Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		0.700 CausalMutation CLINVAR

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C4693325
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE 		0.600 GeneticVariation CLINVAR

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation CLINVAR

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions 		0.100 GeneticVariation CLINVAR

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.100 CausalMutation CLINVAR

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.100 GeneticVariation CLINVAR

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 GeneticVariation CLINVAR

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C4693964
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITHOUT SEIZURES, AUTOSOMAL RECESSIVE
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITHOUT SEIZURES, AUTOSOMAL RECESSIVE 		0.100 CausalMutation CLINVAR

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C3280282
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT 		0.700 GeneticVariation CLINVAR Clinical application of whole-exome sequencing across clinical indications. 26633542

2016
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.130 GeneticVariation CLINVAR De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy. 28389307

2017
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy. 28389307

2017
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy. 28389307

2017
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy. 28389307

2017
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.130 GeneticVariation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.130 GeneticVariation CLINVAR Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 27164704

2016
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 27164704

2016
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 27164704

2016
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 27164704

2016
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.130 GeneticVariation CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861

2014
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861

2014
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. 25167861

2014