rs28933979, TTR

N. diseases: 70
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
0.100 GeneticVariation BEFREE Hereditary amyloidosis related to transthyretin V30M: disease progression in treated and untreated patients. 29924456 2018
Amyloidosis, Familial
CUI: C0740340
Disease: Amyloidosis, Familial
0.100 GeneticVariation BEFREE Familial amyloidotic polyneuropathy (FAP) has a high prevalence in Portugal, and the most common form of hereditary amyloidosis is caused by an amyloidogenic variant of transthyretin (TTR) with a substitution of methionine for valine at position 30 (V30M). 24030829 2013
Amyloidosis, Familial
CUI: C0740340
Disease: Amyloidosis, Familial
0.100 GeneticVariation BEFREE Vitreous surgery impact in glaucoma development in liver transplanted familial amyloidosis ATTR V30M Portuguese patients. 22856884 2012
Amyloidosis, Familial
CUI: C0740340
Disease: Amyloidosis, Familial
0.100 GeneticVariation BEFREE Recurrence of vitreous amyloidosis and need of surgical reintervention in Portuguese patients with familial amyloidosis ATTR V30M. 21358362 2011
Amyloidosis, Familial
CUI: C0740340
Disease: Amyloidosis, Familial
0.100 GeneticVariation BEFREE Anticipation of presbyopia in Portuguese familial amyloidosis ATTR V30M. 21591979 2011
Amyloidosis, Familial
CUI: C0740340
Disease: Amyloidosis, Familial
0.100 GeneticVariation BEFREE The Val30Met transthyretin familial amyloid polyneuropathy (TTR-V30M-FAP) is the most frequent familial amyloidosis, with autosomal dominant transmission. 20234390 2010
Amyloidosis, Familial
CUI: C0740340
Disease: Amyloidosis, Familial
0.100 GeneticVariation BEFREE This study was conducted to identify the erythropoietin-producing cells in renal biopsies from 10 cadaveric donors and 45 patients with familial amyloidosis</span> ATTR V30M, thirteen of them with anemia. 20979939 2010
Amyloidosis, Familial
CUI: C0740340
Disease: Amyloidosis, Familial
0.100 GeneticVariation BEFREE Long-term treatment of anemia with recombinant human erythropoietin in familial amyloidosis TTR V30M. 18925459 2008
Amyloidosis, Familial
CUI: C0740340
Disease: Amyloidosis, Familial
0.100 GeneticVariation BEFREE Liver transplantation and anemia in familial amyloidosis ATTR V30M. 17453623 2007
Amyloidosis, Familial
CUI: C0740340
Disease: Amyloidosis, Familial
0.100 GeneticVariation BEFREE Portuguese-type amyloidosis (transthyretin amyloidosis, ATTR V30M) is the most common form of systemic hereditary amyloidosis, inherited in autosomal dominant mode. 12832749 2003
Amyloidosis, Familial
CUI: C0740340
Disease: Amyloidosis, Familial
0.100 GeneticVariation BEFREE The latter findings are not usually seen in the patients with ATTR Val30Met, the most common form of familial amyloidosis. 11132096 2000