Disease: Muscle hypotonia ×
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: 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: rs786205866
rs786205866
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Identification of novel genetic causes of Rett syndrome-like phenotypes. 26740508 2016
dbSNP: rs786205866
rs786205866
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation 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: C0026827
Disease:
Muscle hypotonia 		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: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation 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: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. 23647072 2013
dbSNP: rs786205866
rs786205866
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
dbSNP: rs786205866
rs786205866
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR eEF1A2 and neuronal degeneration. 19909265 2009
dbSNP: rs786205866
rs786205866
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Structural models of human eEF1A1 and eEF1A2 reveal two distinct surface clusters of sequence variation and potential differences in phosphorylation. 19636410 2009