MED25 - 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 2B2	disputed germline
Basel-Vanagaite-Smirin-Yosef Syndrome	untyped Causative	mechanism: Abnormal MED25 pre-mRNA splicing; Biallelic MED25 dysfunction; MED25 Mediator incorporation failure; Reduced SOX9-dependent cartilage matrix transcription animal model: Med25-null mouse
Mediator Complex Neurodevelopmental Disorder	untyped Causative	mechanism: Core Module Disruption (Head, Structural, and Tail) subtype: MED25 scoped to subtype: MED25

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 type 2B2 MONDO:0011570	AR	Disputed 2021-03-22	Charcot-Marie-Tooth Disease Type 2B2 disputed

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