SIX1, SIX homeobox 1, 6495

N. diseases: 200; N. variants: 12
Disease: DEAFNESS, AUTOSOMAL DOMINANT 23 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854594
Disease: DEAFNESS, AUTOSOMAL DOMINANT 23
DEAFNESS, AUTOSOMAL DOMINANT 23 		0.600 CausalMutation disease CLINVAR Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations. 19497856 2009
CUI: C1854594
Disease: DEAFNESS, AUTOSOMAL DOMINANT 23
DEAFNESS, AUTOSOMAL DOMINANT 23 		0.600 CausalMutation disease CLINVAR SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. 15141091 2004
CUI: C1854594
Disease: DEAFNESS, AUTOSOMAL DOMINANT 23
DEAFNESS, AUTOSOMAL DOMINANT 23 		0.600 Biomarker disease GENOMICS_ENGLAND A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred. 10777717 2000
CUI: C1854594
Disease: DEAFNESS, AUTOSOMAL DOMINANT 23
DEAFNESS, AUTOSOMAL DOMINANT 23 		0.600 Biomarker disease GENOMICS_ENGLAND Abrogation of the G2 cell cycle checkpoint associated with overexpression of HSIX1: a possible mechanism of breast carcinogenesis. 9770533 1998
CUI: C1854594
Disease: DEAFNESS, AUTOSOMAL DOMINANT 23
DEAFNESS, AUTOSOMAL DOMINANT 23 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C1854594
Disease: DEAFNESS, AUTOSOMAL DOMINANT 23
DEAFNESS, AUTOSOMAL DOMINANT 23 		0.600 GeneticVariation disease CLINVAR
CUI: C1854594
Disease: DEAFNESS, AUTOSOMAL DOMINANT 23
DEAFNESS, AUTOSOMAL DOMINANT 23 		0.600 Biomarker disease CTD_human