DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Hereditary Nonpolyposis Colorectal Neoplasms ×

Variant: rs63751608 ×

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:

rs63751608

MLH1

CUI:	C0009405
Disease:	Hereditary Nonpolyposis Colorectal Neoplasms

Hereditary Nonpolyposis Colorectal Neoplasms

0.700

CausalMutation

CLINVAR

Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.

23403630

2013

dbSNP:

rs63751608

MLH1

CUI:	C0009405
Disease:	Hereditary Nonpolyposis Colorectal Neoplasms

Hereditary Nonpolyposis Colorectal Neoplasms

0.700

CausalMutation

CLINVAR

Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.

21404117

2011

dbSNP:

rs63751608

MLH1

CUI:	C0009405
Disease:	Hereditary Nonpolyposis Colorectal Neoplasms

Hereditary Nonpolyposis Colorectal Neoplasms

0.700

CausalMutation

CLINVAR

Analysis of hMLH1 missense mutations in East Asian patients with suspected hereditary nonpolyposis colorectal cancer.

18094436

2007

dbSNP:

rs63751608

MLH1

CUI:	C0009405
Disease:	Hereditary Nonpolyposis Colorectal Neoplasms

Hereditary Nonpolyposis Colorectal Neoplasms

0.700

CausalMutation

CLINVAR

Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.

17510385

2007

dbSNP:

rs63751608

MLH1

CUI:	C0009405
Disease:	Hereditary Nonpolyposis Colorectal Neoplasms

Hereditary Nonpolyposis Colorectal Neoplasms

0.700

CausalMutation

CLINVAR

hMRE11 deficiency leads to microsatellite instability and defective DNA mismatch repair.

15864295

2005

dbSNP:

rs63751608

MLH1

CUI:	C0009405
Disease:	Hereditary Nonpolyposis Colorectal Neoplasms

Hereditary Nonpolyposis Colorectal Neoplasms

0.700

CausalMutation

CLINVAR

Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.

15365995

2004

dbSNP:

rs63751608

MLH1

CUI:	C0009405
Disease:	Hereditary Nonpolyposis Colorectal Neoplasms

Hereditary Nonpolyposis Colorectal Neoplasms

0.700

CausalMutation

CLINVAR

A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations.

12810663

2003

dbSNP:

rs63751608

MLH1

CUI:	C0009405
Disease:	Hereditary Nonpolyposis Colorectal Neoplasms

Hereditary Nonpolyposis Colorectal Neoplasms

0.700

CausalMutation

CLINVAR

The interaction of DNA mismatch repair proteins with human exonuclease I.

11427529

2001

dbSNP:

rs63751608

MLH1

CUI:	C0009405
Disease:	Hereditary Nonpolyposis Colorectal Neoplasms

Hereditary Nonpolyposis Colorectal Neoplasms

0.700

CausalMutation

CLINVAR

The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer.

10037723

1999

dbSNP:

rs63751608

MLH1

CUI:	C0009405
Disease:	Hereditary Nonpolyposis Colorectal Neoplasms

Hereditary Nonpolyposis Colorectal Neoplasms

0.700

CausalMutation

CLINVAR

Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae.

9697702

1998

dbSNP:

rs63751608

MLH1

CUI:	C0009405
Disease:	Hereditary Nonpolyposis Colorectal Neoplasms

Hereditary Nonpolyposis Colorectal Neoplasms

0.700

CausalMutation

CLINVAR

Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC)

7757073

1995