PAX6, paired box 6, 5080

N. diseases: 340; N. variants: 118
Disease: Microcephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease BEFREE Results from this study illustrate for the first time the critical role of H(2)O(2)-mediated Pax6 suppression in alcohol-induced microcephaly and suggest the presence of additional mechanisms for alcohol-induced fetal growth retardation. 15193293 2004
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease HPO