rs28933979, TTR

N. diseases: 70
Disease: Amyloid Neuropathies ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Amyloid Neuropathies
CUI: C0206247
Disease: Amyloid Neuropathies
0.030 GeneticVariation BEFREE This analysis of patients with Val30Met ATTR-PN demonstrates that neurologic disease progression strongly depends on baseline neurologic severity and illustrates the disease-modifying effect of tafamidis relative to placebo across a range of baseline levels of neurologic severity and treatment durations. 30558645 2018
Amyloid Neuropathies
CUI: C0206247
Disease: Amyloid Neuropathies
0.030 GeneticVariation BEFREE Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease. 15649951 2005
Amyloid Neuropathies
CUI: C0206247
Disease: Amyloid Neuropathies
0.030 GeneticVariation BEFREE Three brothers in a family with Val30Met transthyretin (TTR) amyloid polyneuropathy (FAP) in Iiyama, Japan were studied pathologically. 15523922 2004