HDGC
MCID: GST063
MIFTS: 52

Gastric Cancer Risk After H. Pylori Infection (HDGC) malady

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Cancer diseases

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

Aliases & Descriptions for Gastric Cancer Risk After H. Pylori Infection:

Name: Gastric Cancer Risk After H. Pylori Infection 54
Hereditary Diffuse Gastric Cancer 23 50 24 25 56 66 69
Hdgc 23 50 24 25 56 66
Hereditary Diffuse Gastric Adenocarcinoma 50 25 56
Familial Diffuse Gastric Cancer 50 25 56
Fdgc 50 25 56
Gastric Cancer, Familial Diffuse, with or Without Cleft Lip and/or Palate 54 13
Hereditary Diffuse Cancer of Stomach 50 56
Hereditary Diffuse Gastric Carcinoma 24 29
Gastric Cancer, Hereditary Diffuse 54 50
Familial Diffuse Cancer of Stomach 50 56
Gastric Cancer Familial Diffuse and Cleft Lip with or Without Cleft Palate 66
E-Cadherin-Associated Hereditary Gastric Cancer 25
Gastric Cancer, Familial Diffuse 50
Gastric Cancer Familial Diffuse 66
Gastric Cancer, Somatic 54
Breast Cancer, Lobular 66
Lbc 66

Characteristics:

Orphanet epidemiological data:

56
hereditary diffuse gastric cancer
Inheritance: Autosomal dominant; Age of onset: Adult;

GeneReviews:

23
gastric cancer risk after h. pylori infection:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance The penetrance of hdgc is incomplete. penetrance analysis has changed several times over the last 13 years. pharoah et al [2001] estimated the cumulative risk for gastric cancer by age 80 years at 67% for men (95% confidence interval [ci], 39-99 years) and 83% for women (95% ci, 58-99 years). females heterozygous for a cdh1 pathogenic variant had an additional cumulative risk for breast cancer of 39% (95% ci, 12-84 years). the combined risk for gastric and breast cancer in women was 90% by age 80 years...

Classifications:



External Ids:

OMIM 54 137215
Orphanet 56 ORPHA26106
ICD10 via Orphanet 34 C16.9

Summaries for Gastric Cancer Risk After H. Pylori Infection

OMIM : 54 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 hereditary diffuse gastric cancer, is related to gastric cancer, somatic and breast cancer, and has symptoms including cleft palate, cleft upper lip and stomach cancer. An important gene associated with Gastric Cancer Risk After H. Pylori Infection is CDH1 (Cadherin 1), and among its related pathways/superpathways are PAK Pathway and Development HGF signaling pathway. The drugs Amoxicillin and Clarithromycin have been mentioned in the context of this disorder. Affiliated tissues include breast, bone and liver, and related phenotypes are Decreased viability and cardiovascular system

Genetics Home Reference : 25 Hereditary diffuse gastric cancer (HDGC) is an inherited disorder that greatly increases the chance of developing a form of stomach (gastric) cancer. In this form, known as diffuse gastric cancer, there is no solid tumor. Instead cancerous (malignant) cells multiply underneath the stomach lining, making the lining thick and rigid. The invasive nature of this type of cancer makes it highly likely that these cancer cells will spread (metastasize) to other tissues, such as the liver or nearby bones.

NIH Rare Diseases : 50 hereditary diffuse gastric cancer (hdgc) is an inherited condition that is characterized by an increased risk of developing a specific form of stomach cancer called diffuse gastric cancer. women with hdgc also have an increased risk for lobular breast cancer. cancers associated with hdgc generally occur at younger ages than those seen in people who do not have a hereditary predisposition to cancer. hdgc is caused by changes (mutations) in the cdh1 gene and is inherited in an autosomal dominant manner. management typically involves high-risk cancer screening and/or prophylactic surgeries.    last updated: 3/17/2015

UniProtKB/Swiss-Prot : 66 Breast cancer, lobular: A type of breast cancer that begins in the milk-producing glands (lobules) of the breast. Hereditary diffuse gastric cancer: A cancer predisposition syndrome with increased susceptibility to diffuse gastric cancer. Diffuse gastric cancer is a malignant disease characterized by poorly differentiated infiltrating lesions resulting in thickening of the stomach. Malignant tumors start in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body.

