rs387906536, LYZ

N. diseases: 6
Disease: Amyloidosis, Familial ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Amyloidosis, Familial
CUI: C0740340
Disease: Amyloidosis, Familial
0.020 GeneticVariation BEFREE Hereditary amyloidosis with a variant lysozyme of p.Trp82Arg presented with dominant kidney involvement was firstly reported in a Chinese family. 31395023 2019
Amyloidosis, Familial
CUI: C0740340
Disease: Amyloidosis, Familial
0.020 GeneticVariation BEFREE We report a novel mutation (W64R) of the lysozyme that is associated with hereditary amyloidosis and prominent nephropathy. 11849445 2002