SMPX, small muscle protein X-linked, 23676

N. diseases: 37; N. variants: 8
Disease: Congenital deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.020 GeneticVariation disease BEFREE Whole-exome sequencing identifies a donor splice-site variant in SMPX that causes rare X-linked congenital deafness. 31478598 2019
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.020 GeneticVariation disease BEFREE Subpopulation screening of the coding exons and flanking introns of SMPX was further performed for 338 Chinese patients with nonsydromic HL by Sanger sequencing, and another two potential causative substitutions (c.238C>A and c.55A>G) in SMPX were identified in additional sporadic cases of congenital deafness. 28542515 2017