GeneReviews: NBK1139

Related Diseases for Gastric Cancer Risk After H. Pylori Infection

Diseases related to Gastric Cancer Risk After H. Pylori Infection via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
id Related Disease Score Top Affiliating Genes
1 gastric cancer, somatic 33.3 CDH1 KRAS
2 breast cancer 11.6
3 diffuse gastric cancer 10.3
4 ileocolitis 10.2 CDH1 IL1B
5 chondrodysplasia punctata, rhizomelic, type 1 10.2 CDH1 IL1B
6 amyotrophic lateral sclerosis type 14 10.2 CDH1 IL1B
7 familial renal oncocytoma 10.2 CDH1 CTNNA1
8 substance abuse 10.2 CDH1 CTNNA1
9 acute eustachian salpingitis 10.2 CDH1 CTNNA1
10 egg allergy 10.1 IL1B IL1RN
11 warthin tumor 10.1 IL1B IL1RN
12 porokeratosis 3, disseminated superficial actinic 10.1 IL1B IL1RN
13 dextrocardia 10.1 IL1B IL1RN
14 mental retardation, autosomal dominant 22 10.1 IL1B IL1RN
15 mental retardation hypotonia skin hyperpigmentation 10.1 IL1B IL1RN
16 senile reticular retinal degeneration 10.1 IL1B IL1RN
17 benign neonatal seizures 10.1 IL1B IL1RN
18 gonococcal endophthalmia 10.1 IL1B IL1RN
19 glossitis 10.1 IL1B IL1RN
20 autosomal recessive type iv ehlers-danlos syndrome 10.1 IL1B IL1RN
21 oral cavity carcinoma in situ 10.1 IL1B IL1RN
22 keratoconus 10.1 IL1B IL1RN
23 nemaline myopathy 8, autosomal recessive 10.1 CDH1 KRAS
24 motility-related diarrhea 10.1 IL1B IL1RN
25 nasal cavity cancer 10.1 IL1B IL1RN
26 testicular leydig cell tumor 10.1 IL1B IL1RN
27 immunoglobulin g deficiency 10.1 IL1B IL1RN
28 ideomotor apraxia 10.1 CDH1 KRAS
29 basophilic carcinoma 10.1 CDH1 KRAS
30 childhood central nervous system mixed germ cell tumor 10.1 IL1B IL1RN
31 skin conditions 10.0 IL1B IL1RN
32 advanced sleep phase syndrome 10.0 CDH1 KRAS
33 cowpox 10.0 IL1B IL1RN
34 multinodular goiter 10.0 IL1RN KRAS
35 dental caries 10.0 CDH1 KRAS
36 diphallia 10.0 CDH1 CTNNA1 IL1B
37 nasal cavity disease 10.0 CDH1 KRAS
38 retinal vascular occlusion 10.0 IL1B IL1RN
39 oral squamous cell carcinoma 10.0 CDH1 KRAS
40 classic type lipoma 9.9 IL1B IL1RN
41 glycogen storage disease 9.9 CDH1 IL1RN KRAS
42 gastric cancer 9.9
43 malakoplakia 9.9
44 paroxysmal nocturnal hemoglobinuria 9.8 CDH1 KRAS
45 hepatocellular carcinoma 9.2 CDH1 CTNNA1 IL1B IL1RN KRAS MAP3K6

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 & Phenotypes for Gastric Cancer Risk After H. Pylori Infection

Symptoms by clinical synopsis from OMIM:

137215

Clinical features from OMIM:

137215

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

32
id Description HPO Frequency HPO Source Accession
1 cleft palate 32 HP:0000175
2 cleft upper lip 32 HP:0000204
3 stomach cancer 32 HP:0012126
4 chronic atrophic gastritis 32 HP:0002582

UMLS symptoms related to Gastric Cancer Risk After H. Pylori Infection:


dyspepsia

GenomeRNAi Phenotypes related to Gastric Cancer Risk After H. Pylori Infection according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.32 KRAS
2 Decreased viability GR00106-A-0 9.32 KRAS
3 Decreased viability GR00221-A-1 9.32 CDH1 KRAS MAP3K6
4 Decreased viability GR00221-A-2 9.32 KRAS MAP3K6
5 Decreased viability GR00301-A 9.32 CDH1 KRAS
6 Decreased viability GR00381-A-1 9.32 KRAS

