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 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 Biomarker disease GENOMICS_ENGLAND
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.680 Biomarker disease GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants. 21738648 2011
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
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 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 Next-generation genetic testing for retinitis pigmentosa. 22334370 2012
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 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 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 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 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 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 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 GeneticVariation disease UNIPROT RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. 14564670 2003
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.680 GermlineCausalMutation disease ORPHANET
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.680 Biomarker disease HPO
CUI: C0027092
Disease: Myopia
Myopia 		0.110 Biomarker disease HPO
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.110 Biomarker disease HPO
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.100 Biomarker disease HPO
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.100 Biomarker disease HPO