HSPB1 - 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
Charcot-Marie-Tooth Disease Type 2	untyped Causative	mechanism: Presynaptic Neuromuscular Transmission Deficit; Small Heat-Shock Protein Chaperone Dysfunction subtype: CMT2F scoped to subtype: CMT2F
Distal Hereditary Motor Neuronopathy, Autosomal Dominant	untyped	mechanism: Disrupted Proteostasis and Axonal Transport; Motor Neuron and Distal Axon Gene Defect subtype: dHMN2B scoped to subtype: dHMN2B

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
Charcot-Marie-Tooth disease axonal type 2F MONDO:0011687	AD	Definitive 2022-08-03	Charcot-Marie-Tooth Disease Type 2 untyped

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