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 		0.720 GeneticVariation BEFREE The gene for PC contains a homozygous founder mutation (G1828-->A) that results in an Ala610-->Thr amino acid substitution in Ojibwa with Type A PC deficiency. 12437512 2003
dbSNP: rs28940589
rs28940589
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease 		0.720 GeneticVariation BEFREE Screening both the cDNA and the gene of individuals with the simple A form of PC deficiency revealed an 1828G-->A missense mutation in 11 Ojibwa and 2 Cree patients and a 2229G-->T transversion mutation in 2 brothers of Micmac origin. 9585612 1998
dbSNP: rs28940589
rs28940589
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease 		T 0.720 CausalMutation CLINVAR
dbSNP: rs7110302
rs7110302
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0202239
Disease:
Uric acid measurement (procedure) 		T 0.700 GeneticVariation GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
dbSNP: rs7122539
rs7122539
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0005586
Disease:
Bipolar Disorder 		G 0.700 GeneticVariation GWASCAT Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019
dbSNP: rs79214621
rs79214621
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0042834
Disease:
Vital capacity 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs191456353
rs191456353
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0149782
Disease:
Squamous cell carcinoma of lung 		G 0.700 GeneticVariation GWASCAT Genome-wide association study of familial lung cancer. 29924316 2018
dbSNP: rs113994145
rs113994145
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease 		T 0.700 GeneticVariation CLINVAR Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219 2014
dbSNP: rs1555013840
rs1555013840
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease 		TATCA 0.700 GeneticVariation CLINVAR Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency. 23430542 2013
dbSNP: rs7122539
rs7122539
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0004352
Disease:
Autistic Disorder 		0.700 GeneticVariation GWASDB Individual common variants exert weak effects on the risk for autism spectrum disorders. 22843504 2012
dbSNP: rs113994145
rs113994145
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease 		T 0.700 GeneticVariation CLINVAR Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency. 19306334 2009
dbSNP: rs113994145
rs113994145
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease 		T 0.700 GeneticVariation CLINVAR The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival. 18676167 2008
dbSNP: rs1555013840
rs1555013840
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease 		TATCA 0.700 GeneticVariation CLINVAR The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival. 18676167 2008
dbSNP: rs756355930
rs756355930
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease 		A 0.700 CausalMutation CLINVAR The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival. 18676167 2008
dbSNP: rs756355930
rs756355930
Entrez Id: 5091
Gene Symbol: PC
PC
CUI: C0034341
Disease:
Pyruvate Carboxylase Deficiency Disease 		A 0.700 CausalMutation CLINVAR Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings. 12112657 2002
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