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
Dilated Cardiomyopathy 1NN causative
mechanism: RAF1 Variant Altering Kinase Activity
Pilocytic Astrocytoma somatic driver somatic
mechanism: Constitutive MAPK Cascade Activation
Melanoma_in_Congenital_Melanocytic_Nevus untyped
Gene fusions
Noonan Syndrome untyped
Pathogenic Variants
mechanism: RAF1 Kinase Hyperactivation
subtype: NS5
scoped to subtype: NS5
Noonan Syndrome with Multiple Lentigines untyped
Pathogenic Variants
mechanism: RAF1/BRAF Kinase Gain-of-Function
subtype: LPRD2
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
2018-07-25
Costello syndrome MONDO:0009026 AD Disputed
2018-07-24
cardiofaciocutaneous syndrome MONDO:0015280 AD Disputed
2018-05-31
Noonan syndrome MONDO:0018997 AD Definitive
2024-10-23
Mechanism modules · computed from kb/

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