rs1800973, LYZ

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
White Blood Cell Count procedure
CUI: C0023508
Disease: White Blood Cell Count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Oral Ulcer
CUI: C0149745
Disease: Oral Ulcer
0.700 GeneticVariation GWASCAT Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci. 30837455 2019
Blood Protein Measurement
CUI: C2985280
Disease: Blood Protein Measurement
0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
Monocyte count procedure
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
Monocyte count result
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
Alcoholic Intoxication, Chronic
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
0.700 GeneticVariation GWASDB Genome-wide association study of alcohol dependence. 19581569 2009
Amyloidosis
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
Amyloidosis
CUI: C0002726
Disease: Amyloidosis
0.020 GeneticVariation BEFREE Rationalising lysozyme amyloidosis: insights from the structure and solution dynamics of T70N lysozyme. 16126226 2005
Hereditary systemic amyloidosis
CUI: C4081731
Disease: Hereditary systemic amyloidosis
0.010 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
Amyloid nephropathy
CUI: C0268382
Disease: Amyloid nephropathy
0.010 GeneticVariation BEFREE From our results, a clear relation between the Thr70Asn polymorphism and renal amyloidosis could not be demonstrated. 12675840 2003