MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
|
25972378 |
2015 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
|
26168268 |
2015 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Large-scale discovery of novel genetic causes of developmental disorders.
|
25533962 |
2015 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
|
26168268 |
2015 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
|
26168268 |
2015 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
|
25972378 |
2015 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 35
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Intellectual Disability
|
0.410 |
GeneticVariation
|
group |
BEFREE |
Our data provides further support for PPP2R5D as a genetic cause of ID.
|
26576547 |
2016 |
Intellectual Disability
|
0.410 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Large-scale discovery of novel genetic causes of developmental disorders.
|
25533962 |
2015 |
Intellectual Disability
|
0.410 |
Biomarker
|
group |
HPO |
|
|
|
Neurodevelopmental Disorders
|
0.300 |
Biomarker
|
group |
CTD_human |
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
|
28191889 |
2017 |
Macrocephaly
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Using whole-exome sequencing (WES), we identified four de novo variants in PPP2R5D in a total of seven unrelated individuals with intellectual disability (ID) and other shared clinical characteristics, including autism spectrum disorder, macrocephaly, hypotonia, seizures, and dysmorphic features.
|
26576547 |
2016 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Using whole-exome sequencing (WES), we identified four de novo variants in PPP2R5D in a total of seven unrelated individuals with intellectual disability (ID) and other shared clinical characteristics, including autism spectrum disorder, macrocephaly, hypotonia, seizures, and dysmorphic features.
|
26576547 |
2016 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism.
|
26576547 |
2016 |
Autism Spectrum Disorders
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
Using whole-exome sequencing (WES), we identified four de novo variants in PPP2R5D in a total of seven unrelated individuals with intellectual disability (ID) and other shared clinical characteristics, including autism spectrum disorder, macrocephaly, hypotonia, seizures, and dysmorphic features.
|
26576547 |
2016 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
Large-scale discovery of novel genetic causes of developmental disorders.
|
25533962 |
2015 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
|
25972378 |
2015 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
|
26168268 |
2015 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
Genome sequencing identifies major causes of severe intellectual disability.
|
24896178 |
2014 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
Diagnostic exome sequencing in persons with severe intellectual disability.
|
23033978 |
2012 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
Molecular determinants for PP2A substrate specificity: charged residues mediate dephosphorylation of tyrosine hydroxylase by the PP2A/B' regulatory subunit.
|
20017541 |
2010 |
Dysmorphic features
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
The B56 family of protein phosphatase 2A (PP2A) regulatory subunits encodes differentiation-induced phosphoproteins that target PP2A to both nucleus and cytoplasm.
|
8703017 |
1996 |
Macrocephaly
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Autism Spectrum Disorders
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
|
|
|