| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | Biomarker | disease | BEFREE | The aim of this study was to investigate the interaction and co-localization of novel interacting proteins with the Leber congenital amaurosis (LCA) associated protein aryl hydrocarbon receptor interacting protein-like 1 (AIPL1). | 25799540 | 2015 | ||||
|
0.700 | GermlineCausalMutation | disease | ORPHANET | Review and update on the molecular basis of Leber congenital amaurosis. | 25685757 | 2015 | ||||
|
0.700 | GeneticVariation | disease | BEFREE | Mutations in the primate-specific proline-rich domain (PRD) of aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) are thought to cause Leber congenital amaurosis or dominant cone-rod dystrophy. | 26139345 | 2015 | ||||
|
0.700 | GeneticVariation | disease | BEFREE | Malfunction of mutant AIPL1 proteins triggers a severe form of Leber congenital amaurosis and leads to blindness. | 28739921 | 2017 | ||||
|
0.700 | GeneticVariation | disease | BEFREE | Biallelic mutations in the photoreceptor-expressed aryl hydrocarbon receptor interacting protein-like 1 (AIPL1) are associated with autosomal recessive Leber congenital amaurosis (LCA), the most severe form of inherited retinopathy in early childhood. | 28973376 | 2017 | ||||
|
0.700 | Biomarker | disease | BEFREE | The Leber Congenital Amaurosis-Linked Protein AIPL1 and Its Critical Role in Photoreceptors. | 29721967 | 2018 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. | 30718709 | 2019 |