| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Retinitis Pigmentosa 20
|
0.700 | CausalMutation | CLINVAR | Autofluorescence imaging with near-infrared excitation:normalization by reflectance to reduce signal from choroidal fluorophores. | 26024124 | 2015 | |||||
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
0.700 | CausalMutation | CLINVAR | Autofluorescence imaging with near-infrared excitation:normalization by reflectance to reduce signal from choroidal fluorophores. | 26024124 | 2015 | |||||
Retinitis Pigmentosa 20
|
0.700 | CausalMutation | CLINVAR | Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. | 21911650 | 2012 | |||||
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
0.700 | CausalMutation | CLINVAR | Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. | 21911650 | 2012 | |||||
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
0.700 | CausalMutation | CLINVAR | Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in Israel. | 20604683 | 2010 | |||||
Retinitis Pigmentosa 20
|
0.700 | CausalMutation | CLINVAR | Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. | 21151602 | 2010 | |||||
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
0.700 | CausalMutation | CLINVAR | Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. | 21151602 | 2010 | |||||
Retinitis Pigmentosa 20
|
0.700 | CausalMutation | CLINVAR | Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in Israel. | 20604683 | 2010 | |||||
Retinitis Pigmentosa 20
|
0.700 | CausalMutation | CLINVAR | Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. | 17724218 | 2007 | |||||
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
0.700 | CausalMutation | CLINVAR | Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. | 17724218 | 2007 | |||||
Retinitis Pigmentosa 20
|
0.700 | CausalMutation | CLINVAR | Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. | 15024725 | 2004 | |||||
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
0.700 | CausalMutation | CLINVAR | Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. | 15024725 | 2004 | |||||
Leber Congenital Amaurosis
|
0.700 | CausalMutation | CLINVAR |