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: C4511620
Disease: Autosomal dominant tubulointerstitial kidney disease
Autosomal dominant tubulointerstitial kidney disease 		0.010 GeneticVariation disease BEFREE Mutations in nephrin (NPHS1), podocin (NPHS2), laminin β2 (LAMB2), and α-actinin-4 (ACTN4) have been shown to induce ER stress in HEK293 cells and podocytes in hereditary nephrotic syndromes; various founder mutations in collagen IV α chains (COL4A) have been demonstrated to activate podocyte ER stress in collagen IV nephropathies; and mutations in uromodulin (UMOD) have been reported to trigger tubular ER stress in autosomal dominant tubulointerstitial kidney disease. 30099615 2019
CUI: C0012546
Disease: Diphtheria
Diphtheria 		0.010 Biomarker disease BEFREE For this, we generated mice expressing different toxin receptors, one on their proximal tubular epithelial cells (diphtheria toxin receptor [DTR]) and the other only on podocytes (human CD25 [IL-2R] driven by the nephrin promoter [Nep25]), allowing serial induction of tubule-specific and glomerular (podocyte)-specific injury, respectively. 28709637 2017
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.010 GeneticVariation disease BEFREE The molecular diagnosis for glaucoma included two cases with compound heterozygous or homozygous pathogenic alleles in CYP1B1 and one family with a dominant pathogenic variant in FOXC1; the second genetic diagnosis for the additional systemic features included compound heterozygous mutations in NPHS1 in one family and a heterozygous 18q23 deletion in another pedigree. 27272408 2016
CUI: C0035078
Disease: Kidney Failure
Kidney Failure 		0.010 GeneticVariation disease BEFREE Two synonymous NPHS1 polymorphisms, rs2285450 (c.294C>T) and rs437168 (c.2289C>T) segregated with renal failure in this family. 26147534 2015
CUI: C1533172
Disease: Infantile nystagmus syndrome
Infantile nystagmus syndrome 		0.010 Biomarker disease BEFREE The most commonly mutated gene in CNS patients was NPHS1 (46.3 %) versus NPHS2 (13.6 %) and WT1 (13.6 %) in INS patients. 25720465 2015
CUI: C3825926
Disease: Nephrotic syndrome in children
Nephrotic syndrome in children 		0.010 GeneticVariation disease BEFREE Association between NPHS1 and NPHS2 gene variants and nephrotic syndrome in children. 25599733 2015
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 Biomarker disease BEFREE Analysis of mucosa-associated E. coli from colon cancer and diverticulosis specimens showed that whatever the origin of the E. coli strains, 86% of cyclomodulin-positive E. coli belonged to B2 phylogroup and most harbored polyketide synthase (pks) island, which encodes colibactin, and/or cytotoxic necrotizing factor (cnf) genes. 24914378 2014
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 Biomarker disease BEFREE Analysis of mucosa-associated E. coli from colon cancer and diverticulosis specimens showed that whatever the origin of the E. coli strains, 86% of cyclomodulin-positive E. coli belonged to B2 phylogroup and most harbored polyketide synthase (pks) island, which encodes colibactin, and/or cytotoxic necrotizing factor (cnf) genes. 24914378 2014
CUI: C1510475
Disease: Diverticulosis
Diverticulosis 		0.010 AlteredExpression disease BEFREE Analysis of mucosa-associated E. coli from colon cancer and diverticulosis specimens showed that whatever the origin of the E. coli strains, 86% of cyclomodulin-positive E. coli belonged to B2 phylogroup and most harbored polyketide synthase (pks) island, which encodes colibactin, and/or cytotoxic necrotizing factor (cnf) genes. 24914378 2014
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1 		0.010 AlteredExpression disease BEFREE Regarding GKD subtypes, patients with focal segmental glomerulosclerosis (FSGS), but not patients with minimal change disease (MCD), had a significantly higher mRNA expression of B7-1 and NPHS1 than healthy subjects (P = 0.012 and P = 0.030, respectively). 21414970 2011
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 GeneticVariation disease BEFREE We present the analysis of an intronic polymorphism of the nephrin gene and its relationship to the development of diabetic nephropathy in a study of diabetes type 1 and type 2 patients. 19746264 2009
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		0.010 GeneticVariation disease BEFREE The most common mutations are in 4 genes, 3 of which are podocyte genes: NPHS1 (Finnish nephropathy), NPHS2 (podocin-induced focal segmental glomerulosclerosis), WT1 (diffuse mesangial sclerosis), and LAMB2 (Pierson syndrome). 18462046 2008
