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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ABCB1
ATP binding cassette subfamily B member 1
no_association sexual_dimorphism
ISO
DNA:haplotype: :3435T> C,2677T>G ,1236C>T (human) associated with peptic ulcer disease;DNA:SNP: :3435C>T(human)
RGD
PMID:22001987 PMID:27611887
RGD:39456093 RGD:39456122
NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727
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ACE
angiotensin I converting enzyme
susceptibility
ISO
DNA:insertion/deletion:intron:
RGD
PMID:28746216
RGD:40400710
NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
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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 chr27:3,009,710...3,029,726
Ensembl chr27:2,994,857...3,042,396
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AICDA
activation induced cytidine deaminase
ISO
protein:increased expression:mucosa of stomach (human)
RGD
PMID:23591766
RGD:127285627
NCBI chr27:37,064,107...37,073,791
Ensembl chr27:37,064,080...37,073,789
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ATM
ATM serine/threonine kinase
ISO
associated with gastritis;mRNA:increased expression:mucosa of stomach (human) associated with stomach cancer;mRNA:increased expression:stomach (human)
RGD
PMID:25069978 PMID:29128564
RGD:126790563 RGD:126790566
NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207
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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:11398794 PMID:27282269
RGD:153297818 RGD:153305954
NCBI chr 5:29,324,893...29,343,322
Ensembl chr 5:29,325,331...29,337,240
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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 chr27:40,563,306...40,593,362
Ensembl chr27:40,564,921...40,594,255
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CD1D
CD1d molecule
ISO
associated with dyspepsia;mRNA:splice variant:pyloric antrum (human)
RGD
PMID:26119195
RGD:11074500
NCBI chr38:23,489,169...23,491,712
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CDH1
cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19184424
NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878
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CDKN1B
cyclin dependent kinase inhibitor 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15138205
NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906
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CXCL8
C-X-C motif chemokine ligand 8
disease_progression
ISO
associated with gastritis;mRNA:increased expression:stomach (mouse, Helicobacter felis) mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:17242461 PMID:29085807
RGD:38549339 RGD:38549349
NCBI chr13:62,435,035...62,438,354
Ensembl chr13:62,434,422...62,438,354
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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:32,533,365...32,568,149
Ensembl chr X:32,533,320...32,568,217
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CYSLTR1
cysteinyl leukotriene receptor 1
treatment
ISO
RGD
PMID:18571838
RGD:40903061
NCBI chr X:60,462,290...60,513,155
Ensembl chr X:60,463,526...60,464,548
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DLA-DQB1
major histocompatibility complex, class II, DQ beta 1
susceptibility
ISO
associated with Purpura, Thrombocytopenic, Idiopathic;DNA:polymorphisms (human) DNA:polymorphisms: :HLA-DQB1*301, HLA-DQB1*04(human)
RGD
PMID:15833172 PMID:16011982
RGD:36049761 RGD:5147649
NCBI chr12:2,305,307...2,307,711
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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 chr30:11,521,833...11,541,719
Ensembl chr30:11,521,845...11,541,716
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EGF
epidermal growth factor
treatment
ISO
associated with gastritis;
RGD
PMID:25051417
RGD:38599160
NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295
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EGFR
epidermal growth factor receptor
treatment
ISO
associated with gastritis;
RGD
PMID:25051417 PMID:28473630
RGD:38599160 RGD:38599214
NCBI chr18:5,983,669...6,044,092
Ensembl chr18:5,982,770...6,042,631
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ERBB2
erb-b2 receptor tyrosine kinase 2
treatment
ISO
associated with gastritis;
RGD
PMID:25051417
RGD:38599160
NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294
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F2R
coagulation factor II thrombin receptor
ISO
RGD
PMID:24866378
RGD:40924630
NCBI chr 3:29,870,159...29,889,837
Ensembl chr 3:29,872,155...29,889,687
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GAB1
GRB2 associated binding protein 1
susceptibility
ISO
DNA:SNP:intron:
RGD
PMID:17211494
RGD:39128202
NCBI chr19:10,269...117,808
Ensembl chr19:12,616...156,694
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HAMP
hepcidin antimicrobial peptide
treatment
ISO
RGD
PMID:21757452
RGD:11041721
NCBI chr 1:117,305,531...117,306,587
Ensembl chr 1:117,305,411...117,306,619
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HLA-DRB1
MHC class II DLA DRB1 beta chain
susceptibility
ISO
associated with Purpura, Thrombocytopenic, Idiopathic;DNA:polymorphisms (human) DNA:polymorphisms: :HLA-DRB1*11, HLA-DRB1*12(human)
RGD
PMID:15833172 PMID:16011982
RGD:36049761 RGD:5147649
NCBI chr12:2,151,409...2,164,564
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HMOX1
heme oxygenase 1
ISO
RGD
PMID:16100019
RGD:1598398
NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
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IFNG
interferon gamma
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
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IFNGR1
interferon gamma receptor 1
susceptibility
ISO
ClinVar Annotator: match by term: Helicobacter pylori infection, susceptibility to
ClinVar OMIM
PMID:10192386 PMID:11583830 PMID:12516030 PMID:16690980 PMID:18171304 PMID:19488747 PMID:20015550 PMID:25741868 PMID:28492532 PMID:28902581 More...
