DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Neoplastic Syndromes, Hereditary ×

Gene: MSH2 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	4436
Gene Symbol:	MSH2

MSH2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.130

GeneticVariation

CLINVAR

Misdiagnosis of the Zollinger-Ellison syndrome due to hyperlipidemia.

2210261

1990

Entrez Id:	4436
Gene Symbol:	MSH2

MSH2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.130

CausalMutation

CLINVAR

Genetic instability occurs in the majority of young patients with colorectal cancer.

7585065

1995

Entrez Id:	4436
Gene Symbol:	MSH2

MSH2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.130

CausalMutation

CLINVAR

Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations.

7713503

1994

Entrez Id:	4436
Gene Symbol:	MSH2

MSH2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.130

CausalMutation

CLINVAR

Direct mutational analysis in a family with hereditary non-polyposis colorectal cancer.

7717919

1994

Entrez Id:	4436
Gene Symbol:	MSH2

MSH2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.130

GeneticVariation

CLINVAR

Direct mutational analysis in a family with hereditary non-polyposis colorectal cancer.

7717919

1994

Entrez Id:	4436
Gene Symbol:	MSH2

MSH2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.130

CausalMutation

CLINVAR

Seven new mutations in hMSH2, an HNPCC gene, identified by denaturing gradient-gel electrophoresis.

7726159

1995

Entrez Id:	4436
Gene Symbol:	MSH2

MSH2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.130

CausalMutation

CLINVAR

Mutational analysis of the hMSH2 gene reveals a three base pair deletion in a family predisposed to colorectal cancer development.

7874129

1994

Entrez Id:	4436
Gene Symbol:	MSH2

MSH2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.130

GeneticVariation

CLINVAR

Genetic instability in human ovarian cancer cell lines.

7937795

1994

Entrez Id:	4436
Gene Symbol:	MSH2

MSH2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.130

GeneticVariation

CLINVAR

hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds.

8062247

1994

Entrez Id:	4436
Gene Symbol:	MSH2

MSH2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.130

CausalMutation

CLINVAR

hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds.

8062247

1994

Entrez Id:	4436
Gene Symbol:	MSH2

MSH2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.130

GeneticVariation

CLINVAR

Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer.

8261515

1993

Entrez Id:	4436
Gene Symbol:	MSH2

MSH2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.130

CausalMutation

CLINVAR

Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer.

8261515

1993

Entrez Id:	4436
Gene Symbol:	MSH2

MSH2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.130

CausalMutation

CLINVAR

Microsatellite instability, mismatch repair deficiency, and genetic defects in human cancer cell lines.

8521394

1995

Entrez Id:	4436
Gene Symbol:	MSH2

MSH2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.130

GeneticVariation

CLINVAR

Microsatellite instability, mismatch repair deficiency, and genetic defects in human cancer cell lines.

8521394

1995

Entrez Id:	4436
Gene Symbol:	MSH2

MSH2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.130

CausalMutation

CLINVAR

CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations.

8566964

1996

Entrez Id:	4436
Gene Symbol:	MSH2

MSH2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.130

CausalMutation

CLINVAR

Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients.

8574961

1996

Entrez Id:	4436
Gene Symbol:	MSH2

MSH2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.130

CausalMutation

CLINVAR

Germ line mutations of hMSH2 and hMLH1 genes in Japanese families with hereditary nonpolyposis colorectal cancer (HNPCC): usefulness of DNA analysis for screening and diagnosis of HNPCC patients.

8581513

1995

Entrez Id:	4436
Gene Symbol:	MSH2

MSH2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.130

CausalMutation

CLINVAR

Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes.

8592341

1995

Entrez Id:	4436
Gene Symbol:	MSH2

MSH2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.130

CausalMutation

CLINVAR

Mutation of the hMSH2 gene in two families with hereditary nonpolyposis colorectal cancer.

8723682

1996

Entrez Id:	4436
Gene Symbol:	MSH2

MSH2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.130

CausalMutation

CLINVAR

RNA-based mutation screening in hereditary nonpolyposis colorectal cancer.

8808596

1996

Entrez Id:	4436
Gene Symbol:	MSH2

MSH2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.130

CausalMutation

CLINVAR

Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer.

8872463

1996

Entrez Id:	4436
Gene Symbol:	MSH2

MSH2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.130

CausalMutation

CLINVAR

Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene?

8931714

1996

Entrez Id:	4436
Gene Symbol:	MSH2

MSH2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.130

CausalMutation

CLINVAR

Cancer risk associated with germline DNA mismatch repair gene mutations.

9002677

1997

Entrez Id:	4436
Gene Symbol:	MSH2

MSH2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.130

CausalMutation

CLINVAR

Low frequency of hMSH2 mutations in Swedish HNPCC families.

9036882

1997

Entrez Id:	4436
Gene Symbol:	MSH2

MSH2

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.130

CausalMutation

CLINVAR

Mapping the minimal domain of hMSH-2 sufficient for binding mismatched oligonucleotides.

9125109

1997