DisGeNET - a database of gene-disease associations

NDUFS3, NADH:ubiquinone oxidoreductase core subunit S3, 4722

N. diseases: 120; N. variants: 9

Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 ×

Variant: rs28939714 ×

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:

rs28939714

Entrez Id:	4722
Gene Symbol:	NDUFS3

NDUFS3

CUI:	C4748766
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8

0.800

GeneticVariation

UNIPROT

A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome.

30140060

2018

dbSNP:

rs28939714

Entrez Id:	4722
Gene Symbol:	NDUFS3

NDUFS3

CUI:	C4748766
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8

0.800

GeneticVariation

UNIPROT

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.

22499348

2012

dbSNP:

rs28939714

Entrez Id:	4722
Gene Symbol:	NDUFS3

NDUFS3

CUI:	C4748766
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8

0.800

GeneticVariation

UNIPROT

Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.

14729820

2004

dbSNP:

rs28939714

Entrez Id:	4722
Gene Symbol:	NDUFS3

NDUFS3

CUI:	C4748766
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8

0.800

GeneticVariation

CLINVAR

Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.

14729820

2004

dbSNP:

rs28939714

Entrez Id:	4722
Gene Symbol:	NDUFS3

NDUFS3

CUI:	C4748766
Disease:

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8

0.800

CausalMutation

CLINVAR