DisGeNET - a database of gene-disease associations

Source: LHGDN

Disease: Congenital Heart Defects ×

Gene: MTHFR ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	4524
Gene Symbol:	MTHFR

MTHFR

CUI:	C0018798
Disease:	Congenital Heart Defects

Congenital Heart Defects

0.400

GeneticVariation

LHGDN

Two MTHFR polymorphisms, maternal B-vitamin intake, and CHDs.

2008