DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY ×

Gene: NDUFAF4 ×

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:	29078
Gene Symbol:	NDUFAF4

NDUFAF4

CUI:	C1838979
Disease:	MITOCHONDRIAL COMPLEX I DEFICIENCY

MITOCHONDRIAL COMPLEX I DEFICIENCY

0.500

Biomarker

GENOMICS_ENGLAND

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

27604308

2016

Entrez Id:	29078
Gene Symbol:	NDUFAF4

NDUFAF4

CUI:	C1838979
Disease:	MITOCHONDRIAL COMPLEX I DEFICIENCY

MITOCHONDRIAL COMPLEX I DEFICIENCY

0.500

GermlineCausalMutation

ORPHANET

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

22644603

2012

Entrez Id:	29078
Gene Symbol:	NDUFAF4

NDUFAF4

CUI:	C1838979
Disease:	MITOCHONDRIAL COMPLEX I DEFICIENCY

MITOCHONDRIAL COMPLEX I DEFICIENCY

0.500

GermlineCausalMutation

ORPHANET

C6ORF66 is an assembly factor of mitochondrial complex I.

18179882

2008

Entrez Id:	29078
Gene Symbol:	NDUFAF4

NDUFAF4

CUI:	C1838979
Disease:	MITOCHONDRIAL COMPLEX I DEFICIENCY

MITOCHONDRIAL COMPLEX I DEFICIENCY

0.500

Biomarker

GENOMICS_ENGLAND