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: rs1158194122
rs1158194122
Entrez Id: 8050;51074
Gene Symbol: PDHX;APIP
PDHX;APIP
CUI: C1839413
Disease:
Pyruvate Dehydrogenase E1 Alpha Deficiency 		A 0.700 GeneticVariation CLINVAR