THAP1, THAP domain containing 1, 55145

N. diseases: 51; N. variants: 27
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2875058
Disease: Familial torsion dystonia
Familial torsion dystonia
0.200 Biomarker disease MGD Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia. 26376866 2015