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: C0752202
Disease: Childhood Onset Dystonias
Childhood Onset Dystonias
0.310 Biomarker disease CTD_human Mutations in GNAL cause primary torsion dystonia. 23222958 2013
CUI: C0752202
Disease: Childhood Onset Dystonias
Childhood Onset Dystonias
0.310 AlteredExpression disease BEFREE These studies establish a role for THAP1 transcriptional regulation at the inception of myelination and implicate abnormal timing of myelination in the pathogenesis of childhood-onset dystonia. 28697333 2017