LYZ, lysozyme, 4069

N. diseases: 178; N. variants: 8
Disease: Amyloidosis, Familial ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906536
rs387906536
Entrez Id: 4069
Gene Symbol: LYZ
LYZ
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
dbSNP: rs387906536
rs387906536
Entrez Id: 4069
Gene Symbol: LYZ
LYZ
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
dbSNP: rs121913547
rs121913547
Entrez Id: 4069
Gene Symbol: LYZ
LYZ
CUI: C0740340
Disease:
Amyloidosis, Familial 		0.010 GeneticVariation BEFREE A non-natural variant of human lysozyme (I59T) mimics the in vitro behaviour of the I56T variant that is responsible for a form of familial amyloidosis. 20382744 2010
dbSNP: rs1363507110
rs1363507110
Entrez Id: 4069
Gene Symbol: LYZ
LYZ
CUI: C0740340
Disease:
Amyloidosis, Familial 		0.010 GeneticVariation BEFREE A non-natural variant of human lysozyme (I59T) mimics the in vitro behaviour of the I56T variant that is responsible for a form of familial amyloidosis. 20382744 2010