Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
0.700 GeneticVariation disease BEFREE The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations. 15249368 2004
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
0.700 GeneticVariation disease BEFREE Mutations in the aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) cause the blinding disease Leber congenital amaurosis (LCA). 15347646 2004
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
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
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
0.700 Biomarker disease BEFREE AIPL1, a protein implicated in Leber's congenital amaurosis, interacts with and aids in processing of farnesylated proteins. 14555765 2003
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
0.700 GeneticVariation disease BEFREE An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis. 12881340 2003
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
0.700 GeneticVariation disease BEFREE Mutations in the aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) gene have been found in patients with Leber congenital amaurosis (LCA), a severe, early-onset form of retinal degeneration. 12374762 2002
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
0.700 GeneticVariation disease BEFREE Mutations in AIPL1 cause Leber congenital amaurosis (LCA), the most severe form of inherited blindness in children; however, the function of this protein in normal vision remains unknown. 11420621 2001
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
0.700 CausalMutation disease CLINVAR Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. 10615133 2000
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
0.700 Biomarker disease GENOMICS_ENGLAND