FERMT1

FERM domain containing kindlin 1

2 disorders 2 untyped 20p12.3 gene with protein product

HGNC:15889 Monarch NCBI Gene 55612 ENSG00000101311 UniProt Q9BQL6 OMIM 607900

Previous symbols: C20orf42. Aliases: FLJ20116, URP1, KIND1, UNC112A.

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
Epidermolysis Bullosa	untyped Causative	mechanism: Basement Membrane Zone Structural Disruption
Kindler Epidermolysis Bullosa	untyped Causative	mechanism: FERMT1 Mutations and Loss of Kindlin-1

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
Kindler syndrome MONDO:0008260	AR	Definitive 2026-04-08	Kindler Epidermolysis Bullosa untyped

Mechanism modules · computed from kb/

dermal_epidermal_junction_adhesion_failure via Epidermolysis Bullosa, Kindler Epidermolysis Bullosa

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