POU4F3, POU class 4 homeobox 3, 5459

N. diseases: 23; N. variants: 8
Disease: hearing impairment ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.150 GeneticVariation phenotype BEFREE In this study, we identified a novel heterozygous mutation (c.602delT, p.L201fs) in the gene POU4F3 by taking advantage of whole-exome sequencing, which was validated by Sanger sequencing and completely co-segregated within a large hearing impaired Chinese family. 27535032 2017
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.150 AlteredExpression phenotype BEFREE POU4F3 is a transcription factor associated with human hearing impairment. 20394804 2010
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.150 GeneticVariation phenotype BEFREE A novel mutation (L223P) in POU4F3 segregated with hearing impairment in the present family. 19462854 2009
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.150 GeneticVariation phenotype BEFREE Furthermore, mutations in this gene do not seem to be a rare cause of hearing impairment in the Dutch population, and the POU4F3 gene may thus be suitable for implementation in diagnostic testing. 18228599 2008
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.150 GeneticVariation phenotype LHGDN The DFNA15 deafness mutation affects POU4F3 protein stability, localization, and transcriptional activity. 14585957 2003
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.150 Biomarker phenotype HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.150 CausalMutation phenotype CLINVAR