SIX1, SIX homeobox 1, 6495

N. diseases: 200; N. variants: 12
Disease: Branchiootic syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4273131
Disease: Branchiootic syndrome
Branchiootic syndrome 		0.320 GeneticVariation disease BEFREE We identified a de novo missense variant [p(Asn174Tyr)] in the DNA-binding Homeodomain of SIX1, a gene which previously has been associated with autosomal dominant hearing loss (ADHL) and branchio-oto-renal or Branchio-otic syndrome, a condition not seen in this patient. 31595699 2019
CUI: C4273131
Disease: Branchiootic syndrome
Branchiootic syndrome 		0.320 GeneticVariation disease BEFREE Mutations in human SIX1 gene cause branchiootorenal or branchiootic syndrome. 24899122 2014
CUI: C4273131
Disease: Branchiootic syndrome
Branchiootic syndrome 		0.320 GermlineCausalMutation disease ORPHANET SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. 15141091 2004