DisGeNET - a database of gene-disease associations

Source: UNIPROT

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:	C4748785
Disease:	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16

0.600

GeneticVariation

UNIPROT

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

21607760

2012

Entrez Id:	79133
Gene Symbol:	NDUFAF5

NDUFAF5

CUI:	C4748785
Disease:	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16

0.600

GeneticVariation

UNIPROT

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.

19542079

2010

Entrez Id:	79133
Gene Symbol:	NDUFAF5

NDUFAF5

CUI:	C4748785
Disease:	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16

0.600

GeneticVariation

UNIPROT

Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.

18940309

2008