Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.500 GeneticVariation disease BEFREE We hypothesized that variations within the PTPN1 promoter might contribute to the development of T2D and related metabolic traits. 17634210 2007
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.500 GeneticVariation disease BEFREE In summary, a rare P387L variant of the PTP-1B gene is associated with a 3.7 (CI 1.26-10.93, P = 0.02) genotype relative risk of type 2 diabetes in the examined population of Danish Caucasian subjects and results in impaired in vitro serine phosphorylation of the PTP-1B peptide. 11756316 2002
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.500 GeneticVariation disease BEFREE From 14 SNPs investigated, only SNP rs914458, located 10 kb downstream of the PTPN1 gene significantly associated with T2D (p = 0.02 under a dominant model; OR = 1.43 [1.06-1.94]) in the combined sample set. 16677372 2006
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.500 GeneticVariation disease BEFREE Despite power estimated at >95% to replicate the previously reported associations, no statistically significant evidence of association was observed between PTPN1 SNPs or common haplotypes with type 2 diabetes or with diabetic phenotypes. 15919813 2005
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.500 GeneticVariation disease BEFREE Furthermore, the association of the polymorphisms and PTP1B and leptin receptor (LepR) gene-gene interactions with complications of type 2 diabetes were examined in type 2 diabetic patients. 15189365 2004
CUI: C0028754
Disease: Obesity
Obesity 		0.400 GeneticVariation disease BEFREE The purpose of this study was to investigate the association of 1484insG polymorphism of the PTPN1 with obesity, insulin resistance, type 2 diabetes and other cardiovascular-related traits in an Iranian population. 17560463 2007
CUI: C0028754
Disease: Obesity
Obesity 		0.400 GeneticVariation disease BEFREE PTPN1 gene variants have been inconsistently associated with T2D, and the aim of our study was to investigate the effect of PTPN1 genetic variations on the risk of T2D, obesity and on the variability of metabolic phenotypes in the French population. 16677372 2006
CUI: C0028754
Disease: Obesity
Obesity 		0.400 GeneticVariation disease BEFREE PTP-1B polymorphisms contribute to pathogenesis of hypertension in Chinese subjects and PTP-1B SNP may be involved in the development of several features including dyslipidemia and obesity in hypertensive subjects. 20101100 2010
CUI: C0028754
Disease: Obesity
Obesity 		0.400 GeneticVariation disease BEFREE Single nucleotide polymorphisms in protein tyrosine phosphatase 1beta (PTPN1) are associated with essential hypertension and obesity. 15229188 2004
CUI: C0028754
Disease: Obesity
Obesity 		0.400 GeneticVariation disease BEFREE There were no statistically significant associations of SNPs in the PTPN1 gene with dietary phenotypes or measures of obesity. 18846048 2008
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.350 GeneticVariation disease BEFREE Conditions of metabolic dysfunction increase PTP1B, when deletion of PTP1B protects against metabolic disorders by increasing insulin signaling. 25974252 2015
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.330 GeneticVariation group BEFREE To investigate whether PTP-1B SNP are associated with hypertension and hypertension-related metabolic traits in Chinese subjects. 20101100 2010
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.330 GeneticVariation group BEFREE We conclude that the PTP1B IVS6 + G82A polymorphism was associated with BMI, albuminuria, GHBA1 and hypertension in type 2 diabetic patients. 15189365 2004
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 GeneticVariation disease BEFREE Through joint analysis of the associations in the combined psoriasis and schizophrenia data set, we identified a potential susceptibility PTPN1 gene for psoriasis, which may affect the risk of psoriasis through modulation of the function of TYK2 kinase. 27976820 2017
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.320 GeneticVariation group BEFREE Recurrent somatic mutations of PTPN1 in primary mediastinal B cell lymphoma and Hodgkin lymphoma. 24531327 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 GeneticVariation disease BEFREE The association of PTPN1 genotypes and haplotypes frequencies with BC risk were determined by logistic regression analysis. 30805963 2019
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 GeneticVariation disease BEFREE These very preliminary findings suggest that genomic variation in PTP-1B is associated with a reduced risk of diabetes and are consistent with the idea that this protein is important in metabolism. 11836311 2002
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 GeneticVariation disease BEFREE Genetic variation in PTPN1, a diabetes susceptibility gene, was investigated for a role in diabetic atherosclerosis. 16505227 2006
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.100 GeneticVariation group BEFREE These very preliminary findings suggest that genomic variation in PTP-1B is associated with a reduced risk of diabetes and are consistent with the idea that this protein is important in metabolism. 11836311 2002
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.100 GeneticVariation group BEFREE Genetic variation in PTPN1, a diabetes susceptibility gene, was investigated for a role in diabetic atherosclerosis. 16505227 2006
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.100 GeneticVariation disease GWASCAT Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy. 30014611 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE The regions defined by the AIB1 and PTPN1 genes (at 20q12 and 20q13.1, respectively) were amplified in 25% and 29% of the sporadic tumors, also without simultaneous coamplification of other regions. 10815905 2000
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE We demonstrate that expression of either wild-type PTP1B or the substrate-trapping mutant form of the enzyme (PTP1B-D181A) in p210 bcr-abl-transformed Rat-1 fibroblasts diminished the ability of these cells to form colonies in soft agar, to grow in reduced serum, and to form tumors in nude mice. 9826659 1998
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.100 GeneticVariation phenotype GWASDB The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes. 22286170 2012
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019