| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
RETINITIS PIGMENTOSA 3
|
0.700 | GeneticVariation | UNIPROT | C2 domains as protein-protein interaction modules in the ciliary transition zone. | 24981858 | 2014 | |||||
RETINITIS PIGMENTOSA 3
|
0.700 | GeneticVariation | UNIPROT | X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. | 12657579 | 2003 | |||||
RETINITIS PIGMENTOSA 3
|
0.700 | GeneticVariation | UNIPROT | RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. | 14564670 | 2003 | |||||
RETINITIS PIGMENTOSA 3
|
0.700 | GeneticVariation | UNIPROT | A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. | 11992260 | 2002 | |||||
RETINITIS PIGMENTOSA 3
|
0.700 | GeneticVariation | UNIPROT | Five novel RPGR mutations in families with X-linked retinitis pigmentosa. | 11180598 | 2001 | |||||
RETINITIS PIGMENTOSA 3
|
0.700 | GeneticVariation | UNIPROT | Novel mutations of the RPGR gene in RP3 families. | 10737996 | 2000 | |||||
RETINITIS PIGMENTOSA 3
|
0.700 | GeneticVariation | UNIPROT | X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. | 10937588 | 2000 | |||||
RETINITIS PIGMENTOSA 3
|
0.700 | GeneticVariation | UNIPROT | Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15. | 10970770 | 2000 | |||||
RETINITIS PIGMENTOSA 3
|
0.700 | GeneticVariation | UNIPROT | Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. | 10932196 | 2000 | |||||
RETINITIS PIGMENTOSA 3
|
0.700 | GeneticVariation | UNIPROT | Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa. | 10482958 | 1999 | |||||
RETINITIS PIGMENTOSA 3
|
0.700 | GeneticVariation | UNIPROT | X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60. | 9855162 | 1998 | |||||
RETINITIS PIGMENTOSA 3
|
0.700 | GeneticVariation | UNIPROT | Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. | 9399904 | 1997 | |||||
RETINITIS PIGMENTOSA 3
|
0.700 | GeneticVariation | UNIPROT | A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). | 8673101 | 1996 | |||||
RETINITIS PIGMENTOSA 3
|
0.700 | GeneticVariation | UNIPROT | Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. | 8817343 | 1996 |