Disease: Pyruvate Dehydrogenase E1 Alpha Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794729213
rs794729213
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
CUI: C1839413
Disease:
Pyruvate Dehydrogenase E1 Alpha Deficiency 		A 0.700 CausalMutation CLINVAR Caveats when considering ketogenic diets for the treatment of pyruvate dehydrogenase complex deficiency. 11241048 2001
dbSNP: rs794729213
rs794729213
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
CUI: C1839413
Disease:
Pyruvate Dehydrogenase E1 Alpha Deficiency 		A 0.700 CausalMutation CLINVAR Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency. 10679936 2000