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
Aicda
activation-induced cytidine deaminase
ISO
associated with Autoimmune Diseases
RGD
PMID:18716662
RGD:11039453
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
G
Arpc1b
actin related protein 2/3 complex, subunit 1B
ISO
DNA:hypermethylation:promoter: (human)
RGD
PMID:23292007
RGD:11046273
NCBI chr12:9,482,176...9,495,772
Ensembl chr12:9,480,831...9,495,747
G
Cblif
cobalamin binding intrinsic factor
IMP
RGD
PMID:1097299
RGD:11049585
NCBI chr 1:208,605,983...208,620,231
Ensembl chr 1:208,605,983...208,620,344
G
Ccl2
C-C motif chemokine ligand 2
treatment
IDA
RGD
PMID:23892052
RGD:11526150
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
G
Gstm1
glutathione S-transferase mu 1
ISO
RGD
PMID:15112335
RGD:14700949
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Mir155
microRNA 155
ISO
RGD
PMID:29250766
RGD:21408595
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
G
Nfkbia
NFKB inhibitor alpha
treatment
IDA
associated with Helicobacter Infections
RGD
PMID:25335260
RGD:10413874
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
G
Nod2
nucleotide-binding oligomerization domain containing 2
ISO
associated with Helicobacter Infections;DNA:SNP: :c.802C>T (human)
RGD
PMID:20230816
RGD:5508759
NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
G
Ptgs2
prostaglandin-endoperoxide synthase 2
IMP
mRNA:increased expression:stomach mucosa
RGD
PMID:18646190
RGD:2300274
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
G
Rnf43
ring finger protein 43
exacerbates
ISO
associated with Helicobacter Infections; DNA:missense mutations:CDS:p.H292R, p.H295R (mouse)
RGD
PMID:30884828
RGD:151361146
NCBI chr10:72,461,508...72,537,301
Ensembl chr10:72,464,348...72,536,977
G
Tnf
tumor necrosis factor
treatment
IDA
RGD
PMID:25335260
RGD:10413874
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
G
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
G
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
G
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
G
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
G
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
G
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
G
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
G
Ptpn11
protein tyrosine phosphatase, non-receptor type 11
susceptibility severity
ISO
associated with Helicobacter Infections; DNA:SNP:Cds: associated with Helicobacter Infections;DNA:SNP:intron: rs2301756(human) DNA:SNP:intron:rs2301756 (human) associated with Helicobacter Infections; DNA:SNP: :rs12423190 (human
RGD
PMID:17211494 PMID:19589142 PMID:18712962 PMID:22788847
RGD:39128202 , RGD:39128247 , RGD:39131286 , RGD:39131289
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
G
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
G
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
G
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
G
Jak2
Janus kinase 2
ISO
protein:increased expression:stomach (human)
RGD
PMID:24718681
RGD:126928128
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
G
Mir146a
microRNA 146a
ISO
associated with Helicobacter Infections;miRNA:increased expression:mucosa of stomach (human)
RGD
PMID:30535468
RGD:126925144
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
G
Mir375
microRNA 375
ISO
protein:decreased expression:stomach (human)
RGD
PMID:24718681
RGD:126928128
NCBI chr 9:76,457,911...76,457,985
Ensembl chr 9:76,457,911...76,457,985
G
Trem1
triggering receptor expressed on myeloid cells 1
ISO
mRNA,protein:increased expression:gastric epithelium
RGD
PMID:18321350
RGD:126928123
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
G
Ccl26
C-C motif chemokine ligand 26
ISO
mRNA:increased expression:gastric antrum (human)
RGD
PMID:25234644
RGD:11081160
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
G
Il5
interleukin 5
ISO
protein:increased expression:intestine, eosinophil
RGD
PMID:8608886
RGD:11354940
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
G
Atp4b
ATPase H+/K+ transporting subunit beta
ISO
RGD
PMID:20476858
RGD:14696744
NCBI chr16:76,144,150...76,153,063
Ensembl chr16:76,144,150...76,153,063
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all