KEGG   VARIANT: 2158v1
Entry
2158v1                      Variant                                
Name
F9 mutation
Type
Loss of function
Gene
F9  coagulation factor IX [KO:K01321]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300746
Network
nt06514  Coagulation cascade
Disease
H00219  Hemophilia
H00223  Inherited thrombophilia
Drug target
Coagulation factor IX (DG00171): D05201<JP> D08794<JP> D08797<JP/US> D10401 D10522<JP> D10538 D10757<JP> D10770<JP>
Fidanacogene elaparvovec: D12908
Reference
PMID:34168126
  Authors
Berntorp E, Fischer K, Hart DP, Mancuso ME, Stephensen D, Shapiro AD, Blanchette V
  Title
Haemophilia.
  Journal
Nat Rev Dis Primers 7:45 (2021)
DOI:10.1038/s41572-021-00278-x
Reference
PMID:31577252
  Authors
Dautaj A, Krasi G, Bushati V, Precone V, Gheza M, Fioretti F, Sartori M, Costantini A, Benedetti S, Bertelli M
  Title
Hereditary thrombophilia.
  Journal
Acta Biomed 90:44-46 (2019)
DOI:10.23750/abm.v90i10-S.8758
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