Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.500 CausalMutation CLINVAR Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. 26497376

2015
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.500 CausalMutation 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
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.500 CausalMutation 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
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.500 CausalMutation CLINVAR RP1 protein truncating mutations predominate at the RP1 adRP locus. 11095597

2000
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.500 CausalMutation CLINVAR Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. 10484783

1999
Entrez Id: 6101
Gene Symbol: RP1
RP1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.500 CausalMutation 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
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.500 GeneticVariation CLINVAR