rs267607161, TTR

N. diseases: 16
Disease: Amyloid Neuropathies, Familial ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Amyloid Neuropathies, Familial
CUI: C0206245
Disease: Amyloid Neuropathies, Familial
0.040 GeneticVariation BEFREE Familial amyloid polyneuropathy with chronic paroxysmal dry cough in Mainland China: A Chinese family with a proven heterozygous missense mutation c.349G>T in the transthyretin gene. 30361054 2019
Amyloid Neuropathies, Familial
CUI: C0206245
Disease: Amyloid Neuropathies, Familial
0.040 GeneticVariation BEFREE Ala97Ser (A97S) is the major transthyretin (TTR) mutation in Taiwanese patients of familial amyloid polyneuropathy (FAP), characterized by a late-onset but rapidly deteriorated neuropathy. 31502419 2019
Amyloid Neuropathies, Familial
CUI: C0206245
Disease: Amyloid Neuropathies, Familial
0.040 GeneticVariation BEFREE A Missense Variant p.Ala117Ser in the Transthyretin Gene of a Han Chinese Family with Familial Amyloid Polyneuropathy. 28762097 2018
Amyloid Neuropathies, Familial
CUI: C0206245
Disease: Amyloid Neuropathies, Familial
0.040 GeneticVariation BEFREE Fabry disease (1%) and familial amyloid polyneuropathy (3%) with Ala97Ser transthyretin (TTR) mutations were also detected. 28957343 2017