SMPX, small muscle protein X-linked, 23676

N. diseases: 37; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499590
rs1060499590
Entrez Id: 23676
Gene Symbol: SMPX
SMPX
CUI: C1848204
Disease:
DEAFNESS, X-LINKED 4 (disorder) 		T 0.700 GeneticVariation 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
dbSNP: rs1060499590
rs1060499590
Entrez Id: 23676
Gene Symbol: SMPX
SMPX
CUI: C1848204
Disease:
DEAFNESS, X-LINKED 4 (disorder) 		T 0.700 GeneticVariation CLINVAR Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss. 21549336 2011
dbSNP: rs1569308571
rs1569308571
Entrez Id: 23676
Gene Symbol: SMPX
SMPX
CUI: C1843156
Disease:
Progressive sensorineural hearing impairment 		CT 0.700 CausalMutation CLINVAR
dbSNP: rs387906706
rs387906706
Entrez Id: 23676
Gene Symbol: SMPX
SMPX
CUI: C1848204
Disease:
DEAFNESS, X-LINKED 4 (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs387906707
rs387906707
Entrez Id: 23676
Gene Symbol: SMPX
SMPX
CUI: C1848204
Disease:
DEAFNESS, X-LINKED 4 (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs387906708
rs387906708
Entrez Id: 23676
Gene Symbol: SMPX
SMPX
CUI: C1848204
Disease:
DEAFNESS, X-LINKED 4 (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs398122848
rs398122848
Entrez Id: 23676
Gene Symbol: SMPX
SMPX
CUI: C1848204
Disease:
DEAFNESS, X-LINKED 4 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs398122930
rs398122930
Entrez Id: 23676
Gene Symbol: SMPX
SMPX
CUI: C1848204
Disease:
DEAFNESS, X-LINKED 4 (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs759552778
rs759552778
Entrez Id: 23676
Gene Symbol: SMPX
SMPX
CUI: C0339789
Disease:
Congenital deafness 		0.010 GeneticVariation 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