rs786205228, PPP2R1A

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
CUI: C4225352
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
0.800 CausalMutation CLINVAR
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
CUI: C4225352
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
0.800 GeneticVariation UNIPROT
Uterine Carcinosarcoma
CUI: C0280630
Disease: Uterine Carcinosarcoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Uterine Carcinosarcoma
CUI: C0280630
Disease: Uterine Carcinosarcoma
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Malignant Uterine Corpus Neoplasm
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Malignant neoplasm of endometrium
CUI: C0007103
Disease: Malignant neoplasm of endometrium
0.010 GeneticVariation BEFREE Restoration of wild-type PPP2R1A in P179R</span>-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
Endometrial Carcinoma
CUI: C0476089
Disease: Endometrial Carcinoma
0.010 GeneticVariation BEFREE Restoration of wild-type PPP2R1A in P179R</span>-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
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.010 GeneticVariation 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