SOX10, SRY-box transcription factor 10, 6663

N. diseases: 334; N. variants: 45
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 		0.110 GeneticVariation phenotype BEFREE Diagnosis of anosmia or hyposmia in young children is challenging, and particularly in the absence of magnetic resonance imaging (MRI), SOX10 mutations can mimic non-syndromic hearing impairment. 25256313 2015
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.110 Biomarker phenotype HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.110 CausalMutation phenotype CLINVAR