PedAM
Pediatric Disease Annotations & Medicines
| glucose intolerance | ||||
| Disease ID | 716 |
|---|---|
| Disease | glucose intolerance |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:8) C0011847 | diabetes | 38 C0028754 | obesity | 23 C0796095 | c syndrome | 14 C0020456 | hyperglycemia | 8 C0020459 | hyperinsulinemia | 5 C0856169 | endothelial dysfunction | 3 C0020538 | hypertension | 2 C0011849 | diabetes mellitus | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:81) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1042714 | 11288039 | 154 | ADRB2 | umls:C0271650 | BeFree | We conclude that the beta(2)-AR gene (Gln27Glu) variant might not be an important factor for obesity or IGT in Japanese subjects. | 0.000542884 | 2001 | ADRB2 | 5 | 148826910 | G | C,T |
| rs10811661 | 21234743 | 3630 | INS | umls:C0271650 | BeFree | Our data, together with the meta-analysis of previously published studies, show that the rs10811661 polymorphism is associated with impaired insulin release and IGT, suggesting that this variant may contribute to type 2 diabetes by affecting beta cell function. | 0.167783701 | 2011 | NA | 9 | 22134095 | T | C |
| rs10830963 | 19324940 | 3458 | IFNG | umls:C0271650 | BeFree | The G-allele of MTNR1B rs10830963 increases risk of type 2 diabetes through a state of i-IFG and not through i-IGT. | 0.001628651 | 2009 | MTNR1B | 11 | 92975544 | C | G |
| rs10830963 | 19324940 | 127069 | OR2T10 | umls:C0271650 | BeFree | The rs10830963 G-allele increased the risk of i-IFG (odds ratio [OR] 1.64, P = 5.5 x 10(-11)) but not i-IGT. | 0.000271442 | 2009 | MTNR1B | 11 | 92975544 | C | G |
| rs10830963 | 19324940 | 4544 | MTNR1B | umls:C0271650 | BeFree | The G-allele of MTNR1B rs10830963 increases risk of type 2 diabetes through a state of i-IFG and not through i-IGT. | 0.002909916 | 2009 | MTNR1B | 11 | 92975544 | C | G |
| rs1111875 | 24062323 | 3087 | HHEX | umls:C0271650 | BeFree | In this study, we asked whether the co-occurrence of risk alleles in or near five genes modulating insulin secretion (TCF7L2 rs7903146, IGF2BP2 rs4402960, CDKAL1 rs7754840, HHEX rs1111875, and HNF1A rs1169288) is associated with a higher risk of IGT/T2D in obese children and adolescents. | 0.002638474 | 2014 | NA | 10 | 92703125 | C | T |
| rs1111875 | 24062323 | 6927 | HNF1A | umls:C0271650 | BeFree | In this study, we asked whether the co-occurrence of risk alleles in or near five genes modulating insulin secretion (TCF7L2 rs7903146, IGF2BP2 rs4402960, CDKAL1 rs7754840, HHEX rs1111875, and HNF1A rs1169288) is associated with a higher risk of IGT/T2D in obese children and adolescents. | 0.007262917 | 2014 | NA | 10 | 92703125 | C | T |
| rs1137100 | 15997246 | 3953 | LEPR | umls:C0271650 | BeFree | Two polymorphisms (Lys109Arg, Gln223Arg) in the extracellular domain of the leptin receptor predicted the conversion to type 2 diabetes in high-risk individuals with IGT. | 0.006091273 | 2005 | LEPR | 1 | 65570758 | A | G |
| rs1137101 | 15997246 | 3953 | LEPR | umls:C0271650 | BeFree | Two polymorphisms (Lys109Arg, Gln223Arg) in the extracellular domain of the leptin receptor predicted the conversion to type 2 diabetes in high-risk individuals with IGT. | 0.006091273 | 2005 | LEPR | 1 | 65592830 | A | G |
| rs1169288 | 24933231 | 6927 | HNF1A | umls:C0271650 | BeFree | The common variants p.I27L (rs1169288), p.A98V (rs1800574) and p.S487N (rs2464196) of the hepatocyte nuclear factor 1-α (HNF1A) gene have been inconsistently associated with impaired glucose tolerance and/or an increased risk of type 2 diabetes mellitus (T2DM). | 0.007262917 | 2014 | HNF1A | 12 | 120978847 | A | C |
| rs1169288 | 24062323 | 3087 | HHEX | umls:C0271650 | BeFree | In this study, we asked whether the co-occurrence of risk alleles in or near five genes modulating insulin secretion (TCF7L2 rs7903146, IGF2BP2 rs4402960, CDKAL1 rs7754840, HHEX rs1111875, and HNF1A rs1169288) is associated with a higher risk of IGT/T2D in obese children and adolescents. | 0.002638474 | 2014 | HNF1A | 12 | 120978847 | A | C |
