SMPX, small muscle protein X-linked, 23676

N. diseases: 37; N. variants: 8
Disease: DEAFNESS, X-LINKED 4 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848204
Disease: DEAFNESS, X-LINKED 4 (disorder)
DEAFNESS, X-LINKED 4 (disorder) 		0.610 GeneticVariation disease CLINVAR 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: C1848204
Disease: DEAFNESS, X-LINKED 4 (disorder)
DEAFNESS, X-LINKED 4 (disorder) 		0.610 Biomarker disease BEFREE Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family. 21893181 2011
CUI: C1848204
Disease: DEAFNESS, X-LINKED 4 (disorder)
DEAFNESS, X-LINKED 4 (disorder) 		0.610 GeneticVariation disease CLINVAR Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss. 21549336 2011
CUI: C1848204
Disease: DEAFNESS, X-LINKED 4 (disorder)
DEAFNESS, X-LINKED 4 (disorder) 		0.610 Biomarker disease GENOMICS_ENGLAND A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22. 8872482 1996
CUI: C1848204
Disease: DEAFNESS, X-LINKED 4 (disorder)
DEAFNESS, X-LINKED 4 (disorder) 		0.610 Biomarker disease CTD_human
CUI: C1848204
Disease: DEAFNESS, X-LINKED 4 (disorder)
DEAFNESS, X-LINKED 4 (disorder) 		0.610 CausalMutation disease CLINVAR