Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
EPILEPSY, PROGRESSIVE MYOCLONIC 7
|
0.800 | GeneticVariation | UNIPROT | ||||||||
Myoclonus
|
0.710 | CausalMutation | CLINVAR | ||||||||
Reduced tendon reflexes
|
0.700 | CausalMutation | CLINVAR | ||||||||
Developmental regression
|
0.700 | CausalMutation | CLINVAR | ||||||||
Facial diplegia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Electroencephalogram abnormal
|
0.700 | CausalMutation | CLINVAR | ||||||||
Cerebellar Dysmetria
|
0.700 | CausalMutation | CLINVAR | ||||||||
Dysdiadochokinesis
|
0.700 | CausalMutation | CLINVAR | ||||||||
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
|
0.700 | CausalMutation | CLINVAR | ||||||||
Poor speech
|
0.700 | CausalMutation | CLINVAR | ||||||||
Gait imbalance
|
0.700 | CausalMutation | CLINVAR | ||||||||
Fasciculation, Tongue
|
0.700 | CausalMutation | CLINVAR | ||||||||
Menorrhagia
|
0.700 | CausalMutation | CLINVAR | ||||||||
Generalized myoclonic seizures
|
0.700 | CausalMutation | CLINVAR | ||||||||
Mental deterioration
|
0.700 | CausalMutation | CLINVAR | ||||||||
Dysarthria
|
0.700 | CausalMutation | CLINVAR | ||||||||
Irregular Menstruation
|
0.700 | CausalMutation | CLINVAR | ||||||||
Increased cup-to-disc ratio
|
0.700 | CausalMutation | CLINVAR | ||||||||
Limb myoclonus
|
0.700 | CausalMutation | CLINVAR | ||||||||
Choking episodes
|
0.700 | CausalMutation | CLINVAR | ||||||||
EPILEPSY, PROGRESSIVE MYOCLONIC 7
|
0.800 | CausalMutation | CLINVAR | A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. | 25401298 | 2015 | |||||
Unverricht-Lundborg Syndrome
|
0.020 | GeneticVariation | BEFREE | Remarkably, a recurrent de novo mutation, c.959G>A (p.Arg320His), in KCNC1 was identified as a new major cause for PME. | 25401298 | 2015 | |||||
Unverricht-Lundborg Syndrome
|
0.020 | GeneticVariation | BEFREE | Remarkably, a recurrent de novo mutation, c.959G>A (p.Arg320His), in KCNC1 was identified as a new major cause for PME. | 25401298 | 2015 | |||||
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 | |||||
Myoclonic Epilepsies, Progressive
|
0.020 | GeneticVariation | BEFREE | p.(Arg320His) mutation in the KCNC1 gene in human 11p15.1 has recently been identified in patients with progressive myoclonus epilepsies, a group of rare inherited disorders manifesting with action myoclonus, myoclonic epilepsy, and ataxia. | 28145425 | 2017 |