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.
Term: Helicobacter Infections
Accession: DOID:9008114
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Definition: Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease.
Synonyms: exact_synonym: Helicobacter Infection
related_synonym: HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO
primary_id: MESH:D016481
alt_id: OMIM:600263
xref: EFO:1000961
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Abcb1a
ATP binding cassette subfamily B member 1A
sexual_dimorphism no_association
ISO
associated with peptic ulcer disease;DNA:SNP: :3435C>T(human) DNA:haplotype: :3435T> C,2677T>G ,1236C>T (human)
RGD
PMID:22001987 PMID:27611887
RGD:39456093 , RGD:39456122
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Ace
angiotensin I converting enzyme
susceptibility
ISO
DNA:insertion/deletion:intron:
RGD
PMID:28746216
RGD:40400710
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Acvr1b
activin A receptor type 1B
disease_progression
ISO
associated with stomach cancer;mRNA:increased expression:stomach:
RGD
PMID:32066878
RGD:151665490
NCBI chr 7:132,286,266...132,329,679
Ensembl chr 7:132,286,275...132,329,673
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Aicda
activation-induced cytidine deaminase
ISO
protein:increased expression:mucosa of stomach (human)
RGD
PMID:23591766
RGD:127285627
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Atm
ATM serine/threonine kinase
ISO
associated with stomach cancer;mRNA:increased expression:stomach (human)
RGD
PMID:29128564
RGD:126790563
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Birc3
baculoviral IAP repeat-containing 3
treatment
ISO
associated with stomach cancer associated with MALT lymphoma;DNA:gene fusion: (human)
RGD
PMID:27282269 PMID:11398794
RGD:153297818 , RGD:153305954
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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Ccnd2
cyclin D2
treatment
ISO
associated with Gastrointestinal Neoplasms or gastritis mRNA:increased expression:stomach:
RGD
PMID:11552926 PMID:12133540
RGD:151665103 , RGD:151665119
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Cd1d1
CD1d1 molecule
ISO
associated with dyspepsia;mRNA:splice variant:pyloric antrum (human)
RGD
PMID:26119195
RGD:11074500
NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089
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Cdh1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19184424
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15138205
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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Cxcl6
C-X-C motif chemokine ligand 6
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr14:17,310,790...17,312,250
Ensembl chr14:17,310,426...17,313,093
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Cybb
cytochrome b-245 beta chain
disease_progression
ISO
mRNA,protein:increased expression:mucosa of stomach (human)
RGD
PMID:27048452
RGD:40924640
NCBI chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586
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Cyp2c6
cytochrome P450, family 2, subfamily C, polypeptide 6
treatment no_association
ISO
DNA:polymorphisms:exons: DNA:polymorphisms::
RGD
PMID:9867757 PMID:15691303 PMID:27706745
RGD:124713408 , RGD:124713409 , RGD:124713537
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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Cysltr1
cysteinyl leukotriene receptor 1
treatment
ISO
RGD
PMID:18571838
RGD:40903061
NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
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Duox2
dual oxidase 2
disease_progression
ISO
mRNA,protein:decreased expression:mucosa of stomach (human)
RGD
PMID:27048452
RGD:40924640
NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
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Egf
epidermal growth factor
treatment
ISO
associated with gastritis;
RGD
PMID:25051417
RGD:38599160
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
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Egfr
epidermal growth factor receptor
treatment
ISO
associated with gastritis;
RGD
PMID:25051417 PMID:28473630
RGD:38599160 , RGD:38599214
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Erbb2
erb-b2 receptor tyrosine kinase 2
treatment
ISO
associated with gastritis;
RGD
PMID:25051417
RGD:38599160
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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F2r
coagulation factor II (thrombin) receptor
ISO
RGD
PMID:24866378
RGD:40924630
NCBI chr 2:26,869,343...26,885,856
Ensembl chr 2:26,868,404...26,885,870
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Gab1
GRB2-associated binding protein 1
susceptibility
ISO
DNA:SNP:intron:
RGD
PMID:17211494
RGD:39128202
NCBI chr19:27,131,262...27,239,236
Ensembl chr19:27,131,262...27,239,236
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Hamp
hepcidin antimicrobial peptide
treatment
ISO
RGD
PMID:21757452
RGD:11041721
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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Hmox1
heme oxygenase 1
ISO
RGD
PMID:16100019
RGD:1598398
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Ifng
interferon gamma
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Ifngr1
interferon gamma receptor 1
ISO
ClinVar Annotator: match by term: Helicobacter pylori infection, susceptibility to CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:10192386 PMID:11583830 PMID:12516030 PMID:16690980 PMID:18171304 PMID:19488747 PMID:20015550 PMID:25741868 PMID:28492532 PMID:28902581 More...
NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785
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Il1b
interleukin 1 beta
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il21
interleukin 21
ISO
mRNA, protein:increased expression:mucosa of stomach (human)
RGD
PMID:17442980 PMID:31383743
RGD:127285542 , RGD:127285544
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
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Il33
interleukin 33
severity
ISO
associated with Helicobacter Infections;DNA:SNP: : rs1929992(human) mRNA:increased expression:stomach
RGD
PMID:31491552 PMID:31320834
RGD:39938849 , RGD:39939030
NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
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Il6
interleukin 6
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Lcn2
lipocalin 2
ISO
protein:increased expression:gastric mucosa
RGD
PMID:19727808
RGD:126781713
NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
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Ltb4r
leukotriene B4 receptor
treatment
ISO
RGD
PMID:18571838
RGD:40903061
NCBI chr15:29,263,199...29,265,716
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Mapk8
mitogen-activated protein kinase 8
ISO
protein:increased expression:pyloric antrum (human)
RGD
PMID:17643099
RGD:150340691
NCBI chr16:8,638,897...8,721,960
Ensembl chr16:8,638,924...8,721,981
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Mir155
microRNA 155
ISO
miRNA:increased expression:stomach
RGD
PMID:29250766 PMID:28560185
RGD:21408595 , RGD:25671377
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir222
microRNA 222
ISO
associated with stomach cancer;RNA:increased expression:stomach:
RGD
PMID:29227536
RGD:151708731
NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
associated with stomach cancer;DNA:missense mutation:cds:g.677C>T (human)
RGD
PMID:23183616 PMID:20957490
RGD:38501056 , RGD:38501057
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Muc6
mucin 6, oligomeric mucus/gel-forming
ISO
protein:increased expression:stomach epithelium
RGD
PMID:15280409
RGD:7364760
NCBI chr 1:196,726,678...196,764,842
Ensembl chr 1:196,726,807...196,764,842
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
RGD
PMID:28201999
RGD:150519916
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Pdcd1
programmed cell death 1
severity
ISO
RGD
PMID:21562113
RGD:40818417
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Prkaa1
protein kinase AMP-activated catalytic subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28220687
NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978
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Psca
prostate stem cell antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28220687
NCBI chr 7:106,598,203...106,603,114
Ensembl chr 7:106,595,284...106,609,746
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Pten
phosphatase and tensin homolog
ISO
associated with gastritis;protein:increased phosphorylation:stomach (human)
RGD
PMID:26376616
RGD:127285599
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
susceptibility
ISO
DNA:SNP:intron: rs2301756(human)
RGD
PMID:19589142
RGD:39128247
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Ptprz1
protein tyrosine phosphatase, receptor type Z1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17030583
NCBI chr 4:51,397,316...51,595,220
Ensembl chr 4:51,397,601...51,595,218
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RT1-Ba
RT1 class II, locus Ba
resistance
ISO
associated with Diabetes Mellitus, Insulin-Dependent
RGD
PMID:11860411
RGD:2301818
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
associated with Purpura, Thrombocytopenic, Idiopathic;DNA:polymorphisms (human) DNA:polymorphisms: :HLA-DQB1*301, HLA-DQB1*04(human)
RGD
PMID:16011982 PMID:15833172
RGD:5147649 , RGD:36049761
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
susceptibility
ISO
associated with Purpura, Thrombocytopenic, Idiopathic;DNA:polymorphisms (human) DNA:polymorphisms: :HLA-DRB1*11, HLA-DRB1*12(human)
RGD
PMID:16011982 PMID:15833172
RGD:5147649 , RGD:36049761
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Slc6a4
solute carrier family 6 member 4
ISO
DNA:repeats:promoter:
RGD
PMID:24720453
RGD:36947385
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
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Socs3
suppressor of cytokine signaling 3
IEP
mRNA, protein:increased expression
RGD
PMID:17405912
RGD:1625683
NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787
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Tff1
trefoil factor 1
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597
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Tff2
trefoil factor 2
disease_progression
ISO
protein:increased expression:stomach epithelium mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:15280409 PMID:29085807
RGD:7364760 , RGD:38549349
NCBI chr20:9,215,750...9,219,619
Ensembl chr20:9,215,761...9,219,619
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Tff3
trefoil factor 3
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054
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Tfrc
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16733738 PMID:17163184
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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Vip
vasoactive intestinal peptide
ISO
protein:increased expression:spinal cord, stomach
RGD
PMID:19906107
RGD:5685602
NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216
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