NUP133, nucleoporin 133, 55746

N. diseases: 50; N. variants: 3
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 A nup133-knockdown zebrafish model exhibited microcephaly, fewer neuronal cells, underdeveloped glomeruli, and fusion of the foot processes of the podocytes, which mimicked human GAMOS features. nup133 morphants could be rescued by human wild-type NUP133 mRNA but not by mutant mRNA. 30427554 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease HPO