Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5096
Gene Symbol: PCCB
PCCB 		0.800 GeneticVariation disease BEFREE Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene. 31132581 2019
Entrez Id: 5095
Gene Symbol: PCCA
PCCA 		0.800 Biomarker disease BEFREE CRISPR-edited MUT and PCCA HEK293 cells recapitulate primary defects of MMA and PA and have upregulation of transcripts associated with serine and thiol metabolism including PSAT1. 31449969 2019
Entrez Id: 5096
Gene Symbol: PCCB
PCCB 		0.800 GeneticVariation disease BEFREE <b>Background:</b> Propionic acidemia (PA) is an extremely rare autosomal recessive disorder which is caused by the deficiency of propionyl-CoA carboxylase (PCC) and associated with pathogenic variants in PCCA or PCCB gene. 30186825 2018
Entrez Id: 5096
Gene Symbol: PCCB
PCCB 		0.800 GeneticVariation disease CLINVAR Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations. 30274917 2018
Entrez Id: 5096
Gene Symbol: PCCB
PCCB 		0.800 Biomarker disease GENOMICS_ENGLAND Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients. 30014764 2018
Entrez Id: 5095
Gene Symbol: PCCA
PCCA 		0.800 CausalMutation disease CLINVAR Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias. 30159853 2018
Entrez Id: 5095
Gene Symbol: PCCA
PCCA 		0.800 GeneticVariation disease BEFREE <b>Conclusion:</b> Two novel mutations (c. 802C>T and c.827delG) in PCCA gene may be associated with late-onset PA, expanding its mutational spectrum. 30186825 2018
Entrez Id: 5096
Gene Symbol: PCCB
PCCB 		0.800 GeneticVariation disease BEFREE Propionic acidemia (PA) is caused by mutations in the PCCA and PCCB genes, encoding α and β subunits, respectively, of the mitochondrial enzyme propionyl-CoA carboxylase (PCC). 30274917 2018
Entrez Id: 5095
Gene Symbol: PCCA
PCCA 		0.800 GeneticVariation disease CLINVAR Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine. 27900673 2017
Entrez Id: 5096
Gene Symbol: PCCB
PCCB 		0.800 CausalMutation disease CLINVAR Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation. 27776753 2017
Entrez Id: 5095
Gene Symbol: PCCA
PCCA 		0.800 GeneticVariation disease BEFREE Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene. 28925364 2017
Entrez Id: 5095
Gene Symbol: PCCA
PCCA 		0.800 CausalMutation disease CLINVAR Anaplerotic therapy in propionic acidemia. 28712602 2017
Entrez Id: 5096
Gene Symbol: PCCB
PCCB 		0.800 GeneticVariation disease BEFREE A targeted analysis of the PCCA and PCCB genes using available WES data from 157 further DCM patients subsequently identified another patient with propionic acidemia. 28853722 2017
Entrez Id: 5095
Gene Symbol: PCCA
PCCA 		0.800 GeneticVariation disease BEFREE A targeted analysis of the PCCA and PCCB genes using available WES data from 157 further DCM patients subsequently identified another patient with propionic acidemia. 28853722 2017
Entrez Id: 5095
Gene Symbol: PCCA
PCCA 		0.800 CausalMutation disease CLINVAR Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine. 27900673 2017
Entrez Id: 5096
Gene Symbol: PCCB
PCCB 		0.800 GeneticVariation disease CLINVAR Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine. 27900673 2017
Entrez Id: 5095
Gene Symbol: PCCA
PCCA 		0.800 CausalMutation disease CLINVAR Propionyl-CoA carboxylase - A review. 29033250 2017
Entrez Id: 5095
Gene Symbol: PCCA
PCCA 		0.800 GeneticVariation disease CLINVAR Anaplerotic therapy in propionic acidemia. 28712602 2017
Entrez Id: 5095
Gene Symbol: PCCA
PCCA 		0.800 GeneticVariation disease CLINVAR Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes. 27227689 2016
Entrez Id: 5095
Gene Symbol: PCCA
PCCA 		0.800 CausalMutation disease CLINVAR Autism in patients with propionic acidemia. 27825584 2016
Entrez Id: 5095
Gene Symbol: PCCA
PCCA 		0.800 CausalMutation disease CLINVAR Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes. 26740382 2016
Entrez Id: 5096
Gene Symbol: PCCB
PCCB 		0.800 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 5096
Gene Symbol: PCCB
PCCB 		0.800 CausalMutation disease CLINVAR A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening. 27578510 2016
Entrez Id: 5096
Gene Symbol: PCCB
PCCB 		0.800 GeneticVariation disease CLINVAR Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism. 27243974 2016
Entrez Id: 5096
Gene Symbol: PCCB
PCCB 		0.800 Biomarker disease BEFREE Propionic acidemia (PA) is a disorder of intermediary metabolism with defects in the alpha or beta subunits of propionyl CoA carboxylase (PCCA and PCCB respectively) enzyme. 26740382 2016