Disease: Protein C Deficiency ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Protein C Deficiency
CUI: C0398625
Disease: Protein C Deficiency
0.010 GeneticVariation BEFREE Missense mutations, three of them novel (Asn210-->Val, Asn248-->Ile, Ala355-->Val), were found in the protein C (PROC) genes of 7 patients with inherited protein C deficiency associated with venous thrombosis. 9788727 1998