DisGeNET - a database of gene-disease associations

Hereditary Nonpolyposis Colorectal Neoplasms, C0009405

Variant: rs1230083633 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1230083633

MSH2

0.700

CausalMutation

CLINVAR

Functional analysis of HNPCC-related missense mutations in MSH2.

18822302

2008

dbSNP:

rs1230083633

MSH2

0.700

CausalMutation

CLINVAR

Structure of the human MutSalpha DNA lesion recognition complex.

17531815

2007

dbSNP:

rs1230083633

MSH2

0.700

CausalMutation

CLINVAR

Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer.

9774676

1998