POU4F3, POU class 4 homeobox 3, 5459

N. diseases: 23; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865366
Disease: Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 15 		0.710 GeneticVariation disease UNIPROT 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: C1865366
Disease: Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 15 		0.710 GeneticVariation disease UNIPROT A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss. 28790396 2017
CUI: C1865366
Disease: Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 15 		0.710 GeneticVariation disease UNIPROT Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss. 25388789 2014
CUI: C1865366
Disease: Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 15 		0.710 Biomarker disease BEFREE POU4F3 is a known disease gene causing AD-HSLH (DFNA15) described in 5 unrelated families until now each with a unique mutation. 24260153 2013
CUI: C1865366
Disease: Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 15 		0.710 GeneticVariation disease UNIPROT POU4F3 is a known disease gene causing AD-HSLH (DFNA15) described in 5 unrelated families until now each with a unique mutation. 24260153 2013
CUI: C1865366
Disease: Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 15 		0.710 GeneticVariation disease UNIPROT Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families. 22938506 2012
CUI: C1865366
Disease: Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 15 		0.710 GeneticVariation disease UNIPROT Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3. 18347256 2008
CUI: C1865366
Disease: Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 15 		0.710 GeneticVariation disease UNIPROT Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding. 18228599 2008
CUI: C1865366
Disease: Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 15 		0.710 GeneticVariation disease UNIPROT Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. 9506947 1998
CUI: C1865366
Disease: Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 15 		0.710 Biomarker disease GENOMICS_ENGLAND Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. 9506947 1998
CUI: C1865366
Disease: Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 15 		0.710 CausalMutation disease CLINVAR
CUI: C1865366
Disease: Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 15 		0.710 Biomarker disease CTD_human
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