Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | GRIN1 | Human | Adams-Oliver Syndrome 5 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Adams-Oliver syndrome 5 | ClinVar | PMID:16025100 more ... | GRIN1 | Human | autism spectrum disorder | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorders | ClinVar | PMID:25741868 and PMID:28492532 | GRIN1 | Human | autistic disorder | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | | GRIN1 | Human | autistic disorder | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autistic behavior | ClinVar | PMID:25741868 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:21376300 and PMID:27164704 | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:25741868 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:23454977 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:25741868 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:25741868 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:28492532 and PMID:34884460 | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:18414213 and PMID:28492532 | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:16199547 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:25864721 and PMID:27164704 | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:17576681 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:28492532 and PMID:29365063 | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:27164704 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:25741868 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:27164704 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:25741868 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:17576681 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:10201407 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:27164704 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mental retardation and autosomal dominant 8 | ClinVar | PMID:25741868 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mental retardation and autosomal dominant 8 | ClinVar | PMID:28492532 and PMID:33333793 | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:25741868 and PMID:35887114 | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:25741868 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:25741868 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:22833210 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mental retardation and autosomal dominant 8 | ClinVar | PMID:25741868 and PMID:31219694 | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:16826528 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:17576681 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:10197535 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mental retardation and autosomal dominant 8 | ClinVar | PMID:17576681 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:25590979 and PMID:25741868 | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:25741868 and PMID:27164704 | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:25640679 and PMID:28492532 | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:25741868 and PMID:28228639 | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:25741868 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:24088041 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:25326635 and PMID:25741868 | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:25326635 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:25741868 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:21376300 | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:25741868 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:26467025 and PMID:28492532 | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:17576681 more ... | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:25864721 | GRIN1 | Human | autosomal dominant intellectual developmental disorder 8 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal dominant | ClinVar | PMID:27164704 | GRIN1 | Human | autosomal dominant nocturnal frontal lobe epilepsy 5 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5 | ClinVar | PMID:28492532 | GRIN1 | Human | benign epilepsy with centrotemporal spikes | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rolandic epilepsy | ClinVar | PMID:29358611 | GRIN1 | Human | developmental and epileptic encephalopathy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome | ClinVar | PMID:25741868 