DisGeNET - a database of gene-disease associations

Source: MGD

Disease: 3-Methylglutaconic aciduria type 2 ×

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:	2280
Gene Symbol:	FKBP1A

FKBP1A

CUI:	C0574083
Disease:	3-Methylglutaconic aciduria type 2

3-Methylglutaconic aciduria type 2

0.210

Biomarker

MGD

Cardiac defects and altered ryanodine receptor function in mice lacking FKBP12.

9461216

1998

Entrez Id:	4232
Gene Symbol:	MEST

MEST

CUI:	C0574083
Disease:	3-Methylglutaconic aciduria type 2

3-Methylglutaconic aciduria type 2

0.200

Biomarker

MGD

Expression of Peg1 (Mest) in the developing mouse heart: involvement in trabeculation.

12242721

2002

Entrez Id:	4232
Gene Symbol:	MEST

MEST

CUI:	C0574083
Disease:	3-Methylglutaconic aciduria type 2

3-Methylglutaconic aciduria type 2

0.200

Biomarker

MGD

Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest.

9771709

1998