DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Hereditary Nonpolyposis Colorectal Neoplasms ×

Variant: rs63751221 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs63751221

MLH1

CUI:	C0009405
Disease:	Hereditary Nonpolyposis Colorectal Neoplasms

Hereditary Nonpolyposis Colorectal Neoplasms

0.700

CausalMutation

CLINVAR

Novel splicing associations of hereditary colon cancer related DNA mismatch repair gene mutations.

15235038

2004

dbSNP:

rs63751221

MLH1

CUI:	C0009405
Disease:	Hereditary Nonpolyposis Colorectal Neoplasms

Hereditary Nonpolyposis Colorectal Neoplasms

0.700

CausalMutation

CLINVAR

Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer.

14512394

2003

dbSNP:

rs63751221

MLH1

CUI:	C0009405
Disease:	Hereditary Nonpolyposis Colorectal Neoplasms

Hereditary Nonpolyposis Colorectal Neoplasms

0.700

CausalMutation

CLINVAR

The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer.

11606497

2001

dbSNP:

rs63751221

MLH1

CUI:	C0009405
Disease:	Hereditary Nonpolyposis Colorectal Neoplasms

Hereditary Nonpolyposis Colorectal Neoplasms

0.700

CausalMutation

CLINVAR

Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.

10480359

1999