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: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type. 10652016 2000
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease UNIPROT Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type. 10652016 2000
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease UNIPROT Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. 9660941 1998
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease UNIPROT SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract. 25804400 2015
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease UNIPROT Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. 18503012 2008
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease UNIPROT Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS). 20172850 2010
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease UNIPROT In the present study, the genomic structure of the nephrin gene was analyzed, and 35 NPHS1 patients were screened for the presence of mutations in the gene. 9915943 1999
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease UNIPROT Congenital nephrotic syndrome, Finnish type (CNF or NPHS1), is an autosomal recessive disease characterized by massive proteinuria and development of nephrotic syndrome shortly after birth. 11317351 2001
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease UNIPROT Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. 18614772 2008
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease UNIPROT A familial childhood-onset relapsing nephrotic syndrome. 17290294 2007
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease UNIPROT A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. 22565185 2012
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease UNIPROT Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients. 22732337 2012
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease UNIPROT Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome. 22009864 2011
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease UNIPROT Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. 20798252 2010
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease UNIPROT Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome. 11726550 2001
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GeneticVariation disease UNIPROT NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described. 26560236 2016
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: C0017665
Disease: Membranous glomerulonephritis
Membranous glomerulonephritis 		0.230 Biomarker disease RGD Nephrin and podocin dissociate at the onset of proteinuria in experimental membranous nephropathy. 15882266 2005
CUI: C0403399
Disease: Finnish congenital nephrotic syndrome
Finnish congenital nephrotic syndrome 		0.800 GermlineCausalMutation disease ORPHANET Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. 9660941 1998
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.400 GermlineCausalMutation disease ORPHANET Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. 18614772 2008
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.400 GermlineCausalMutation disease ORPHANET To investigate the mechanisms by which mutations might cause glomerular protein leak, we analysed NPHS1/NPHS2 genotype/phenotype relationships in 41 non-Finnish CNF patients, four patients with congenital (onset 0 to 3 months) focal segmental glomerulosclerosis and five patients with possible SRN1 (onset 6 months to 2 years). 11854170 2002
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE 		0.400 GermlineCausalMutation disease ORPHANET Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis. 19812541 2009