GNB1, G protein subunit beta 1, 2782

N. diseases: 83; N. variants: 15
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310774
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 		0.700 GeneticVariation disease CLINVAR Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. 30194818 2018
CUI: C4310774
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 		0.700 GeneticVariation disease UNIPROT Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans. 28087732 2017
CUI: C4310774
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 		0.700 GeneticVariation disease UNIPROT Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799 2016
CUI: C4310774
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 		0.700 Biomarker disease GENOMICS_ENGLAND Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799 2016
CUI: C4310774
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 		0.700 GeneticVariation disease UNIPROT Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability. 27668284 2016
CUI: C4310774
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 		0.700 Biomarker disease GENOMICS_ENGLAND Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. 25529582 2015
CUI: C4310774
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 		0.700 GeneticVariation disease UNIPROT Mutations in G protein β subunits promote transformation and kinase inhibitor resistance. 25485910 2015
CUI: C4310774
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 		0.700 CausalMutation disease CLINVAR
CUI: C4310774
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 		0.700 Biomarker disease CTD_human