Disease: Unverricht-Lundborg Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		0.320 GeneticVariation disease BEFREE To our best knowledge, this is the first report that demonstrates a single PRICKLE1 pathogenic variant segregating with PME in one family. 31035234 2019
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		0.320 GermlineCausalMutation disease ORPHANET A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. 18976727 2008
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		0.320 GeneticVariation disease BEFREE This represents a new form of PME and we have designated the locus as EPM1B. 15634728 2005