Normal function · from ai-gene-review (P01111, 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
Anal Canal Adenocarcinoma biomarker somatic
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
Noonan Syndrome 6 causative
mechanism: NRAS Germline Gain-of-Function Variant; Oncogenic-Codon Germline Alleles and Tumor Predisposition
discussion: (unnamed)
Ocular Melanoma somatic driver somatic
mechanism: UV-Associated BRAF/NRAS/NF1 Driver Activation
subtype: Conjunctival Melanoma
scoped to subtype: Conjunctival Melanoma
Rosai-Dorfman Disease somatic driver somatic
Systemic Mastocytosis cooperating somatic
Thyroid Follicular Carcinoma somatic driver somatic
mechanism: RAS and PAX8-PPARG Driver Alterations
Cardiofaciocutaneous Syndrome untyped
Pathogenic Variants
Central Nervous System Germ Cell Tumor untyped
Recurrent somatic KIT-RAS-pathway mutation
somatic
mechanism: Recurrent KIT-RAS Signaling Alterations
Costello Syndrome untyped
Pathogenic Variants
Cutaneous Melanoma untyped
Somatic activating mutation
Juvenile Myelomonocytic Leukemia untyped
Somatic activating mutation
scoped to subtype: NRAS-mutated
Melanoma_in_Congenital_Melanocytic_Nevus untyped
Mutations
somatic
mechanism: Genetic Mutations
Noonan Syndrome untyped
Pathogenic Variants
mechanism: Additional RAS-MAPK Signal-Amplifying Variants
subtype: NS6
scoped to subtype: NS6
NRAS Mutant Melanoma untyped
Somatic Oncogenic Mutation
Pleuropulmonary Blastoma untyped
Occasional Somatic Activating Mutation
mechanism: RAS Pathway Activation
BRAF V600E-Mutant Non-Small Cell Lung Cancer no genetic record
mechanism: MAPK Reactivation and Bypass Resistance
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
Noonan syndrome with multiple lentigines MONDO:0007893 AD Limited
2018-05-30
Costello syndrome MONDO:0009026 AD Limited
2018-07-24
cardiofaciocutaneous syndrome MONDO:0015280 AD Limited
2018-07-24
Noonan syndrome MONDO:0018997 AD Definitive
2018-05-30
Mechanism modules · computed from kb/

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