Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2059
Gene Symbol: EPS8
EPS8
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.300 Biomarker CLINGEN Distinct roles of Eps8 in the maturation of cochlear and vestibular hair cells. 27132230

2016

Entrez Id: 2059
Gene Symbol: EPS8
EPS8
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.300 Biomarker CLINGEN Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. 27344577

2016

Entrez Id: 2059
Gene Symbol: EPS8
EPS8
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.300 Biomarker CLINGEN Alternative Splice Forms Influence Functions of Whirlin in Mechanosensory Hair Cell Stereocilia. 27117407

2016

Entrez Id: 2059
Gene Symbol: EPS8
EPS8
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.300 Biomarker CLINGEN EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness. 24741995

2014

Entrez Id: 2059
Gene Symbol: EPS8
EPS8
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.300 Biomarker CLINGEN Regulation of stereocilia length by myosin XVa and whirlin depends on the actin-regulatory protein Eps8. 21236676

2011

Entrez Id: 2059
Gene Symbol: EPS8
EPS8
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
0.300 Biomarker CLINGEN Eps8 regulates hair bundle length and functional maturation of mammalian auditory hair cells. 21526224

2011