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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
|
27108799 |
2016 |
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
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in G protein β subunits promote transformation and kinase inhibitor resistance.
|
25485910 |
2015 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.
|
28087732 |
2017 |
Limb hypertonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
|
27108799 |
2016 |
Infantile muscular hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
|
27108799 |
2016 |
EEG with generalized epileptiform discharges
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
|
27108799 |
2016 |
Cortical visual impairment
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
|
27108799 |
2016 |
Multifocal epileptiform discharges
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
|
27108799 |
2016 |
Developmental regression
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
|
27108799 |
2016 |
Strabismus
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
|
27108799 |
2016 |
Feeding difficulties
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
|
27108799 |
2016 |
Multifocal epileptiform discharges
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
|
27108799 |
2016 |
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
|
27108799 |
2016 |
Limb hypertonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
|
27108799 |
2016 |
Seizures
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
|
27108799 |
2016 |
Global developmental delay
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
|
27108799 |
2016 |
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability.
|
27668284 |
2016 |
Pediatric failure to thrive
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
|
27108799 |
2016 |
Expressive language delay
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
|
27108799 |
2016 |
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
|
27108799 |
2016 |
Pediatric failure to thrive
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.
|
27108799 |
2016 |