| rs1169288 | 24062323 | 6927 | HNF1A | umls:C0271650 | BeFree | In this study, we asked whether the co-occurrence of risk alleles in or near five genes modulating insulin secretion (TCF7L2 rs7903146, IGF2BP2 rs4402960, CDKAL1 rs7754840, HHEX rs1111875, and HNF1A rs1169288) is associated with a higher risk of IGT/T2D in obese children and adolescents. | 0.007262917 | 2014 | HNF1A | 12 | 120978847 | A | C |
| rs1229984 | 20700531 | 125 | ADH1B | umls:C0271650 | BeFree | Significant interactions were observed between alcohol and ADH1b (rs1229984) with respect to LDL and between alcohol and ALDH2 (rs886205) with respect to IGT/diabetes. | 0.000271442 | 2010 | ADH1B | 4 | 99318162 | T | C |
| rs1229984 | 20700531 | 217 | ALDH2 | umls:C0271650 | BeFree | Significant interactions were observed between alcohol and ADH1b (rs1229984) with respect to LDL and between alcohol and ALDH2 (rs886205) with respect to IGT/diabetes. | 0.000542884 | 2010 | ADH1B | 4 | 99318162 | T | C |
| rs13266634 | 21131091 | 169026 | SLC30A8 | umls:C0271650 | BeFree | To investigate the association of solute carrier family 30 member 8 (SLC30A8) rs13266634 C/T polymorphism with type 2 diabetes (T2DM), impaired glucose tolerance (IGT), and type 1 diabetes (T1DM). | 0.000814326 | 2011 | SLC30A8;LOC105375716 | 8 | 117172544 | C | T |
| rs13283456 | 17566096 | 80142 | PTGES2 | umls:C0271650 | BeFree | The PTGES2 Arg298His polymorphism was reinvestigated in a population-based cross-sectional study (Cooperative Health Research in the Augsburg Region) consisting of 239 individuals with impaired glucose tolerance, 226 with type 2 diabetes, and 863 normoglycemic controls. | 0.000271442 | 2007 | PTGES2 | 9 | 128122474 | C | A,T |
| rs137852671 | 23903354 | 6833 | ABCC8 | umls:C0271650 | BeFree | We conclude that the gradual development of glucose intolerance in patients with the SUR1-E1506K mutation might, as in the mouse model, result from impaired insulin secretion due a failure of insulin content to increase with age. | 0.001900093 | 2013 | ABCC8 | 11 | 17394295 | C | T |
| rs137852671 | 23903354 | 3630 | INS | umls:C0271650 | BeFree | We conclude that the gradual development of glucose intolerance in patients with the SUR1-E1506K mutation might, as in the mouse model, result from impaired insulin secretion due a failure of insulin content to increase with age. | 0.167783701 | 2013 | ABCC8 | 11 | 17394295 | C | T |
| rs137852671 | 20042013 | 6833 | ABCC8 | umls:C0271650 | BeFree | Our data corroborate the hypothesis that the dominant E1506K ABCC8 mutation, responsible for CHI, predisposes to the development of glucose intolerance and diabetes later in life. | 0.001900093 | 2010 | ABCC8 | 11 | 17394295 | C | T |
| rs1693482 | 20700531 | 126 | ADH1C | umls:C0271650 | BeFree | The ADH1c (rs1693482) fast metabolizing CC genotype was associated with an increased risk of impaired glucose tolerance (IGT)/diabetes compared to the CT and TT genotypes. | 0.000271442 | 2010 | ADH1C | 4 | 99342808 | C | T |
| rs1799883 | 11593593 | 2169 | FABP2 | umls:C0271650 | BeFree | (1) The Ala54 and Thr54 allele frequencies in Chinese were 0.71 and 0.29 respectively; (2) The FABP2-Ala54Thr variation was neither associated with fasting and post-challenged plasma glucose levels nor with NIDDM; (3) This variation was neither associated with fasting lipid profile nor with obesity; (4) The IGT subjects with genotype Thr54(+) (Thr54 homozygotes and heterozygotes) had lower fasting, 2-hour and total C-peptide levels and smaller AUC representing lesser C-peptide secretion after glucose challenge than those with genotype Thr54(-) (Ala54 homozygotes) (P = 0.04, 0.03, 0.01 and 0.01 respectively). | 0.000542884 | 1999 | FABP2 | 4 | 119320747 | T | G,C,A |
