SMPX, small muscle protein X-linked, 23676

N. diseases: 37; N. variants: 8
Disease: hearing impairment ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.330 GeneticVariation phenotype BEFREE Collectively, this study is the first to report the role of SMPX in Chinese population and identify a novel frameshift mutation in SMPX that causes not only nonsyndromic late-onset progressive HL, but also congenital hearing impairment. 28542515 2017
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.330 Biomarker phenotype BEFREE Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family. 21893181 2011
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.330 AlteredExpression phenotype BEFREE SMPX had previously been demonstrated to be specifically expressed in striated muscle and, therefore, seemed an unlikely candidate gene for hearing impairment. 21549342 2011
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.330 Biomarker phenotype GENOMICS_ENGLAND A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22. 8872482 1996