NUP133, nucleoporin 133, 55746

N. diseases: 50; N. variants: 3
Disease: NEPHROTIC SYNDROME, TYPE 18 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748549
Disease: NEPHROTIC SYNDROME, TYPE 18
NEPHROTIC SYNDROME, TYPE 18 		0.600 GeneticVariation disease UNIPROT Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. 30179222 2018
CUI: C4748549
Disease: NEPHROTIC SYNDROME, TYPE 18
NEPHROTIC SYNDROME, TYPE 18 		0.600 GeneticVariation disease CLINVAR Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. 30179222 2018
CUI: C4748549
Disease: NEPHROTIC SYNDROME, TYPE 18
NEPHROTIC SYNDROME, TYPE 18 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. 30179222 2018
CUI: C4748549
Disease: NEPHROTIC SYNDROME, TYPE 18
NEPHROTIC SYNDROME, TYPE 18 		0.600 Biomarker disease GENOMICS_ENGLAND Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome. 30427554 2018
CUI: C4748549
Disease: NEPHROTIC SYNDROME, TYPE 18
NEPHROTIC SYNDROME, TYPE 18 		0.600 CausalMutation disease CLINVAR