Disease Term Disease ID Gene Symbol Classification References Source
Hepatic veno-occlusive disease-immunodeficiency syndrome 79124 SP110 Causal Pathogenic evidence from ClinVar - ClinVar
Hepatic venoocclusive disease with immunodeficiency C1856128 SP110 Causal Pathogenic evidence from ClinVar 16648851, 22621957 ClinVar
SP140 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16648851, 22621957 -