rs121912491, LAMB2

N. diseases: 4
Disease: Nephrotic Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Nephrotic Syndrome
CUI: C0027726
Disease: Nephrotic Syndrome
0.010 GeneticVariation BEFREE Taken together, these results suggest that the R246Q mutation causes nephrotic syndrome by impairing secretion of laminin-521 from podocytes into the GBM; however, increased expression of the mutant protein is able to overcome this secretion defect and improve glomerular permselectivity. 21511833 2011