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.55 CDH1 CTNNA1 IL1B IL1RN KRAS
2 integument MP:0010771 9.43 CDH1 CTNNA1 IL1B IL1RN KRAS MAP3K6
3 neoplasm MP:0002006 9.02 CDH1 CTNNA1 IL1B KRAS MAP3K6

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

Drugs for Gastric Cancer Risk After H. Pylori Infection (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 58)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amoxicillin Approved, Vet_approved Phase 4,Phase 3 26787-78-0 33613 2171
2
Clarithromycin Approved Phase 4,Phase 3 81103-11-9 84029
3
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7 4594 9579578
4
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
5
Ofloxacin Approved Phase 4 82419-36-1 4583
6
Coal tar Approved Phase 4 8007-45-2
7
Metronidazole Approved Phase 4 443-48-1 4173
8
Lansoprazole Approved, Investigational Phase 4,Phase 3 103577-45-3 3883
9
Tetracycline Approved, Vet_approved Phase 4 60-54-8 5353990
10
Furazolidone Approved, Vet_approved Phase 4 67-45-8 3435 5323714
11
Guaifenesin Approved, Vet_approved Phase 4 93-14-1 3516
12
Loperamide Approved Phase 4 53179-11-6 3955
13
Tinidazole Approved, Investigational Phase 4 19387-91-8 5479
14 Anti-Bacterial Agents Phase 4,Phase 3
15 Antibiotics, Antitubercular Phase 4
16 Antacids Phase 4,Phase 3
17 Anti-Infective Agents Phase 4,Phase 3
18 Antiparasitic Agents Phase 4
19 Antiprotozoal Agents Phase 4
20 Anti-Ulcer Agents Phase 4,Phase 3
21 Cytochrome P-450 CYP3A Inhibitors Phase 4,Phase 3
22 Cytochrome P-450 Enzyme Inhibitors Phase 4,Phase 3
23 Gastrointestinal Agents Phase 4,Phase 3
24
Proton pump inhibitors Phase 4,Phase 3
25
Dexlansoprazole Phase 4,Phase 3 138530-94-6, 103577-45-3 9578005
26
Bismuth Phase 4 7440-69-9 16682734 105143
27 Alkylating Agents Phase 4
28 Antidiarrheals Phase 4
29 Anti-Infective Agents, Local Phase 4
30 Antitubercular Agents Phase 4
31 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
32 Cytochrome P-450 CYP1A2 Inhibitors Phase 4
33
Pectin Phase 4 9000-69-5 441476
34 Renal Agents Phase 4
35 Topoisomerase Inhibitors Phase 4
36 Vaccines Phase 3
37
nivolumab Approved Phase 2 946414-94-4
38 Antibodies Phase 2
39 Immunoglobulins Phase 2
40 Antibodies, Monoclonal Phase 2
41
Simvastatin Approved 79902-63-9 54454
42
Iron Approved 7439-89-6 23925
43
Omeprazole Approved, Investigational, Vet_approved 73590-58-6 4594
44 Gastrins
45 Analgesics
46 Analgesics, Non-Narcotic
47 Anti-Inflammatory Agents
48 Anti-Inflammatory Agents, Non-Steroidal
49 Antirheumatic Agents
50 Cyclooxygenase 2 Inhibitors

Interventional clinical trials:

