Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
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
CUI: C0557874
Disease: Global developmental delay
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
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
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
CUI: C0232466
Disease: Feeding difficulties
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
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker phenotype HPO
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.400 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
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
CUI: C3714756
Disease: Intellectual Disability
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
CUI: C0023015
Disease: Language Disorders
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
CUI: C0026827
Disease: Muscle hypotonia
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
CUI: C4022810
Disease: Abnormality of nervous system morphology
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
CUI: C0004096
Disease: Asthma
Asthma 		0.300 Biomarker disease CTD_human Defects of protein phosphatase 2A causes corticosteroid insensitivity in severe asthma. 22205926 2011
CUI: C0151744
Disease: Myocardial Ischemia
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
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		0.300 Biomarker group CTD_human Overexpression of the catalytic subunit of protein phosphatase 2A impairs cardiac function. 15247211 2004
CUI: C0020429
Disease: Hyperalgesia
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
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
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
CUI: C0023904
Disease: Liver Neoplasms, Experimental
Liver Neoplasms, Experimental 		0.200 Biomarker phenotype RGD Role of protein phosphatases in malignant transformation. 2562181 1989
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		0.100 Biomarker disease HPO
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.100 Biomarker phenotype HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
CUI: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		0.100 Biomarker phenotype HPO
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		0.100 Biomarker disease HPO