DisGeNET - a database of gene-disease associations

SUCLA2, succinate-CoA ligase ADP-forming subunit beta, 8803

N. diseases: 136; N. variants: 8

Disease: Dystonia ×

Source: ALL

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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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0013421
Disease:	Dystonia

Dystonia

0.420

Biomarker

phenotype

BEFREE

Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.

19666145

2009

CUI:	C0013421
Disease:	Dystonia

Dystonia

0.420

GeneticVariation

phenotype

BEFREE

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

17301081

2007

CUI:	C0013421
Disease:	Dystonia

Dystonia

0.420

Biomarker

phenotype

HPO

CUI:	C0013421
Disease:	Dystonia

Dystonia

0.420

Biomarker

phenotype

GENOMICS_ENGLAND

CUI:	C0013421
Disease:	Dystonia

Dystonia

0.420

Biomarker

phenotype

GENOMICS_ENGLAND

CUI:	C0013421
Disease:	Dystonia

Dystonia

0.420

Biomarker

phenotype

GENOMICS_ENGLAND