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: 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: 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