rs121918079, TTR

N. diseases: 10
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
0.020 GeneticVariation BEFREE The L55P mutation linked to aggressive early onset cardiomyopathy and polyneuropathy induces substantial structural perturbations in both the DAGH and CBEF β-sheets, whereas the V30M polyneuropathy-linked substitution perturbs primarily the CBEF sheet. 29972637 2018
Polyneuropathy
CUI: C0152025
Disease: Polyneuropathy
0.020 GeneticVariation BEFREE The x-ray crystal structure of the amyloidogenic Leu55 --> Pro transthyretin (TTR) variant, implicated as the causative agent in early-onset familial amyloidotic polyneuropathy (Jacobson, D. R., McFarlin, D. E., Kane, I., and Buxbaum, J. N. (1992) Hum.Genet. 9733771 1998