Disease Term Disease ID Gene Symbol Classification References Source
Carnitine-acylcarnitine translocase deficiency 159 SLC25A20 Causal Pathogenic evidence from ClinVar - ClinVar
Carnitine-Acylcarnitine Translocase Deficiency C0342791 SLC25A20 Causal Pathogenic evidence from ClinVar 9399886, 9686371, 9731180, 10697964, 11162577, 11350184, 11592821, 12559850, 12859414, 15057979, 15365988, 16919490, 17277394, 21605995, 24088670, 25459972, 25614308, 26238931, 27066551, 27604308 ClinVar