Gene: RP2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.680 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.680 GeneticVariation disease BEFREE The majority of patients with X-linked RP have mutations in the retinitis pigmentosa GTPase regulator (RPGR) or RP2 genes, the protein products of which are both components of the connecting cilium and associated with distinct mechanisms of protein delivery to the outer segment. 27911705 2016
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.680 GeneticVariation disease LHGDN Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations. 17093403 2006
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.680 GeneticVariation disease BEFREE The retinitis pigmentosa-mutated RP2 protein exhibits exonuclease activity and translocates to the nucleus in response to DNA damage. 16457815 2006
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.680 GeneticVariation disease BEFREE Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations. 17093403 2006
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.680 GeneticVariation disease LHGDN Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes. 14566651 2003
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.680 GeneticVariation disease LHGDN A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. 11992260 2002
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.680 GeneticVariation disease LHGDN [Identification of a nonsense mutation causing X-linked RP2 in two Chinese families]. 11798852 2001
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.680 GeneticVariation disease BEFREE Two affected hemizygotes with retinitis pigmentosa associated with transversion mutations in codon 253 (Leu253Arg) of the RP2 gene and the obligate carriers were examined. 10634633 2000
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.680 GeneticVariation disease BEFREE This figure is comparable to the percentage of RP2 gene mutations that we have detected in our entire XLRP patient pool (10%-15%). 10480356 1999
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.680 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.680 GeneticVariation disease CLINVAR
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.680 GermlineCausalMutation disease ORPHANET
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.680 Biomarker disease HPO