Gene: RP1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.500 CausalMutation disease CLINVAR Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. 26497376 2015
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.500 GeneticVariation disease BEFREE Mutations in the RP1 gene can cause retinitis pigmentosa. 25088982 2014
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.500 CausalMutation disease CLINVAR Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. 24265693 2013
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.500 GeneticVariation disease LHGDN Variants of RP1 gene in Chinese patients with autosomal dominant retinitis pigmentosa. 18347624 2008
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.500 GeneticVariation disease LHGDN Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India. 18552984 2008
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.500 GeneticVariation disease LHGDN Novel variants in the hotspot region of RP1 in South African patients with retinitis pigmentosa. 16568030 2006
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.500 CausalMutation disease CLINVAR Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population. 16597330 2006
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.500 GeneticVariation disease BEFREE More than 20 mutations associated with retinitis pigmentosa (RP) have been identified in the retinitis pigmentosa 1 (RP1) gene, all of them leading to the production of a truncated protein without 50-70% of the C-terminal of the RP1 protein. 15933747 2006
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.500 GeneticVariation disease BEFREE Most of the mutations reported in the RP1 gene associated with adRP are expected to encode mutant truncated proteins that are approximately one third or half of the size of wild type protein. 16597330 2006
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.500 GeneticVariation disease LHGDN Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa. 15863674 2005
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.500 Biomarker disease GENOMICS_ENGLAND Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa. 15863674 2005
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.500 GeneticVariation disease LHGDN Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families. 15980210 2005
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.500 GeneticVariation disease BEFREE De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa. 12882812 2003
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.500 GeneticVariation disease LHGDN De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa. 12882812 2003
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.500 GeneticVariation disease BEFREE To survey patients with dominant retinitis pigmentosa (RP) for mutations in the RP1 gene to determine the spectrum of dominant mutations in this gene, to estimate the proportion of dominant RP caused by this gene, and to determine whether the clinical features of patients with RP1 mutations differ from features of those with rhodopsin mutations. 11527933 2001
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.500 CausalMutation disease CLINVAR RP1 protein truncating mutations predominate at the RP1 adRP locus. 11095597 2000
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.500 CausalMutation disease CLINVAR Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. 10484783 1999
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.500 CausalMutation disease CLINVAR Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. 10391211 1999
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.500 GeneticVariation disease CLINVAR