NPHS1, NPHS1 adhesion molecule, nephrin, 4868

N. diseases: 87; N. variants: 189
Disease: Nephrotic Syndrome, Minimal Change ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1704321
Disease: Nephrotic Syndrome, Minimal Change
Nephrotic Syndrome, Minimal Change 		0.330 Biomarker disease CTD_human Decreased tyrosine phosphorylation of nephrin in rat and human nephrosis. 18256598 2008
CUI: C1704321
Disease: Nephrotic Syndrome, Minimal Change
Nephrotic Syndrome, Minimal Change 		0.330 GeneticVariation disease BEFREE The analysis of NPHS1 revealed no specific MCNS-associated mutation. 15086927 2004
CUI: C1704321
Disease: Nephrotic Syndrome, Minimal Change
Nephrotic Syndrome, Minimal Change 		0.330 GeneticVariation disease BEFREE Nineteen patients (53%), especially those with minimal change nephrotic syndrome (MCNS) at initial biopsy (p < 0.002), entered complete remission with CSA monotherapy, including one patient with compound heterozygous NPHS1 and dominant ACTN4 mutation, respectively. 25903641 2015
CUI: C1704321
Disease: Nephrotic Syndrome, Minimal Change
Nephrotic Syndrome, Minimal Change 		0.330 GeneticVariation disease BEFREE Patients with a single mutation in NPHS1 received a diagnosis before those with potentially nongenetic NS and had a good response to therapies.Renal function was normal in all cases. 19406966 2009