| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | CausalMutation | disease | CLINVAR | Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. | 10615133 | 2000 | ||||
|
0.700 | GeneticVariation | disease | BEFREE | AIPL1 mutations cause the severe inherited blindness Leber congenital amaurosis (LCA). | 18408180 | 2008 | ||||
|
0.700 | GeneticVariation | disease | BEFREE | Defects in the photoreceptor-specific gene encoding aryl hydrocarbon receptor interacting protein like-1 (AIPL1) are linked to blinding diseases, including Leber congenital amaurosis (LCA) and cone dystrophy. | 24108108 | 2014 | ||||
|
0.700 | GeneticVariation | disease | BEFREE | Mutations in Aryl hydrocarbon receptor interacting protein like-1 (AIPL1) are linked to Leber congenital amaurosis (LCA), a severe blinding disease that occurs in early childhood. | 24664679 | 2014 | ||||
|
0.700 | GeneticVariation | disease | BEFREE | An unusual retinal vascular morphology in an enucleated eye from a patient with Leber congenital amaurosis (LCA) has been associated with a mutation in AIPL1. | 16052170 | 2005 | ||||
|
0.700 | Biomarker | disease | BEFREE | Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors. | 19299492 | 2009 | ||||
|
0.700 | GeneticVariation | disease | BEFREE | Leber congenital amaurosis (LCA) caused by mutations in Aryl hydrocarbon receptor interacting protein like-1 (Aipl1) is a severe form of childhood blindness. | 20042464 | 2010 | ||||
|
0.700 | GeneticVariation | disease | BEFREE | Patients with mutations in AIPL1 may present with Leber congenital amaurosis and residual ERGs characterized by slow insensitive scotopic responses. | 21900377 | 2011 | ||||
|
0.700 | GeneticVariation | disease | BEFREE | Mutations in AIPL1 cause Leber congenital amaurosis, a severe early-onset retinopathy that leads to visual impairment in infants. | 15365173 | 2004 |