NUP85, nucleoporin 85, 79902

N. diseases: 12; N. variants: 5
Disease: NEPHROTIC SYNDROME, TYPE 17 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748545
Disease: NEPHROTIC SYNDROME, TYPE 17
NEPHROTIC SYNDROME, TYPE 17 		0.600 GeneticVariation disease CLINVAR Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. 30179222 2018
CUI: C4748545
Disease: NEPHROTIC SYNDROME, TYPE 17
NEPHROTIC SYNDROME, TYPE 17 		0.600 GeneticVariation disease UNIPROT Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. 30179222 2018
CUI: C4748545
Disease: NEPHROTIC SYNDROME, TYPE 17
NEPHROTIC SYNDROME, TYPE 17 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. 30179222 2018
CUI: C4748545
Disease: NEPHROTIC SYNDROME, TYPE 17
NEPHROTIC SYNDROME, TYPE 17 		0.600 CausalMutation disease CLINVAR