MPC1, mitochondrial pyruvate carrier 1, 51660

N. diseases: 56; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907237
rs387907237
Entrez Id: 51660
Gene Symbol: MPC1
MPC1
CUI: C3553607
Disease:
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY 		0.800 GeneticVariation UNIPROT A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans. 22628558 2012
dbSNP: rs387907238
rs387907238
Entrez Id: 51660
Gene Symbol: MPC1
MPC1
CUI: C3553607
Disease:
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY 		0.800 GeneticVariation UNIPROT A mitochondrial pyruvate carrier required for pyruvate uptake in yeast, Drosophila, and humans. 22628558 2012
dbSNP: rs387907237
rs387907237
Entrez Id: 51660
Gene Symbol: MPC1
MPC1
CUI: C3553607
Disease:
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY 		A 0.800 CausalMutation CLINVAR
dbSNP: rs387907238
rs387907238
Entrez Id: 51660
Gene Symbol: MPC1
MPC1
CUI: C3553607
Disease:
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1554264977
rs1554264977
Entrez Id: 51660
Gene Symbol: MPC1
MPC1
CUI: C3553607
Disease:
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY 		C 0.700 GeneticVariation CLINVAR