CBL - dismech genes

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
Noonan Syndrome	causative	mechanism: Additional RAS-MAPK Signal-Amplifying Variants
CBL-related Disorder	untyped Heterozygous germline pathogenic variants (autosomal dominant)	mechanism: Acquired 11q Isodisomy and Biallelic CBL Inactivation; Germline CBL RING-Linker Variant; Loss of CBL E3 Ubiquitin Ligase Activity
Juvenile Myelomonocytic Leukemia	untyped Germline predisposition with acquired biallelic inactivation	scoped to subtype: CBL-associated

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
CBL-related disorder MONDO:0013308	AD	Definitive 2019-04-29	CBL-related Disorder untyped

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