Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 CausalMutation CLINVAR

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		0.800 CausalMutation CLINVAR

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1321489
Disease: Torre-Muir syndrome
Torre-Muir syndrome 		0.800 CausalMutation CLINVAR

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.700 CausalMutation CLINVAR

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 CausalMutation CLINVAR

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.200 CausalMutation CLINVAR

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.200 GeneticVariation CLINVAR

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.200 CausalMutation CLINVAR

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.200 CausalMutation CLINVAR

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.190 CausalMutation CLINVAR

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms 		0.180 CausalMutation CLINVAR

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.110 GeneticVariation CLINVAR

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0034885
Disease: Rectal Neoplasms
Rectal Neoplasms 		0.100 GeneticVariation CLINVAR

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0153436
Disease: Malignant neoplasm of sigmoid colon
Malignant neoplasm of sigmoid colon 		0.100 CausalMutation CLINVAR

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0153439
Disease: Malignant neoplasm of ascending colon
Malignant neoplasm of ascending colon 		0.100 CausalMutation CLINVAR

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0153567
Disease: Uterine Cancer
Uterine Cancer 		0.100 CausalMutation CLINVAR

Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 GeneticVariation CLINVAR """Null pattern"" of immunoreactivity in a Lynch syndrome-associated colon cancer due to germline MSH2 mutation and somatic MLH1 hypermethylation." 22067334

2011
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 CausalMutation CLINVAR """Second hit"" in sebaceous tumors from Muir-Torre patients with germline mutations in MSH2: allele loss is not the preferred mode of inactivation." 11231323

2001
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 GeneticVariation CLINVAR In Silico Systems Biology Analysis of Variants of Uncertain Significance in Lynch Syndrome Supports the Prioritization of Functional Molecular Validation. 28765196

2017
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 GeneticVariation CLINVAR A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. 15235030

2004
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		1.000 CausalMutation CLINVAR A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. 15235030

2004
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 GeneticVariation CLINVAR A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. 15235030

2004
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.900 CausalMutation CLINVAR A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. 15235030

2004
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C2936783
Disease: Colorectal cancer, hereditary nonpolyposis, type 1
Colorectal cancer, hereditary nonpolyposis, type 1 		0.600 CausalMutation CLINVAR A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. 15235030

2004
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.130 GeneticVariation CLINVAR A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. 15235030

2004