TOR1A, torsin family 1 member A, 1861

N. diseases: 115; N. variants: 14
Disease: Cerebral dysfunction ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0262405
Disease: Cerebral dysfunction
Cerebral dysfunction 		0.010 Biomarker disease BEFREE To determine the metabolic substrates of brain dysfunction in DYT1 dystonia, we scanned 7 nonmanifesting and 10 affected DYT1 carriers and 14 normal volunteers with [18F]fluorodeoxyglucose and positron emission tomography. 9749595 1998