DIAPH3, diaphanous related formin 3, 81624

N. diseases: 44; N. variants: 28
Disease: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836743
Disease: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1
AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1 		0.710 Biomarker disease GENOMICS_ENGLAND Autosomal dominant auditory neuropathy and variant DIAPH3 (c.-173C>T). 27658576 2018
CUI: C1836743
Disease: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1
AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1 		0.710 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
CUI: C1836743
Disease: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1
AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1 		0.710 Biomarker disease CTD_human
CUI: C1836743
Disease: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1
AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1 		0.710 Biomarker disease MGD