rs121918075, TTR

N. diseases: 15
Disease: Polyneuropathy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Polyneuropathy
CUI: C0152025
Disease: Polyneuropathy
0.040 GeneticVariation BEFREE Patients with familial amyloidotic polyneuropathy amyloidogenic transthyretin Y114C had CNS disorders related to amyloid deposition in leptomeninges, vessel walls, and parenchyma in spinal cord and the brain. 16217058 2005
Polyneuropathy
CUI: C0152025
Disease: Polyneuropathy
0.040 GeneticVariation BEFREE The Y114C mutation in human transthyretin (TTR) is associated with a particular form of familial amyloidotic polyneuropathy. 12403615 2002
Polyneuropathy
CUI: C0152025
Disease: Polyneuropathy
0.040 GeneticVariation BEFREE Unusual self-association properties of transthyretin Y114C related to familial amyloidotic polyneuropathy: effects on detection and quantification. 10425176 1999
Polyneuropathy
CUI: C0152025
Disease: Polyneuropathy
0.040 GeneticVariation BEFREE A novel variant of transthyretin (Tyr114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese sibling cases. 2161654 1990