DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY ×

Gene: NDUFAF5 ×

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:	79133
Gene Symbol:	NDUFAF5

NDUFAF5

CUI:	C1838979
Disease:	MITOCHONDRIAL COMPLEX I DEFICIENCY

MITOCHONDRIAL COMPLEX I DEFICIENCY

0.600

GeneticVariation

CLINVAR

Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7.

2012