Disease Term Disease ID Gene Symbol Classification References Source
Poikiloderma with neutropenia 221046 USB1 Causal Pathogenic evidence from ClinVar - ClinVar
Poikiloderma with Neutropenia C1858723 USB1 Causal Pathogenic evidence from ClinVar 20004881, 20503306, 20618321, 20817924, 21271650, 21872685, 25044170 ClinVar