Disease Term Disease ID Gene Symbol Classification References Source
Palmoplantar keratoderma-esophageal carcinoma syndrome 2198 RHBDF2 Causal Pathogenic evidence from ClinVar - ClinVar
TYLOSIS WITH ESOPHAGEAL CANCER C1835664 RHBDF2 Causal Pathogenic evidence from ClinVar 22265016, 22638770 ClinVar