DisGeNET - a database of gene-disease associations

Source: BEFREE ×

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Hereditary Nonpolyposis Colorectal Cancer

CUI:	C1333990
Disease:	Hereditary Nonpolyposis Colorectal Cancer

0.710

GeneticVariation

BEFREE

We report here novel HNPCC-hMLH1 mutant proteins (T117M, Q426X and 1813insA) in Danish HNPCC patients.

2001