Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 147912
Gene Symbol: SIX5
SIX5
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		0.530 Biomarker CLINGEN Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. 24429398

2014
Entrez Id: 147912
Gene Symbol: SIX5
SIX5
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		0.530 Biomarker CLINGEN We thereby identified heterozygous mutations in SIX5 as a novel cause of BOR. 17357085

2007
Entrez Id: 147912
Gene Symbol: SIX5
SIX5
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		0.530 Biomarker CLINGEN A map of the interactome network of the metazoan C. elegans. 14704431

2004
Entrez Id: 147912
Gene Symbol: SIX5
SIX5
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		0.530 Biomarker CLINGEN Impaired interactions between mouse Eyal harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins. 11950062

2002
Entrez Id: 147912
Gene Symbol: SIX5
SIX5
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		0.530 Biomarker CLINGEN Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts. 10802668

2000
Entrez Id: 147912
Gene Symbol: SIX5
SIX5
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		0.530 Biomarker CLINGEN Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. 10802667

2000