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: rs606231191
rs606231191
Entrez Id: 5160;389840
Gene Symbol: PDHA1;MAP3K15
PDHA1;MAP3K15
CUI: C1839413
Disease:
Pyruvate Dehydrogenase E1 Alpha Deficiency 		AGCCACCTTTGGAAGAGCTGGGCTACCACATCTACTC 0.700 CausalMutation CLINVAR