NUP133, nucleoporin 133, 55746

N. diseases: 50; N. variants: 3
Disease: Galloway Mowat syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795949
Disease: Galloway Mowat syndrome
Galloway Mowat syndrome 		0.310 GermlineCausalMutation disease ORPHANET 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: C0795949
Disease: Galloway Mowat syndrome
Galloway Mowat syndrome 		0.310 GeneticVariation disease BEFREE Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome. 30427554 2018