POU3F4, POU class 3 homeobox 4, 5456

N. diseases: 65; N. variants: 18
Disease: hearing impairment ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.420 Biomarker phenotype BEFREE Although many disorders manifest with hearing loss, a limited number of sex-linked loci and only one gene (POU3F4) have been shown to be implicated in X-linked non-syndromic hearing impairment. 19493398 2009
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.420 Biomarker phenotype GENOMICS_ENGLAND The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation. 9298820 1997
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.420 GeneticVariation phenotype BEFREE Deafness with fixation of the stapes (DFN3) is the most frequent X-linked form of hearing impairment. 7839145 1995
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.420 CausalMutation phenotype CLINVAR