Disease: Muscle hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR GABAA receptor subunit gene polymorphisms predict symptom-based and developmental deficits in Chinese Han children and adolescents with autistic spectrum disorders. 28607477 2017
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR A mutation in GABRB3 associated with Dravet syndrome. 28544625 2017
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. 28053010 2017
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy. 26645412 2016
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function. 26950270 2016
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population. 27622563 2016
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders. 24999380 2014
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013
dbSNP: rs1555401440
rs1555401440
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. 18514161 2008