CSTB, cystatin B, 1476

N. diseases: 155; N. variants: 14
Disease: Tonic - clonic seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.120 Biomarker disease BEFREE The most frequent early manifestations of ULD include generalized tonic-clonic seizures (GTCS) accompanied by myoclonus 2 years later. 30999254 2019
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.120 Biomarker disease BEFREE Loss-of-function mutations in the cystatin B (CSTB), a cysteine protease inhibitor, gene underlie progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1), characterized by myoclonic and tonic-clonic seizures, ataxia and a progressive course. 15483648 2005
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.120 Biomarker disease HPO