rs76992529, TTR

N. diseases: 36
Disease: Peripheral Nervous System Diseases ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Peripheral Nervous System Diseases
CUI: C4721453
Disease: Peripheral Nervous System Diseases
0.020 GeneticVariation BEFREE On multivariate analysis, age at diagnosis (risk ratio, 15.65; p < 0.0001), Thr60Ala mutation (risk ratio, 1.52; p = 0.04), Val122Ile mutation (risk ratio, 2.83; p = 0.003), peripheral neuropathy (risk ratio, 1.69; p = 0.013) and weight loss (risk ratio, 1.81; p = 0.002) were risk factors for death. 26017327 2015
Peripheral Nervous System Diseases
CUI: C4721453
Disease: Peripheral Nervous System Diseases
0.020 GeneticVariation BEFREE The patient and some members of his family also had mild peripheral neuropathy suggesting a regional phenotypic heterogeneity of European Caucasian TTR p.Val122Ile. 22449240 2012