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VWF - von Willebrand factor

Synonym(s) :
Previous symbols and names : F8VWF
Type : gene with protein product
Chromosomal location : 12p13.31
OMIM: 613160
HGNC: 12726
UniProtKB: P04275
Genatlas: VWF
Ensembl: ENSG00000110799
IUPHAR-DB: -
Reactome: P04275
LOVD: VWF

Diseases list

Disease-causing germline mutation(s) in Von Willebrand disease type 1 ORPHA:166078
Disease-causing germline mutation(s) in Von Willebrand disease type 2A ORPHA:166084
Disease-causing germline mutation(s) in Von Willebrand disease type 2B ORPHA:166087
Disease-causing germline mutation(s) in Von Willebrand disease type 2M ORPHA:166090
Disease-causing germline mutation(s) in Von Willebrand disease type 2N ORPHA:166093
Disease-causing germline mutation(s) in Von Willebrand disease type 3 ORPHA:166096

: Assessed

Gene included in a panel of genes performed as part of a diagnostic test

Additional information

Health care resources for this gene

Diagnostic tests (109)

Research activities on this gene

Specialised Social Services

Eurordis directory

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