Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | UNIPROT | In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors. | 26796962 | 2016 |
||||
|
0.700 | GeneticVariation | UNIPROT | Next-generation genetic testing for retinitis pigmentosa. | 22334370 | 2012 |
||||
|
0.700 | GeneticVariation | UNIPROT | Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations. | 19038374 | 2009 |
||||
|
0.700 | GeneticVariation | UNIPROT | Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. | 16799052 | 2006 |
||||
|
0.700 | GeneticVariation | UNIPROT | Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies. | 11485765 | 2001 |
||||
|
0.700 | GeneticVariation | UNIPROT | Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations. Mutations in brief no. 147. Online. | 10627133 | 1998 |
||||
|
0.700 | GeneticVariation | UNIPROT | A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration. | 7862413 | 1995 |
||||
|
0.700 | GeneticVariation | UNIPROT | A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP. | 8020945 | 1994 |
||||
|
0.700 | GeneticVariation | UNIPROT | Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree. | 1427912 | 1992 |
||||
|
0.700 | GeneticVariation | UNIPROT | Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. | 1684223 | 1991 |
||||
|
0.700 | GeneticVariation | UNIPROT | A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. | 1749427 | 1991 |