MED23 - 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
Autosomal Recessive Non-Syndromic Intellectual Disability	causative germline	mechanism: Impaired Synaptic Transmission and Plasticity subtype: MRT18 scoped to subtype: MRT18
Mediator Complex Neurodevelopmental Disorder	untyped Causative	mechanism: Tail Module Disruption and Immediate Early Gene Dysregulation subtype: MED23 phenotype: Congenital Heart Defects; Corpus Callosum Anomalies; Hypotonia; Intellectual Disability; Seizures; White Matter Abnormalities scoped to subtype: MED23

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
syndromic intellectual disability MONDO:0000508	AR	Moderate 2026-09-07	no dismech entry

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