DisGeNET - a database of gene-disease associations

rs4986984, MLH1

N. diseases: 5

Disease: Malignant Neoplasms ×

Source: ALL

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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

Malignant Neoplasms

CUI:	C0006826
Disease:	Malignant Neoplasms

0.010

GeneticVariation

BEFREE

The mutations of MLH1 V384D (15.7%), R217C (4.1%), and I219V (5.2%) were common in this cancer.

2016