rs752746786, GNB1

N. diseases: 30
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
CUI: C4310774
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
0.800 GeneticVariation UNIPROT Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans. 28087732 2017
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
CUI: C4310774
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
0.800 GeneticVariation UNIPROT Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799 2016
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
CUI: C4310774
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
0.800 GeneticVariation UNIPROT Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability. 27668284 2016
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
CUI: C4310774
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
0.800 GeneticVariation UNIPROT Mutations in G protein β subunits promote transformation and kinase inhibitor resistance. 25485910 2015
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
CUI: C4310774
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
0.800 CausalMutation CLINVAR
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
CUI: C4310774
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
0.800 CausalMutation CLINVAR