(show all 28)
id Name Status NCT ID Phase
1 Community-based Helicobacter Pylori Eradication Unknown status NCT00155389 Phase 4
2 Comparison of Sequential or Concomitant Therapy for Helicobacter Pylori Infection Completed NCT00656968 Phase 4
3 Multicentric Randomized Study of H. Pylori Eradication and Pepsinogen Testing for Prevention of Gastric Cancer Mortality Recruiting NCT02047994 Phase 4
4 Intraluminal Therapy for Helicobacter Pylori Infection Recruiting NCT03124420 Phase 4
5 Antimicrobial Susceptibility Testing Guided Antibiotic Selection Strategies in Salvage Helicobacter Pylori Treatment Recruiting NCT02988089 Phase 4
6 Antimicrobial Susceptibility Testing Guided Triple Therapy in Salvage Helicobacter Pylori Treatment Not yet recruiting NCT03139253 Phase 4
7 A Phase Ⅲ Clinical Trial With Oral Recombinant Helicobacter Pylori Vaccine in Chinese Children Completed NCT02302170 Phase 3
8 Gastric Cancer Prevention in the Family Members by Helicobacter Pylori Eradication Active, not recruiting NCT01678027 Phase 3
9 Talimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin Cancers Not yet recruiting NCT02978625 Phase 2
10 Gastropanel for Gastric Atrophy and Cancer Risk Assessment Unknown status NCT02114411
11 Chemoprevention of Gastric Cancer by Intervention With Helicobacter Pylori and Cyclooxygenase Pathway Unknown status NCT00498134
12 Role of Statin on the Gastric Inflammation in Patients at High Risk of Gastric Cancer Unknown status NCT01813994
13 The Revolutions of Helicobacter Pylori Infection, Bacterial Density, and Histological Features After Antrectomy Unknown status NCT00441831
14 Effects of Dietary Heme/Non-heme Iron and Helicobacter Pylori (Hp) Infection on Maternal Iron-deficiency Anemia and Fetal Growth Outcomes Unknown status NCT01071759
15 The Efficacy of Serum Pepsinogen for Prediction of Metachronous Gastric Neoplasm Completed NCT02682446
16 Long-term Follow-up Prognosis of Atrophic Gastritis After 3 Years Completed NCT01824953
17 Risk Factors for Gastric Disease in Pediatric Helicobacter Pylori (H. Pylori) Completed NCT00212225
18 New Technology to Differentiate Normal Gastric Mucosa From Helicobacter Pylori Associated Gastritis and Gastric Atrophy Completed NCT02597517
19 Primary Antimicrobial Resistance Patterns of Austrian Helicobacter Pylori Clinical Isolates Completed NCT02925091
20 Linked Color Imaging to Differentiate H. Pylori Associated Gastritis and Gastric Atrophy Completed NCT02724280
21 Endomicroscopy and Gastric MALT-lymphoma Completed NCT01583699
22 Early Onset and Familial Gastric Cancer Registry Recruiting NCT00582257
23 Hereditary Colorectal and Associated Tumor Registry Study Recruiting NCT00633607
24 Reinfection After Eradication of Helicobacter Pylori Infection Recruiting NCT02674802
25 Volatile Markers in Digestive Cancer Recruiting NCT02332213
26 Helicobacter Pylori Eradication to Prevent Gastric Cancer Active, not recruiting NCT01133951
27 Diagnosis of Gastric Precancerous Lesions by a Blood Test GastroPanel in Patients With Increased Gastric Cancer Risk Not yet recruiting NCT02624271
28 Helicobacter Pylori Genome Project Not yet recruiting NCT02788214

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

Genetic Tests for Gastric Cancer Risk After H. Pylori Infection

Genetic tests related to Gastric Cancer Risk After H. Pylori Infection:

id Genetic test Affiliating Genes
1 Hereditary Diffuse Gastric Cancer 29 24 CDH1

Anatomical Context for Gastric Cancer Risk After H. Pylori Infection

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

39
Breast, Bone, Liver, Lymph Node, Small Intestine

Publications for Gastric Cancer Risk After H. Pylori Infection

Variations for Gastric Cancer Risk After H. Pylori Infection

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

66
id Symbol AA change Variation ID SNP ID
1 CDH1 p.Asp244Gly VAR_008712
2 CDH1 p.Val487Ala VAR_008713
3 CDH1 p.Val832Met VAR_023358 rs35572355

