MCFD2 - dismech genes

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
Combined Factor V and Factor VIII Deficiency	causative germline loss of function CLINGEN: definitive (Type 2)	mechanism: Biallelic MCFD2 Loss-of-Function Variants; LMAN1-MCFD2 Cargo Receptor Complex Disruption subtype: Type 2 scoped to subtype: Type 2
Rosacea	untyped MR-supported protective biomarker

ClinGen gene–disease validity · snapshot 2026-10-24 · 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
factor 5 and Factor VIII, combined deficiency of, 2 MONDO:0013331	AR	Definitive 2020-06-24	Combined Factor V and Factor VIII Deficiency causative

Identity from HGNC (snapshot 2026-10-24). Page layers are described in the gene pages documentation.