RP2, RP2 activator of ARL3 GTPase, 6102

N. diseases: 45; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		0.950 GeneticVariation disease BEFREE A compound heterozygous mutation in the gene usherin 2A (USH2A; c.6,485+5G>A/c.11,156G>A) and a heterozygous X‑linked mutation in the gene retinitis pigmentosa 2 (RP2) ARL3 GTPase‑activating protein (RP2; c.358C>T) were identified by Sanger sequencing and co‑segregation analysis, of which the pathogenic mutation (c.6,485+5G>A) in USH2A has not been previously reported among Chinese patients. 30280194 2018
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		0.950 GeneticVariation disease BEFREE This was further validated by reduced levels of Kif7 at cilia tips detected in fibroblasts and induced pluripotent stem cell (iPSC) 3D optic cups derived from a patient carrying an RP2 nonsense mutation c.519C > T (p.R120X), which lack detectable RP2 protein. 28444310 2017
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		0.950 GeneticVariation disease BEFREE Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish. 28209709 2017
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		0.950 Biomarker disease MGD Mistrafficking of prenylated proteins causes retinitis pigmentosa 2. 25422369 2015
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		0.950 AlteredExpression disease BEFREE Concurrently, we generated a self-complementary adeno-associated viral (AAV) vector carrying human RP2-coding sequence and demonstrated its ability to mediate stable RP2 protein expression in mouse photoreceptors. 26358772 2015
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		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
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		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
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		0.950 GeneticVariation disease UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370 2012
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		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
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		0.950 GeneticVariation disease UNIPROT Crystal structure of the human retinitis pigmentosa 2 protein and its interaction with Arl3. 16472755 2006
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		0.950 CausalMutation disease CLINVAR Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism? 15032968 2004
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		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
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		0.950 GeneticVariation disease UNIPROT RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. 14564670 2003
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		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
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		0.950 GeneticVariation disease UNIPROT Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C. 11847227 2002
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		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
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		0.950 GeneticVariation disease UNIPROT A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa. 10634633 2000
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		0.950 GeneticVariation disease UNIPROT X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. 10937588 2000
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		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
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		0.950 GeneticVariation disease UNIPROT Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2). 10520237 1999
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		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
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		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
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		0.950 GeneticVariation disease UNIPROT Positional cloning of the gene for X-linked retinitis pigmentosa 2. 9697692 1998
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		0.950 Biomarker disease CTD_human
CUI: C2681923
Disease: RETINITIS PIGMENTOSA 2 (disorder)
RETINITIS PIGMENTOSA 2 (disorder) 		0.950 Biomarker disease GENOMICS_ENGLAND