Disease Term Disease ID Gene Symbol Classification References Source
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency 217467 HRG Causal Pathogenic evidence from ClinVar - ClinVar
Severe hereditary thrombophilia due to congenital protein C deficiency 745 PROC Causal Pathogenic evidence from ClinVar - ClinVar
Severe hereditary thrombophilia due to congenital protein S deficiency 743 PROS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Dominant C3502052 PROS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Thrombophilia, Hereditary, Due To Protein S Deficiency, Autosomal Recessive C3502051 PROS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Hereditary thrombophilia due to congenital antithrombin deficiency 82 SERPINC1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -