Source: CURATED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Gelastic Epilepsy
CUI: C0270820
Disease: Gelastic Epilepsy
0.700 GeneticVariation CLINVAR
Esotropia
CUI: C0014877
Disease: Esotropia
0.700 GeneticVariation CLINVAR
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 GeneticVariation CLINVAR
Reduced brain choline level by MRS
CUI: C4476567
Disease: Reduced brain choline level by MRS
0.700 GeneticVariation CLINVAR
Dysautonomia
CUI: C0013363
Disease: Dysautonomia
0.700 GeneticVariation CLINVAR
Drooling
CUI: C0013132
Disease: Drooling
0.700 GeneticVariation CLINVAR
Complex partial seizure with impairment of consciousness
CUI: C0270834
Disease: Complex partial seizure with impairment of consciousness
0.700 GeneticVariation CLINVAR
Tonic - clonic seizures
CUI: C0494475
Disease: Tonic - clonic seizures
0.700 GeneticVariation CLINVAR
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
0.700 GeneticVariation CLINVAR
Salaam Seizures
CUI: C1527366
Disease: Salaam Seizures
0.700 GeneticVariation CLINVAR
Epileptic drop attack
CUI: C0270846
Disease: Epileptic drop attack
0.700 GeneticVariation CLINVAR
Intermittent fever
CUI: C0277799
Disease: Intermittent fever
0.700 GeneticVariation CLINVAR
CNS hypomyelination
CUI: C4025616
Disease: CNS hypomyelination
0.700 GeneticVariation CLINVAR
Lower limb hypertonia
CUI: C1845245
Disease: Lower limb hypertonia
0.700 GeneticVariation CLINVAR
Myoclonus
CUI: C0027066
Disease: Myoclonus
0.700 GeneticVariation CLINVAR