Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Steroid-resistant nephrotic syndrome
0.120 GeneticVariation disease BEFREE Recently, it was discovered that mutations of NUP93 and NUP205, encoding 2 proteins of the inner ring subunit of the nuclear pore complex (NPC), cause SRNS. 30179222 2018
Steroid-resistant nephrotic syndrome
0.120 Biomarker disease BEFREE Here we identify in eight families with SRNS mutations in NUP93, its interaction partner NUP205 or XPO5 (encoding exportin 5) as hitherto unrecognized monogenic causes of SRNS. 26878725 2016
Steroid-resistant nephrotic syndrome
0.120 Biomarker disease HPO