DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY ×

Gene: NDUFAF1 ×

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:	51103
Gene Symbol:	NDUFAF1

NDUFAF1

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:	51103
Gene Symbol:	NDUFAF1

NDUFAF1

CUI:	C1838979
Disease:	MITOCHONDRIAL COMPLEX I DEFICIENCY

MITOCHONDRIAL COMPLEX I DEFICIENCY

0.500

GermlineCausalMutation

ORPHANET

Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease.

17557076

2007

Entrez Id:	51103
Gene Symbol:	NDUFAF1

NDUFAF1

CUI:	C1838979
Disease:	MITOCHONDRIAL COMPLEX I DEFICIENCY

MITOCHONDRIAL COMPLEX I DEFICIENCY

0.500

Biomarker

GENOMICS_ENGLAND