Disease Term Disease ID Gene Symbol Classification References Source
Lysinuric protein intolerance 470 SLC7A7 Causal Pathogenic evidence from ClinVar - ClinVar
Lysinuric Protein Intolerance C0268647 SLC7A7 Causal Pathogenic evidence from ClinVar 9829974, 10080182, 10631139, 10655553, 12402335, 15756301, 15776427, 17764084, 25335805, 27604308 ClinVar