FN1, fibronectin 1, 2335

N. diseases: 724; N. variants: 33
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Glomerulopathy with fibronectin deposits
0.570 GeneticVariation disease BEFREE A novel single amino acid deletion impairs fibronectin function and causes familial glomerulopathy with fibronectin deposits: case report of a family. 31419955 2019
Glomerulopathy with fibronectin deposits
0.570 GeneticVariation disease BEFREE Glomerulopathy with fibronectin deposits (GFND; OMIM: 601894) is a very rare inherited kidney disease caused by pathogenic variants in the FN1 gene. 29131116 2018
Glomerulopathy with fibronectin deposits
0.570 Biomarker disease BEFREE Fibronectin Conformation and Assembly: Analysis of Fibronectin Deletion Mutants and Fibronectin Glomerulopathy (GFND) Mutants. 28745050 2017
Glomerulopathy with fibronectin deposits
0.570 GeneticVariation disease BEFREE We report six FN1 mutations from 12 families with GFND, including five that are novel (p.Pro969Leu, p.Pro1472del, p.Trp1925Cys, p.Lys1953_Ile1961del, and p.Leu1974Pro). p.Pro1472del is localized in the integrin-binding domain of fibronectin, while the others are in heparin-binding domains. 27056061 2016
Glomerulopathy with fibronectin deposits
0.570 GeneticVariation disease BEFREE (ii) The FN1 gene, expressed in the glomerulus and responsible for a rare form of glomerulopathy with fibronectin deposits (GFND). 24046192 2013
Glomerulopathy with fibronectin deposits
0.570 Biomarker disease BEFREE Fibronectin glomerulopathy is an inherited non-immune-mediated glomerulopathy associated with the massive deposition of fibronectin. 20594046 2010
Glomerulopathy with fibronectin deposits
0.570 GermlineCausalMutation disease ORPHANET Mutations in FN1 cause glomerulopathy with fibronectin deposits. 18268355 2008
Glomerulopathy with fibronectin deposits
0.570 Biomarker disease BEFREE Gene identification will provide insights into the molecular interactions of Fn in GFND, as well as in genetically unaltered conditions. 9837825 1998
Glomerulopathy with fibronectin deposits
0.570 Biomarker disease CTD_human