and PMID:28492532 | GRIN1 | Human | developmental and epileptic encephalopathy 101 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 101 | ClinVar | PMID:25741868 | GRIN1 | Human | developmental and epileptic encephalopathy 101 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 101 | ClinVar | PMID:25741868 and PMID:28492532 | GRIN1 | Human | developmental and epileptic encephalopathy 101 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 101 | ClinVar | PMID:25741868 and PMID:31219694 | GRIN1 | Human | developmental and epileptic encephalopathy 101 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 101 | ClinVar | PMID:34611970 | GRIN1 | Human | developmental and epileptic encephalopathy 101 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 101 | ClinVar | PMID:27164704 | GRIN1 | Human | developmental and epileptic encephalopathy 14 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 14 | ClinVar | PMID:19264732 more ... | GRIN1 | Human | developmental and epileptic encephalopathy 14 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:28492532 | GRIN1 | Human | developmental and epileptic encephalopathy 14 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 14 | ClinVar | PMID:16025100 more ... | GRIN1 | Human | Developmental Disabilities | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25741868 more ... | GRIN1 | Human | epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:24088041 more ... | GRIN1 | Human | epilepsy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epilepsy | ClinVar | | GRIN1 | Human | Febrile Seizures | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Febrile seizures | ClinVar | PMID:25741868 more ... | GRIN1 | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... | GRIN1 | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:26467025 and PMID:28492532 | GRIN1 | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | GRIN1 | Human | genetic disease | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:17576681 more ... | GRIN1 | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:17576681 more ... | GRIN1 | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10201407 more ... | GRIN1 | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... | GRIN1 | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:22833210 more ... | GRIN1 | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10197535 more ... | GRIN1 | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:27164704 | GRIN1 | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:24088041 more ... | GRIN1 | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | GRIN1 | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... | GRIN1 | Human | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:15970596 | GRIN1 | Human | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | GRIN1 | Human | Hemimegalencephaly | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hemimegalencephaly | ClinVar | PMID:25741868 | GRIN1 | Human | intellectual disability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25167861 | GRIN1 | Human | intellectual disability | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | GRIN1 | Human | intellectual disability | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: intellectual disabilities | ClinVar | PMID:25741868 and PMID:28492532 | GRIN1 | Human | intellectual disability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: intellectual disabilities | ClinVar | PMID:10201407 more ... | GRIN1 | Human | intellectual disability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | GRIN1 | Human | intellectual disability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: intellectual disabilities | ClinVar | PMID:25741868 more ... | GRIN1 | Human | intellectual disability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: intellectual disabilities | ClinVar | PMID:25741868 more ... | GRIN1 | Human | Joubert syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar | PMID:16025100 more ... | GRIN1 | Human | Kleefstra syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kleefstra syndrome 1 | ClinVar | PMID:19264732 more ... | GRIN1 | Human | Kleefstra syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kleefstra syndrome 1 | ClinVar | PMID:16826528 more ... | GRIN1 | Human | Kleefstra syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kleefstra syndrome 1 | ClinVar | PMID:22318994 more ... | GRIN1 | Human | Kleefstra syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kleefstra syndrome 1 | ClinVar | PMID:25741868 | GRIN1 | Human | Kleefstra syndrome 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kleefstra syndrome 1 | ClinVar | PMID:26833960 and PMID:28492532 | GRIN1 | Human | Language Development Disorders | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Expressive language delay | ClinVar | PMID:25741868 more ... | GRIN1 | Human | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:28492532 | GRIN1 | Human | Macrocephaly | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Macrocephaly | ClinVar | PMID:25741868 more ... | GRIN1 | Human | Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES and AUTOSOMAL RECESSIVE | ClinVar | PMID:25741868 more ... | GRIN1 | Human | Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 | GRIN1 | Human | Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal recessive | ClinVar | PMID:25741868 and PMID:28492532 | GRIN1 | Human | Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal recessive | ClinVar | PMID:25741868 more ... | GRIN1 | Human | Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures and autosomal recessive | ClinVar | PMID:22833210 more ... | GRIN1 | Human | Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES and AUTOSOMAL RECESSIVE | ClinVar | PMID:25741868 more ... | GRIN1 | Human | Neurodevelopmental Disorders | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25326635 more ... | GRIN1 | Human | primary coenzyme Q10 deficiency 7 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | ClinVar | PMID:28492532 | GRIN1 | Human | prostate cancer | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar | PMID:23265383 | GRIN1 | Human | Rafiq syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rafiq syndrome | ClinVar | PMID:28492532 | GRIN1 | Human | Rafiq syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rafiq syndrome | ClinVar | PMID:24566669 more ... | GRIN1 | Human | tuberous sclerosis 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tuberous sclerosis 1 | ClinVar | PMID:28492532 | |
 |
Welcome {{ username}}
Message Center
{{ messageCount }} Messages
Watched Genes
{{$index + 1}}. {{ watchedObject.symbol }} (RGD ID:{{watchedObject.rgdId}})
Watched Ontology Terms
{{gene.symbol}}: {{ gene.description }}
|
| You must be logged in to use this feature |
| {{ loginError }} |
|
|
Analyze GeneStrainQTL List |
 Gene Annotator (Functional Annotation) unavailable |
 Gene Annotator (Annotation Distribution) unavailable |
 Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
 InterViewer (Protein-Protein Interactions) unavailable |
 Gviewer (Genome Viewer) unavailable |
 Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
 Gene Annotator (Annotation Comparison) unavailable |
 OLGA (Gene List Generator) unavailable |
 |
Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
 MOET (Multi-Ontology Enrichement) unavailable |
 GOLF (Gene-Ortholog Location Finder) unavailable |
|
MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
Imported Disease Annotations - CTD
Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Molecular Pathway Annotations Click to see Annotation Detail View
RGD Manual Annotations
Imported Annotations - SMPDB
Imported Annotations - KEGG (archival)
Phenotype Annotations Click to see Annotation Detail View
Imported Human Phenotype Annotations - HPO
Imported Human Phenotype Annotations - ClinVar
Disease Annotations
Click to see Annotation Detail View
Gene-Chemical Interaction Annotations
Click to see Annotation Detail View
|
|
|
Gene Ontology Annotations
Click to see Annotation Detail View
Biological Process
|
|
|
Cellular Component
|
|
|
Molecular Function
|
|
|
Molecular Pathway Annotations
Click to see Annotation Detail View
|
|
|
Phenotype Annotations
Click to see Annotation Detail View
Human Phenotype
|
|
|
References
References - curated
| # | Reference Title | Reference Citation |
| 1. | CaMKII regulation in information processing and storage. | Coultrap SJ and Bayer KU, Trends Neurosci. 2012 Oct;35(10):607-18. doi: 10.1016/j.tins.2012.05.003. Epub 2012 Jun 19. |
| 2. | NMDA receptor subunits change in the prefrontal cortex of pure-opioid and multi-drug abusers: a post-mortem study. | Daneshparvar H, etal., Eur Arch Psychiatry Clin Neurosci. 2019 Apr;269(3):309-315. doi: 10.1007/s00406-018-0900-8. Epub 2018 May 16. |
