Disease Term Disease ID Gene Symbol Classification References Source
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2 C3550921 COX7B Causal Pathogenic evidence from ClinVar 9747372, 23122588, 27604308 ClinVar
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3 C4225421 NDUFB11 Causal Pathogenic evidence from ClinVar 25772934 ClinVar