rs1799990, PRNP

N. diseases: 23
Disease: Hepatolenticular Degeneration ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.020 GeneticVariation BEFREE Two APOE cSNPs (rs429358 and rs7412) resulting in three isoforms and M129V (rs1799990) polymorphism of PRNP were examined for their association with WD and its clinical phenotypes. 29059476 2018
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.020 GeneticVariation BEFREE Two APOE cSNPs (rs429358 and rs7412) resulting in three isoforms and M129V (rs1799990) polymorphism of PRNP were examined for their association with WD and its clinical phenotypes. 29059476 2018
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.020 GeneticVariation BEFREE This study shows for the first time, to our knowledge, that the human PrP polymorphism M129V influences the onset of symptoms in patients with the copper storage disorder Wilson disease. 16831968 2006