CUI: C0032914
Disease: Pre-Eclampsia
Pre-Eclampsia 		0.010 AlteredExpression phenotype LHGDN Glomerular expression of nephrin and synaptopodin, but not podocin, is decreased in kidney sections from women with preeclampsia. 17255128 2007
CUI: C0004158
Disease: Athetosis
Athetosis 		0.010 GeneticVariation phenotype BEFREE Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1). 16362719 2006
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.010 AlteredExpression disease BEFREE We postulate that the underlying mechanism of the hyperglycemia-induced regulation of various proteins of the glomerular filtration barrier is a PKCalpha-dependent regulation of the Wilms' Tumor Suppressor (WT1) which previously has been shown to act as a direct transcription factor on the nephrin promoter. 16955103 2006
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor 		0.010 AlteredExpression disease BEFREE We postulate that the underlying mechanism of the hyperglycemia-induced regulation of various proteins of the glomerular filtration barrier is a PKCalpha-dependent regulation of the Wilms' Tumor Suppressor (WT1) which previously has been shown to act as a direct transcription factor on the nephrin promoter. 16955103 2006
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 GeneticVariation group BEFREE The logistic regression analysis indicated that even after adjusting for the effect of proteinuria and hypertension the GG genotype of NPHS1 G349A was an independent risk factor for the deteriorated renal function at the time of diagnosis. 12920248 2003
CUI: C0015230
Disease: Exanthema
Exanthema 		0.010 GeneticVariation phenotype BEFREE We clarify the range of NPHS1 mutations in CNF, detecting mutation 'hot-spots' within the NPHS1 coding sequence. 11854170 2002
CUI: C0848332
Disease: Spots on skin
Spots on skin 		0.010 GeneticVariation phenotype BEFREE We clarify the range of NPHS1 mutations in CNF, detecting mutation 'hot-spots' within the NPHS1 coding sequence. 11854170 2002
CUI: C0220710
Disease: Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency 		0.010 GeneticVariation disease BEFREE In the present study, new PCR-OLA methods were developed for the detection of the major mutations causing infantile neuronal ceroid lipofuscinosis (INCLFin), congenital nephrotic syndrome of Finnish type (NPHS1 FinMajor and FinMinor) and medium chain acyl-CoA dehydrogenase deficiency (MCAD A985G). 11347979 2001
CUI: C0268281
Disease: Infantile neuronal ceroid lipofuscinosis
Infantile neuronal ceroid lipofuscinosis 		0.010 GeneticVariation disease BEFREE In the present study, new PCR-OLA methods were developed for the detection of the major mutations causing infantile neuronal ceroid lipofuscinosis (INCLFin), congenital nephrotic syndrome of Finnish type (NPHS1 FinMajor and FinMinor) and medium chain acyl-CoA dehydrogenase deficiency (MCAD A985G). 11347979 2001
CUI: C0026269
Disease: Mitral Valve Stenosis
Mitral Valve Stenosis 		0.010 Biomarker disease BEFREE Its increased secretion during T cell and monocyte homing in the CNF could contribute to the damage to the blood-brain barrier and the subsequent cytokine-mediated cytotoxic effect to myelin and oligodendrocytes in the white matter of MS patients. 9413261 1997
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 Biomarker disease BEFREE Its increased secretion during T cell and monocyte homing in the CNF could contribute to the damage to the blood-brain barrier and the subsequent cytokine-mediated cytotoxic effect to myelin and oligodendrocytes in the white matter of MS patients. 9413261 1997
CUI: C0033581
Disease: prostatitis
prostatitis 		0.010 Biomarker disease BEFREE Results suggest that E. coli strains producing prostatitis generally possess urovirulence profiles similar to those of strains from women with acute uncomplicated pyelonephritis and that hemolysin and CNF-1 are especially prevalent in prostatitis strains. 9237713 1997
CUI: C4524264
Disease: Uncomplicated pyelonephritis
Uncomplicated pyelonephritis 		0.010 Biomarker disease BEFREE Results suggest that E. coli strains producing prostatitis generally possess urovirulence profiles similar to those of strains from women with acute uncomplicated pyelonephritis and that hemolysin and CNF-1 are especially prevalent in prostatitis strains. 9237713 1997