MCID: GST063
MIFTS: 38

Gastric Cancer Risk After H. Pylori Infection malady

Genetic diseases, Gastrointestinal diseases, Cancer diseases, Rare diseases categories

Summaries for Gastric Cancer Risk After H. Pylori Infection

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OMIM:46 Hereditary diffuse gastric cancer is an autosomal dominant cancer predisposition syndrome. Heterozygous CDH1 mutation... (137215) more...

MalaCards based summary: Gastric Cancer Risk After H. Pylori Infection, also known as familial stomach cancer, is related to hereditary diffuse gastric cancer and familial adenomatous polyposis, and has symptoms including cleft palate, cleft upper lip and autosomal dominant inheritance. An important gene associated with Gastric Cancer Risk After H. Pylori Infection is IL1RN (interleukin 1 receptor antagonist), and among its related pathways are NOD-like Receptor Signaling Pathways and SIDS Susceptibility Pathways. The compounds anakinra and toxin-1 have been mentioned in the context of this disorder. Affiliated tissues include breast, and related mouse phenotypes are tumorigenesis and mortality/aging.

Aliases & Classifications for Gastric Cancer Risk After H. Pylori Infection

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Sources:
48Orphanet, 46OMIM, 27ICD10 via Orphanet
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Gastric Cancer Risk After H. Pylori Infection, Aliases & Descriptions:

Name: Gastric Cancer Risk After H. Pylori Infection 46
Familial Stomach Cancer 48
 
Familial Gastric Cancer 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
familial stomach cancer:
Inheritance: Multigenic/multifactorial; Age of onset: Adulthood


External Ids:

OMIM46 137215
ICD10 via Orphanet27 C16

Related Diseases for Gastric Cancer Risk After H. Pylori Infection

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Graphical network of the top 20 diseases related to Gastric Cancer Risk After H. Pylori Infection:



Diseases related to gastric cancer risk after h. pylori infection

Symptoms for Gastric Cancer Risk After H. Pylori Infection

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Symptoms by clinical synopsis from OMIM:

137215

Clinical features from OMIM:

137215

HPO human phenotypes related to Gastric Cancer Risk After H. Pylori Infection:

id Description Frequency HPO Source Accession
1 cleft palate rare (5%) HP:0000175
2 cleft upper lip rare (5%) HP:0000204
3 autosomal dominant inheritance HP:0000006
4 chronic atrophic gastritis HP:0002582
5 neoplasm HP:0002664

Drugs & Therapeutics for Gastric Cancer Risk After H. Pylori Infection

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Drug clinical trials:

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Search NIH Clinical Center for Gastric Cancer Risk After H. Pylori Infection

Genetic Tests for Gastric Cancer Risk After H. Pylori Infection

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Anatomical Context for Gastric Cancer Risk After H. Pylori Infection

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MalaCards organs/tissues related to Gastric Cancer Risk After H. Pylori Infection:

32
Breast

Animal Models for Gastric Cancer Risk After H. Pylori Infection or affiliated genes

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MGI Mouse Phenotypes related to Gastric Cancer Risk After H. Pylori Infection:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.4CDH1, IL1B, MUTYH
2MP:00107688.0CDH1, IL1B, IL1RN, MUTYH
3MP:00053767.7MUTYH, IL1RN, IL1B, CDH1

Publications for Gastric Cancer Risk After H. Pylori Infection

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Variations for Gastric Cancer Risk After H. Pylori Infection

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UniProtKB/Swiss-Prot genetic disease variations for Gastric Cancer Risk After H. Pylori Infection:

63
id Symbol AA change Variation ID SNP ID
1CDH1p.Asp244GlyVAR_008712
2CDH1p.Val487AlaVAR_008713
3CDH1p.Val832MetVAR_023358rs35572355

Clinvar genetic disease variations for Gastric Cancer Risk After H. Pylori Infection:

7 (show all 19)
id Gene Name Type Significance SNP ID Assembly Location
1CDH1NM_004360.3(CDH1): c.1849G> A (p.Ala617Thr)single nucleotide variantPathogenicrs33935154GRCh37Chr 16, 68856041: 68856041
2CDH1NM_004360.3(CDH1): c.781G> T (p.Glu261Ter)single nucleotide variantPathogenicrs121964873GRCh37Chr 16, 68844193: 68844193
3CDH1CDH1, 1-BP INS, 2382CinsertionPathogenic
4CDH1NM_004360.3(CDH1): c.2095C> T (p.Gln699Ter)single nucleotide variantPathogenicrs121964874GRCh37Chr 16, 68857460: 68857460
5CDH1CDH1, IVS1AS, A-G, -2single nucleotide variantPathogenic
6CDH1NM_004360.3(CDH1): c.59G> A (p.Trp20Ter)single nucleotide variantPathogenicrs121964875GRCh37Chr 16, 68772210: 68772210
7CDH1NM_004360.3(CDH1): c.70G> T (p.Glu24Ter)single nucleotide variantPathogenicrs121964876GRCh37Chr 16, 68772221: 68772221
8CDH1NM_004360.3(CDH1): c.1792C> T (p.Arg598Ter)single nucleotide variantPathogenicrs121964877GRCh37Chr 16, 68855984: 68855984
9CDH1CDH1, 1-BP INS, 1711GinsertionPathogenic
10CDH1CDH1, 1-BP INS, 1588CinsertionPathogenic
11CDH1NM_004360.3(CDH1): c.1901C> T (p.Ala634Val)single nucleotide variantPathogenicrs121964878GRCh37Chr 16, 68856093: 68856093
12CDH1NM_004360.3(CDH1): c.1018A> G (p.Thr340Ala)single nucleotide variantPathogenicrs116093741GRCh37Chr 16, 68846047: 68846047
13CDH1NM_004360.3(CDH1): c.2494G> A (p.Val832Met)single nucleotide variantPathogenicrs35572355GRCh37Chr 16, 68867247: 68867247
14CDH1nsv513771deletionPathogenic
15CDH1CDH1, 828-BP DEL/3-BP INS, EX16indelPathogenic
16CDH1NM_004360.3(CDH1): c.1565+1G> Asingle nucleotide variantPathogenicGRCh38Chr 16, 68815760: 68815760
17CDH1NM_004360.3(CDH1): c.1003C> T (p.Arg335Ter)single nucleotide variantPathogenicGRCh38Chr 16, 68811854: 68811854
18CDH1NM_004360.3(CDH1): c.2287G> T (p.Glu763Ter)single nucleotide variantPathogenicGRCh38Chr 16, 68828296: 68828296
19CDH1NM_004360.3(CDH1): c.1008G> T (p.Glu336Asp)single nucleotide variantPathogenicrs267606712GRCh37Chr 16, 68845762: 68845762

