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: rs786205865
rs786205865
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C4225343
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 		0.800 GeneticVariation UNIPROT
dbSNP: rs786205865
rs786205865
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C4225343
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 		G 0.800 CausalMutation CLINVAR
dbSNP: rs786205866
rs786205866
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C4225343
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 		T 0.800 CausalMutation CLINVAR
dbSNP: rs786205866
rs786205866
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C4225343
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 		0.800 GeneticVariation UNIPROT
dbSNP: rs1555883505
rs1555883505
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation 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: C0026827
Disease:
Muscle hypotonia 		A 0.700 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: C0026827
Disease:
Muscle hypotonia 		T 0.700 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: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice. 28378778 2017
dbSNP: rs786205866
rs786205866
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice. 28378778 2017
dbSNP: rs786205866
rs786205866
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death. 28911200 2017
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: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations. 26682508 2016
dbSNP: rs1555883505
rs1555883505
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C0005697
Disease:
Neurogenic Urinary Bladder 		A 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
dbSNP: rs1555883505
rs1555883505
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C0037317
Disease:
Sleep disturbances 		A 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
dbSNP: rs1555883505
rs1555883505
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C0080274
Disease:
Urinary Retention 		A 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
dbSNP: rs1555883505
rs1555883505
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability. 27441201 2016
dbSNP: rs1555883505
rs1555883505
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Identification of novel genetic causes of Rett syndrome-like phenotypes. 26740508 2016
dbSNP: rs1555883505
rs1555883505
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C0036572
Disease:
Seizures 		A 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
dbSNP: rs1555883505
rs1555883505
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C0042580
Disease:
Vesico-Ureteral Reflux 		A 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
dbSNP: rs1555883505
rs1555883505
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C1843367
Disease:
Poor school performance 		A 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
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