FLCN

folliculin

2 disorders 2 causative 17p11.2 gene with protein product

HGNC:27310 Monarch NCBI Gene 201163 ENSG00000154803 UniProt Q8NFG4 OMIM 607273

Aliases: BHD, MGC17998, MGC23445, DENND8B.

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
Birt-Hogg-Dube Syndrome	causative germlinesomatic loss of function	mechanism: Germline FLCN First-Hit Inactivation; Somatic FLCN Second-Hit Inactivation
Chromophobe Renal Cell Carcinoma	causative germline	mechanism: mTORC1 Pathway Hyperactivation subtype: BHD-associated animal model: Kidney-specific Flcn knockout mouse; Kidney-targeted Bhd (Flcn) knockout mouse scoped to subtype: BHD-associated

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
obsolete Birt-Hogg-Dube syndrome MONDO:0007607	AD	Definitive 2019-04-19	no dismech entry

Mechanism modules · computed from kb/

germline_two_hit_tumor_predisposition via Birt-Hogg-Dube Syndrome
sustaining_proliferative_signaling via Chromophobe Renal Cell Carcinoma

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