PC, pyruvate carboxylase, 5091

N. diseases: 183; N. variants: 32
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940589
rs28940589
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease
T 0.720 CausalMutation CLINVAR
dbSNP: rs113994141
rs113994141
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease
A 0.700 CausalMutation CLINVAR
dbSNP: rs113994142
rs113994142
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease
T 0.700 CausalMutation CLINVAR
dbSNP: rs113994143
rs113994143
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease
A 0.700 CausalMutation CLINVAR
dbSNP: rs113994144
rs113994144
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease
C 0.700 CausalMutation CLINVAR
dbSNP: rs113994145
rs113994145
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease
T 0.700 CausalMutation CLINVAR
dbSNP: rs113994146
rs113994146
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease
T 0.700 CausalMutation CLINVAR
dbSNP: rs113994147
rs113994147
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease
A 0.700 CausalMutation CLINVAR
dbSNP: rs113994148
rs113994148
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease
C 0.700 CausalMutation CLINVAR
dbSNP: rs119103242
rs119103242
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease
A 0.700 CausalMutation CLINVAR
dbSNP: rs1258494752
rs1258494752
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease
0.700 GeneticVariation UNIPROT
dbSNP: rs144583275
rs144583275
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555014332
rs1555014332
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555014957
rs1555014957
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555014957
rs1555014957
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C1849488
Disease:
Increased serum pyruvate
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555014957
rs1555014957
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0001125
Disease:
Acidosis, Lactic
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555014957
rs1555014957
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C1836440
Disease:
Increased serum lactate
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555025823
rs1555025823
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1565209327
rs1565209327
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease
GA 0.700 CausalMutation CLINVAR
dbSNP: rs1565245427
rs1565245427
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease
C 0.700 CausalMutation CLINVAR
dbSNP: rs28940590
rs28940590
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease
A 0.700 CausalMutation CLINVAR
dbSNP: rs28940591
rs28940591
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease
G 0.700 CausalMutation CLINVAR
dbSNP: rs755640269
rs755640269
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease
T 0.700 GeneticVariation CLINVAR
dbSNP: rs763433647
rs763433647
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease
G 0.700 GeneticVariation CLINVAR
dbSNP: rs768514713
rs768514713
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease
A 0.700 CausalMutation CLINVAR