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

6 (show all 48)
id Gene Variation Type Significance SNP ID Assembly Location
1 CDH1 CDH1, 1-BP INS, 1711G insertion Pathogenic
2 CDH1 CDH1, 1-BP INS, 1588C insertion Pathogenic
3 CDH1 NM_004360.4(CDH1): c.781G> T (p.Glu261Ter) single nucleotide variant Pathogenic rs121964873 GRCh37 Chromosome 16, 68844193: 68844193
4 CDH1 CDH1, 1-BP INS, 2382C insertion Pathogenic
5 CDH1 NM_004360.4(CDH1): c.2095C> T (p.Gln699Ter) single nucleotide variant Pathogenic rs121964874 GRCh37 Chromosome 16, 68857460: 68857460
6 CDH1 CDH1, IVS1AS, A-G, -2 single nucleotide variant Pathogenic
7 CDH1 NM_004360.4(CDH1): c.59G> A (p.Trp20Ter) single nucleotide variant Pathogenic rs121964875 GRCh37 Chromosome 16, 68772210: 68772210
8 CDH1 NM_004360.4(CDH1): c.70G> T (p.Glu24Ter) single nucleotide variant Pathogenic rs121964876 GRCh37 Chromosome 16, 68772221: 68772221
9 CDH1 NM_004360.4(CDH1): c.1792C> T (p.Arg598Ter) single nucleotide variant Pathogenic rs121964877 GRCh37 Chromosome 16, 68855984: 68855984
10 CDH1 NM_004360.4(CDH1): c.1901C> T (p.Ala634Val) single nucleotide variant Pathogenic/Likely pathogenic rs121964878 GRCh37 Chromosome 16, 68856093: 68856093
11 CDH1 CDH1, IVS4DS, T-A, +2 single nucleotide variant Pathogenic
12 CDH1 CDH1, 1137G-A single nucleotide variant Pathogenic
13 CDH1 CDH1, 1-BP INS, 517A insertion Pathogenic
14 CDH1 nsv513771 deletion Pathogenic
15 CDH1 CDH1, 828-BP DEL/3-BP INS, EX16 indel Pathogenic
16 CDH1 NM_004360.4(CDH1): c.1008G> T (p.Glu336Asp) single nucleotide variant Pathogenic rs267606712 GRCh37 Chromosome 16, 68845762: 68845762
17 CDH1 NM_004360.4(CDH1): c.1565+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587780113 GRCh38 Chromosome 16, 68815760: 68815760
18 CDH1 NM_004360.4(CDH1): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs587780784 GRCh38 Chromosome 16, 68811854: 68811854
19 CDH1 NM_004360.4(CDH1): c.2287G> T (p.Glu763Ter) single nucleotide variant Pathogenic rs587780787 GRCh38 Chromosome 16, 68828296: 68828296
20 CDH1 NM_004360.4(CDH1): c.2064_2065delTG (p.Cys688Terfs) deletion Pathogenic rs587781276 GRCh37 Chromosome 16, 68857429: 68857430
21 CDH1 NM_004360.4(CDH1): c.1023T> G (p.Tyr341Ter) single nucleotide variant Pathogenic rs587776398 GRCh38 Chromosome 16, 68812149: 68812149
22 CDH1 NM_004360.4(CDH1): c.187C> T (p.Arg63Ter) single nucleotide variant Pathogenic rs587783047 GRCh38 Chromosome 16, 68801693: 68801693
23 CDH1 NM_004360.4(CDH1): c.2398delC (p.Arg800Alafs) deletion Pathogenic rs587783048 GRCh38 Chromosome 16, 68829756: 68829756
24 CDH1 NM_004360.4(CDH1): c.1137G> A (p.Thr379=) single nucleotide variant Pathogenic/Likely pathogenic rs587783050 GRCh38 Chromosome 16, 68812263: 68812263
25 CDH1 NM_004360.4(CDH1): c.2430delT (p.Phe810Leufs) deletion Pathogenic/Likely pathogenic rs786203752 GRCh37 Chromosome 16, 68863691: 68863691
