Global developmental delay
|
0.410 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We now report 16 individuals with mild to profound ID and DD and a de novo mutation in PPP2CA, encoding the catalytic Cα subunit.
|
30595372 |
2019 |
Global developmental delay
|
0.410 |
GeneticVariation
|
disease |
BEFREE |
We now report 16 individuals with mild to profound ID and DD and a de novo mutation in PPP2CA, encoding the catalytic Cα subunit.
|
30595372 |
2019 |
Global developmental delay
|
0.410 |
Biomarker
|
disease |
HPO |
|
|
|
Seizures
|
0.400 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
|
30595372 |
2019 |
Feeding difficulties
|
0.400 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
|
30595372 |
2019 |
Seizures
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
Feeding difficulties
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
Intellectual Disability
|
0.310 |
GeneticVariation
|
group |
BEFREE |
We now report 16 individuals with mild to profound ID and DD and a de novo mutation in PPP2CA, encoding the catalytic Cα subunit.
|
30595372 |
2019 |
Intellectual Disability
|
0.310 |
Biomarker
|
group |
GENOMICS_ENGLAND |
We now report 16 individuals with mild to profound ID and DD and a de novo mutation in PPP2CA, encoding the catalytic Cα subunit.
|
30595372 |
2019 |
Language Disorders
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
|
30595372 |
2019 |
Muscle hypotonia
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
|
30595372 |
2019 |
Abnormality of nervous system morphology
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
|
30595372 |
2019 |
Asthma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Defects of protein phosphatase 2A causes corticosteroid insensitivity in severe asthma.
|
22205926 |
2011 |
Myocardial Ischemia
|
0.300 |
Biomarker
|
disease |
CTD_human |
Cardioplegia prevents ischemia-induced transcriptional alterations of cytoprotective genes in rat hearts: a DNA microarray study.
|
16214533 |
2005 |
Heart Diseases
|
0.300 |
Biomarker
|
group |
CTD_human |
Overexpression of the catalytic subunit of protein phosphatase 2A impairs cardiac function.
|
15247211 |
2004 |
Hyperalgesia
|
0.200 |
Biomarker
|
phenotype |
RGD |
Melatonin relieves neuropathic allodynia through spinal MT2-enhanced PP2Ac and downstream HDAC4 shuttling-dependent epigenetic modification of hmgb1 transcription.
|
26732138 |
2016 |
Diabetes Mellitus, Non-Insulin-Dependent
|
0.200 |
Biomarker
|
disease |
RGD |
Free fatty acid-induced PP2A hyperactivity selectively impairs hepatic insulin action on glucose metabolism.
|
22087313 |
2011 |
Liver Neoplasms, Experimental
|
0.200 |
Biomarker
|
phenotype |
RGD |
Role of protein phosphatases in malignant transformation.
|
2562181 |
1989 |
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
Exophthalmos
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Hernia, Inguinal
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Orbital separation excessive
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Byzanthine arch palate
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Delayed ability to walk
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Plagiocephaly
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|