rs121913547, LYZ

N. diseases: 7
Disease: Petechiae ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Petechiae
CUI: C0031256
Disease: Petechiae
0.010 GeneticVariation BEFREE The phenotype, reported for the first time in this extended kindred, contrasts with that of an apparently unrelated family carrying the same mutation who presented with spontaneous hepatic haemorrhage and rupture, and with the manifestations in a family with the lysozyme Ile56Thr variant who presented with dermal petechiae before proceeding to fatal visceral amyloidosis. 10534505 1999