Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555050165
rs1555050165
GRIA4
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591

2016
dbSNP: rs1555050165
rs1555050165
GRIA4
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders. 26482601

2016
dbSNP: rs1555050165
rs1555050165
GRIA4
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders. 25864721

2015
dbSNP: rs1555050165
rs1555050165
GRIA4
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. 24721225

2014
dbSNP: rs1555050165
rs1555050165
GRIA4
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861

2014
dbSNP: rs1555050165
rs1555050165
GRIA4
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
dbSNP: rs1555050165
rs1555050165
GRIA4
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR A new mode of corticothalamic transmission revealed in the Gria4(-/-) model of absence epilepsy. 21857658

2011
dbSNP: rs1555050165
rs1555050165
GRIA4
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 21376300

2011
dbSNP: rs1555050165
rs1555050165
GRIA4
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Glutamate receptor ion channels: structure, regulation, and function. 20716669

2010
dbSNP: rs1555050165
rs1555050165
GRIA4
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Glutamate receptors on myelinated spinal cord axons: II. AMPA and GluR5 receptors. 19224531

2009
dbSNP: rs1555050165
rs1555050165
GRIA4
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Atypical functional properties of GluK3-containing kainate receptors. 20007474

2009
dbSNP: rs1555050165
rs1555050165
GRIA4
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR X-ray structure, symmetry and mechanism of an AMPA-subtype glutamate receptor. 19946266

2009
dbSNP: rs1555050165
rs1555050165
GRIA4
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Absence seizures in C3H/HeJ and knockout mice caused by mutation of the AMPA receptor subunit Gria4. 18316356

2008
dbSNP: rs1555050165
rs1555050165
GRIA4
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans. 17989220

2007
dbSNP: rs1555050165
rs1555050165
GRIA4
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR NMDA-NR1 and AMPA-GluR4 receptor subunit immunoreactivities in the absence epileptic WAG/Rij rat. 16487682

2006
dbSNP: rs1555050165
rs1555050165
GRIA4
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Extracellular vestibule determinants of Ca2+ influx in Ca2+-permeable AMPA receptor channels. 12692178

2003
dbSNP: rs1555050165
rs1555050165
GRIA4
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Glia-synapse interaction through Ca2+-permeable AMPA receptors in Bergmann glia. 11340205

2001
dbSNP: rs1555050165
rs1555050165
GRIA4
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Postnatal synaptic potentiation: delivery of GluR4-containing AMPA receptors by spontaneous activity. 11036266

2000
dbSNP: rs1555050165
rs1555050165
GRIA4
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR The differential expression of 16 NMDA and non-NMDA receptor subunits in the rat spinal cord and in periaqueductal gray. 8254358

1993
dbSNP: rs1555050165
rs1555050165
GRIA4
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Light and electron immunocytochemical localization of AMPA-selective glutamate receptors in the rat brain. 1374769

1992