F8

coagulation factor VIII

2 disorders 1 untyped 1 causative Xq28 gene with protein product

HGNC:3546 Monarch NCBI Gene 2157 ENSG00000185010 UniProt P00451 OMIM 300841

Previous symbols: F8C. Aliases: FVIII, DXS1253E, HEMA.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Hemophilia A	causative germline	mechanism: Factor VIII Deficiency
Hemophilia	untyped Pathogenic Variants	mechanism: Intrinsic Tenase Subunit Deficiency subtype: Hemophilia A

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
hemophilia A MONDO:0010602	XL	Definitive 2019-07-24	Hemophilia untyped Hemophilia A causative

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.