Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		0.720 GeneticVariation BEFREE Whereas mice deficient in Six1 recapitulated most of the developmental defects associated with BOS3, mice lacking Six2 function had no obvious frontonasal defects. 30905259

2019
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		0.720 GeneticVariation UNIPROT Structure-function analyses of the human SIX1-EYA2 complex reveal insights into metastasis and BOR syndrome. 23435380

2013
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		0.720 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
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		0.720 GeneticVariation UNIPROT Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations. 19497856

2009
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		0.720 GeneticVariation UNIPROT SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. 18330911

2008
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		0.720 GeneticVariation BEFREE Interestingly, mutations in SIX1 have been reported in patients with BOR/BOS3. 18666230

2008
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		0.720 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
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		0.720 GeneticVariation UNIPROT SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. 15141091

2004
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		0.720 Biomarker GENOMICS_ENGLAND A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred. 10777717

2000
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		0.720 Biomarker GENOMICS_ENGLAND Abrogation of the G2 cell cycle checkpoint associated with overexpression of HSIX1: a possible mechanism of breast carcinogenesis. 9770533

1998
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		0.720 CausalMutation CLINVAR

Entrez Id: 6495
Gene Symbol: SIX1
SIX1
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		0.720 Biomarker GENOMICS_ENGLAND

Entrez Id: 6495
Gene Symbol: SIX1
SIX1
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		0.720 GeneticVariation CLINVAR

Entrez Id: 6495
Gene Symbol: SIX1
SIX1
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		0.720 Biomarker CTD_human

Entrez Id: 10736
Gene Symbol: SIX2
SIX2
CUI: C1842124
Disease: BRANCHIOOTIC SYNDROME 3 (disorder)
BRANCHIOOTIC SYNDROME 3 (disorder) 		0.010 GeneticVariation BEFREE SIX1 and SIX2 encode closely related transcription factors of which disruptions have been associated with distinct craniofacial syndromes, with mutations in SIX1 associated with branchiootic syndrome 3 (BOS3) and heterozygous deletions of SIX2 associated with frontonasal dysplasia defects. 30905259

2019