rs387907260, KCTD7

N. diseases: 22
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EPILEPSY, PROGRESSIVE MYOCLONIC 3
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
0.800 GeneticVariation UNIPROT A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. 22748208 2012
EPILEPSY, PROGRESSIVE MYOCLONIC 3
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257 2012
EPILEPSY, PROGRESSIVE MYOCLONIC 3
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
0.800 GeneticVariation UNIPROT Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy. 22606975 2012
EPILEPSY, PROGRESSIVE MYOCLONIC 3
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
0.800 GeneticVariation UNIPROT Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. 22693283 2012
EPILEPSY, PROGRESSIVE MYOCLONIC 3
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
0.800 GeneticVariation UNIPROT Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. 17455289 2007
EPILEPSY, PROGRESSIVE MYOCLONIC 3
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
0.800 CausalMutation CLINVAR
EPILEPSY, PROGRESSIVE MYOCLONIC 3
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
0.800 GeneticVariation CLINVAR