Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:Leber_congenital_amaurosis
gptkb:CEP290 retinal dystrophy |
| gptkbp:discoveredIn |
2006
|
| gptkbp:fullName |
gptkb:Leber_congenital_amaurosis_10
|
| gptkbp:hasPhenotype |
nystagmus
amaurosis photophobia severe visual impairment |
| gptkbp:hasTherapy |
gene therapy
antisense oligonucleotide therapy |
| https://www.w3.org/2000/01/rdf-schema#label |
LCA10
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_6
|
| gptkbp:mutationAssociatedWith |
missense mutation
nonsense mutation |
| gptkbp:OMIM |
611755
|
| gptkbp:relatedClinicalTrial |
NCT03140969
|
| gptkbp:bfsParent |
gptkb:Leber_congenital_amaurosis_10
|
| gptkbp:bfsLayer |
7
|