Normal function · from ai-gene-review (P01112, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.

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.

DisorderRelationshipWhere the gene appears
Ameloblastoma somatic driver somatic
mechanism: Somatic RTK-RAS-MAPK Driver Alterations
Embryonal Rhabdomyosarcoma somatic driver somatic
mechanism: RAS Pathway Activation
Medullary Thyroid Carcinoma somatic driver somatic
mechanism: RAS Mutation-Driven Proliferation
scoped to subtype: Sporadic MTC
Thyroid Follicular Carcinoma somatic driver somatic
mechanism: RAS and PAX8-PPARG Driver Alterations
Costello Syndrome untyped
Causative
mechanism: Germline HRAS gain-of-function mutation
Cutaneous Squamous Cell Carcinoma untyped
Somatic Mutation
Penile Cancer untyped
Somatic Driver Mutation
somatic
mechanism: HPV-Independent Somatic Tumor Suppressor Loss
Thymoma untyped
Recurrent somatic mutation
Transitional Cell Carcinoma untyped somatic
Vulvar Carcinoma untyped
Somatic Mutation
mechanism: HRAS/RAS-MAPK Signaling Activation
Ethmoid Sinus Adenocarcinoma no genetic record somatic
mechanism: Heterogeneous Oncogenic Pathway Mutation
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 diseaseMOIClassificationdismech entry
Costello syndrome MONDO:0009026 AD Definitive
2018-07-24
Noonan syndrome-like disorder with loose anagen hair MONDO:0011899 AD Disputed
2018-07-25
Mechanism modules · computed from kb/

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