POU4F3, POU class 4 homeobox 3, 5459

N. diseases: 23; N. variants: 8
Disease: Deafness, Autosomal Dominant 15 ×
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 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 CausalMutation disease CLINVAR
CUI: C1865366
Disease: Deafness, Autosomal Dominant 15
Deafness, Autosomal Dominant 15 		0.710 Biomarker disease CTD_human
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 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 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 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 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 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 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 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 Biomarker disease GENOMICS_ENGLAND Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans. 9506947 1998