Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
N-methyl-D-aspartate receptor
neurodevelopmental disorder with or without hyperkinetic movements and seizures |
| gptkbp:encodes |
Glutamate receptor ionotropic, NMDA 1
|
| gptkbp:Entrez_Gene_ID |
2902
|
| gptkbp:expressedIn |
brain
|
| gptkbp:hasTranscriptVariant |
multiple
|
| gptkbp:involvedIn |
memory
learning synaptic transmission |
| gptkbp:locatedOnChromosome |
9q34.3
|
| gptkbp:mutationAssociatedWith |
gptkb:intellectual_disability
epilepsy |
| gptkbp:OMIM |
138249
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Grin1
|
| gptkbp:product |
NMDA receptor subunit NR1
|
| gptkbp:UniProtID |
Q05586
|
| gptkbp:bfsParent |
gptkb:NMDA_receptor
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
GRIN1
|