RDX, radixin, 5962

N. diseases: 80; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970239
Disease: DEAFNESS, AUTOSOMAL RECESSIVE, 24
DEAFNESS, AUTOSOMAL RECESSIVE, 24 		0.700 GeneticVariation disease UNIPROT Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus. 17226784 2007
CUI: C1970239
Disease: DEAFNESS, AUTOSOMAL RECESSIVE, 24
DEAFNESS, AUTOSOMAL RECESSIVE, 24 		0.700 Biomarker disease GENOMICS_ENGLAND Molecular cloning, cDNA sequence, and chromosomal assignment of the human radixin gene and two dispersed pseudogenes. 8486357 1993
CUI: C1970239
Disease: DEAFNESS, AUTOSOMAL RECESSIVE, 24
DEAFNESS, AUTOSOMAL RECESSIVE, 24 		0.700 Biomarker disease CTD_human
CUI: C1970239
Disease: DEAFNESS, AUTOSOMAL RECESSIVE, 24
DEAFNESS, AUTOSOMAL RECESSIVE, 24 		0.700 CausalMutation disease CLINVAR
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort. 26226137 2016
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.310 AlteredExpression disease BEFREE Immunoprecipitation identified Ezrin but not Radixin associating with MRP2 in human livers, and the increased amount of phospho-Ezrin Thr567 was positively correlated with the amount of co-precipitated MRP2 in cholestatic livers, whereas Ezrin and Radixin total protein levels were unchanged in cholestasis. 26212029 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN CLIC5 stabilizes membrane-actin filament linkages at the base of hair cell stereocilia in a molecular complex with radixin, taperin, and myosin VI. 24285636 2014
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Molecular architecture of the chick vestibular hair bundle. 23334578 2013
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene. 22567349 2011
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family. 19215054 2009
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.310 Biomarker disease CTD_human The disturbed colocalization of Mrp2 and radixin may contribute to the endocytic retrieval of Mrp2 in cholestasis due to the failure to anchor Mrp2 in the canalicular membrane, in which the phosphorylated radixin may play a major role. 17681005 2008
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.310 GeneticVariation phenotype LHGDN Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus. 17226784 2007
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 GeneticVariation disease BEFREE Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus. 17226784 2007
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus. 17226784 2007
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Radixin deficiency causes deafness associated with progressive degeneration of cochlear stereocilia. 15314067 2004
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Radixin is a constituent of stereocilia in hair cells. 14983055 2004
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.310 Biomarker phenotype GENOMICS_ENGLAND Molecular cloning, cDNA sequence, and chromosomal assignment of the human radixin gene and two dispersed pseudogenes. 8486357 1993
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.300 Biomarker disease CTD_human Misregulation of membrane trafficking processes in human nonalcoholic steatohepatitis. 29341352 2018
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis 		0.300 Biomarker disease CTD_human Misregulation of membrane trafficking processes in human nonalcoholic steatohepatitis. 29341352 2018
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.200 Biomarker disease MGD Radixin deficiency causes deafness associated with progressive degeneration of cochlear stereocilia. 15314067 2004
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.200 Biomarker disease MGD Radixin deficiency causes conjugated hyperbilirubinemia with loss of Mrp2 from bile canalicular membranes. 12068294 2002
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASCAT Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits. 30289880 2018
CUI: C0202159
Disease: Parathyroid hormone measurement
Parathyroid hormone measurement 		0.100 GeneticVariation phenotype GWASCAT Genome-wide meta-analysis identifies novel loci associated with parathyroid hormone level. 30134803 2018
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.100 GeneticVariation phenotype GWASCAT Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits. 30289880 2018
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.100 GeneticVariation phenotype GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018