SLC25A20, solute carrier family 25 member 20, 788

N. diseases: 130; N. variants: 18
Disease: Carnitine-Acylcarnitine Translocase Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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