GUK1, guanylate kinase 1, 2987

N. diseases: 19; N. variants: 1
Disease: Steroid resistant nephrotic syndrome of childhood ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3266102
Disease: Steroid resistant nephrotic syndrome of childhood
Steroid resistant nephrotic syndrome of childhood 		0.010 Biomarker disease BEFREE Here, we identified novel disease-causing mutations in <i>membrane-associated guanylate kinase, WW, and PDZ domain-containing 2</i> (<i>MAGI2</i>) through whole-exome sequencing of a deeply phenotyped cohort of patients with congenital, childhood-onset SRNS. 27932480 2017