Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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
|
0.800 | GeneticVariation | UNIPROT | Targeted next generation sequencing as a diagnostic tool in epileptic disorders. | 22612257 | 2012 | |||||
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
|
0.800 | GeneticVariation | UNIPROT | Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. | 22693283 | 2012 | |||||
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
|
0.800 | CausalMutation | CLINVAR | ||||||||
EPILEPSY, PROGRESSIVE MYOCLONIC 3
|
0.800 | GeneticVariation | CLINVAR | ||||||||
Loss of speech
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Decreased palmar creases
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Gastrostomy tube feeding in infancy
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Synophrys
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Short stature
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Hypoplastic feet
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Generalized myoclonic seizures
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Flexion contracture
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Byzanthine arch palate
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Nevus flammeus nuchae
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Seizures
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Loss of ability to walk
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Nevus flammeus of the forehead
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Downward slant of palpebral fissure
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Deglutition Disorders
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Deep palmar crease
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Developmental regression
|
0.700 | GeneticVariation | CLINVAR | ||||||||
Short nose
|
0.700 | GeneticVariation | CLINVAR |