CLPB - 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
3-Methylglutaconic Aciduria Type VIIA	causative de novo dominant negative	mechanism: Dominant-Negative Inhibition of CLPB Disaggregase
3-Methylglutaconic Aciduria Type VIIB	causative germline loss of function	mechanism: CLPB Disaggregase Loss of Function
Severe Congenital Neutropenia 9	causative germline dominant negative	mechanism: Dominant-Negative Inhibition of CLPB Disaggregase

ClinGen gene–disease validity · snapshot 2026-10-24 · 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
Leigh syndrome MONDO:0009723	AR	Limited 2020-11-23	Leber-like Hereditary Optic Neuropathy, Autosomal Recessive 1 not named Leigh Syndrome not named

Identity from HGNC (snapshot 2026-10-24). Page layers are described in the gene pages documentation.