Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans. 28087732

2017
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans. 28087732

2017
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability. 27668284

2016
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability. 27668284

2016
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Mutations in G protein β subunits promote transformation and kinase inhibitor resistance. 25485910

2015
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Mutations in G protein β subunits promote transformation and kinase inhibitor resistance. 25485910

2015
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Genomic characterization of the human heterotrimeric G protein alpha, beta, and gamma subunit genes. 10819326

2000
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation CLINVAR Genomic characterization of the human heterotrimeric G protein alpha, beta, and gamma subunit genes. 10819326

2000