rs62637014, AIPL1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Leber Congenital Amaurosis 4
CUI: C1858386
Disease: Leber Congenital Amaurosis 4
0.700 CausalMutation CLINVAR The Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor cilium. 25799540 2015
Leber Congenital Amaurosis 4
CUI: C1858386
Disease: Leber Congenital Amaurosis 4
0.700 CausalMutation CLINVAR Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy. 22412862 2012
Leber Congenital Amaurosis 4
CUI: C1858386
Disease: Leber Congenital Amaurosis 4
0.700 CausalMutation CLINVAR Evaluation of Italian patients with leber congenital amaurosis due to AIPL1 mutations highlights the potential applicability of gene therapy. 21474771 2011
Leber Congenital Amaurosis 4
CUI: C1858386
Disease: Leber Congenital Amaurosis 4
0.700 CausalMutation CLINVAR The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations. 15249368 2004
Leber Congenital Amaurosis 4
CUI: C1858386
Disease: Leber Congenital Amaurosis 4
0.700 CausalMutation CLINVAR The Leber congenital amaurosis protein AIPL1 modulates the nuclear translocation of NUB1 and suppresses inclusion formation by NUB1 fragments. 15347646 2004
Leber Congenital Amaurosis 4
CUI: C1858386
Disease: Leber Congenital Amaurosis 4
0.700 CausalMutation CLINVAR Prevalence of AIPL1 mutations in inherited retinal degenerative disease. 10873396 2000
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
0.700 CausalMutation CLINVAR Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. 10615133 2000
Leber Congenital Amaurosis 4
CUI: C1858386
Disease: Leber Congenital Amaurosis 4
0.700 CausalMutation CLINVAR Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. 10615133 2000