STOM, stomatin, 2040

N. diseases: 39; N. variants: 1
Disease: DYSTONIA 18 (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
DYSTONIA 18 (disorder) 		0.010 Biomarker disease BEFREE Recently paroxysmal exertion-induced dyskinesia and stomatin-deficient cryohydrocytosis have been identified as an allelic disorder to GLUT1 deficiency equally responding to a ketogenic diet. 23622389 2013