KIF5A, kinesin family member 5A, 3798

N. diseases: 112; N. variants: 28
Disease: MYOCLONUS, INTRACTABLE, NEONATAL ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310658
Disease: MYOCLONUS, INTRACTABLE, NEONATAL
MYOCLONUS, INTRACTABLE, NEONATAL 		0.600 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
CUI: C4310658
Disease: MYOCLONUS, INTRACTABLE, NEONATAL
MYOCLONUS, INTRACTABLE, NEONATAL 		0.600 Biomarker disease GENOMICS_ENGLAND KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy. 27414745 2017
CUI: C4310658
Disease: MYOCLONUS, INTRACTABLE, NEONATAL
MYOCLONUS, INTRACTABLE, NEONATAL 		0.600 Biomarker disease CTD_human
CUI: C4310658
Disease: MYOCLONUS, INTRACTABLE, NEONATAL
MYOCLONUS, INTRACTABLE, NEONATAL 		0.600 CausalMutation disease CLINVAR