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: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.050 AlteredExpression disease LHGDN Expression of human nephrin mRNA in diabetic nephropathy. 14736962 2004
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.050 AlteredExpression disease LHGDN Proteinuria and the expression of the podocyte slit diaphragm protein, nephrin, in diabetic nephropathy: effects of angiotensin converting enzyme inhibition. 12436341 2002
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.050 GeneticVariation disease BEFREE In this work, using bioinformatic tools, we identified a purine-rich GAGA element in the nephrin gene promoter and conducted a genomic study in search of the presence of polymorphisms in this element and its possible association with DN in type 2 diabetic patients. 18449463 2007
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.050 GeneticVariation disease BEFREE The single nucleotide polymorphism rs#466452 of the nephrin gene seems to be neutral in relation to diabetes and the development of diabetic nephropathy, and does not affect the splicing of a nephrin transcript, in spite of a splicing enhancer site. 19746264 2009
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.050 Biomarker disease LHGDN This study does not support an involvement of the coding region of the nephrin gene in the pathogenesis of diabetic nephropathy in type 1 diabetic patients. 12631336 2003
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.050 GeneticVariation disease BEFREE This study does not support an involvement of the coding region of the nephrin gene in the pathogenesis of diabetic nephropathy in type 1 diabetic patients. 12631336 2003