GSN, gelsolin, 2934

N. diseases: 262; N. variants: 26
Disease: Amyloidosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.400 GeneticVariation disease BEFREE Severe ataxia with neuropathy in hereditary gelsolin amyloidosis: a case report. 17453628 2007
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.400 GeneticVariation disease BEFREE The present study demonstrates the first successful in vitro creation of amyloid-like fibrils from Asn187 gelsolin peptides and provides evidence that amyloid formation in Finnish amyloidosis is a direct consequence of the Asp187----Asn substitution in gelsolin. 1311922 1992
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.400 GeneticVariation disease BEFREE A new heterozygous G duplicate in exon1 (c.100dupG) of gelsolin gene causes Finnish gelsolin amyloidosis in a Chinese family. 30417985 2018
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.400 GeneticVariation disease BEFREE We report the first known case of a patient who had amyloidosis both due to a mutant transthyretin (p.Val122Ile) and due to a novel variant in the gelsolin gene (p.Ala578Pro). 30093168 2018
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.400 GeneticVariation disease BEFREE It is concluded that homozygous Finnish amyloidosis leads to a severe nephropathy due to the deposition of fragments of mutant gelsolin. 8395367 1993
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.400 GeneticVariation disease BEFREE The second domain of gelsolin (G2) hosts mutations responsible for a hereditary form of amyloidosis. 31416615 2019
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.400 GeneticVariation disease BEFREE One patient with transthyretin amyloidosis and 1 patient with gelsolin amyloidosis with no specific mutation identified were diagnosed based on genetic confirmation in their first-degree relative. 20937937 2011
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.400 GeneticVariation disease BEFREE Cutis laxa in hereditary gelsolin amyloidosis. 15727635 2005
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.400 GeneticVariation disease BEFREE Heavy-chain amyloidosis in TGFBI-negative and gelsolin-negative atypical lattice corneal dystrophy. 21743312 2011
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.400 GeneticVariation disease BEFREE In the disease familial amyloidosis, Finnish type (FAF), also known as AGel amyloidosis (AGel), the mechanism by which point mutations in the calcium-regulated actin-severing protein gelsolin lead to furin cleavage is not understood in the intact protein. 31243148 2019
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.400 GeneticVariation disease BEFREE The gelsolin fragments isolated from at least one patient with amyloidosis have been reported to have an amino acid substitution, with asparagine replacing aspartic acid at position 187 of the plasma gelsolin. 1652889 1991
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.400 GeneticVariation disease LHGDN Ardalan-Shoja-Kiuru syndrome--hereditary gelsolin amyloidosis plus retinitis pigmentosa. 17720986 2008
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.400 GeneticVariation disease BEFREE The First Korean Family With Hereditary Gelsolin Amyloidosis Caused by p.D214Y Mutation in the GSN Gene. 26915616 2016
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.400 GeneticVariation disease BEFREE The type of amyloidosis was AL in 51 patients (55.4%), non-V30M mutant ATTR in 10 (10.9%), V30M mutant ATTR in 8 (8.7%), serum amyloid A-derived amyloidosis (AA) in 6 (6.5%), wild-type ATTR in 4 (4.3%), gelsolin in 3 (3.3%), and unclassified in 10 (10.9%). 25828388 2015
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.400 GeneticVariation disease BEFREE The 654G-T mutation in the gelsolin gene gives rise to an amyloid disease clinically and pathogenetically similar to that caused by the 654G-A mutation. 10767822 2000
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.400 GeneticVariation disease BEFREE Causes of death and life span in Finnish gelsolin amyloidosis. 27137880 2016
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.400 GeneticVariation disease BEFREE We designate this variant of gelsolin-associated amyloidosis 'Agel Asn-187'. 2176481 1990
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.400 GeneticVariation disease BEFREE Xerostomia in hereditary gelsolin amyloidosis. 23356404 2013
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.400 GeneticVariation disease BEFREE Mutations (D187N/Y) in the second domain of gelsolin trigger the proteolytic pathway producing amyloidogenic fragments that form the pathological hallmark of gelsolin amyloidosis and lattice corneal dystrophy type 2 (LCD2). 29637772 2018
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.400 GeneticVariation disease BEFREE Altered platelet shape change in hereditary gelsolin Asp187Asn-related amyloidosis. 10744159 2000
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.400 GeneticVariation disease BEFREE Ultrastructurally, amyloid-like fibrils were formed from the mutant Asn-187 and Tyr-187 gelsolin peptides corresponding to the naturally occurring missense mutations found in familial gelsolin amyloidosis syndromes, as well as from a gelsolin peptide having a Val-187 substitution. 8176895 1994
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.400 GeneticVariation disease BEFREE Cardiac conduction alterations in a French family with amyloidosis of the Finnish type with the p.Asp187Tyr mutation in the GSN gene. 16258946 2006
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.400 GeneticVariation disease BEFREE Two mutations at nucleotide 654 in the gelsolin gene have been demonstrated, which result in a characteristic triad of ophthalmologic, neurologic and dermatologic manifestations distinct from other amyloidoses. 9547007 1998
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.400 GeneticVariation disease BEFREE Gender differences in the clinical course of Finnish gelsolin amyloidosis. 26805765 2016
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.400 GeneticVariation disease BEFREE Common origin of the gelsolin gene variant in 62 Finnish AGel amyloidosis families. 29167514 2018