GLI3

GLI family zinc finger 3

3 disorders 3 causative 7p14.1 gene with protein product

HGNC:4319 Monarch NCBI Gene 2737 ENSG00000106571 UniProt P10071 OMIM 165240

Previous symbols: GCPS, PHS. Aliases: PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV.

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
Greig Cephalopolysyndactyly Syndrome	causative	mechanism: GLI3 Haploinsufficiency
Hypothalamic Hamartoma with Gelastic Seizures	causative somatic	mechanism: Somatic Sonic Hedgehog Pathway Mutation
Pallister-Hall Syndrome	causative germline	mechanism: GLI3 Constitutive Repressor from Truncating Mutations; Hypothalamic Development Disruption; Posterior Limb Patterning Disruption

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
Greig cephalopolysyndactyly syndrome MONDO:0008287	AD	Definitive 2026-03-19	Greig Cephalopolysyndactyly Syndrome causative

Mechanism modules · computed from kb/

limb_digit_patterning_serial_homology via Greig Cephalopolysyndactyly Syndrome

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