Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hepatolenticular Degeneration
CUI: C0019202
Disease: Hepatolenticular Degeneration
0.010 GeneticVariation BEFREE Three polymorphisms of DBH (rs1611115 in the promoter, rs1108580 in exon 2 and rs129882 in 3'-UTR) were screened for their association with the clinical attributes (hepatic and neurological features) and age of onset of WD using a polymerase chain reaction-restriction fragment length polymorphsm method and sequencing approach. 31265749 2019