Expression for genes affiliated with Gastric Cancer Risk After H. Pylori Infection

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Expression patterns in normal tissues for genes affiliated with Gastric Cancer Risk After H. Pylori Infection

Search GEO for disease gene expression data for Gastric Cancer Risk After H. Pylori Infection.

Pathways for genes affiliated with Gastric Cancer Risk After H. Pylori Infection

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Pathways related to Gastric Cancer Risk After H. Pylori Infection according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways59
Immune response IL 1 signaling pathway59
9.3IL1B, IL1RN
29.3IL1B, IL1RN
3
Show member pathways
9.3IL1B, IL1RN
4
Show member pathways
IL-1 Signaling Pathway37
IL1-mediated signaling events37
9.3IL1B, IL1RN

Compounds for genes affiliated with Gastric Cancer Risk After H. Pylori Infection

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Compounds related to Gastric Cancer Risk After H. Pylori Infection according to GeneCards/GeneDecks:

(show top 50)    (show all 61)
idCompoundScoreTop Affiliating Genes
1anakinra44 1210.8IL1RN, IL1B
2toxin-1449.8IL1B, IL1RN
3gold sodium thiomalate449.8IL1B, IL1RN
4lansoprazole44 50 25 1212.8IL1RN, IL1B
5cuprophan449.8IL1B, IL1RN
6polysulfone449.8IL1RN, IL1B
7polymyxin b449.7IL1B, IL1RN
8leflunomide44 50 1211.7IL1B, IL1RN
9lipoteichoic acid449.7IL1B, IL1RN
10sulfasalazine29 44 50 1212.7IL1B, IL1RN
11ns 39844 6010.7IL1RN, IL1B
12alginate449.7IL1RN, IL1B
13etanercept44 50 1211.7IL1B, IL1RN
14il 10449.7IL1RN, IL1B
15l-nmma449.7IL1B, IL1RN
16infliximab44 50 1211.7IL1B, IL1RN
17peptidoglycan44 2910.7IL1B, IL1RN
18ivig449.7IL1RN, IL1B
19pentoxifylline44 1210.7IL1B, IL1RN
20ibuprofen44 29 50 25 1213.7IL1B, IL1RN
21neopterin449.7IL1RN, IL1B
22corticosterone44 60 2511.6IL1RN, IL1B
23leukotriene b444 60 2511.6IL1B, IL1RN
24chi 2449.6CDH1, IL1RN
25p00001449.5IL1RN, CDH1
26hydrocortisone44 3 60 1212.5IL1RN, IL1B
27chloroquine44 3 50 29 1213.4CDH1, IL1RN
28polyethylene glycol449.4CDH1, IL1RN
29latex449.4CDH1, IL1RN
30p003449.4IL1RN, CDH1
31sodium dodecylsulfate449.4IL1RN, CDH1
32celecoxib44 60 29 50 25 1214.4CDH1, IL1B
33p002449.3CDH1, IL1RN
34adenine44 25 1211.2CDH1, MUTYH
35troglitazone44 29 60 1212.1CDH1, IL1B
36formaldehyde44 2510.1CDH1, IL1RN
37carbohydrates449.0CDH1, IL1RN
38mg 13244 6010.0IL1B, CDH1
39tgf beta1449.0CDH1, IL1B, IL1RN
40hyaluronic acid44 2510.0CDH1, IL1B, IL1RN
41aspirin44 50 29 2512.0IL1RN, IL1B, CDH1
42methotrexate50 44 1211.0CDH1, IL1B, IL1RN
43indomethacin44 29 60 1211.9CDH1, IL1B, IL1RN
44sb 20358044 609.9IL1RN, IL1B, CDH1
45histamine44 29 2510.9CDH1, IL1B, IL1RN
46pge2448.9CDH1, IL1B, IL1RN
47dexamethasone44 50 29 1211.8CDH1, IL1B, IL1RN
48vegf448.8IL1RN, IL1B, CDH1
49herbimycin a44 609.7CDH1, IL1B
50retinoic acid44 259.7CDH1, IL1B, IL1RN

GO Terms for genes affiliated with Gastric Cancer Risk After H. Pylori Infection

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Biological processes related to Gastric Cancer Risk After H. Pylori Infection according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1fever generationGO:0016609.3IL1B, IL1RN

Molecular functions related to Gastric Cancer Risk After H. Pylori Infection according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1interleukin-1 receptor bindingGO:0051499.0IL1B, IL1RN
2protein domain specific bindingGO:0199049.0CDH1, IL1B

Products for genes affiliated with Gastric Cancer Risk After H. Pylori Infection

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Sources for Gastric Cancer Risk After H. Pylori Infection

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet