SIX1, SIX homeobox 1, 6495

N. diseases: 200; N. variants: 12
Disease: ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3551443
Disease: ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT
ANTERIOR SEGMENT ANOMALIES WITH OR WITHOUT CATARACT 		0.300 GermlineCausalMutation disease ORPHANET SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. 15141091 2004