rs145473779, NUP93

N. diseases: 1
Disease: NEPHROTIC SYNDROME, TYPE 12 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
NEPHROTIC SYNDROME, TYPE 12
CUI: C4225166
Disease: NEPHROTIC SYNDROME, TYPE 12
0.800 GeneticVariation UNIPROT Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. 26878725 2016
NEPHROTIC SYNDROME, TYPE 12
CUI: C4225166
Disease: NEPHROTIC SYNDROME, TYPE 12
0.800 CausalMutation CLINVAR