NUP160, nucleoporin 160, 23279

N. diseases: 17; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748552
Disease: NEPHROTIC SYNDROME, TYPE 19
NEPHROTIC SYNDROME, TYPE 19
0.500 GeneticVariation disease UNIPROT Mutations in NUP160 Are Implicated in Steroid-Resistant Nephrotic Syndrome. 30910934 2019
CUI: C4748552
Disease: NEPHROTIC SYNDROME, TYPE 19
NEPHROTIC SYNDROME, TYPE 19
0.500 Biomarker disease GENOMICS_ENGLAND Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. 30179222 2018
CUI: C4748552
Disease: NEPHROTIC SYNDROME, TYPE 19
NEPHROTIC SYNDROME, TYPE 19
0.500 Biomarker disease GENOMICS_ENGLAND Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. 30179222 2018
CUI: C4748552
Disease: NEPHROTIC SYNDROME, TYPE 19
NEPHROTIC SYNDROME, TYPE 19
0.500 GeneticVariation disease UNIPROT Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. 30179222 2018