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: C0752206
Disease: Dystonias, Sporadic
Dystonias, Sporadic
0.300 Biomarker disease CTD_human Mutations in GNAL cause primary torsion dystonia. 23222958 2013