TMEM240, transmembrane protein 240, 339453

N. diseases: 40; N. variants: 8
Disease: Hyperkinesia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia 		0.010 Biomarker phenotype BEFREE Our results characterize SCA21 as a multisystem disorder with substantial extra-cerebellar involvement, including a wide spectrum of hypo- as well as hyperkinetic movement disorders as well as damage to the midbrain, corticospinal tract and peripheral nerves. 30522958 2019