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DLG1

discs large MAGUK scaffold protein 1
2 disorders 1 causative 1 no genetic record 3q29 gene with protein product
HGNC:2900MonarchNCBI Gene 1739ENSG00000075711UniProt Q12959OMIM 601014

Aliases: SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1.

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
Chromosome 3q29 Microdeletion Syndrome causative loss of function
mechanism: Combinatorial Haploinsufficiency Across the 3q29 Interval
Chromosome 3q29 Microduplication Syndrome no genetic record
mechanism: Gain of Dosage of Synaptic and Metabolic Candidate Genes

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