DisGeNET - a database of gene-disease associations

PDHX, pyruvate dehydrogenase complex component X, 8050

N. diseases: 93; N. variants: 9

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

0.400

Biomarker

phenotype

GENOMICS_ENGLAND

Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.

2015

CUI:	C0013421
Disease:	Dystonia

Dystonia

0.400

Biomarker

phenotype

GENOMICS_ENGLAND

CUI:	C0013421
Disease:	Dystonia

Dystonia

0.400

Biomarker

phenotype

HPO