NPHS1, NPHS1 adhesion molecule, nephrin, 4868

N. diseases: 87; N. variants: 189
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 Biomarker group HPO
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 Biomarker group LHGDN Expression of nephrin, podocin, alpha-actinin, and WT1 in children with nephrotic syndrome. 12961083 2003
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 Therapeutic group RGD Glomerular abundance of nephrin and podocin in experimental nephrotic syndrome: different effects of antiproteinuric therapies. 15942045 2005
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 CausalMutation group CLINVAR Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. 11854170 2002
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 CausalMutation group CLINVAR Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. 18503012 2008
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.400 CausalMutation group CLINVAR Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type. 16518627 2006