F9, coagulation factor IX, 2158

N. diseases: 276; N. variants: 99
Disease: Thrombophilia, X-Linked, Due To Factor Ix Defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2749016
Disease: Thrombophilia, X-Linked, Due To Factor Ix Defect
Thrombophilia, X-Linked, Due To Factor Ix Defect 		0.700 CausalMutation disease CLINVAR The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation. 29993188 2018
CUI: C2749016
Disease: Thrombophilia, X-Linked, Due To Factor Ix Defect
Thrombophilia, X-Linked, Due To Factor Ix Defect 		0.700 CausalMutation disease CLINVAR Combined coagulation factor VIII and factor IX deficiency (CDF8F9) in a patient from Lithuania. 27824213 2016
CUI: C2749016
Disease: Thrombophilia, X-Linked, Due To Factor Ix Defect
Thrombophilia, X-Linked, Due To Factor Ix Defect 		0.700 CausalMutation disease CLINVAR Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B. 25470321 2015
CUI: C2749016
Disease: Thrombophilia, X-Linked, Due To Factor Ix Defect
Thrombophilia, X-Linked, Due To Factor Ix Defect 		0.700 CausalMutation disease CLINVAR Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B. 23093250 2013
CUI: C2749016
Disease: Thrombophilia, X-Linked, Due To Factor Ix Defect
Thrombophilia, X-Linked, Due To Factor Ix Defect 		0.700 CausalMutation disease CLINVAR Analysis of F9 point mutations and their correlation to severity of haemophilia B disease. 22639855 2012
CUI: C2749016
Disease: Thrombophilia, X-Linked, Due To Factor Ix Defect
Thrombophilia, X-Linked, Due To Factor Ix Defect 		0.700 CausalMutation disease CLINVAR Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations. 22544209 2012
CUI: C2749016
Disease: Thrombophilia, X-Linked, Due To Factor Ix Defect
Thrombophilia, X-Linked, Due To Factor Ix Defect 		0.700 GeneticVariation disease UNIPROT X-linked thrombophilia with a mutant factor IX (factor IX Padua). 19846852 2009
CUI: C2749016
Disease: Thrombophilia, X-Linked, Due To Factor Ix Defect
Thrombophilia, X-Linked, Due To Factor Ix Defect 		0.700 CausalMutation disease CLINVAR Hemophilia B is a quasi-quantitative condition with certain mutations showing phenotypic plasticity. 19699296 2009
CUI: C2749016
Disease: Thrombophilia, X-Linked, Due To Factor Ix Defect
Thrombophilia, X-Linked, Due To Factor Ix Defect 		0.700 CausalMutation disease CLINVAR Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B. 18624698 2008
CUI: C2749016
Disease: Thrombophilia, X-Linked, Due To Factor Ix Defect
Thrombophilia, X-Linked, Due To Factor Ix Defect 		0.700 CausalMutation disease CLINVAR T296----M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection. 1864609 1991
CUI: C2749016
Disease: Thrombophilia, X-Linked, Due To Factor Ix Defect
Thrombophilia, X-Linked, Due To Factor Ix Defect 		0.700 CausalMutation disease CLINVAR CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series. 2066105 1991
CUI: C2749016
Disease: Thrombophilia, X-Linked, Due To Factor Ix Defect
Thrombophilia, X-Linked, Due To Factor Ix Defect 		0.700 CausalMutation disease CLINVAR Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene. 2198809 1990
CUI: C2749016
Disease: Thrombophilia, X-Linked, Due To Factor Ix Defect
Thrombophilia, X-Linked, Due To Factor Ix Defect 		0.700 CausalMutation disease CLINVAR Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs. 1969838 1990
CUI: C2749016
Disease: Thrombophilia, X-Linked, Due To Factor Ix Defect
Thrombophilia, X-Linked, Due To Factor Ix Defect 		0.700 CausalMutation disease CLINVAR Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins. 2472424 1989
CUI: C2749016
Disease: Thrombophilia, X-Linked, Due To Factor Ix Defect
Thrombophilia, X-Linked, Due To Factor Ix Defect 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C2749016
Disease: Thrombophilia, X-Linked, Due To Factor Ix Defect
Thrombophilia, X-Linked, Due To Factor Ix Defect 		0.700 Biomarker disease CTD_human