rs121909715, GSN

N. diseases: 8
Disease: Amyloidosis, Familial ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Amyloidosis, Familial
CUI: C0740340
Disease: Amyloidosis, Familial
0.050 GeneticVariation BEFREE Five affected family members were found to have a D187Y substitution in the GSN gene known to cause hereditary amyloidosis type IV. 28039894 2017
Amyloidosis, Familial
CUI: C0740340
Disease: Amyloidosis, Familial
0.050 GeneticVariation BEFREE A mutation (D187N/Y) in human plasma gelsolin (GSN) leads to the generation of an 8 kDa GSN fragment (8 kDa-GSN), and consequently causes the familial amyloidosis of Finnish type. 28465181 2017
Amyloidosis, Familial
CUI: C0740340
Disease: Amyloidosis, Familial
0.050 GeneticVariation BEFREE Mutation of aspartic acid 187 to asparagine (D187N) or tyrosine (D187Y) in domain 2 of the actin-modulating protein gelsolin causes the neurodegenerative disease familial amyloidosis of Finnish type (FAF). 14596804 2003
Amyloidosis, Familial
CUI: C0740340
Disease: Amyloidosis, Familial
0.050 GeneticVariation BEFREE Recently the Finnish form of hereditary amyloidosis with lattice corneal dystrophy has been shown to be due to a mutation in the gelsolin gene (G654----A; Asp187----Asn). 1319113 1992
Amyloidosis, Familial
CUI: C0740340
Disease: Amyloidosis, Familial
0.050 GeneticVariation BEFREE Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families. 1652889 1991