Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:Leber_congenital_amaurosis
retinal dystrophy CRB1 |
| gptkbp:encodes |
CRB1 protein
|
| gptkbp:fullName |
Leber congenital amaurosis 8
|
| https://www.w3.org/2000/01/rdf-schema#label |
LCA8
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
chromosome 1
|
| gptkbp:mutationAssociatedWith |
vision loss
|
| gptkbp:OMIM |
608133
|
| gptkbp:bfsParent |
gptkb:CRB1_gene
|
| gptkbp:bfsLayer |
7
|