ESPN, espin, 83715

N. diseases: 10; N. variants: 6
Disease: Nonsyndromic Deafness ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Genetic causes of moderate to severe hearing loss point to modifiers. 27573290 2017
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss. 28281779 2017
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Hair cell stereociliary bundle regeneration by espin gene transduction after aminoglycoside damage and hair cell induction by Notch inhibition. 26886463 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. 26445815 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II. 22048959 2012
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Myosin IIIa boosts elongation of stereocilia by transporting espin 1 to the plus ends of actin filaments. 19287378 2009
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family. 18973245 2008
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation. 15930085 2006
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Balanced levels of Espin are critical for stereociliary growth and length maintenance. 16206170 2005
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. 15286153 2004
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. 15286153 2004
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.310 Biomarker disease CLINGEN The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins. 10975527 2000