Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
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
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 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 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 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 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
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 Biomarker group BEFREE PPP1R3 (protein phosphatase 1, regulatory subunit 3) is a candidate tumor suppressor gene at chromosome 7q31, since nonsense and missense mutations of the PPP1R3 gene have been detected in a variety of human cancers. 10995882 2000
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 Biomarker group BEFREE Recently, we found nonsense and missense mutations of the PPP1R3 (protein phosphatase 1, regulatory subunit 3) gene in diverse human cancer cell lines and primary lung carcinomas, indicating that PPP1R3 functions as a tumor suppressor in human carcinogenesis. 10698503 2000
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.020 GeneticVariation group BEFREE Recently, we found nonsense and missense mutations of the PPP1R3 (protein phosphatase 1, regulatory subunit 3) gene in diverse human cancer cell lines and primary lung carcinomas, indicating that PPP1R3 functions as a tumor suppressor in human carcinogenesis. 10698503 2000
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.020 GeneticVariation phenotype BEFREE Differences in the activities and properties of multiple PPP1R3 proteins, which are produced in human cells due to variable somatic mutations and genetic polymorphisms in the PPP1R3 gene, can be involved in human carcinogenesis and susceptibility to diseases. 10698503 2000
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.020 GeneticVariation group BEFREE Recently, we found nonsense and missense mutations of the PPP1R3 (protein phosphatase 1, regulatory subunit 3) gene in diverse human cancer cell lines and primary lung carcinomas, indicating that PPP1R3 functions as a tumor suppressor in human carcinogenesis. 10698503 2000
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.010 GeneticVariation group BEFREE Recently, we found nonsense and missense mutations of the PPP1R3 (protein phosphatase 1, regulatory subunit 3) gene in diverse human cancer cell lines and primary lung carcinomas, indicating that PPP1R3 functions as a tumor suppressor in human carcinogenesis. 10698503 2000
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
0.010 Biomarker disease BEFREE These results indicate that PPP1R3 is not a major target of 7q deletions in myeloid leukemia, however, alterations of the PPP1R3 gene may contribute to the development of a subset of hematological malignancies. 10995882 2000
CUI: C0024299
Disease: Lymphoma
Lymphoma
0.010 GeneticVariation group BEFREE To evaluate the possible involvement of the PPP1R3 gene in the development of hematological malignancies, we examined 72 leukemia and lymphoma cell lines for alterations of the PPP1R3 gene by PCR-SSCP and direct sequence analyses. 10995882 2000
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance
0.010 GeneticVariation phenotype 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