Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62637012
rs62637012
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C1858386
Disease:
Leber Congenital Amaurosis 4 		0.800 GeneticVariation UNIPROT Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. 17724218 2007
dbSNP: rs62637012
rs62637012
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C1858386
Disease:
Leber Congenital Amaurosis 4 		0.800 GeneticVariation UNIPROT The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1. 12374762 2002
dbSNP: rs62637012
rs62637012
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C1858386
Disease:
Leber Congenital Amaurosis 4 		0.800 GeneticVariation UNIPROT Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. 10615133 2000
dbSNP: rs62637012
rs62637012
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C1858386
Disease:
Leber Congenital Amaurosis 4 		G 0.800 CausalMutation CLINVAR
dbSNP: rs62637014
rs62637014
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C0339527
Disease:
Leber Congenital Amaurosis 		T 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
dbSNP: rs1264794214
rs1264794214
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C1858386
Disease:
Leber Congenital Amaurosis 4 		G 0.700 CausalMutation CLINVAR The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6. 28973376 2017
dbSNP: rs1264794214
rs1264794214
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C1858386
Disease:
Leber Congenital Amaurosis 4 		G 0.700 CausalMutation CLINVAR Aryl Hydrocarbon Receptor-interacting Protein-like 1 Is an Obligate Chaperone of Phosphodiesterase 6 and Is Assisted by the γ-Subunit of Its Client. 27268253 2016
dbSNP: rs62637014
rs62637014
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C1858386
Disease:
Leber Congenital Amaurosis 4 		T 0.700 CausalMutation CLINVAR The Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor cilium. 25799540 2015
dbSNP: rs1264794214
rs1264794214
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C1858386
Disease:
Leber Congenital Amaurosis 4 		G 0.700 CausalMutation CLINVAR Interaction of aryl hydrocarbon receptor-interacting protein-like 1 with the farnesyl moiety. 23737531 2013
dbSNP: rs62637014
rs62637014
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C1858386
Disease:
Leber Congenital Amaurosis 4 		T 0.700 CausalMutation CLINVAR Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy. 22412862 2012
dbSNP: rs1264794214
rs1264794214
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C1858386
Disease:
Leber Congenital Amaurosis 4 		G 0.700 CausalMutation CLINVAR Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis. 21153841 2011
dbSNP: rs1264794214
rs1264794214
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C1858386
Disease:
Leber Congenital Amaurosis 4 		G 0.700 CausalMutation CLINVAR Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining. 20702822 2011
dbSNP: rs62637014
rs62637014
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C1858386
Disease:
Leber Congenital Amaurosis 4 		T 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
dbSNP: rs62637014
rs62637014
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C1858386
Disease:
Leber Congenital Amaurosis 4 		T 0.700 CausalMutation CLINVAR The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations. 15249368 2004
dbSNP: rs62637014
rs62637014
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C1858386
Disease:
Leber Congenital Amaurosis 4 		T 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
dbSNP: rs62637014
rs62637014
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C1858386
Disease:
Leber Congenital Amaurosis 4 		T 0.700 CausalMutation CLINVAR Prevalence of AIPL1 mutations in inherited retinal degenerative disease. 10873396 2000
dbSNP: rs62637014
rs62637014
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C0339527
Disease:
Leber Congenital Amaurosis 		T 0.700 CausalMutation CLINVAR Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. 10615133 2000
dbSNP: rs62637014
rs62637014
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C1858386
Disease:
Leber Congenital Amaurosis 4 		T 0.700 CausalMutation CLINVAR Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis. 10615133 2000
dbSNP: rs142326926
rs142326926
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C0339527
Disease:
Leber Congenital Amaurosis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs281865195
rs281865195
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C2751764
Disease:
CONE-ROD DYSTROPHY, AIPL1-RELATED (disorder) 		G 0.700 CausalMutation CLINVAR
dbSNP: rs281865195
rs281865195
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C2751763
Disease:
Retinitis Pigmentosa, Juvenile, Aipl1-Related 		G 0.700 CausalMutation CLINVAR
dbSNP: rs62637010
rs62637010
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C0339527
Disease:
Leber Congenital Amaurosis 		G 0.700 CausalMutation CLINVAR
dbSNP: rs62637011
rs62637011
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C0339527
Disease:
Leber Congenital Amaurosis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs62637012
rs62637012
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C0339527
Disease:
Leber Congenital Amaurosis 		G 0.700 CausalMutation CLINVAR
dbSNP: rs62637016
rs62637016
Entrez Id: 23746
Gene Symbol: AIPL1
AIPL1
CUI: C1858386
Disease:
Leber Congenital Amaurosis 4 		G 0.700 CausalMutation CLINVAR