THAP1, THAP domain containing 1, 55145

N. diseases: 45; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752202
Disease: Childhood Onset Dystonias
Childhood Onset Dystonias
0.300 Biomarker disease CTD_human Mutations in GNAL cause primary torsion dystonia. 23222958 2013