PCCB, propionyl-CoA carboxylase subunit beta, 5096

N. diseases: 57; N. variants: 71
Disease: Arthritis, Psoriatic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		0.020 Biomarker disease BEFREE The goal of this study was to identify mutations in the propionyl-CoA carboxylase alpha subunit (PCCA) and propionyl-CoA carboxylase beta subunit (PCCB) genes, and to assess their effects on propionic academia (PA) patients. 27227689 2016
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		0.020 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