UBE3A - 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
Angelman Syndrome	untyped Causative	mechanism: Maternal UBE3A allele disruption; Neuron-specific paternal UBE3A silencing subtype: UBE3A pathogenic variant Angelman syndrome animal model: Mouse (Mus musculus); Pig (Sus scrofa) treatment: Rugonersen UBE3A-ATS antisense oligonucleotide therapy
15q11q13 Microduplication Syndrome	no genetic record	mechanism: Maternal 15q11-q13 dosage increase; UBE3A-dependent neuronal hyperexcitability

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
Angelman syndrome MONDO:0007113	AD	Definitive 2018-05-02	Angelman Syndrome untyped

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