DisGeNET - a database of gene-disease associations

Hereditary Nonpolyposis Colorectal Cancer, C1333990

Variant: rs63750603 ×

Source: CLINVAR ×

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:

rs63750603

MLH1

0.700

CausalMutation

CLINVAR

Classification of mismatch repair gene missense variants with PON-MMR.

22290698

2012

dbSNP:

rs63750603

MLH1

0.700

CausalMutation

CLINVAR

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

21404117

2011

dbSNP:

rs63750603

MLH1

0.700

CausalMutation

CLINVAR

Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.

16341550

2006

dbSNP:

rs63750603

MLH1

0.700

CausalMutation

CLINVAR

Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.

15849733

2005

dbSNP:

rs63750603

MLH1

0.700

CausalMutation

CLINVAR

Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining.

16216036

2005