Disease Term Disease ID Gene Symbol Classification References Source
Sucrase-isomaltase deficiency, congenital C1283620 SI Causal Pathogenic evidence from ClinVar 8609217, 8648527, 10903344, 11340066, 14724820, 16329100, 19121318, 19680155, 23103650, 26812950, 27579322, 27749612, 27872184 ClinVar