DisGeNET - a database of gene-disease associations

Gene: PDHA1 ×

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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

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5160
Gene Symbol:	PDHA1

PDHA1

CUI:	C0751596
Disease:	Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal

Pyruvate Dehydrogenase Complex Deficiency Disease, Neonatal

0.300

Biomarker

CTD_human

Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene.

1990