Statements (19)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeName |
LRRN6A
leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 |
gptkbp:associatedWith |
retinal function
|
gptkbp:chromosomeArm |
6q24.2
|
gptkbp:encodes |
Leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 protein
|
gptkbp:Entrez_Gene_ID |
ENSG00000112282
221914 |
gptkbp:expressedIn |
retina
|
gptkbp:geneType |
protein-coding
|
gptkbp:HGNC_ID |
HGNC:21041
|
https://www.w3.org/2000/01/rdf-schema#label |
LRIT1 gene
|
gptkbp:locatedOnChromosome |
gptkb:chromosome_6
|
gptkbp:mutationAssociatedWith |
congenital stationary night blindness
|
gptkbp:OMIM |
615004
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:UniProtID |
Q8N6F1
|
gptkbp:bfsParent |
gptkb:Lysine-rich_tail-interacting_protein
|
gptkbp:bfsLayer |
7
|