Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 83715
Gene Symbol: ESPN
ESPN
CUI: C0011053
Disease: Deafness
Deafness
0.300 Biomarker CTD_human A recessive mutation in the espin gene (Espn) has been detected in the jerker mouse and causes deafness, vestibular dysfunction, and hair cell degeneration. 15930085

2006

Entrez Id: 83715
Gene Symbol: ESPN
ESPN
CUI: C0011053
Disease: Deafness
Deafness
0.300 Biomarker CTD_human The abnormal vestibular phenotype associated with ESPN mutations will be a useful clinical marker for refining the differential diagnosis of non-syndromic deafness. 15286153

2004