DLG3, discs large MAGUK scaffold protein 3, 1741

N. diseases: 144; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1213060424
rs1213060424
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability. 28777483 2017
dbSNP: rs1213060424
rs1213060424
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability. 28777483 2017
dbSNP: rs1241142887
rs1241142887
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability. 28777483 2017
dbSNP: rs1241142887
rs1241142887
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Skewed X-inactivation in a family with DLG3-associated X-linked intellectual disability. 28777483 2017
dbSNP: rs1213060424
rs1213060424
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Next-generation sequencing in X-linked intellectual disability. 25649377 2015
dbSNP: rs1213060424
rs1213060424
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Next-generation sequencing in X-linked intellectual disability. 25649377 2015
dbSNP: rs1241142887
rs1241142887
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Next-generation sequencing in X-linked intellectual disability. 25649377 2015
dbSNP: rs1241142887
rs1241142887
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Next-generation sequencing in X-linked intellectual disability. 25649377 2015
dbSNP: rs1213060424
rs1213060424
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. 24721225 2014
dbSNP: rs1213060424
rs1213060424
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. 24721225 2014
dbSNP: rs1241142887
rs1241142887
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. 24721225 2014
dbSNP: rs1241142887
rs1241142887
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. 24721225 2014
dbSNP: rs1213060424
rs1213060424
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants. 22659343 2012
dbSNP: rs1213060424
rs1213060424
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants. 22659343 2012
dbSNP: rs1241142887
rs1241142887
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants. 22659343 2012
dbSNP: rs1241142887
rs1241142887
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants. 22659343 2012
dbSNP: rs4844229
rs4844229
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
CUI: C0428472
Disease:
Serum HDL cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs4844229
rs4844229
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs1213060424
rs1213060424
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation. 19795139 2010
dbSNP: rs1213060424
rs1213060424
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation. 19795139 2010
dbSNP: rs1241142887
rs1241142887
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation. 19795139 2010
dbSNP: rs1241142887
rs1241142887
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation. 19795139 2010
dbSNP: rs1213060424
rs1213060424
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. 15185169 2004
dbSNP: rs1213060424
rs1213060424
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 CausalMutation CLINVAR Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. 15185169 2004
dbSNP: rs1241142887
rs1241142887
Entrez Id: 1741
Gene Symbol: DLG3
DLG3
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. 15185169 2004