PC, pyruvate carboxylase, 5091

N. diseases: 183; N. variants: 32
Disease: Pyruvate Carboxylase Deficiency Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119103242
rs119103242
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease 		A 0.700 CausalMutation CLINVAR