SIX1, SIX homeobox 1, 6495

N. diseases: 200; N. variants: 12
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 GeneticVariation phenotype BEFREE Herein, we identified a novel mutation in SIX1 (p.E125K) in a Tunisian family with variable HI and preauricular pits. 21700001 2011
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.420 Biomarker phenotype BEFREE The majority of the hearing-impaired family members did not display progression of hearing loss.The DFNA23 locus maps to 14q21-q22. 10777717 2000
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.420 Biomarker phenotype GENOMICS_ENGLAND Abrogation of the G2 cell cycle checkpoint associated with overexpression of HSIX1: a possible mechanism of breast carcinogenesis. 9770533 1998
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.420 GeneticVariation phenotype CLINVAR
CUI: C1384666
Disease: hearing impairment
hearing impairment
0.420 Biomarker phenotype HPO