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: rs587777162
rs587777162
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C4225337
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 		T 0.800 CausalMutation CLINVAR Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death. 28911200 2017
dbSNP: rs587777162
rs587777162
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C4225337
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 		T 0.800 CausalMutation CLINVAR Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice. 28378778 2017
dbSNP: rs587777162
rs587777162
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C4225337
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 		0.800 GeneticVariation UNIPROT Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. 23647072 2013
dbSNP: rs587777162
rs587777162
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C4225337
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 		0.800 GeneticVariation UNIPROT Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
dbSNP: rs886039346
rs886039346
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C4225337
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 		A 0.700 GeneticVariation CLINVAR Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death. 28911200 2017
dbSNP: rs1555883505
rs1555883505
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C4225337
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 		A 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
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: rs886039346
rs886039346
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C4225337
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 		A 0.700 GeneticVariation CLINVAR Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability. 27441201 2016
dbSNP: rs886042041
rs886042041
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C4225337
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 		T 0.700 GeneticVariation 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 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: rs1405800415
rs1405800415
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C4225337
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555883384
rs1555883384
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C4225337
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555883501
rs1555883501
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C4225337
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555883505
rs1555883505
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C4225337
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1568994522
rs1568994522
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C4225337
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs786205866
rs786205866
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C4225337
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 		T 0.700 GeneticVariation CLINVAR