Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.400 GeneticVariation disease BEFREE We identified an Israeli family with semi-dominant XLRP due to a missense mutation (p.G275S) in the RPGR gene. 17480003 2007
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.400 GeneticVariation disease BEFREE A novel de novo frameshift mutation of RPGR ORF15 is associated with X-linked retinitis pigmentosa in a Chinese family. 17893654 2007
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.400 Biomarker disease BEFREE The proportion of RP2-mediated XLRP in the Danish population is higher and the proportion of RPGR-ORF15 is lower than reported in other studies. 17724181 2007
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.400 GeneticVariation disease BEFREE Clinical research into mutations of the RPGR gene showed that lack of either the RCC1-like domain of the ORF15 causes X-linked retinitis pigmentosa. 17249551 2006
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.400 GeneticVariation disease BEFREE Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa. 16936086 2006
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.400 GeneticVariation disease BEFREE Rod and cone opsin mislocalization in an autopsy eye from a carrier of X-linked retinitis pigmentosa with a Gly436Asp mutation in the RPGR gene. 16935610 2006
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.400 GeneticVariation disease BEFREE This report expands the clinical heterogeneity spectrum caused by RPGR mutations and our knowledge concerning the molecular pathologic condition that pertains to Coats'-like RP. 16387007 2006
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.400 Biomarker disease BEFREE X-linked retinitis pigmentosa type 3 (XlRP3) accounts up to 14% of all RP cases, higher than any other single RP locus identified to date, and considered to be the most severe of all RP cases. 16244324 2005
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.400 GeneticVariation disease BEFREE It is the first report of a macrodeletion that spans the entire RCC1-like domain of RPGR in X-linked retinitis pigmentosa patients, and suggests that loss of function of this domain disrupts the function of RPGR in human retina. 16052169 2005
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.400 GeneticVariation disease BEFREE Exon ORF15 mutations in XLRP patients were associated with the ancestral allele in 75% of affected cases. 16273303 2005
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.400 GeneticVariation disease BEFREE Eleven carriers from two families with XLRP and mutations in RPGR underwent clinical examination including fundus photography, AF, full-field electroretinography, Goldmann kinetic perimetry and two-colour threshold perimetry (2CT perimetry). 15173948 2004
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.400 GeneticVariation disease BEFREE A total of seven mutations in the RP2 and RPGR genes have been discovered so far in Swedish XLRP families. 14566651 2003
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.400 GeneticVariation disease BEFREE 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
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.400 GeneticVariation disease BEFREE RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. 14564670 2003
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.400 Biomarker disease BEFREE Analysis of RPGR in a South African family with X-linked retinitis pigmentosa: research and diagnostic implications. 12859409 2003
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.400 GeneticVariation disease BEFREE Mutations of RPGR in X-linked retinitis pigmentosa (RP3). 11968081 2002
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.400 GeneticVariation disease BEFREE Two novel mutations of the retinitis pigmentosa GTPase regulator gene in two Chinese families with X-linked retinitis pigmentosa. 12123547 2002
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.400 GeneticVariation disease BEFREE Ten novel ORF15 mutations confirm mutational hot spot in the RPGR gene in European patients with X-linked retinitis pigmentosa. 12402343 2002
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.400 GeneticVariation disease BEFREE In agreement with the previous studies, we show that mutations in the RP2 gene and in the original 19 RPGR exons are detected in <10% and approximately 20% of XLRP probands, respectively. 11992260 2002
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.400 Biomarker disease BEFREE We isolated and characterized the entire coding sequence of a human gene encoding a protein that interacts with RPGR, a protein that is absent or mutant in many cases of X-linked retinitis pigmentosa. 11283794 2001
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.400 GeneticVariation disease BEFREE Novel deletion of the RPGR gene in a Chinese family with X-linked retinitis pigmentosa. 11559860 2001
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.400 GeneticVariation disease BEFREE So far, only two XLRP genes have been identified, RPGR (or RP3) and RP2, being mutated in approximately 70% and 10% of the XLRP patients. 11462235 2001
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.400 GeneticVariation disease BEFREE Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa. 11754050 2001
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.400 GeneticVariation disease BEFREE Five novel RPGR mutations in families with X-linked retinitis pigmentosa. 11180598 2001
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.400 GeneticVariation disease BEFREE Mutations in RPGR and RP2 genes together account for approximately 33% of cases of XLRP in North America. 10937588 2000