Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205866
rs786205866
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C4225337
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 		T 0.700 CausalMutation CLINVAR Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability. 27441201 2016
dbSNP: rs786205866
rs786205866
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C4225337
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 		T 0.700 CausalMutation CLINVAR Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations. 26682508 2016
dbSNP: rs786205866
rs786205866
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C4225337
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 		T 0.700 CausalMutation CLINVAR De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy. 24697219 2015
dbSNP: rs786205866
rs786205866
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C4225337
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 		T 0.700 CausalMutation CLINVAR Mutations in elongation factor EF-1 alpha affect the frequency of frameshifting and amino acid misincorporation in Saccharomyces cerevisiae. 3066688 1988
dbSNP: rs786205866
rs786205866
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C4225337
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 		T 0.700 GeneticVariation CLINVAR