DisGeNET - a database of gene-disease associations

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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:	C4017062
Disease:	HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY

HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY

0.400

Biomarker

GENOMICS_ENGLAND

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

2016