rs895293055, MED20

N. diseases: 5
Disease: Basal ganglion degeneration ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Basal ganglion degeneration
CUI: C0854279
Disease: Basal ganglion degeneration
0.010 GeneticVariation BEFREE We identified the first and homozygous mutation (p.Gly114Ala) in the Mediator subunit 20 gene (MED20) in siblings presenting with infantile-onset spasticity and childhood-onset dystonia, progressive basal ganglia degeneration, and brain atrophy. 25446406 2015