DisGeNET - a database of gene-disease associations

NDUFAF1, NADH:ubiquinone oxidoreductase complex assembly factor 1, 51103

N. diseases: 55; N. variants: 4

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs387906956

Entrez Id:	51103
Gene Symbol:	NDUFAF1

NDUFAF1

CUI:	C4748769
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11

0.800

GeneticVariation

UNIPROT

Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy.

21931170

2011

dbSNP:

rs387906957

Entrez Id:	51103
Gene Symbol:	NDUFAF1

NDUFAF1

CUI:	C4748769
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11

0.800

GeneticVariation

UNIPROT

Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy.

21931170

2011

dbSNP:

rs387906958

Entrez Id:	51103
Gene Symbol:	NDUFAF1

NDUFAF1

CUI:	C4748769
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11

0.800

GeneticVariation

UNIPROT

Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy.

21931170

2011

dbSNP:

rs387906956

Entrez Id:	51103
Gene Symbol:	NDUFAF1

NDUFAF1

CUI:	C4748769
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11

0.800

GeneticVariation

UNIPROT

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

17557076

2007

dbSNP:

rs387906957

Entrez Id:	51103
Gene Symbol:	NDUFAF1

NDUFAF1

CUI:	C4748769
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11

0.800

GeneticVariation

UNIPROT

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

17557076

2007

dbSNP:

rs387906958

Entrez Id:	51103
Gene Symbol:	NDUFAF1

NDUFAF1

CUI:	C4748769
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11

0.800

GeneticVariation

UNIPROT

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

17557076

2007

dbSNP:

rs376344575

Entrez Id:	51103
Gene Symbol:	NDUFAF1

NDUFAF1

CUI:	C4748769
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11

0.800

GeneticVariation

UNIPROT

dbSNP:

rs376344575

Entrez Id:	51103
Gene Symbol:	NDUFAF1

NDUFAF1

CUI:	C4748769
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11

0.800

CausalMutation

CLINVAR

dbSNP:

rs387906956

Entrez Id:	51103
Gene Symbol:	NDUFAF1

NDUFAF1

CUI:	C4748769
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11

0.800

CausalMutation

CLINVAR

dbSNP:

rs387906957

Entrez Id:	51103
Gene Symbol:	NDUFAF1

NDUFAF1

CUI:	C4748769
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11

0.800

CausalMutation

CLINVAR

dbSNP:

rs387906958

Entrez Id:	51103
Gene Symbol:	NDUFAF1

NDUFAF1

CUI:	C4748769
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11

0.800

CausalMutation

CLINVAR

dbSNP:

rs376344575

Entrez Id:	51103
Gene Symbol:	NDUFAF1

NDUFAF1

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.010

GeneticVariation

BEFREE

Sequence analysis of NDUFAF1 revealed compound heterozygous missense mutations (c.631C>T;p.Arg211Cys and c.733G>A;p.Gly245Arg) in one patient with fatal infantile HCM.

21931170

2011

dbSNP:

rs387906958

Entrez Id:	51103
Gene Symbol:	NDUFAF1

NDUFAF1

CUI:	C0007194
Disease:

Hypertrophic Cardiomyopathy

0.010

GeneticVariation

BEFREE

Sequence analysis of NDUFAF1 revealed compound heterozygous missense mutations (c.631C>T;p.Arg211Cys and c.733G>A;p.Gly245Arg) in one patient with fatal infantile HCM.

21931170

2011