Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Auditory neuropathy spectrum disorder
0.320 Biomarker disease CLINGEN We previously demonstrated that a mutation in the 5' untranslated region of Diaphanous homolog 3 (DIAPH3) results in 2 to 3-fold overexpression of the gene, leading to a form of delayed onset, progressive human deafness known as AUNA1 (auditory neuropathy, nonsyndromic, autosomal dominant, 1). 23441200 2013
Auditory neuropathy spectrum disorder
0.320 Biomarker disease BEFREE We previously demonstrated that a mutation in the 5' untranslated region of Diaphanous homolog 3 (DIAPH3) results in 2 to 3-fold overexpression of the gene, leading to a form of delayed onset, progressive human deafness known as AUNA1 (auditory neuropathy, nonsyndromic, autosomal dominant, 1). 23441200 2013
Auditory neuropathy spectrum disorder
0.320 Biomarker disease CLINGEN We have identified Diaphanous homolog 3 (DIAPH3) as the gene responsible for autosomal dominant nonsyndromic auditory neuropathy (AUNA1), which we previously mapped to chromosome 13q21-q24. 20624953 2010
Auditory neuropathy spectrum disorder
0.320 GeneticVariation disease BEFREE We have identified Diaphanous homolog 3 (DIAPH3) as the gene responsible for autosomal dominant nonsyndromic auditory neuropathy (AUNA1), which we previously mapped to chromosome 13q21-q24. 20624953 2010