Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 7 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015420
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 7
EPILEPSY, PROGRESSIVE MYOCLONIC 7 		0.700 Biomarker disease GENOMICS_ENGLAND Loss of Function of KCNC1 is associated with intellectual disability without seizures. 28145425 2017
CUI: C4015420
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 7
EPILEPSY, PROGRESSIVE MYOCLONIC 7 		0.700 GeneticVariation disease CLINVAR Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties. 28380698 2017
CUI: C4015420
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 7
EPILEPSY, PROGRESSIVE MYOCLONIC 7 		0.700 CausalMutation disease CLINVAR Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties. 28380698 2017
CUI: C4015420
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 7
EPILEPSY, PROGRESSIVE MYOCLONIC 7 		0.700 GeneticVariation disease CLINVAR Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations. 27629860 2016
CUI: C4015420
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 7
EPILEPSY, PROGRESSIVE MYOCLONIC 7 		0.700 GeneticVariation disease UNIPROT A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015
CUI: C4015420
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 7
EPILEPSY, PROGRESSIVE MYOCLONIC 7 		0.700 CausalMutation disease CLINVAR A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015
CUI: C4015420
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 7
EPILEPSY, PROGRESSIVE MYOCLONIC 7 		0.700 GeneticVariation disease CLINVAR A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015
CUI: C4015420
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 7
EPILEPSY, PROGRESSIVE MYOCLONIC 7 		0.700 GermlineCausalMutation disease ORPHANET A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015
CUI: C4015420
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 7
EPILEPSY, PROGRESSIVE MYOCLONIC 7 		0.700 Biomarker disease GENOMICS_ENGLAND A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015
CUI: C4015420
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 7
EPILEPSY, PROGRESSIVE MYOCLONIC 7 		0.700 Biomarker disease GENOMICS_ENGLAND