THAP1, THAP domain containing 1, 55145

N. diseases: 51; N. variants: 27
Disease: Familial Dystonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752207
Disease: Familial Dystonia
Familial Dystonia 		0.310 Biomarker disease CTD_human Mutations in GNAL cause primary torsion dystonia. 23222958 2013
CUI: C0752207
Disease: Familial Dystonia
Familial Dystonia 		0.310 GeneticVariation disease BEFREE We are not aware of any previous descriptions of familial dystonia in African-Americans or reports of THAP1 mutations in African-Americans. 21601506 2011