Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.950 Biomarker disease CTD_human
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.950 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 403
Gene Symbol: ARL3
ARL3 		0.220 Biomarker disease MGD
Entrez Id: 7076
Gene Symbol: TIMP1
TIMP1 		0.010 GeneticVariation disease BEFREE The results of this study exclude mutations in the TIMP-1 coding sequence, splice sites, and the 5' upstream region as a cause of retinal degeneration in x-linked retinitis pigmentosa 2. 9286280 1997
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.950 GeneticVariation disease UNIPROT Positional cloning of the gene for X-linked retinitis pigmentosa 2. 9697692 1998
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.950 GeneticVariation disease UNIPROT Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2). 10520237 1999
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.950 CausalMutation disease CLINVAR Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study. 10090907 1999
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.950 GeneticVariation disease UNIPROT Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study. 10090907 1999
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.950 GeneticVariation disease UNIPROT A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa. 10634633 2000
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.950 GeneticVariation disease UNIPROT X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. 10937588 2000
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.950 GeneticVariation disease UNIPROT Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane. 10942419 2000
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.950 GeneticVariation disease UNIPROT Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains. 11462235 2001
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.950 GeneticVariation disease UNIPROT 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 		0.950 GeneticVariation disease UNIPROT Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C. 11847227 2002
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.950 GeneticVariation disease UNIPROT 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: 6102
Gene Symbol: RP2
RP2 		0.950 GeneticVariation disease UNIPROT RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. 14564670 2003
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.950 CausalMutation disease CLINVAR Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism? 15032968 2004
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.950 GeneticVariation disease UNIPROT Crystal structure of the human retinitis pigmentosa 2 protein and its interaction with Arl3. 16472755 2006
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.950 Biomarker disease GENOMICS_ENGLAND Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants. 21738648 2011
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.950 GeneticVariation disease UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370 2012
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.950 Biomarker disease MGD We introduced loxP sites that flank exon 2, a mutational hotspot in XLRP-RP2, in the mouse Rp2 gene. 23745007 2013
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.040 Biomarker disease BEFREE Direct sequencing of RPGR and RP2 allowed for identification of a disease-causing mutation in 21 families. 23372056 2013
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.040 Biomarker disease BEFREE In this brief review, we summarize the functional characterization of XLRP-causing genes, RPGR and RP2, in zebrafish, and highlight recent studies that provide insight into the cellular functions of both genes. 23536988 2013
Entrez Id: 6102
Gene Symbol: RP2
RP2 		0.950 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 		0.950 Biomarker disease MGD Mistrafficking of prenylated proteins causes retinitis pigmentosa 2. 25422369 2015