SIX1, SIX homeobox 1, 6495

N. diseases: 200; N. variants: 12
Disease: DEAFNESS, AUTOSOMAL DOMINANT 23 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894478
rs104894478
Entrez Id: 6495;113218481
Gene Symbol: SIX1;MIR9718
SIX1;MIR9718
CUI: C1854594
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 23 		C 0.700 CausalMutation CLINVAR Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations. 19497856 2009
dbSNP: rs104894478
rs104894478
Entrez Id: 6495;113218481
Gene Symbol: SIX1;MIR9718
SIX1;MIR9718
CUI: C1854594
Disease:
DEAFNESS, AUTOSOMAL DOMINANT 23 		C 0.700 CausalMutation CLINVAR SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. 15141091 2004