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 		0.100 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 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 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: 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 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 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 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 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 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 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 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 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 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