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.

DisorderRelationshipWhere the gene appears
Hemophilia untyped
Pathogenic Variants
mechanism: Intrinsic Tenase Subunit Deficiency
subtype: Hemophilia B; Hemophilia B Leyden
Hemophilia B untyped
Pathogenic Variants
mechanism: Factor IX Deficiency; Leyden promoter dysfunction
Chlorophacinone Poisoning no genetic record
mechanism: Functional Deficiency of Coagulation Factors II, VII, IX and X; Impaired Gamma-Carboxylation of Vitamin K-Dependent Clotting Factors
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 diseaseMOIClassificationdismech entry
thrombophilia, X-linked, due to factor 9 defect MONDO:0010432 XL Limited
2023-11-06
no dismech entry
hemophilia B MONDO:0010604 XL Definitive
2019-05-22
Hemophilia untyped
Hemophilia B untyped

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