Gene: GNB1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		0.420 GeneticVariation disease BEFREE Notably, pathogenic substitutions of the homologous Gly77 residue including an identical variant (p.Gly77Arg, p.Gly77Val, p.Gly77Ser, p.Gly77Ala) of GNB1, a paralog of GNB2, was reported in individuals with global developmental delay and hypotonia. 31698099 2019
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		0.420 GeneticVariation disease BEFREE 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 		0.420 Biomarker disease GENOMICS_ENGLAND 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 		0.420 CausalMutation disease CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799 2016
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		0.420 GeneticVariation disease CLINVAR
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		0.420 Biomarker disease HPO