SUFU

SUFU negative regulator of hedgehog signaling

5 disorders 5 untyped 10q24.32 gene with protein product

HGNC:16466 Monarch NCBI Gene 51684 ENSG00000107882 UniProt Q9UMX1 OMIM 607035

Aliases: SUFUH, SUFUXL, PRO1280.

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
Basal Cell Carcinoma	untyped Germline Loss-of-Function Mutations
Gorlin Syndrome	untyped Causative (Alternative) loss of function	mechanism: SUFU Germline Mutations
Joubert syndrome	untyped Causative	mechanism: Defective Sonic hedgehog signaling
Medulloblastoma, SHH-Activated	untyped Somatic/Germline Mutation
SUFU-related nevoid basal cell carcinoma syndrome	untyped Causative (Primary) loss of function	mechanism: SUFU Loss with GLI Derepression

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
ciliopathy MONDO:0005308	AR	Limited 2023-03-22	no dismech entry
medulloblastoma MONDO:0007959	AD	Definitive 2018-10-11	Medulloblastoma not named

Mechanism modules · computed from kb/

ciliopathy_dysfunction via Joubert syndrome
hedgehog_pathway_activation via Gorlin Syndrome, SUFU-related nevoid basal cell carcinoma syndrome

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