POU4F3, POU class 4 homeobox 3, 5459

N. diseases: 23; N. variants: 8
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 		0.360 GeneticVariation disease BEFREE Mutations in the POU class 4 transcription factor 3 <i>(POU4F3)</i> are known to cause autosomal dominant nonsyndromic hearing loss linked to the loci of DFNA15. 29850532 2018
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker disease CLINGEN Mutations in the POU class 4 transcription factor 3 <i>(POU4F3)</i> are known to cause autosomal dominant nonsyndromic hearing loss linked to the loci of DFNA15. 29850532 2018
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker disease CLINGEN POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss. 28545070 2017
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker disease CLINGEN A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss. 28790396 2017
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker disease CLINGEN Exome sequencing identifies POU4F3 as the causative gene for a large Chinese family with non-syndromic hearing loss. 27535032 2017
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker disease CLINGEN A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss. 27999687 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker disease CLINGEN Transcriptome profiling of induced hair cells (iHCs) generated by combined expression of Gfi1, Pou4f3 and Atoh1 during embryonic stem cell differentiation. 26697340 2015
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 GeneticVariation disease BEFREE Of the 23 probands, six had mutations in DFNA genes [WFS1 (n = 2), COCH, ACTG1, TMC1, and POU4F3] known to cause autosomal dominant nonsyndromic hearing loss. 25388789 2014
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker disease BEFREE Moreover, new variants in genes such as COCH, MYO7A and POU4F3 are associated with nonsyndromic deafness and vestibular dysfunction. 24275721 2014
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker disease CLINGEN Deafness gene expression patterns in the mouse cochlea found by microarray analysis. 24676347 2014
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker disease CLINGEN Inhibition of Myo6 gene expression by co‑expression of a mutant of transcription factor POU4F3 (BRN‑3C) in hair cells. 24535414 2014
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker disease CLINGEN Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing. 23767834 2013
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 GeneticVariation disease BEFREE SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15). 24260153 2013
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker disease CLINGEN SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15). 24260153 2013
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker disease CLINGEN A novel frameshift mutation of POU4F3 gene associated with autosomal dominant non-syndromic hearing loss. 20434433 2010
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 GeneticVariation disease BEFREE DFNA15 is the third cochleovestibular disorder, after DFNA9 and DFNA11, in the autosomal dominant nonsyndromic hearing impairment. 19372648 2009
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker disease CLINGEN Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding. 18228599 2008
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker disease CLINGEN Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene. 15254021 2004
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 GeneticVariation disease BEFREE A mutation in the POU4F3 gene (BRN-3.1, BRN3C) is responsible for DFNA15 (MIM 602459), autosomal-dominant nonsyndromic hearing loss. 14585957 2003
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker disease CLINGEN Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. 9506947 1998
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker disease CLINGEN Role of transcription factors Brn-3.1 and Brn-3.2 in auditory and visual system development. 8637595 1996