SIX3, SIX homeobox 3, 6496

N. diseases: 117; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266667
Disease: Cyclocephaly
Cyclocephaly
0.110 GeneticVariation disease BEFREE We report a new HPE family, presenting a wide spectrum of clinical features, ranging from cyclopia to hypotelorism, in which a mutation was found for the first time in the SIX domain of SIX3: a GG insertion creates a frameshift leading to a nonsense mutation downstream in the homeodomain region. 11039582 2000
CUI: C0266667
Disease: Cyclocephaly
Cyclocephaly
0.110 Biomarker disease HPO