Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.380 GeneticVariation BEFREE Coding variants in nephrin (NPHS1) and susceptibility to nephropathy in African Americans. 24948143

2014
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.380 Biomarker BEFREE Similarly, other genes such as Nephrin (NPHS1) and Podocin (NPHS2) contribute to the loss of renal function during renal diseases. 19520069

2009
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.380 GeneticVariation 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
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.380 GeneticVariation BEFREE Mutations affecting a number of slit diaphragm proteins, including nephrin (encoded by NPHS1), lead to renal disease owing to disruption of the filtration barrier and rearrangement of the actin cytoskeleton, although the molecular basis for this is unclear. 16525419

2006
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.380 Biomarker CTD_human IFN-inducible protein-10 plays a pivotal role in maintaining slit-diaphragm function by regulating podocyte cell-cycle balance. 16382022

2006
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.380 GeneticVariation BEFREE Mutations or deregulation of NPHS1 are associated with a variety of renal diseases, including the Finnish type congenital nephrotic syndrome. 15579507

2004
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.380 GeneticVariation BEFREE Variations in the nephrin gene may also affect the degree of proteinuria in acquired kidney diseases. 12631336

2003
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.380 GeneticVariation BEFREE Genetic polymorphism of NPHS1 modifies the clinical manifestations of Ig A nephropathy. 12920248

2003
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.380 Biomarker CTD_human mAb 5-1-6 nephropathy and nephrin. 12012391

2002
Entrez Id: 4868
Gene Symbol: NPHS1
NPHS1
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.380 GeneticVariation BEFREE Congenital nephrotic syndrome of the Finnish type (CNF or NPHS1) is an autosomal recessive kidney disorder resulting in severe proteinurea and renal dysfunction. 11726550

2001