Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5459
Gene Symbol: POU4F3
POU4F3
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker 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
Entrez Id: 5459
Gene Symbol: POU4F3
POU4F3
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker 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
Entrez Id: 5459
Gene Symbol: POU4F3
POU4F3
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker CLINGEN A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss. 28790396

2017
Entrez Id: 5459
Gene Symbol: POU4F3
POU4F3
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker CLINGEN Exome sequencing identifies POU4F3 as the causative gene for a large Chinese family with non-syndromic hearing loss. 27535032

2017
Entrez Id: 5459
Gene Symbol: POU4F3
POU4F3
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker CLINGEN A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss. 27999687

2016
Entrez Id: 5459
Gene Symbol: POU4F3
POU4F3
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker CLINGEN Transcriptome profiling of induced hair cells (iHCs) generated by combined expression of Gfi1, Pou4f3 and Atoh1 during embryonic stem cell differentiation. 26697340

2015
Entrez Id: 5459
Gene Symbol: POU4F3
POU4F3
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker CLINGEN Deafness gene expression patterns in the mouse cochlea found by microarray analysis. 24676347

2014
Entrez Id: 5459
Gene Symbol: POU4F3
POU4F3
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker CLINGEN Inhibition of Myo6 gene expression by co‑expression of a mutant of transcription factor POU4F3 (BRN‑3C) in hair cells. 24535414

2014
Entrez Id: 5459
Gene Symbol: POU4F3
POU4F3
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker CLINGEN Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing. 23767834

2013
Entrez Id: 5459
Gene Symbol: POU4F3
POU4F3
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker CLINGEN SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15). 24260153

2013
Entrez Id: 5459
Gene Symbol: POU4F3
POU4F3
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker CLINGEN A novel frameshift mutation of POU4F3 gene associated with autosomal dominant non-syndromic hearing loss. 20434433

2010
Entrez Id: 5459
Gene Symbol: POU4F3
POU4F3
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker CLINGEN Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding. 18228599

2008
Entrez Id: 5459
Gene Symbol: POU4F3
POU4F3
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker CLINGEN Transcription profiling of inner ears from Pou4f3(ddl/ddl) identifies Gfi1 as a target of the Pou4f3 deafness gene. 15254021

2004
Entrez Id: 5459
Gene Symbol: POU4F3
POU4F3
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker CLINGEN Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. 9506947

1998
Entrez Id: 5459
Gene Symbol: POU4F3
POU4F3
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		0.360 Biomarker CLINGEN Role of transcription factors Brn-3.1 and Brn-3.2 in auditory and visual system development. 8637595

1996