NOL3, nucleolar protein 3, 8996

N. diseases: 100; N. variants: 5
Disease: MYOCLONUS, FAMILIAL CORTICAL ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3539916
Disease: MYOCLONUS, FAMILIAL CORTICAL
MYOCLONUS, FAMILIAL CORTICAL 		0.610 GeneticVariation disease UNIPROT Screening of mutations in NOL3 in a myoclonic syndromes series. 25138476 2014
CUI: C3539916
Disease: MYOCLONUS, FAMILIAL CORTICAL
MYOCLONUS, FAMILIAL CORTICAL 		0.610 GeneticVariation disease UNIPROT We propose that familial cortical myoclonus is a novel movement disorder that may be caused by mutation in NOL3. 22926851 2012
CUI: C3539916
Disease: MYOCLONUS, FAMILIAL CORTICAL
MYOCLONUS, FAMILIAL CORTICAL 		0.610 GermlineCausalMutation disease ORPHANET We propose that familial cortical myoclonus is a novel movement disorder that may be caused by mutation in NOL3. 22926851 2012
CUI: C3539916
Disease: MYOCLONUS, FAMILIAL CORTICAL
MYOCLONUS, FAMILIAL CORTICAL 		0.610 GeneticVariation disease BEFREE We propose that familial cortical myoclonus is a novel movement disorder that may be caused by mutation in NOL3. 22926851 2012
CUI: C3539916
Disease: MYOCLONUS, FAMILIAL CORTICAL
MYOCLONUS, FAMILIAL CORTICAL 		0.610 Biomarker disease CTD_human