Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554770046
rs1554770046
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 CausalMutation CLINVAR Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. 28051072

2017

dbSNP: rs1554770046
rs1554770046
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 CausalMutation CLINVAR De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy. 28389307

2017

dbSNP: rs1554770046
rs1554770046
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 CausalMutation CLINVAR Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 27164704

2016

dbSNP: rs1554770046
rs1554770046
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 CausalMutation CLINVAR GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders. 25864721

2015

dbSNP: rs1554770046
rs1554770046
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 CausalMutation CLINVAR The GluN2B subunit of N-methy-D-asparate receptor regulates the radial migration of cortical neurons in vivo. 25838242

2015

dbSNP: rs1554770046
rs1554770046
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 CausalMutation CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861

2014

dbSNP: rs1554770046
rs1554770046
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 CausalMutation CLINVAR GRIN2A mutations cause epilepsy-aphasia spectrum disorders. 23933818

2013

dbSNP: rs1554770046
rs1554770046
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 CausalMutation CLINVAR Integrative mechanisms of oriented neuronal migration in the developing brain. 23937349

2013

dbSNP: rs1554770046
rs1554770046
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 CausalMutation CLINVAR The NMDA receptor as a target for cognitive enhancement. 22796429

2013

dbSNP: rs1554770046
rs1554770046
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013

dbSNP: rs1554770046
rs1554770046
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 CausalMutation CLINVAR Functional insights from glutamate receptor ion channel structures. 22974439

2013

dbSNP: rs1554770046
rs1554770046
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 CausalMutation CLINVAR Overstimulation of NMDA receptors impairs early brain development in vivo. 22606296

2012

dbSNP: rs1554770046
rs1554770046
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 CausalMutation CLINVAR Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 21376300

2011

dbSNP: rs1554770046
rs1554770046
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 CausalMutation CLINVAR Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. 20890276

2010

dbSNP: rs1554770046
rs1554770046
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 CausalMutation CLINVAR The NCBI BioSystems database. 19854944

2010

dbSNP: rs1554770046
rs1554770046
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 CausalMutation CLINVAR Model of infantile spasms induced by N-methyl-D-aspartic acid in prenatally impaired brain. 17315208

2007

dbSNP: rs1554770046
rs1554770046
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 CausalMutation CLINVAR The chromosome 9q subtelomere deletion syndrome. 17910072

2007

dbSNP: rs1554770046
rs1554770046
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 CausalMutation CLINVAR NMDA receptors, glial cells, and clinical medicine. 16600850

2006

dbSNP: rs1554770046
rs1554770046
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 CausalMutation CLINVAR The glutamate story. 16402093

2006

dbSNP: rs1554770046
rs1554770046
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 CausalMutation CLINVAR Knocking-down the NMDAR1 subunit in a limited amount of neurons in the rat hippocampus impairs learning. 16635252

2006

dbSNP: rs1554770046
rs1554770046
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 CausalMutation CLINVAR Evidence for a tetrameric structure of recombinant NMDA receptors. 9526012

1998

dbSNP: rs1554770046
rs1554770046
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 CausalMutation CLINVAR Molecular cloning and chromosomal localization of the key subunit of the human N-methyl-D-aspartate receptor. 7679115

1993

dbSNP: rs1554770046
rs1554770046
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 CausalMutation CLINVAR Molecular cloning and characterization of the rat NMDA receptor. 1834949

1991

dbSNP: rs1554770046
rs1554770046
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 CausalMutation CLINVAR Luteinizing hormone and follicle stimulating hormone secretion patterns in boys throughout puberty measured using highly sensitive immunoradiometric assays. 2516786

1989

dbSNP: rs1554770046
rs1554770046
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
C 0.700 CausalMutation CLINVAR Excitatory amino acids in synaptic transmission in the Schaffer collateral-commissural pathway of the rat hippocampus. 6306230

1983