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 CLINVAR Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia. 23053474 2013
Entrez Id: 5096
Gene Symbol: PCCB
PCCB 		0.800 GeneticVariation disease BEFREE In this study, we describe the genomic organization of the coding sequence of the human PCCB gene and the characterization of mutations causing PA in a total of 29 unrelated patients-21 from Spain and 8 from Latin America. 9683601 1998
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: 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: 5096
Gene Symbol: PCCB
PCCB 		0.800 GeneticVariation disease CLINVAR Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia. 22334403 2012
Entrez Id: 5096
Gene Symbol: PCCB
PCCB 		0.800 GeneticVariation disease CLINVAR Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. 15059621 2004
Entrez Id: 5096
Gene Symbol: PCCB
PCCB 		0.800 GeneticVariation disease BEFREE A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene. 7789958 1995
Entrez Id: 5096
Gene Symbol: PCCB
PCCB 		0.800 GeneticVariation disease CLINVAR Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy. 24916042 2014
Entrez Id: 5096
Gene Symbol: PCCB
PCCB 		0.800 GeneticVariation disease BEFREE Mutations in either gene cause PA and to date, up to 47 different allelic variations in the PCCB gene have been identified in different populations. 12757933 2003
Entrez Id: 5096
Gene Symbol: PCCB
PCCB 		0.800 GeneticVariation disease UNIPROT Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications. 12189489 2002
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: 5096
Gene Symbol: PCCB
PCCB 		0.800 GeneticVariation disease UNIPROT Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. 15059621 2004
Entrez Id: 5096
Gene Symbol: PCCB
PCCB 		0.800 GeneticVariation disease CLINVAR Molecular analysis of PCCB gene in Korean patients with propionic acidemia. 12409268 2002
Entrez Id: 5096
Gene Symbol: PCCB
PCCB 		0.800 GeneticVariation disease BEFREE Inherited deficiency of PCC due to mutations in either the PCCA or the PCCB gene results in propionic acidemia (PA), a clinically heterogeneous disorder with a severe, often lethal, neonatal form, and a mild, later onset form. 9385377 1997
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 GeneticVariation disease CLINVAR Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene. 9887338 1999
Entrez Id: 5096
Gene Symbol: PCCB
PCCB 		0.800 GeneticVariation disease UNIPROT Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients. 9683601 1998
Entrez Id: 5096
Gene Symbol: PCCB
PCCB 		0.800 GeneticVariation disease UNIPROT An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia. 2154743 1990
Entrez Id: 5096
Gene Symbol: PCCB
PCCB 		0.800 GeneticVariation disease CLINVAR Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania. 12888983 2003
Entrez Id: 5096
Gene Symbol: PCCB
PCCB 		0.800 GeneticVariation disease BEFREE The ability to partially correct nonsense PCCA and PCCB alleles represents a potential therapy or supplementary treatment for a number of propionic acidemia (PA) patients, encouraging further clinical trials with readthrough drugs without toxic effects such as PTC124 or other newly developed compounds.Hum Mutat 33:973-980, 2012. 22334403 2012
Entrez Id: 5096
Gene Symbol: PCCB
PCCB 		0.800 GeneticVariation disease CLINVAR Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias. 24059531 2013
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 BEFREE Mutations in the PCCA or PCCB genes coding for alpha and beta subunits of propionyl CoA carboxylase can cause propionic acidemia. 15949719 2005
Entrez Id: 5096
Gene Symbol: PCCB
PCCB 		0.800 GeneticVariation disease BEFREE Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia. 8411997 1993
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