F9, coagulation factor IX, 2158

N. diseases: 2; N. variants: 54
Source: UNIPROT ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1 53 1.000 definitive 0.979 38 53 1976 2020
Thrombophilia, X-Linked, Due To Factor Ix Defect
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1 1 0.700 strong 1.000 1 1 1989 2018