SLC25A20, solute carrier family 25 member 20, 788

N. diseases: 130; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 GeneticVariation disease BEFREE This report describes the clinical characteristics, biochemical findings and molecular analysis of SLC25A20 gene of patients with CACTD in Guangdong. 31108048 2019
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 CausalMutation disease CLINVAR SSIEM 2015 Annual Symposium : Lyon, France, August 2015. 26238931 2015
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 CausalMutation disease CLINVAR Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature. 25614308 2015
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 CausalMutation disease CLINVAR Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. 27066551 2015
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 GeneticVariation disease BEFREE The mutation analysis identified homozygous IVS2-10T>G in the SLC25A20 gene in both patients, confirming the diagnosis of CACT deficiency. 25459972 2015
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 CausalMutation disease CLINVAR Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response. 25459972 2015
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 GeneticVariation disease BEFREE Here, we analyzed the CACT gene in 2 patients diagnosed clinically with CACT deficiency, 18 patients with non-traumatic rhabdomyolysis and 58 healthy individuals, all of whom were confirmed to have normal CPT2 genotypes. 24088670 2013
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 CausalMutation disease CLINVAR Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals. 24088670 2013
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 Biomarker disease CLINGEN In this study, we used Sanger sequencing and target array CGH to identify molecular defects in the SLC25A20 gene of patients with clinical features and an acylcarnitine profile consistent with CACT deficiency. 21605995 2011
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 CausalMutation disease CLINVAR Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest. 17277394 2007
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 GeneticVariation disease BEFREE Due to the urgency of prenatal diagnosis in the second family, molecular diagnosis was performed prior to demonstration of CACT enzyme deficiency, illustrating that mutation analysis is a rapid and reliable approach to first-line diagnosis of CACT deficiency. 16919490 2006
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 CausalMutation disease CLINVAR A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency. 16919490 2006
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 Biomarker disease CLINGEN Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. 15365988 2004
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 Biomarker disease BEFREE Carnitine-acylcarnitine translocase CACT deficiency is a very rare autosomal recessive disease. 15159657 2004
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 GeneticVariation disease BEFREE Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. 15365988 2004
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 GeneticVariation disease UNIPROT Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. 15365988 2004
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 GeneticVariation disease UNIPROT Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation. 15057979 2004
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 CausalMutation disease CLINVAR Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency. 12559850 2003
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 Biomarker disease CLINGEN Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency. 12559850 2003
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 GeneticVariation disease UNIPROT A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient. 12859414 2003
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 Biomarker disease CLINGEN Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency. 11592821 2001
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 CausalMutation disease CLINVAR Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency. 11592821 2001
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 CausalMutation disease CLINVAR Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family. 11350184 2001
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 Biomarker disease CLINGEN We report functional studies on the mutant CACT proteins from a severe and a mild patient with CACT deficiency. 11162577 2001