HOMER2, homer scaffold protein 2, 9455

N. diseases: 29; N. variants: 4
Disease: Nonsyndromic Deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker disease CLINGEN Whole exome sequencing identified a second pathogenic variant in HOMER2 for autosomal dominant non-syndromic deafness. 30047143 2018
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.300 Biomarker disease CLINGEN HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice. 25816005 2015