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
Centronuclear Myopathy causative
mechanism: DNM2 dynamin-2 dysfunction
subtype: DNM2-CNM
scoped to subtype: DNM2-CNM
Charcot-Marie-Tooth Disease Dominant Intermediate B causative germline partial loss of function
mechanism: DNM2 Variant Impairing Dynamin-2 Lipid Binding
Intermediate Charcot-Marie-Tooth Disease causative germline
mechanism: DNM2 Membrane Remodeling Defect
subtype: DI-CMTB
scoped to subtype: DI-CMTB
Lethal Congenital Contracture Syndrome causative germline
mechanism: Endocytic Trafficking Failure
subtype: LCCS5
scoped to subtype: LCCS5
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
autosomal dominant centronuclear myopathy MONDO:0008048 AD Definitive
2019-12-20
no dismech entry
Charcot-Marie-Tooth disease MONDO:0015626 AD Definitive
2020-10-27

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