Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea
0.010 GeneticVariation disease BEFREE We report on a three-generation Italian family, with 6 subjects presenting BHC and harboring a genomic deletion adjacent to NKX2-1 and including the gene MBIP, recently proposed to be relevant for the pathogenesis of brain-lung-thyroid syndrome. 29621620 2018