SLC25A20, solute carrier family 25 member 20, 788

N. diseases: 130; N. variants: 18
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28934589
rs28934589
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		0.800 GeneticVariation UNIPROT Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation. 15057979 2004
dbSNP: rs28934589
rs28934589
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		0.800 GeneticVariation UNIPROT Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. 15365988 2004
dbSNP: rs28934589
rs28934589
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		0.800 GeneticVariation UNIPROT A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient. 12859414 2003
dbSNP: rs28934589
rs28934589
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		C 0.800 CausalMutation CLINVAR
dbSNP: rs541208710
rs541208710
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		C 0.700 CausalMutation CLINVAR SSIEM 2015 Annual Symposium : Lyon, France, August 2015. 26238931 2015
dbSNP: rs541208710
rs541208710
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		C 0.700 CausalMutation CLINVAR Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response. 25459972 2015
dbSNP: rs541208710
rs541208710
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		C 0.700 CausalMutation CLINVAR Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. 27066551 2015
dbSNP: rs757552268
rs757552268
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		A 0.700 CausalMutation CLINVAR Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature. 25614308 2015
dbSNP: rs778220325
rs778220325
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		A 0.700 CausalMutation CLINVAR Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature. 25614308 2015
dbSNP: rs541208710
rs541208710
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		C 0.700 CausalMutation CLINVAR Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals. 24088670 2013
dbSNP: rs541208710
rs541208710
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		C 0.700 CausalMutation CLINVAR Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest. 17277394 2007
dbSNP: rs757552268
rs757552268
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		A 0.700 CausalMutation CLINVAR A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency. 16919490 2006
dbSNP: rs577331691
rs577331691
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		0.700 GeneticVariation UNIPROT Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. 15365988 2004
dbSNP: rs577331691
rs577331691
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		0.700 GeneticVariation UNIPROT Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation. 15057979 2004
dbSNP: rs541208710
rs541208710
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		C 0.700 CausalMutation CLINVAR Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency. 12559850 2003
dbSNP: rs577331691
rs577331691
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		0.700 GeneticVariation UNIPROT A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient. 12859414 2003
dbSNP: rs778220325
rs778220325
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		A 0.700 CausalMutation CLINVAR Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency. 12559850 2003
dbSNP: rs541208710
rs541208710
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		C 0.700 CausalMutation CLINVAR Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency. 11592821 2001
dbSNP: rs757552268
rs757552268
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		A 0.700 CausalMutation CLINVAR Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency. 11592821 2001
dbSNP: rs757552268
rs757552268
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		A 0.700 CausalMutation CLINVAR Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family. 11350184 2001
dbSNP: rs541208710
rs541208710
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		C 0.700 CausalMutation CLINVAR Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency. 10697964 2000
dbSNP: rs151340616
rs151340616
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1553684897
rs1553684897
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		TA 0.700 CausalMutation CLINVAR
dbSNP: rs1553686314
rs1553686314
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1553686321
rs1553686321
Entrez Id: 788
Gene Symbol: SLC25A20
SLC25A20
CUI: C0342791
Disease:
Carnitine-Acylcarnitine Translocase Deficiency 		A 0.700 CausalMutation CLINVAR