Disease: Propionic acidemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs745571507
rs745571507
Entrez Id: 5095
Gene Symbol: PCCA
PCCA
CUI: C0268579
Disease:
Propionic acidemia 		T 0.700 CausalMutation CLINVAR N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers. 18414145 2008
dbSNP: rs745571507
rs745571507
Entrez Id: 5095
Gene Symbol: PCCA
PCCA
CUI: C0268579
Disease:
Propionic acidemia 		T 0.700 CausalMutation CLINVAR Propionic acidemia: mutation update and functional and structural effects of the variant alleles. 15464417 2005
dbSNP: rs745571507
rs745571507
Entrez Id: 5095
Gene Symbol: PCCA
PCCA
CUI: C0268579
Disease:
Propionic acidemia 		T 0.700 GeneticVariation CLINVAR Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. 12559849 2003
dbSNP: rs745571507
rs745571507
Entrez Id: 5095
Gene Symbol: PCCA
PCCA
CUI: C0268579
Disease:
Propionic acidemia 		T 0.700 CausalMutation CLINVAR Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. 12559849 2003