26 CDH1 NM_004360.4(CDH1): c.388-?_*2042+?del deletion Pathogenic GRCh38 Chromosome 16, 68808424: 68835541
27 CDH1 NM_004360.4(CDH1): c.504delA (p.Gly169Alafs) deletion Pathogenic rs864622655 GRCh37 Chromosome 16, 68842443: 68842443
28 CDH1 NM_004360.4(CDH1): c.1064delT (p.Leu355Terfs) deletion Pathogenic rs863224505 GRCh37 Chromosome 16, 68846093: 68846093
29 CDH1 NM_004360.4(CDH1): c.1220delC deletion Pathogenic rs886037822 GRCh38 Chromosome 16, 68813395: 68813395
30 CDH1 NM_004360.4(CDH1): c.1137+1G> A single nucleotide variant Pathogenic rs876660771 GRCh37 Chromosome 16, 68846167: 68846167
31 CDH1 NM_004360.4(CDH1): c.3G> A (p.Met1Ile) single nucleotide variant Likely pathogenic rs878854691 GRCh37 Chromosome 16, 68771321: 68771321
32 CDH1 NM_004360.4(CDH1): c.220C> T (p.Arg74Ter) single nucleotide variant Pathogenic rs876658932 GRCh38 Chromosome 16, 68801726: 68801726
33 CDH1 NM_004360.4(CDH1): c.360dupG (p.His121Alafs) duplication Pathogenic rs878854690 GRCh37 Chromosome 16, 68835769: 68835769
34 CDH1 NM_004360.4(CDH1): c.832+1G> T single nucleotide variant Likely pathogenic rs878854697 GRCh38 Chromosome 16, 68810342: 68810342
35 CDH1 NM_004360.4(CDH1): c.2296-1G> A single nucleotide variant Likely pathogenic rs1057517542 GRCh38 Chromosome 16, 68829653: 68829653
36 CDH1 NC_000016.10: g.(?_68737292)_(68835541_?)del deletion Pathogenic GRCh37 Chromosome 16, 68771195: 68869444
37 CDH1 NC_000016.10: g.(?_68801670)_(68801893_?)del deletion Pathogenic GRCh38 Chromosome 16, 68801670: 68801893
38 CDH1 NM_004360.4(CDH1): c.377delC (p.Pro126Argfs) deletion Pathogenic rs1060501215 GRCh38 Chromosome 16, 68801883: 68801883
39 CDH1 NM_004360.4(CDH1): c.696_697delTC (p.His233Argfs) deletion Pathogenic rs1060501214 GRCh38 Chromosome 16, 68810205: 68810206
40 CDH1 NM_004360.4(CDH1): c.1565+1G> C single nucleotide variant Pathogenic rs587780113 GRCh38 Chromosome 16, 68815760: 68815760
41 CDH1 NM_004360.4(CDH1): c.1565+2dupT duplication Likely pathogenic GRCh37 Chromosome 16, 68849664: 68849664
42 CDH1 NC_000016.10: g.(?_68737292)_(68738411_?)del deletion Pathogenic GRCh38 Chromosome 16, 68737292: 68738411
43 CDH1 NM_004360.4(CDH1): c.532-1G> C single nucleotide variant Likely pathogenic rs771085839 GRCh38 Chromosome 16, 68808692: 68808692
44 CDH1 NM_004360.4(CDH1): c.793G> T (p.Glu265Ter) single nucleotide variant Pathogenic rs876659503 GRCh38 Chromosome 16, 68810302: 68810302
45 CDH1 NM_004360.4(CDH1): c.49-2A> G single nucleotide variant Pathogenic rs1060501226 GRCh38 Chromosome 16, 68738295: 68738295
46 CDH1 NM_004360.4(CDH1): c.1008+2T> C single nucleotide variant Likely pathogenic rs1060501237 GRCh37 Chromosome 16, 68845764: 68845764
47 CDH1 NM_004360.4(CDH1): c.1895_1896delAC (p.His632Argfs) deletion Pathogenic rs1060501224 GRCh38 Chromosome 16, 68822184: 68822185
48 CDH1 NM_004360.4(CDH1): c.2324delG (p.Gly775Alafs) deletion Pathogenic rs1060501248 GRCh38 Chromosome 16, 68829682: 68829682

