DLG4

discs large MAGUK scaffold protein 4

3 disorders 2 causative 1 no genetic record 17p13.1 gene with protein product

HGNC:2903 Monarch NCBI Gene 1742 ENSG00000132535 UniProt P78352 OMIM 602887

Aliases: PSD-95, PSD95, SAP90, SAP-90.

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 Dominant Non-Syndromic Intellectual Disability	causative de novo	mechanism: Disrupted Synaptic Transmission and Plasticity
DLG4-Related Synaptopathy	causative de novo loss of function	mechanism: DLG4 Loss of Function and PSD-95 Haploinsufficiency variant: DLG4 c.2105+235C>T (deep intronic, pseudoexon-activating); DLG4 c.771G>A p.(Ala257=) (synonymous, exon 9 skipping)
Traumatic Brain Injury	no genetic record	mechanism: PSD-95-nNOS Coupling

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
complex neurodevelopmental disorder MONDO:0100038	AD	Definitive 2023-01-16	no dismech entry

Mechanism modules · computed from kb/

excitatory_synapse_scaffold_disruption via DLG4-Related Synaptopathy

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