586...245,173,225
Ensembl chr 1:245,165,950...245,173,213
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Pth
parathyroid hormone
ISO
protein:increased expression:serum (human)
RGD
PMID:23447517
RGD:7242421
NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
susceptibility severity
ISO
associated with Helicobacter Infections; DNA:SNP:Cds: associated with Helicobacter Infections; DNA:SNP: :rs12423190 (human DNA:SNP:intron:rs2301756 (human) associated with Helicobacter Infections;DNA:SNP:intron: rs2301756(human)
RGD
PMID:17211494 PMID:22788847 PMID:18712962 PMID:19589142
RGD:39128202 , RGD:39131289 , RGD:39131286 , RGD:39128247
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Rel
REL proto-oncogene, NF-kB subunit
ISO
associated with Helicobacter Infections
RGD
PMID:23975431
RGD:40902973
NCBI chr14:97,690,105...97,721,194
Ensembl chr14:97,695,161...97,720,892
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphism (human) associated with Helicobacter Infections; DNA:polymorphism: :HLA- DQB1*0401(human)
RGD
PMID:20082482 PMID:10616761
RGD:5147582 , RGD:36174021
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
ISO
DNA:polymorphism (human)
RGD
PMID:20082482
RGD:5147582
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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