Cosmic variations for Gastric Cancer Risk After H. Pylori Infection:

9 (show top 50) (show all 1472)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM5576102 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.443G>A p.C148Y 9
2 COSM5576231 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.3434T>G p.V1145G 9
3 COSM5575704 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.2285G>A p.R762H 9
4 COSM5575790 ZNF521 stomach,NS,carcinoma,adenocarcinoma c.1159G>A p.A387T 9
5 COSM5576098 ZNF384 stomach,NS,carcinoma,adenocarcinoma c.1136G>A p.R379Q 9
6 COSM5576197 XPO1 stomach,NS,carcinoma,adenocarcinoma c.479G>A p.S160N 9
7 COSM926359 WT1 stomach,NS,carcinoma,adenocarcinoma c.1298G>A p.R433H 9
8 COSM20570 WEE2 stomach,NS,carcinoma,adenocarcinoma c.996C>G p.N332K 9
9 COSM5575712 UBR5 stomach,NS,carcinoma,adenocarcinoma c.5261G>A p.R1754Q 9
10 COSM1094394 UBR5 stomach,NS,carcinoma,adenocarcinoma c.5561G>A p.R1854H 9
11 COSM5575753 TSC2 stomach,NS,carcinoma,adenocarcinoma c.2357G>A p.R786H 9
12 COSM5576247 TSC2 stomach,NS,carcinoma,adenocarcinoma c.2803G>T p.A935S 9
13 COSM5576069 TSC1 stomach,NS,carcinoma,adenocarcinoma c.2143C>T p.R715W 9
14 COSM20551 TRRAP stomach,NS,carcinoma,adenocarcinoma c.5117G>A p.R1706H 9
15 COSM20550 TRRAP stomach,NS,carcinoma,adenocarcinoma c.477A>G p.K159K 9
16 COSM2866680 TRRAP stomach,NS,carcinoma,adenocarcinoma c.5956C>T p.R1986W 9
17 COSM5575878 TRRAP stomach,NS,carcinoma,adenocarcinoma c.10447G>A p.A3483T 9
18 COSM5576201 TRRAP stomach,NS,carcinoma,adenocarcinoma c.2075A>G p.Y692C 9
19 COSM5575742 TRRAP stomach,NS,carcinoma,adenocarcinoma c.622G>A p.E208K 9
20 COSM5576203 TRRAP stomach,NS,carcinoma,adenocarcinoma c.8165C>T p.P2722L 9
21 COSM20561 TRPM7 stomach,NS,carcinoma,adenocarcinoma c.2488A>G p.M830V 9
22 COSM5575609 TRIM33 stomach,NS,carcinoma,adenocarcinoma c.1231C>T p.H411Y 9
23 COSM5575966 TRIM33 stomach,NS,carcinoma,adenocarcinoma c.817C>A p.P273T 9
24 COSM5576261 TRIM24 stomach,NS,carcinoma,adenocarcinoma c.3013C>T p.R1005C 9
25 COSM5576173 TRIM24 stomach,NS,carcinoma,adenocarcinoma c.706G>C p.E236Q 9
26 COSM5576172 TRIM24 stomach,NS,carcinoma,adenocarcinoma c.706G>C p.E236Q 9
27 COSM5576260 TRIM24 stomach,NS,carcinoma,adenocarcinoma c.3115C>T p.R1039C 9
28 COSM5575610 TPR stomach,NS,carcinoma,adenocarcinoma c.3721A>G p.S1241G 9
29 COSM44091 TP53 stomach,NS,carcinoma,adenocarcinoma c.746G>A p.R249K 9
30 COSM44151 TP53 stomach,NS,carcinoma,adenocarcinoma c.535C>A p.H179N 9
31 COSM10648 TP53 stomach,NS,carcinoma,adenocarcinoma c.524G>A p.R175H 9
32 COSM10704 TP53 stomach,NS,carcinoma,adenocarcinoma c.844C>T p.R282W 9
33 COSM10656 TP53 stomach,NS,carcinoma,adenocarcinoma c.742C>T p.R248W 9
34 COSM10705 TP53 stomach,NS,carcinoma,adenocarcinoma c.586C>T p.R196* 9
35 COSM10663 TP53 stomach,NS,carcinoma,adenocarcinoma c.916C>T p.R306* 9
36 COSM43826 TP53 stomach,NS,carcinoma,adenocarcinoma c.706T>A p.Y236N 9
37 COSM11089 TP53 stomach,NS,carcinoma,adenocarcinoma c.584T>C p.I195T 9
38 COSM10709 TP53 stomach,NS,carcinoma,adenocarcinoma c.722C>G p.S241C 9
39 COSM45620 TP53 stomach,NS,carcinoma,adenocarcinoma c.704A>C p.N235T 9
40 COSM10735 TP53 stomach,NS,carcinoma,adenocarcinoma c.638G>A p.R213Q 9
41 COSM10941 TP53 stomach,NS,carcinoma,adenocarcinoma c.730G>A p.G244S 9
42 COSM10690 TP53 stomach,NS,carcinoma,adenocarcinoma c.473G>A p.R158H 9
43 COSM11307 TP53 stomach,NS,carcinoma,adenocarcinoma c.643A>T p.S215C 9
44 COSM10883 TP53 stomach,NS,carcinoma,adenocarcinoma c.731G>A p.G244D 9
45 COSM44969 TP53 stomach,NS,carcinoma,adenocarcinoma c.424C>G p.P142A 9
46 COSM10645 TP53 stomach,NS,carcinoma,adenocarcinoma c.527G>T p.C176F 9
47 COSM44262 TP53 stomach,NS,carcinoma,adenocarcinoma c.808T>C p.F270L 9
48 COSM43559 TP53 stomach,NS,carcinoma,adenocarcinoma c.517G>T p.V173L 9
49 COSM44125 TP53 stomach,NS,carcinoma,adenocarcinoma c.486C>G p.I162M 9
50 COSM10992 TP53 stomach,NS,carcinoma,adenocarcinoma c.844C>G p.R282G 9

Copy number variations for Gastric Cancer Risk After H. Pylori Infection from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 133641 19 67328695 67426945 Deletion CDH1 hereditary diffuse gastric cancer

Expression for Gastric Cancer Risk After H. Pylori Infection

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

Pathways for Gastric Cancer Risk After H. Pylori Infection

Pathways related to Gastric Cancer Risk After H. Pylori Infection according to GeneCards Suite gene sharing:

(show all 21)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.9 CDH1 CTNNA1 IL1B KRAS
2
Show member pathways
12.47 CDH1 CTNNA1 KRAS
3 12.36 IL1B KRAS MAP3K6
4 12.32 CDH1 CTNNA1 KRAS
5
Show member pathways
12.3 IL1B KRAS MAP3K6
6
Show member pathways
12.06 IL1B IL1RN KRAS
7 11.98 CDH1 CTNNA1 MAP3K6
8
Show member pathways
11.79 CDH1 CTNNA1 KRAS
9 11.47 CDH1 CTNNA1
10 11.46 CDH1 IL1B
11 11.44 CDH1 KRAS
12 11.42 CDH1 CTNNA1
13 11.2 IL1B IL1RN
14 11.14 CDH1 CTNNA1
15 11.08 CDH1 CTNNA1
16 11.06 CDH1 CTNNA1
17 10.89 CDH1 CTNNA1
18 10.78 CDH1 KRAS
19 10.55 CDH1 CTNNA1
20 10.23 CDH1 CTNNA1
21 9.74 CDH1 CTNNA1

GO Terms for Gastric Cancer Risk After H. Pylori Infection

Cellular components related to Gastric Cancer Risk After H. Pylori Infection according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell-cell adherens junction GO:0005913 9.16 CDH1 CTNNA1
2 catenin complex GO:0016342 8.96 CDH1 CTNNA1
3 flotillin complex GO:0016600 8.62 CDH1 CTNNA1

Biological processes related to Gastric Cancer Risk After H. Pylori Infection according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 response to glucocorticoid GO:0051384 9.26 IL1RN KRAS
2 adherens junction organization GO:0034332 9.16 CDH1 CTNNA1
3 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 8.96 CTNNA1 IL1B
4 cellular response to indole-3-methanol GO:0071681 8.62 CDH1 CTNNA1

Molecular functions related to Gastric Cancer Risk After H. Pylori Infection according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 beta-catenin binding GO:0008013 9.16 CDH1 CTNNA1
2 interleukin-1 receptor binding GO:0005149 8.96 IL1B IL1RN
3 gamma-catenin binding GO:0045295 8.62 CDH1 CTNNA1

Sources for Gastric Cancer Risk After H. Pylori Infection

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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