rs387906536, LYZ

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Amyloidosis, familial visceral
CUI: C0268389
Disease: Amyloidosis, familial visceral
0.700 CausalMutation CLINVAR
Amyloidosis, familial visceral
CUI: C0268389
Disease: Amyloidosis, familial visceral
0.700 CausalMutation CLINVAR
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
0.030 GeneticVariation BEFREE Here we report a lysozyme amyloidosis family with variant lysozyme p.Trp82Arg in a Chinese family. 31395023 2019
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
0.030 GeneticVariation BEFREE The literature review highlights that hereditary ALys with the p.Trp82Arg variant is frequent in patients coming from Piedmont (Italy). 28963698 2017
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
0.030 GeneticVariation BEFREE Clinical manifestations and organ involvement of nine affected members of a new family with the p.</span>Trp82Arg ALys variant were recorded. 25217048 2014
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
Amyloid nephropathy
CUI: C0268382
Disease: Amyloid nephropathy
0.010 GeneticVariation BEFREE Hereditary renal amyloidosis with a variant lysozyme p.Trp82Arg in a Chinese family: case report and literature review. 31395023 2019
Inflammatory Bowel Diseases
CUI: C0021390
Disease: Inflammatory Bowel Diseases
0.010 GeneticVariation BEFREE Hereditary amyloidosis associated with the p.Trp82Arg lysozyme variant in this new family is predominantly associated with mild upper gastrointestinal tract involvement and in some cases with inflammatory bowel disease. 25217048 2014
Kidney Diseases
CUI: C0022658
Disease: Kidney Diseases
0.010 GeneticVariation BEFREE We report a novel mutation (W64R) of the lysozyme that is associated with hereditary amyloidosis and prominent nephropathy. 11849445 2002