Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:Leber_congenital_amaurosis
gptkb:GUCY2D |
| gptkbp:discoveredIn |
1997
|
| gptkbp:encodes |
gptkb:Retinal_guanylyl_cyclase_1
|
| gptkbp:fullName |
gptkb:Leber_congenital_amaurosis_1
|
| https://www.w3.org/2000/01/rdf-schema#label |
LCA1
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
17p13.1
|
| gptkbp:mutationAssociatedWith |
congenital blindness
|
| gptkbp:OMIM |
204000
|
| gptkbp:bfsParent |
gptkb:Leica_Camera
|
| gptkbp:bfsLayer |
6
|