DisGeNET - a database of gene-disease associations

LYZ, lysozyme, 4069

N. diseases: 178; N. variants: 8

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121913547

Entrez Id:	4069
Gene Symbol:	LYZ

LYZ

CUI:	C0268389
Disease:

Amyloidosis, familial visceral

0.800

GeneticVariation

UNIPROT

Human lysozyme gene mutations cause hereditary systemic amyloidosis.

8464497

1993

dbSNP:

rs121913547

Entrez Id:	4069
Gene Symbol:	LYZ

LYZ

CUI:	C0268389
Disease:

Amyloidosis, familial visceral

0.800

CausalMutation

CLINVAR

dbSNP:

rs1800973

Entrez Id:	4069
Gene Symbol:	LYZ

LYZ

CUI:	C0023508
Disease:

White Blood Cell Count procedure

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs1800973

Entrez Id:	4069
Gene Symbol:	LYZ

LYZ

CUI:	C0149745
Disease:

Oral Ulcer

0.700

GeneticVariation

GWASCAT

Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci.

30837455

2019

dbSNP:

rs1800973

Entrez Id:	4069
Gene Symbol:	LYZ

LYZ

CUI:	C2985280
Disease:

Blood Protein Measurement

0.700

GeneticVariation

GWASCAT

Genomic atlas of the human plasma proteome.

29875488

2018

dbSNP:

rs1800973

Entrez Id:	4069
Gene Symbol:	LYZ

LYZ

CUI:	C0200637
Disease:

Monocyte count procedure

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs1800973

Entrez Id:	4069
Gene Symbol:	LYZ

LYZ

CUI:	C0750880
Disease:

Monocyte count result

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs1800973

Entrez Id:	4069
Gene Symbol:	LYZ

LYZ

CUI:	C0001973
Disease:

Alcoholic Intoxication, Chronic

0.700

GeneticVariation

GWASDB

Genome-wide association study of alcohol dependence.

19581569

2009

dbSNP:

rs121913548

Entrez Id:	4069
Gene Symbol:	LYZ

LYZ

CUI:	C0268389
Disease:

Amyloidosis, familial visceral

0.700

GeneticVariation

UNIPROT

Human lysozyme gene mutations cause hereditary systemic amyloidosis.

8464497

1993

dbSNP:

rs121913549

Entrez Id:	4069
Gene Symbol:	LYZ

LYZ

CUI:	C0268389
Disease:

Amyloidosis, familial visceral

0.700

CausalMutation

CLINVAR

dbSNP:

rs387906535

Entrez Id:	4069
Gene Symbol:	LYZ

LYZ

CUI:	C0268389
Disease:

Amyloidosis, familial visceral

0.700

CausalMutation

CLINVAR

dbSNP:

rs387906536

Entrez Id:	4069
Gene Symbol:	LYZ

LYZ

CUI:	C0268389
Disease:

Amyloidosis, familial visceral

0.700

CausalMutation

CLINVAR

dbSNP:

rs387906536

Entrez Id:	4069
Gene Symbol:	LYZ

LYZ

CUI:	C0268389
Disease:

Amyloidosis, familial visceral

0.700

CausalMutation

CLINVAR

dbSNP:

rs387906536

Entrez Id:	4069
Gene Symbol:	LYZ

LYZ

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

dbSNP:

rs387906536

Entrez Id:	4069
Gene Symbol:	LYZ

LYZ

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

dbSNP:

rs387906536

Entrez Id:	4069
Gene Symbol:	LYZ

LYZ

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

dbSNP:

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:

rs387906535

Entrez Id:	4069
Gene Symbol:	LYZ

LYZ

CUI:	C4081731
Disease:

Hereditary systemic amyloidosis

0.020

GeneticVariation

BEFREE

In this study, various ethanol- and temperature-induced molecular dynamics simulations were conducted to investigate the conformational changes of several human lysozyme variants (I56T, D67H, and T70N) associated with hereditary systemic amyloidosis.

17269695

2008

dbSNP:

rs1800973

Entrez Id:	4069
Gene Symbol:	LYZ

LYZ

CUI:	C0002726
Disease:

Amyloidosis

0.020

GeneticVariation

BEFREE

ALys amyloidosis caused by compound heterozygosity in exon 2 (Thr70Asn) and exon 4 (Trp112Arg) of the lysozyme gene.

16329101

2006

dbSNP:

rs1800973

Entrez Id:	4069
Gene Symbol:	LYZ

LYZ

CUI:	C0002726
Disease:

Amyloidosis

0.020

GeneticVariation

BEFREE

Rationalising lysozyme amyloidosis: insights from the structure and solution dynamics of T70N lysozyme.

16126226

2005

dbSNP:

rs387906535

Entrez Id:	4069
Gene Symbol:	LYZ

LYZ

CUI:	C4081731
Disease:

Hereditary systemic amyloidosis

0.020

GeneticVariation

BEFREE

Formation of amyloid deposits from the Ile56Thr or Asp67His variants of human lysozyme is a hallmark of autosomal hereditary systemic amyloidosis.

15155566

2004

dbSNP:

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:

rs387906536

Entrez Id:	4069
Gene Symbol:	LYZ

LYZ

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

dbSNP:

rs121913549

Entrez Id:	4069
Gene Symbol:	LYZ

LYZ

CUI:	C0002726
Disease:

Amyloidosis

0.010

GeneticVariation

BEFREE

To improve understanding of the processes involved we expressed human wild type (WT) lysozyme and the disease-associated variant F57I in the central nervous system (CNS) of a Drosophila melanogaster model of lysozyme amyloidosis, with and without co-expression of serum amyloid p component (SAP).

27428539

2016

dbSNP:

rs387906536

Entrez Id:	4069
Gene Symbol:	LYZ

LYZ

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