Disease Term Disease ID Gene Symbol Classification References Source
Ichthyosis Bullosa of Siemens C0432306 KRT2 Causal Pathogenic evidence from ClinVar 7521371, 7524919, 8077693, 9036938, 9204966, 9804344, 9833038, 10084318, 10233323, 10564334, 10620137, 10688369, 11167982, 11531804, 15949009 ClinVar