ESPN, espin, 83715

N. diseases: 10; N. variants: 6
Disease: Hearing Loss, Extreme ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086395
Disease: Hearing Loss, Extreme
Hearing Loss, Extreme 		0.300 Biomarker phenotype CTD_human Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation. 15930085 2006
CUI: C0086395
Disease: Hearing Loss, Extreme
Hearing Loss, Extreme 		0.300 Biomarker phenotype CTD_human Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. 15286153 2004