TCF4 - 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
Fuchs Endothelial Corneal Dystrophy	untyped Disease-causing germline mutation(s) in	mechanism: TCF4 CTG Repeat Expansion Susceptibility
Pitt-Hopkins Syndrome	untyped Pathogenic Mutations
Blastic Plasmacytoid Dendritic Cell Neoplasm	no genetic record	mechanism: TCF4-Dependent Super-Enhancer Network Addiction
Chromosome 18q Deletion Syndrome	no genetic record	mechanism: Neurodevelopmental dysregulation
Ewing Sarcoma	no genetic record	mechanism: Core Regulatory Circuitry Activation

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
Pitt-Hopkins syndrome MONDO:0012589	AD	Definitive 2018-05-02	Pitt-Hopkins Syndrome untyped

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