| 3. | Early modifications in N-methyl-D-aspartate receptor subunit mRNA levels in an oxygen and glucose deprivation model using rat hippocampal brain slices. | Dos-Anjos S, etal., Neuroscience. 2009 Dec 15;164(3):1119-26. Epub 2009 Sep 15. |
| 4. | GOAs Human GO annotations | GOA_HUMAN data from the GO Consortium |
| 5. | Prenatal development of NMDA receptor composition and function in trigeminal neurons. | Ishihama K, etal., Arch Histol Cytol. 2005 Dec;68(4):321-35. |
| 6. | CaMKII-dependent dendrite ramification and spine generation promote spatial training-induced memory improvement in a rat model of sporadic Alzheimer's disease. | Jiang X, etal., Neurobiol Aging. 2015 Feb;36(2):867-76. doi: 10.1016/j.neurobiolaging.2014.10.018. Epub 2014 Oct 16. |
| 7. | Stroke patients develop antibodies that react with components of N-methyl-D-aspartate receptor subunit 1 in proportion to lesion size. | Kalev-Zylinska ML, etal., Stroke. 2013 Aug;44(8):2212-9. doi: 10.1161/STROKEAHA.113.001235. Epub 2013 May 30. |
| 8. | Pathological reorganization of NMDA receptors subunits and postsynaptic protein PSD-95 distribution in Alzheimer's disease. | Leuba G, etal., Curr Alzheimer Res. 2014 Jan;11(1):86-96. |
| 9. | Long Noncoding RNA FosDT Promotes Ischemic Brain Injury by Interacting with REST-Associated Chromatin-Modifying Proteins. | Mehta SL, etal., J Neurosci. 2015 Dec 16;35(50):16443-9. doi: 10.1523/JNEUROSCI.2943-15.2015. |
| 10. | Differential alterations of neocortical GluN receptor subunits in patients with mixed subcortical ischemic vascular dementia and Alzheimer's disease. | Mohamed NE, etal., J Alzheimers Dis. 2015;44(2):431-7. doi: 10.3233/JAD-141764. |
| 11. | Heteromeric NMDA receptors: molecular and functional distinction of subtypes. | Monyer H, etal., Science 1992 May 22;256(5060):1217-21. |
| 12. | Morphine Dependence is Attenuated by Treatment of 3,4,5-Trimethoxy Cinnamic Acid in Mice and Rats. | Moon S, etal., Neurochem Res. 2019 Apr;44(4):874-883. doi: 10.1007/s11064-019-02720-9. Epub 2019 Jan 10. |
| 13. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 14. | Online Mendelian Inheritance in Man, OMIM (TM). | Online Mendelian Inheritance in Man, OMIM (TM). |
| 15. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 16. | SMPDB Annotation Import Pipeline | Pipeline to import SMPDB annotations from SMPDB into RGD |
| 17. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 18. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 19. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
| 20. | Intrauterine growth restriction due to uteroplacental insufficiency decreased white matter and altered NMDAR subunit composition in juvenile rat hippocampi. | Schober ME, etal., Am J Physiol Regul Integr Comp Physiol. 2009 Mar;296(3):R681-92. Epub 2009 Jan 14. |
| 21. | Object-based analysis of astroglial reaction and astrocyte subtype morphology after ischemic brain injury. | Wagner DC, etal., Acta Neurobiol Exp (Wars). 2013;73(1):79-87. |
| 22. | Hippocampal NMDAR-Wnt-Catenin signaling disrupted with cognitive deficits in adolescent offspring exposed to prenatal hypoxia. | Wei B, etal., Brain Res. 2016 Jan 15;1631:157-64. doi: 10.1016/j.brainres.2015.11.041. Epub 2015 Dec 2. |
| 23. | Polymorphisms in the N-methyl-D-aspartate receptor 1 and 2B subunits are associated with alcoholism-related traits. | Wernicke C, etal., Biol Psychiatry. 2003 Nov 1;54(9):922-8. |
Additional References at PubMed
| PMID:7622053 | PMID:7679115 | PMID:7681588 | PMID:7685113 | PMID:7695237 | PMID:7926821 | PMID:8139656 | PMID:8316301 | PMID:8406025 | PMID:8406459 | PMID:8563977 | PMID:8581564 |
| PMID:8615909 | PMID:8625412 | PMID:8665664 | PMID:8724036 | PMID:8768735 | PMID:8783260 | PMID:8804048 | PMID:8821747 | PMID:8822372 | PMID:8845955 | PMID:8889548 | PMID:8955056 |
| PMID:9009191 | PMID:9030583 | PMID:9231706 | PMID:9425014 | PMID:9481670 | PMID:9482789 | PMID:9489750 | PMID:9502803 | PMID:9620802 | PMID:9651389 | PMID:9670010 | PMID:9694809 |
| PMID:9721050 | PMID:9728925 | PMID:9745929 | PMID:9835392 | PMID:9952395 | PMID:10049997 | PMID:10197777 | PMID:10373510 | PMID:10448428 | PMID:10480938 | PMID:10518580 | PMID:10555109 |
| PMID:10749211 | PMID:10862698 | PMID:11109007 | PMID:11136979 | PMID:11140673 | PMID:11140838 | PMID:11160393 | PMID:11279200 | PMID:11483648 | PMID:11506858 | PMID:11588171 | PMID:11606043 |
