NPHS1, NPHS1 adhesion molecule, nephrin, 4868

N. diseases: 87; N. variants: 189
Disease: Nephrotic Syndrome ×
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 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 GeneticVariation group BEFREE Fifteen episodes of recurrent nephrotic syndrome occurred in 13 (25%) of 51 grafts transplanted to 45 Finnish children with NPHS1. 11884936 2002
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.400 GeneticVariation group BEFREE 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 Biomarker group BEFREE Congenital nephrotic syndrome of the Finnish type (NPHS1) is an autosomal-recessive disorder, characterized by massive proteinuria in utero and nephrosis at birth. 9660941 1998
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.400 Biomarker group MGD
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome 		0.400 Biomarker group HPO