Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
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
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 Biomarker disease BEFREE The Leber Congenital Amaurosis-Linked Protein AIPL1 and Its Critical Role in Photoreceptors. 29721967 2018
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
0.700 Biomarker disease BEFREE Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy. 22412862 2012
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
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
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
0.700 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
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 GermlineCausalMutation disease ORPHANET Review and update on the molecular basis of Leber congenital amaurosis. 25685757 2015