POU3F4, POU class 3 homeobox 4, 5456

N. diseases: 65; N. variants: 18
Disease: Congenital deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.050 Biomarker disease BEFREE De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss. 25792666 2015
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.050 Biomarker disease BEFREE FR's CT findings were consistent with those described in persons with X-linked deafness-2 (DFNX2) hereditary deafness. 24096866 2014
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.050 GeneticVariation disease BEFREE In this study, we describe the clinical features and genetic analysis of a male child from a German family with congenital deafness and a novel POU3F4 mutation. 21555964 2011
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.050 Biomarker disease BEFREE We evaluated two Korean families showing typical characteristics of DFN3, such as congenital hearing loss and pathognomonic inner ear anomalies. 20412083 2010
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		0.050 GeneticVariation disease BEFREE X-linked deafness type 3 (DFN3), the most prevalent X-linked form of hereditary deafness, is caused by mutations in the POU3F4 locus, which encodes a member of the POU family of transcription factors. 19671658 2009