LYZ, lysozyme, 4069

N. diseases: 178; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4081731
Disease: Hereditary systemic amyloidosis
Hereditary systemic amyloidosis
0.090 Biomarker disease BEFREE Lysozyme amyloidosis is a rare hereditary systemic amyloidosis with amyloid deposits in various tissues leading to progressive organ failure. 31395023 2019
CUI: C4081731
Disease: Hereditary systemic amyloidosis
Hereditary systemic amyloidosis
0.090 Biomarker disease BEFREE General significance These results, in addition to our previous studies on α-synuclein and GFAP, confirm the property of ceftriaxone to inhibit the pathological protein aggregation of lysozyme also by a chaperone-like mechanism, extending the potential therapeutic application of this molecule to some forms of human hereditary systemic amyloidosis. 29524538 2018
CUI: C4081731
Disease: Hereditary systemic amyloidosis
Hereditary systemic amyloidosis
0.090 GeneticVariation disease BEFREE Lysozyme amyloidosis (ALys) is a rare autosomal dominant hereditary systemic amyloidosis associated with a large spectrum of clinical manifestations. 28963698 2017
CUI: C4081731
Disease: Hereditary systemic amyloidosis
Hereditary systemic amyloidosis
0.090 GeneticVariation disease BEFREE Populating transient and partially unfolded species is a crucial step in the formation and accumulation of amyloid fibrils formed from pathogenic variants of human lysozyme linked with a rare but fatal hereditary systemic amyloidosis. 29101328 2017
CUI: C4081731
Disease: Hereditary systemic amyloidosis
Hereditary systemic amyloidosis
0.090 GeneticVariation disease BEFREE Insights into the conformational changes of several human lysozyme variants associated with hereditary systemic amyloidosis. 17269695 2008
CUI: C4081731
Disease: Hereditary systemic amyloidosis
Hereditary systemic amyloidosis
0.090 Biomarker disease BEFREE Mutations in a number of plasma proteins, including transthyretin, apolipoprotein AI, fibrinogen Aalpha-chain, lysozyme, and apolipoprotein AII, are associated with hereditary systemic amyloidosis. 16011983 2005
CUI: C4081731
Disease: Hereditary systemic amyloidosis
Hereditary systemic amyloidosis
0.090 GeneticVariation disease BEFREE Formation of amyloid deposits from the Ile56Thr or Asp67His variants of human lysozyme is a hallmark of autosomal hereditary systemic amyloidosis. 15155566 2004
CUI: C4081731
Disease: Hereditary systemic amyloidosis
Hereditary systemic amyloidosis
0.090 GeneticVariation disease BEFREE Two kindreds with hereditary systemic amyloidosis caused by the first two mutations to be described in the human lysozyme gene were discovered recently and study of the variant lysozyme has been powerfully informative about mechanisms of amyloid fibrillogenesis. 10534505 1999
CUI: C4081731
Disease: Hereditary systemic amyloidosis
Hereditary systemic amyloidosis
0.090 GeneticVariation disease BEFREE Human lysozyme gene mutations cause hereditary systemic amyloidosis. 8464497 1993