DisGeNET - a database of gene-disease associations

SDHAF1, succinate dehydrogenase complex assembly factor 1, 644096

N. diseases: 88; N. variants: 2

Disease: Mitochondrial Complex II Deficiency ×

Variant: rs137853193 ×

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:

rs137853193

Entrez Id:	644096
Gene Symbol:	SDHAF1

SDHAF1

CUI:	C1855008
Disease:

Mitochondrial Complex II Deficiency

0.800

GeneticVariation

UNIPROT

Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB.

26749241

2016

dbSNP:

rs137853193

Entrez Id:	644096
Gene Symbol:	SDHAF1

SDHAF1

CUI:	C1855008
Disease:

Mitochondrial Complex II Deficiency

0.800

GeneticVariation

UNIPROT

Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.

22995659

2012

dbSNP:

rs137853193

Entrez Id:	644096
Gene Symbol:	SDHAF1

SDHAF1

CUI:	C1855008
Disease:

Mitochondrial Complex II Deficiency

0.800

GeneticVariation

UNIPROT

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.

19465911

2009

dbSNP:

rs137853193

Entrez Id:	644096
Gene Symbol:	SDHAF1

SDHAF1

CUI:	C1855008
Disease:

Mitochondrial Complex II Deficiency

0.800

CausalMutation

CLINVAR