Disease: Propionic acidemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		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
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 CausalMutation disease CLINVAR Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias. 30159853 2018
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		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
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 GeneticVariation disease CLINVAR Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine. 27900673 2017
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		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
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 CausalMutation disease CLINVAR Anaplerotic therapy in propionic acidemia. 28712602 2017
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		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
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 CausalMutation disease CLINVAR Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine. 27900673 2017
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 CausalMutation disease CLINVAR Propionyl-CoA carboxylase - A review. 29033250 2017
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 GeneticVariation disease CLINVAR Anaplerotic therapy in propionic acidemia. 28712602 2017
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 GeneticVariation disease CLINVAR Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes. 27227689 2016
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 CausalMutation disease CLINVAR Autism in patients with propionic acidemia. 27825584 2016
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 CausalMutation disease CLINVAR Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes. 26740382 2016
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 GeneticVariation disease CLINVAR Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria. 27489777 2016
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		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
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 CausalMutation disease CLINVAR Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes. 27227689 2016
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 GeneticVariation disease CLINVAR Autism in patients with propionic acidemia. 27825584 2016
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 CausalMutation disease CLINVAR Biochemical and molecular characteristics of patients with organic acidaemias and urea cycle disorders identified through newborn screening. 25047749 2015
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 CausalMutation disease CLINVAR Clinical characteristics and mutation analysis of propionic acidemia in Thailand. 24464666 2014
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 GeneticVariation disease CLINVAR Clinical characteristics and mutation analysis of propionic acidemia in Thailand. 24464666 2014
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 GeneticVariation disease CLINVAR Two frequent mutations associated with the classic form of propionic acidemia in Taiwan. 24863100 2014
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 CausalMutation disease CLINVAR Two frequent mutations associated with the classic form of propionic acidemia in Taiwan. 24863100 2014
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 GeneticVariation disease BEFREE We generated an adult hypomorphic model of PA in Pcca(-) mice using a transgene bearing an A138T mutant of the human PCCA protein. 23648696 2013
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.800 CausalMutation disease CLINVAR Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia. 23053474 2013