rs727502818, KCNC1

N. diseases: 26
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EPILEPSY, PROGRESSIVE MYOCLONIC 7
CUI: C4015420
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 7
0.800 CausalMutation CLINVAR Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties. 28380698 2017
EPILEPSY, PROGRESSIVE MYOCLONIC 7
CUI: C4015420
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 7
0.800 CausalMutation CLINVAR A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015
EPILEPSY, PROGRESSIVE MYOCLONIC 7
CUI: C4015420
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 7
0.800 GeneticVariation UNIPROT
Myoclonus
CUI: C0027066
Disease: Myoclonus
0.710 GeneticVariation BEFREE A recurrent p.Arg320His mutation in KCNC1 was identified in the two brothers who showed characteristic features of MEAK: near normal early development, onset of myoclonus around 10 years of age, infrequent generalized tonic-clonic seizures, relatively mild cognitive impairment, and generalized epileptiform discharges. 29428275 2018
Myoclonus
CUI: C0027066
Disease: Myoclonus
0.710 CausalMutation CLINVAR
Reduced tendon reflexes
CUI: C1866934
Disease: Reduced tendon reflexes
0.700 CausalMutation CLINVAR
Developmental regression
CUI: C1836830
Disease: Developmental regression
0.700 CausalMutation CLINVAR
Facial diplegia
CUI: C1836003
Disease: Facial diplegia
0.700 CausalMutation CLINVAR
Electroencephalogram abnormal
CUI: C0151611
Disease: Electroencephalogram abnormal
0.700 CausalMutation CLINVAR
Cerebellar Dysmetria
CUI: C0234162
Disease: Cerebellar Dysmetria
0.700 CausalMutation CLINVAR
Dysdiadochokinesis
CUI: C0234979
Disease: Dysdiadochokinesis
0.700 CausalMutation CLINVAR
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR
Poor speech
CUI: C1848207
Disease: Poor speech
0.700 CausalMutation CLINVAR
Gait imbalance
CUI: C1836150
Disease: Gait imbalance
0.700 CausalMutation CLINVAR
Fasciculation, Tongue
CUI: C0239548
Disease: Fasciculation, Tongue
0.700 CausalMutation CLINVAR
Menorrhagia
CUI: C0025323
Disease: Menorrhagia
0.700 CausalMutation CLINVAR
Generalized myoclonic seizures
CUI: C4021759
Disease: Generalized myoclonic seizures
0.700 CausalMutation CLINVAR
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
0.700 CausalMutation CLINVAR
Dysarthria
CUI: C0013362
Disease: Dysarthria
0.700 CausalMutation CLINVAR
Irregular Menstruation
CUI: C0156404
Disease: Irregular Menstruation
0.700 CausalMutation CLINVAR
Increased cup-to-disc ratio
CUI: C3805911
Disease: Increased cup-to-disc ratio
0.700 CausalMutation CLINVAR
Limb myoclonus
CUI: C4477055
Disease: Limb myoclonus
0.700 CausalMutation CLINVAR
Choking episodes
CUI: C4280747
Disease: Choking episodes
0.700 CausalMutation CLINVAR
Myoclonic Epilepsies, Progressive
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
0.020 GeneticVariation BEFREE To analyze clinical phenotypes associated with KCNC1 variants other than the Progressive Myoclonus Epilepsy-causing variant p.Arg320His, determine the electrophysiological functional impact of identified variants and explore genotype-phenotype-physiological correlations. 31353855 2019
Unverricht-Lundborg Syndrome
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
0.020 GeneticVariation BEFREE Recently, a mutation in the KCNC1 gene (Arg320His) was described in a group of PME patients. 29894724 2018