Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225352
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 		0.700 GermlineCausalMutation disease ORPHANET B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. 26168268 2015
CUI: C4225352
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 		0.700 GeneticVariation disease UNIPROT Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
CUI: C4225352
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 		0.700 GeneticVariation disease UNIPROT B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. 26168268 2015
CUI: C4225352
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 		0.700 CausalMutation disease CLINVAR
CUI: C4225352
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 		0.700 GeneticVariation disease CLINVAR
CUI: C4225352
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 		0.700 Biomarker disease CTD_human
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group GENOMICS_ENGLAND Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
CUI: C3544205
Disease: Ovarian clear cell carcinoma
Ovarian clear cell carcinoma 		0.330 GeneticVariation disease BEFREE Mutation of PPP2R1A has been observed at high frequency in endometrial serous carcinomas but at low frequency in ovarian clear cell carcinoma. 27272709 2016
CUI: C3544205
Disease: Ovarian clear cell carcinoma
Ovarian clear cell carcinoma 		0.330 GeneticVariation disease BEFREE Exome sequencing of ovarian clear-cell carcinoma has identified somatic mutations in PPP2R1A, a subunit of protein phosphatase 2A. 21435433 2011
CUI: C3544205
Disease: Ovarian clear cell carcinoma
Ovarian clear cell carcinoma 		0.330 Biomarker disease BEFREE The other two mutated genes were previously unknown to be involved in OCCC: PPP2R1A encodes a regulatory subunit of serine/threonine phosphatase 2, and ARID1A encodes adenine-thymine (AT)-rich interactive domain-containing protein 1A, which participates in chromatin remodeling. 20826764 2010
CUI: C3544205
Disease: Ovarian clear cell carcinoma
Ovarian clear cell carcinoma 		0.330 CausalMutation disease CGI
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.300 Biomarker disease CTD_human A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients. 21364753 2011
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.300 Biomarker group CTD_human A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients. 21364753 2011
CUI: C0235874
Disease: Disease Exacerbation
Disease Exacerbation 		0.300 Biomarker phenotype CTD_human A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients. 21364753 2011
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.300 Biomarker disease CTD_human A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients. 21364753 2011
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.300 Biomarker disease CTD_human Mitochondrial dysregulation of osteoarthritic human articular chondrocytes analyzed by proteomics: a decrease in mitochondrial superoxide dismutase points to a redox imbalance. 18784066 2009
CUI: C0086743
Disease: Osteoarthrosis Deformans
Osteoarthrosis Deformans 		0.300 Biomarker disease CTD_human Mitochondrial dysregulation of osteoarthritic human articular chondrocytes analyzed by proteomics: a decrease in mitochondrial superoxide dismutase points to a redox imbalance. 18784066 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE Restoration of wild-type PPP2R1A in P179R-mutant endometrial cancer cells increases phosphatase activity and inhibits tumor growth <i>in vivo</i> Furthermore, a small-molecule activator of PP2A (SMAP) phenocopies restoration of wild-type PPP2R1A to suppress tumor growth. 31416848 2019
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		0.100 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.100 GeneticVariation group CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE In addition, overexpression of PPP2R1A-WT increased cell proliferation in vitro and tumor growth in vivo. 27272709 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE Multivariate analysis showed that larger tumor size, higher mitotic rate, and PPP2R1A mutation are independent prognostic factors for overall survival; however, PPP2R1A mutation was not an independent prognostic factor for disease-free survival. 27469332 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Accordingly, overexpression of the Aα mutants in EC cells harboring wild-type PPP2R1A increased anchorage-independent growth and tumor formation, and triggered hyperphosphorylation of oncogenic PP2A-B56/B' substrates in the GSK3β, Akt, and mTOR/p70S6K signaling pathways. 27485451 2016
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.100 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016