ESPN, espin, 83715

N. diseases: 10; N. variants: 6
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908134
rs121908134
Entrez Id: 83715
Gene Symbol: ESPN
ESPN
CUI: C1837007
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT 		0.700 GeneticVariation UNIPROT Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. 28281779 2017
dbSNP: rs121908135
rs121908135
Entrez Id: 83715
Gene Symbol: ESPN
ESPN
CUI: C1837007
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT 		0.700 GeneticVariation UNIPROT Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. 28281779 2017
dbSNP: rs121908136
rs121908136
Entrez Id: 83715
Gene Symbol: ESPN
ESPN
CUI: C1837007
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT 		0.700 GeneticVariation UNIPROT Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. 28281779 2017
dbSNP: rs121908134
rs121908134
Entrez Id: 83715
Gene Symbol: ESPN
ESPN
CUI: C1837007
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT 		0.700 GeneticVariation UNIPROT Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation. 15930085 2006
dbSNP: rs121908135
rs121908135
Entrez Id: 83715
Gene Symbol: ESPN
ESPN
CUI: C1837007
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT 		0.700 GeneticVariation UNIPROT Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation. 15930085 2006
dbSNP: rs121908136
rs121908136
Entrez Id: 83715
Gene Symbol: ESPN
ESPN
CUI: C1837007
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT 		0.700 GeneticVariation UNIPROT Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation. 15930085 2006
dbSNP: rs1485674839
rs1485674839
Entrez Id: 83715
Gene Symbol: ESPN
ESPN
CUI: C1837007
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT 		T 0.700 GeneticVariation CLINVAR Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation. 15930085 2006
dbSNP: rs121908134
rs121908134
Entrez Id: 83715
Gene Symbol: ESPN
ESPN
CUI: C1837007
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT 		0.700 GeneticVariation UNIPROT Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. 15286153 2004
dbSNP: rs121908135
rs121908135
Entrez Id: 83715
Gene Symbol: ESPN
ESPN
CUI: C1837007
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT 		0.700 GeneticVariation UNIPROT Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. 15286153 2004
dbSNP: rs121908136
rs121908136
Entrez Id: 83715
Gene Symbol: ESPN
ESPN
CUI: C1837007
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT 		0.700 GeneticVariation UNIPROT Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. 15286153 2004
dbSNP: rs1485674839
rs1485674839
Entrez Id: 83715
Gene Symbol: ESPN
ESPN
CUI: C1837007
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT 		T 0.700 GeneticVariation CLINVAR Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. 15286153 2004
dbSNP: rs1485674839
rs1485674839
Entrez Id: 83715
Gene Symbol: ESPN
ESPN
CUI: C1837007
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT 		T 0.700 GeneticVariation CLINVAR Small espin: a third actin-bundling protein and potential forked protein ortholog in brush border microvilli. 9763424 1998
dbSNP: rs1557720377
rs1557720377
Entrez Id: 83715
Gene Symbol: ESPN
ESPN
CUI: C1568247
Disease:
Usher Syndrome, Type I 		T 0.700 CausalMutation CLINVAR
dbSNP: rs754472294
rs754472294
Entrez Id: 83715
Gene Symbol: ESPN
ESPN
CUI: C1384666
Disease:
hearing impairment 		A 0.700 CausalMutation CLINVAR
dbSNP: rs754472294
rs754472294
Entrez Id: 83715
Gene Symbol: ESPN
ESPN
CUI: C1837007
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT 		A 0.700 CausalMutation CLINVAR