ESPN, espin, 83715

N. diseases: 28; N. variants: 7
Disease: hearing impairment ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.120 GeneticVariation phenotype LHGDN 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: C1384666
Disease: hearing impairment
hearing impairment 		0.120 Biomarker phenotype LHGDN Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation. 15930085 2006
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.120 CausalMutation phenotype CLINVAR