Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.420 GeneticVariation phenotype BEFREE A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy. 31185419 2019
CUI: C0036572
Disease: Seizures
Seizures 		0.420 GeneticVariation phenotype BEFREE Truncation mutations in SMC1A cause a severe epilepsy phenotype with cluster seizures in females. 28166369 2017
CUI: C0036572
Disease: Seizures
Seizures 		0.420 Biomarker phenotype GENOMICS_ENGLAND Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A. 26358754 2015
CUI: C0036572
Disease: Seizures
Seizures 		0.420 CausalMutation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.420 Biomarker phenotype HPO