SMPX, small muscle protein X-linked, 23676

N. diseases: 37; N. variants: 8
Disease: Nonsyndromic Deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 Biomarker disease BEFREE Only three X-linked genes (POU class 3 homeobox 4 (POU3F4), phosphoribosyl pyrophosphate synthetase 1 (PRPS1), and small muscle protein X-linked (SMPX)) are known to be involved in nonsyndromic hearing loss. 30874365 2020
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 Biomarker disease CLINGEN A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family. 28542515 2017
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 GeneticVariation disease BEFREE A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family. 28542515 2017
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 Biomarker disease CLINGEN A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect. 22911656 2013
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 Biomarker disease CLINGEN Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss. 21549336 2011
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 Biomarker disease CLINGEN Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment. 21549342 2011
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 Biomarker disease CLINGEN Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family. 21893181 2011
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.320 Biomarker disease CLINGEN Identification of genes concordantly expressed with Atoh1 during inner ear development. 21519551 2011