Disease Term Disease ID Gene Symbol Classification References Source
X-linked sideroblastic anemia 75563, C4551511 ALAS2 Causal Pathogenic evidence from ClinVar 1570328, 8107717, 9858242, 10029606, 10577279, 12031592, 12393718, 18637800, 19731322, 21252495, 21309041, 23263862, 29903433 ClinVar