SIX1, SIX homeobox 1, 6495

N. diseases: 200; N. variants: 12
Disease: BRANCHIOOTIC SYNDROME 3 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515562
rs397515562
Entrez Id: 6495;113218481
Gene Symbol: SIX1;MIR9718
SIX1;MIR9718
CUI: C1842124
Disease:
BRANCHIOOTIC SYNDROME 3 (disorder) 		0.700 GeneticVariation UNIPROT Structure-function analyses of the human SIX1-EYA2 complex reveal insights into metastasis and BOR syndrome. 23435380 2013
dbSNP: rs397515562
rs397515562
Entrez Id: 6495;113218481
Gene Symbol: SIX1;MIR9718
SIX1;MIR9718
CUI: C1842124
Disease:
BRANCHIOOTIC SYNDROME 3 (disorder) 		0.700 GeneticVariation UNIPROT Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. 21280147 2011
dbSNP: rs397515562
rs397515562
Entrez Id: 6495;113218481
Gene Symbol: SIX1;MIR9718
SIX1;MIR9718
CUI: C1842124
Disease:
BRANCHIOOTIC SYNDROME 3 (disorder) 		0.700 GeneticVariation UNIPROT Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations. 19497856 2009
dbSNP: rs397515562
rs397515562
Entrez Id: 6495;113218481
Gene Symbol: SIX1;MIR9718
SIX1;MIR9718
CUI: C1842124
Disease:
BRANCHIOOTIC SYNDROME 3 (disorder) 		0.700 GeneticVariation UNIPROT SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. 18330911 2008
dbSNP: rs397515562
rs397515562
Entrez Id: 6495;113218481
Gene Symbol: SIX1;MIR9718
SIX1;MIR9718
CUI: C1842124
Disease:
BRANCHIOOTIC SYNDROME 3 (disorder) 		0.700 GeneticVariation UNIPROT Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. 17637804 2007
dbSNP: rs397515562
rs397515562
Entrez Id: 6495;113218481
Gene Symbol: SIX1;MIR9718
SIX1;MIR9718
CUI: C1842124
Disease:
BRANCHIOOTIC SYNDROME 3 (disorder) 		0.700 GeneticVariation UNIPROT SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. 15141091 2004