THAP1, THAP domain containing 1, 55145

N. diseases: 51; N. variants: 27
Disease: Idiopathic familial dystonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393598
Disease: Idiopathic familial dystonia
Idiopathic familial dystonia 		0.500 Biomarker disease MGD Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia. 26376866 2015
CUI: C0393598
Disease: Idiopathic familial dystonia
Idiopathic familial dystonia 		0.500 Biomarker disease CTD_human Mutations in GNAL cause primary torsion dystonia. 23222958 2013