Normal function · from ai-gene-review (P36507, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status IN_PROGRESS; 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
Cardiofaciocutaneous Syndrome causative
mechanism: MEK1 and MEK2 Kinase Hyperactivation
subtype: CFC4
scoped to subtype: CFC4
Noonan Syndrome untyped
Pathogenic Variants
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
cardiofaciocutaneous syndrome MONDO:0015280 AD Definitive
2018-07-24
Noonan syndrome MONDO:0018997 AD Limited
2018-06-01

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