Disease: Familial Amyloid Polyneuropathy, Type V ×
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909212
rs121909212
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C0155127
Disease:
Familial Amyloid Polyneuropathy, Type V 		0.030 GeneticVariation BEFREE To report a case of a unilateral variant of late-onset lattice corneal dystrophy (LCD) with the Pro501Thr mutation in the TGFBI gene with unilaterality confirmed by confocal microscopy. 23884333 2013
dbSNP: rs121909212
rs121909212
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C0155127
Disease:
Familial Amyloid Polyneuropathy, Type V 		0.030 GeneticVariation BEFREE The incidence of mutations was ranked as follows: 118 patients (72%), the R124H mutation associated with Avellino corneal dystrophy; 23 patients (14%), the R124C mutation associated with lattice corneal dystrophy type 1; and 10 patients (6%), the P501T mutation associated with lattice corneal dystrophy type 3A. 11024425 2000
dbSNP: rs121909212
rs121909212
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
CUI: C0155127
Disease:
Familial Amyloid Polyneuropathy, Type V 		0.030 GeneticVariation BEFREE Although the P501T of the BIGH3 gene found in this pedigree was precisely the one reported for lattice corneal dystrophy IIIA, no clinical feature was shown, even in the 85-year-old father. 11004271 2000