Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5923
Gene Symbol: RASGRF1
RASGRF1 		0.030 GeneticVariation disease BEFREE Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. 8817343 1996
Entrez Id: 5923
Gene Symbol: RASGRF1
RASGRF1 		0.030 GeneticVariation disease BEFREE A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). 8673101 1996
Entrez Id: 5923
Gene Symbol: RASGRF1
RASGRF1 		0.030 GeneticVariation disease BEFREE The cilia-expressed gene RPGR (retinitis pigmentosa GTPase regulator) is mutated in patients with X-linked retinitis pigmentosa (XLRP) and encodes multiple protein isoforms with a common N-terminal domain homologous to regulator of chromosome condensation 1 (RCC1), a guanine nucleotide exchange factor (GEF) for Ran GTPase. 20631154 2010
Entrez Id: 1104
Gene Symbol: RCC1
RCC1 		0.030 GeneticVariation disease BEFREE The cilia-expressed gene RPGR (retinitis pigmentosa GTPase regulator) is mutated in patients with X-linked retinitis pigmentosa (XLRP) and encodes multiple protein isoforms with a common N-terminal domain homologous to regulator of chromosome condensation 1 (RCC1), a guanine nucleotide exchange factor (GEF) for Ran GTPase. 20631154 2010
Entrez Id: 1104
Gene Symbol: RCC1
RCC1 		0.030 GeneticVariation disease BEFREE Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. 8817343 1996
Entrez Id: 1104
Gene Symbol: RCC1
RCC1 		0.030 GeneticVariation disease BEFREE A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). 8673101 1996
Entrez Id: 81554
Gene Symbol: RCC1L
RCC1L 		0.020 Biomarker 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: 81554
Gene Symbol: RCC1L
RCC1L 		0.020 GeneticVariation disease BEFREE To describe a macrodeletion spanning entire RCC1-like doman in the RPGR gene in one Japanese family with X-linked retinitis pigmentosa (XLRP). 16052169 2005
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.100 GeneticVariation disease BEFREE To identify mutations in the RPGR and RP2 genes from Chinese families with X-linked retinitis pigmentosa (XLRP). 20021257 2010
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.100 GeneticVariation disease BEFREE Phenotype associated with an R120X nonsense mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa. 11262649 2001
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.100 GeneticVariation disease BEFREE A novel RP2 missense mutation Q158P identified in an X-linked retinitis pigmentosa family impaired RP2 protein stability. 31071385 2019
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.100 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: 6102
Gene Symbol: RP2
RP2 		0.100 Biomarker disease BEFREE RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa? 19702441 2009
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.100 GeneticVariation disease BEFREE It is concluded that the mutation of the RP2 gene also causes the X-linked retinitis pigmentosa in Japanese patients. 10634633 2000
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.100 GeneticVariation disease BEFREE Mutations in the RP2 gene are linked to the second most frequent form of X-linked retinitis pigmentosa. 16457815 2006
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.100 GeneticVariation disease BEFREE To identify novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene and retinitis pigmentosa 2 (RP2) gene underlying X-linked retinitis pigmentosa (XLRP) and assess genotype-phenotype correlations. 27768226 2017
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.100 GeneticVariation disease BEFREE Novel mutation in RP2 gene in two brothers with X-linked retinitis pigmentosa and mtDNA mutation of leber hereditary optic neuropathy who showed marked differences in clinical severity. 11020419 2000
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.100 GeneticVariation disease BEFREE Mutations in RPGR and RP2 genes together account for approximately 33% of cases of XLRP in North America. 10937588 2000
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.100 PosttranslationalModification disease BEFREE Using computational analysis, we revealed an extragenic tandem GAAA repeat 230-bp from the landmark CpG island of the human X-linked retinitis pigmentosa 2 RP2 promoter whose 5meCpG status correlates with XCI. 25078280 2014
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.100 GeneticVariation disease BEFREE Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa. 11465545 2001
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.100 AlteredExpression disease BEFREE RPGR and RP2 genes expressed in the photoreceptor sensory cilia are predominantly implicated in XLRP; however, the interpretation of genetic mutations and their correlation with clinical phenotypes remain unknown, and the role of these genes in photoreceptor cilia function is not completely elucidated. 23443027 2013
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.100 GeneticVariation disease BEFREE An approximately 17Kb large deletion including the exon 4 and exon 5 of RP2 gene was found in an XLRP family. 28294154 2017
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.100 GeneticVariation disease BEFREE Screening for mutations in RPGR and RP2 genes in Jordanian families with X-linked retinitis pigmentosa. 27323122 2016
Entrez Id: 6116
Gene Symbol: RP24
RP24 		0.010 GeneticVariation disease BEFREE Mapping of the RP24 locus expands our understanding of the genetic heterogeneity in XLRP and will assist in development of better tools for diagnosis. 9792872 1998
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