Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434511
rs121434511
AAMP ; PNKD
CUI: C1869117
Disease: Paroxysmal nonkinesigenic dyskinesia
Paroxysmal nonkinesigenic dyskinesia 		0.020 GeneticVariation BEFREE Two recurrent missense mutations (c.20C>T: A7V; c.26C>T: A9V) in the gene encoding the myofibrillogenesis regulator 1 (MR-1) have been shown to cause autosomal dominant paroxysmal nonkinesigenic dyskinesia (PNKD) in 13 families of primarily European ancestry. 16632198

2006
dbSNP: rs121434511
rs121434511
AAMP ; PNKD
CUI: C1869117
Disease: Paroxysmal nonkinesigenic dyskinesia
Paroxysmal nonkinesigenic dyskinesia 		0.020 GeneticVariation BEFREE The aim of this study was to describe the clinical features of a large Serbian family with paroxysmal nonkinesigenic dyskinesia (PNKD) and one of the two previously described mutations in the Myofibrillogenesis regulator 1 gene (MR-1), which causes an alanine-to-valine substitution at position 9. 16972263

2006