SIX1, SIX homeobox 1, 6495

N. diseases: 200; N. variants: 12
Disease: Papillorenal syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1852759
Disease: Papillorenal syndrome
Papillorenal syndrome 		0.010 GeneticVariation disease BEFREE It is interesting that a SIX1 sequence variant was identified in two siblings with renal-coloboma syndrome as a result of a PAX2 mutation, suggesting an oligogenic inheritance. 16971658 2006