Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial Amyloid Polyneuropathy, Type V
0.020 GeneticVariation 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
Familial Amyloid Polyneuropathy, Type V
0.020 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