DisGeNET - a database of gene-disease associations

Dystonia, C0013421

Gene: PDHX ×

Source: ALL

Results per page

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

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	8050
Gene Symbol:	PDHX

PDHX

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

Entrez Id:	8050
Gene Symbol:	PDHX

PDHX

0.400

Biomarker

phenotype

GENOMICS_ENGLAND

Entrez Id:	8050
Gene Symbol:	PDHX

PDHX

0.400

Biomarker

phenotype

HPO