Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
BRANCHIOOTIC SYNDROME 3 (disorder)
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
BRANCHIOOTIC SYNDROME 3 (disorder)
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
BRANCHIOOTIC SYNDROME 3 (disorder)
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
BRANCHIOOTIC SYNDROME 3 (disorder)
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
BRANCHIOOTIC SYNDROME 3 (disorder)
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
BRANCHIOOTIC SYNDROME 3 (disorder)
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