Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation disease BEFREE For the first time, rs1799999 in PPP1R3A was associated with risk of T2D in Mayan Mexican individuals (OR = 1.625, P = 0.014). 29948331 2018
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation disease BEFREE Polymorphisms were selected on the basis of information available in the literature for INS (rs689), INSR (rs1799816) and PP1G.G (rs1799999) in context to T2D. 26251103 2016
Diabetes Mellitus, Non-Insulin-Dependent
1.000 Biomarker disease BEFREE A 5-bp insertion-deletion polymorphism in the (AU)AT-rich element (ARE) within the 3'-untranslated region of the gene encoding the muscle-specific glycogen-targeting subunit of protein phosphatase 1 (PPP1R3) has been associated with insulin resistance and type 2 diabetes. 15181086 2004
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation disease BEFREE The ARE2 allele of PPP1R3A is associated with a male preponderance to early diagnosed type 2 diabetes. 12831406 2003
Diabetes Mellitus, Non-Insulin-Dependent
1.000 Biomarker disease MGD Disruption of the striated muscle glycogen targeting subunit PPP1R3A of protein phosphatase 1 leads to increased weight gain, fat deposition, and development of insulin resistance. 12606498 2003
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation disease BEFREE The p85alpha subunit of phosphatidyl inositol 3 kinase (PIK3R1) and the regulatory subunit 3 of protein phosphatase 1 (PPP1R3) were selected as candidate genes because both encode key proteins involved in insulin signalling and because polymorphisms in these genes have been previously implicated in insulin resistance or type II diabetes. 12185156 2002
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation disease BEFREE The association between PPP1R3 gene polymorphisms and type 2 diabetes mellitus. 11793847 2001
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation disease BEFREE The aim of this study was to investigate whether two common variants in the PPP1R3 gene, Asp905Tyr and PP1ARE, are associated with reduced insulin sensitivity or can predict the development of impaired glucose tolerance (IGT) or type 2 diabetes during a 20-year follow-up period in 696 50-year-old Caucasian men. 10868947 2000
Diabetes Mellitus, Non-Insulin-Dependent
1.000 AlteredExpression disease BEFREE We suggest that the increased protein binding to ARE2 contributes to a faster degradation of PPP1R3 mRNA carrying this allele, and the resulting lower concentration of the protein contributes to insulin resistance, thus increasing the risk for development of type 2 diabetes. 10479482 1999
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation disease BEFREE These results indicate that the frequency of polymorphism of the PPP1R3 gene (ARE-2 and Asp905) is different between two ethnic groups and is increased in Japanese people with type 2 diabetes, suggesting that these variants may be a possible marker for searching for diabetogenic genes. 10389856 1999
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation disease BEFREE These data suggest that the Asp905Tyr polymorphism of the PPP1R3 gene is not associated with NIDDM or high BMI, both of which are known to be insulin-resistant states, in the Japanese population. 9653600 1998
Diabetes Mellitus, Non-Insulin-Dependent
1.000 AlteredExpression disease BEFREE Because of its apparent effect on expression of PPP1R3, it may, in part, contribute to the higher prevalence of type 2 diabetes in this Native American population. 9726244 1998
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation disease BEFREE The carrier prevalence of the PP1G-subunit variant was 18% in 150 healthy subjects and 13% in 313 NIDDM subjects (chi 2 = 1.94, p = 0.16). 7581368 1995
Diabetes Mellitus, Non-Insulin-Dependent
1.000 Biomarker disease BEFREE Because the glycogen-associated regulatory subunit of protein phosphatase 1 (PP1 G-subunit) plays a key role in the insulin stimulation of glycogen synthesis and the activity of PP1 is decreased in insulin-resistant subjects, we have now cloned the human G-subunit cDNA to search for abnormalities in the corresponding gene (designated PPP1R3 in the human genome nomenclature) in patients with NIDDM. 7926294 1994
Diabetes Mellitus, Non-Insulin-Dependent
1.000 GeneticVariation disease UNIPROT Because the glycogen-associated regulatory subunit of protein phosphatase 1 (PP1 G-subunit) plays a key role in the insulin stimulation of glycogen synthesis and the activity of PP1 is decreased in insulin-resistant subjects, we have now cloned the human G-subunit cDNA to search for abnormalities in the corresponding gene (designated PPP1R3 in the human genome nomenclature) in patients with NIDDM. 7926294 1994
Diabetes Mellitus, Non-Insulin-Dependent
1.000 Biomarker disease HPO
Diabetes Mellitus, Non-Insulin-Dependent
1.000 Biomarker disease CTD_human
Diabetes Mellitus, Non-Insulin-Dependent
1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.300 GeneticVariation disease UNIPROT
CUI: C4016701
Disease: INSULIN RESISTANCE, SEVERE, DIGENIC
INSULIN RESISTANCE, SEVERE, DIGENIC
0.300 Biomarker phenotype GENOMICS_ENGLAND
Low density lipoprotein cholesterol measurement
0.100 GeneticVariation phenotype GWASCAT Analysis of pleiotropic genetic effects on cognitive impairment, systemic inflammation, and plasma lipids in the Health and Retirement Study. 31201950 2019
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.100 GeneticVariation phenotype GWASCAT Analysis of pleiotropic genetic effects on cognitive impairment, systemic inflammation, and plasma lipids in the Health and Retirement Study. 31201950 2019
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance
0.100 Biomarker phenotype HPO
INSULIN RESISTANCE, SUSCEPTIBILITY TO
0.100 SusceptibilityMutation disease CLINVAR
CUI: C4703555
Disease: Decreased waist to hip ratio
Decreased waist to hip ratio
0.100 Biomarker phenotype HPO