NCBI chr 1:29,646,776...29,669,669
Ensembl chr 1:29,647,552...29,669,578
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IL1B
interleukin 1 beta
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
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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 chr19:17,641,833...17,651,275
Ensembl chr19:17,641,833...17,651,266
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IL33
interleukin 33
severity
ISO
associated with Helicobacter Infections;DNA:SNP: : rs1929992(human) mRNA:increased expression:stomach
RGD
PMID:31320834 PMID:31491552
RGD:39938849 RGD:39939030
NCBI chr11:27,219,878...27,256,723
Ensembl chr11:27,219,878...27,256,721
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IL6
interleukin 6
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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LCN2
lipocalin 2
ISO
protein:increased expression:gastric mucosa
RGD
PMID:19727808
RGD:126781713
NCBI chr 9:55,328,118...55,342,535
Ensembl chr 9:55,328,133...55,332,038
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LOC100855904
mucin-6
ISO
protein:increased expression:stomach epithelium
RGD
PMID:15280409
RGD:7364760
NCBI chr18:45,359,412...45,376,678
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LTB4R
leukotriene B4 receptor
treatment
ISO
RGD
PMID:18571838
RGD:40903061
NCBI chr 8:4,282,924...4,286,869
Ensembl chr 8:4,285,323...4,286,534
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MAPK8
mitogen-activated protein kinase 8
ISO
protein:increased expression:pyloric antrum (human)
RGD
PMID:17643099
RGD:150340691
NCBI chr28:323,361...410,367
Ensembl chr28:368,513...406,401
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MIR155
microRNA mir-155
ISO
miRNA:increased expression:stomach
RGD
PMID:28560185 PMID:29250766
RGD:21408595 RGD:25671377
NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833
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MIR222
microRNA mir-222
ISO
associated with stomach cancer;RNA:increased expression:stomach:
RGD
PMID:29227536
RGD:151708731
NCBI chr X:39,524,519...39,524,608
Ensembl chr X:39,524,519...39,524,608
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MTHFR
methylenetetrahydrofolate reductase
susceptibility
ISO
associated with stomach cancer;DNA:missense mutation:cds:g.677C>T (human)
RGD
PMID:20957490 PMID:23183616
RGD:38501056 RGD:38501057
NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
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MYD88
MYD88 innate immune signal transduction adaptor
ISO
RGD
PMID:28201999
RGD:150519916
NCBI chr23:7,901,578...7,905,274
Ensembl chr23:7,901,250...7,904,534
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PDCD1
programmed cell death 1
severity
ISO
RGD
PMID:21562113
RGD:40818417
NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723
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PRKAA1
protein kinase AMP-activated catalytic subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28220687
NCBI chr 4:68,579,061...68,614,548
Ensembl chr 4:68,579,037...68,611,841
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PSCA
prostate stem cell antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28220687
NCBI chr13:36,773,434...36,776,740
Ensembl chr13:36,773,875...36,776,194
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PTEN
phosphatase and tensin homolog
ISO
associated with gastritis;protein:increased phosphorylation:stomach (human)
RGD
PMID:26376616
RGD:127285599
NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
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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 chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
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PTPRZ1
protein tyrosine phosphatase receptor type Z1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17030583
NCBI chr14:59,769,553...59,944,111
Ensembl chr14:59,827,650...59,943,315
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SLC6A4
solute carrier family 6 member 4
ISO
DNA:repeats:promoter:
RGD
PMID:24720453
RGD:36947385
NCBI chr 9:44,224,026...44,259,655
Ensembl chr 9:44,224,229...44,259,736
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SOCS3
suppressor of cytokine signaling 3
ISO
mRNA, protein:increased expression
RGD
PMID:17405912
RGD:1625683
NCBI chr 9:2,859,267...2,859,944
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TFF1
trefoil factor 1
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr31:36,681,478...36,684,571
Ensembl chr31:36,681,357...36,695,665
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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:38549349 RGD:7364760
NCBI chr31:36,665,647...36,668,423
Ensembl chr31:36,665,514...36,668,440
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TFF3
trefoil factor 3
disease_progression
ISO
mRNA:altered expression:gastric antrum (mouse)
RGD
PMID:29085807
RGD:38549349
NCBI chr31:36,638,762...36,641,696
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TFRC
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16733738 PMID:17163184
NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242
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VIP
vasoactive intestinal peptide
ISO
protein:increased expression:spinal cord, stomach
RGD
PMID:19906107
RGD:5685602
NCBI chr 1:42,941,655...42,950,160
Ensembl chr 1:42,941,224...42,950,700
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