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:	92609
Gene Symbol:	TIMM50

TIMM50

CUI:	C4540171
Disease:	3-METHYLGLUTACONIC ACIDURIA, TYPE IX

3-METHYLGLUTACONIC ACIDURIA, TYPE IX

0.700

GeneticVariation

UNIPROT

Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.

2017