| PMID:11754835 | PMID:11803122 | PMID:11897110 | PMID:11937501 | PMID:12008020 | PMID:12068077 | PMID:12082569 | PMID:12191494 | PMID:12210277 | PMID:12363394 | PMID:12391275 | PMID:12408866 |
| PMID:12414113 | PMID:12610658 | PMID:12646920 | PMID:12679240 | PMID:12707933 | PMID:12746393 | PMID:12753088 | PMID:12775422 | PMID:12815021 | PMID:12893641 | PMID:14529713 | PMID:14575242 |
| PMID:14602821 | PMID:14622581 | PMID:14644469 | PMID:14732708 | PMID:14970236 | PMID:14973229 | PMID:15003177 | PMID:15030408 | PMID:15030493 | PMID:15069201 | PMID:15255944 | PMID:15265015 |
| PMID:15317856 | PMID:15338240 | PMID:15448144 | PMID:15531111 | PMID:15564900 | PMID:15635650 | PMID:15721239 | PMID:15749123 | PMID:15841096 | PMID:15888440 | PMID:16140270 | PMID:16157279 |
| PMID:16189506 | PMID:16272960 | PMID:16289038 | PMID:16332682 | PMID:16476413 | PMID:16481105 | PMID:16489129 | PMID:16510730 | PMID:16697675 | PMID:16767099 | PMID:16969270 | PMID:17047094 |
| PMID:17255096 | PMID:17284422 | PMID:17360663 | PMID:17459877 | PMID:17506933 | PMID:17526495 | PMID:17728671 | PMID:17997397 | PMID:18068304 | PMID:18182392 | PMID:18233995 | PMID:18296432 |
| PMID:18445116 | PMID:18606955 | PMID:18644839 | PMID:18792810 | PMID:18990687 | PMID:18991843 | PMID:19020013 | PMID:19036954 | PMID:19095845 | PMID:19156168 | PMID:19328558 | PMID:19422642 |
| PMID:19487695 | PMID:19488045 | PMID:19526283 | PMID:19556342 | PMID:19602553 | PMID:19635471 | PMID:19784770 | PMID:19811606 | PMID:19874574 | PMID:20007519 | PMID:20097831 | PMID:20237496 |
| PMID:20414717 | PMID:20438806 | PMID:20468064 | PMID:20634195 | PMID:20722663 | PMID:20848605 | PMID:20974228 | PMID:21376300 | PMID:21491143 | PMID:21670103 | PMID:21753020 | PMID:21873635 |
| PMID:21883149 | PMID:21948112 | PMID:22040728 | PMID:22114277 | PMID:22196339 | PMID:22300668 | PMID:22354721 | PMID:22375001 | PMID:22383529 | PMID:22448134 | PMID:22486492 | PMID:22544902 |
| PMID:22552781 | PMID:22711533 | PMID:22726567 | PMID:22833210 | PMID:22889411 | PMID:22937865 | PMID:22940423 | PMID:22952988 | PMID:23070074 | PMID:23267846 | PMID:23271275 | PMID:23604598 |
| PMID:23621516 | PMID:23665428 | PMID:23726511 | PMID:23840674 | PMID:23864692 | PMID:23880023 | PMID:23933820 | PMID:23999527 | PMID:24086760 | PMID:24227730 | PMID:24272827 | PMID:24292102 |
| PMID:24655651 | PMID:24739951 | PMID:25017909 | PMID:25232120 | PMID:25431428 | PMID:25613138 | PMID:25683482 | PMID:25760043 | PMID:25864721 | PMID:26013316 | PMID:26253177 | PMID:26584860 |
| PMID:26819771 | PMID:26875626 | PMID:26919761 | PMID:27164704 | PMID:27443784 | PMID:27596138 | PMID:27831563 | PMID:28051072 | PMID:28095420 | PMID:28105280 | PMID:28126851 | PMID:28228639 |
| PMID:28244984 | PMID:28262924 | PMID:28298427 | PMID:28378791 | PMID:28389307 | PMID:28702665 | PMID:29057721 | PMID:29194067 | PMID:29339073 | PMID:29365063 | PMID:29676528 | PMID:29921713 |
| PMID:29987050 | PMID:30200940 | PMID:30214040 | PMID:30482728 | PMID:30590034 | PMID:30704411 | PMID:30776697 | PMID:31025605 | PMID:31219694 | PMID:31429998 | PMID:31444392 | PMID:31512412 |
| PMID:31875540 | PMID:32289863 | PMID:32814053 | PMID:33023061 | PMID:33025395 | PMID:33122756 | PMID:33237434 | PMID:33248694 | PMID:33359543 | PMID:33491170 | PMID:33773999 | PMID:33961781 |
| PMID:33969428 | PMID:34100982 | PMID:34227748 | PMID:34321660 | PMID:34592350 | PMID:34666996 | PMID:34689535 | PMID:34726335 | PMID:34781056 | PMID:34840971 | PMID:34884460 | PMID:35393335 |
| PMID:36128677 | PMID:36309015 | PMID:36543183 | PMID:36544563 | PMID:36688959 | PMID:36959261 | PMID:37000222 | PMID:37142655 | PMID:37248111 | PMID:37686003 | PMID:37734923 | PMID:38538865 |
| PMID:38598639 | PMID:38836461 |
Genomics
Comparative Map Data
| GRIN1 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Grin1 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Grin1 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Grin1 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GRIN1 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GRIN1 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Grin1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GRIN1 (Sus scrofa - pig) |
No map positions available. | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| GRIN1 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Grin1 (Heterocephalus glaber - naked mole-rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Variants
.
Variants in GRIN1
957 total Variants 
|