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TWIST2

twist family bHLH transcription factor 2
2 disorders 2 untyped 2q37.3 gene with protein product
HGNC:20670MonarchNCBI Gene 117581ENSG00000233608UniProt Q8WVJ9OMIM 607556

Aliases: DERMO1, Dermo-1, bHLHa39.

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.

DisorderRelationshipWhere the gene appears
Ablepharon-Macrostomia Syndrome untyped
CAUSATIVE
mechanism: TWIST2 p.Glu75Lys Basic-Domain Substitution
Barber-Say Syndrome untyped
CAUSATIVE
mechanism: TWIST2 Basic-Domain Variant

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