SLC25A20, solute carrier family 25 member 20, 788

N. diseases: 130; N. variants: 18
Disease: Carnitine-Acylcarnitine Translocase Deficiency ×
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 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 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 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 Biomarker disease CLINGEN Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient. 9686371 1998
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 Biomarker disease CLINGEN Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient. 9399886 1997
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
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 Biomarker disease CLINGEN 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 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 Bacterial overexpression, purification, and reconstitution of the carnitine/acylcarnitine carrier from rat liver mitochondria. 9731180 1998
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 Biomarker disease GENOMICS_ENGLAND Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient. 9399886 1997
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 Biomarker disease GENOMICS_ENGLAND Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient. 9686371 1998
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 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 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 GermlineCausalMutation disease ORPHANET
CUI: C0342791
Disease: Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-Acylcarnitine Translocase Deficiency 		0.770 Biomarker disease CTD_human
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 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 CausalMutation disease CLINVAR Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency. 10697964 2000
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: 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 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 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 CausalMutation disease CLINVAR Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. 27066551 2015