| rs1799945 | 12148086 | 3077 | HFE | umls:C0271650 | BeFree | Aims of the study were: (i) to determine the prevalence of mutations C282Y and H63D in the HFE gene causing hereditary hemochromatosis in patients with type 2 diabetes mellitus and non-diabetics, (ii) to investigate the relationship among HFE genotypes, serum ferritin and glucose intolerance and (iii) to assess possible association of HFE mutations with the susceptibility to develop late diabetic complications in the Czech population. | 0.005362824 | 2002 | HFE | 6 | 26090951 | C | G |
| rs1799983 | 16919532 | 4846 | NOS3 | umls:C0271650 | BeFree | Endothelial nitric oxide synthase G894T (Glu298Asp) polymorphism was predictive of glycemic status in a 5-year prospective study of Chinese subjects with impaired glucose tolerance. | 0.003267234 | 2006 | NOS3 | 7 | 150999023 | T | G |
| rs1799999 | 10868947 | 5506 | PPP1R3A | umls:C0271650 | 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. | 0.000271442 | 2000 | PPP1R3A | 7 | 113878379 | C | A |
| rs1799999 | 10868947 | 3630 | INS | umls:C0271650 | 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. | 0.167783701 | 2000 | PPP1R3A | 7 | 113878379 | C | A |
| rs1800562 | 12148086 | 3077 | HFE | umls:C0271650 | BeFree | Aims of the study were: (i) to determine the prevalence of mutations C282Y and H63D in the HFE gene causing hereditary hemochromatosis in patients with type 2 diabetes mellitus and non-diabetics, (ii) to investigate the relationship among HFE genotypes, serum ferritin and glucose intolerance and (iii) to assess possible association of HFE mutations with the susceptibility to develop late diabetic complications in the Czech population. | 0.005362824 | 2002 | HFE | 6 | 26092913 | G | A |
| rs1800574 | 24933231 | 6927 | HNF1A | umls:C0271650 | BeFree | The common variants p.I27L (rs1169288), p.A98V (rs1800574) and p.S487N (rs2464196) of the hepatocyte nuclear factor 1-α (HNF1A) gene have been inconsistently associated with impaired glucose tolerance and/or an increased risk of type 2 diabetes mellitus (T2DM). | 0.007262917 | 2014 | HNF1A | 12 | 120979061 | C | T |
| rs1800629 | 20361391 | 7124 | TNF | umls:C0271650 | GAD | [The rs1800629 SNP in TNF interacted with the 1-year change in moderate-to-vigorous physical activity on changes in CRP among those who had high (>3 mg/L) baseline CRP levels. ] | 0.004267125 | 2010 | TNF | 6 | 31575254 | G | A |
| rs1801282 | 17213274 | 5468 | PPARG | umls:C0271650 | BeFree | The proline allele at PPARG P12A increases risk for diabetes in persons with impaired glucose tolerance, an effect modified by body mass index. | 0.012082858 | 2007 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 16804087 | 4135 | MAP6 | umls:C0271650 | BeFree | Single nucleotide polymorphisms of PPARD in combination with the Gly482Ser substitution of PGC-1A and the Pro12Ala substitution of PPARG2 predict the conversion from impaired glucose tolerance to type 2 diabetes: the STOP-NIDDM trial. | 0.001900093 | 2006 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 16804087 | 5468 | PPARG | umls:C0271650 | BeFree | Single nucleotide polymorphisms of PPARD in combination with the Gly482Ser substitution of PGC-1A and the Pro12Ala substitution of PPARG2 predict the conversion from impaired glucose tolerance to type 2 diabetes: the STOP-NIDDM trial. | 0.012082858 | 2006 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 16804087 | 5225 | PGC | umls:C0271650 | BeFree | Single nucleotide polymorphisms of PPARD in combination with the Gly482Ser substitution of PGC-1A and the Pro12Ala substitution of PPARG2 predict the conversion from impaired glucose tolerance to type 2 diabetes: the STOP-NIDDM trial. | 0.000814326 | 2006 | PPARG | 3 | 12351626 | C | G |
| rs1801282 | 17213274 | 54512 | EXOSC4 | umls:C0271650 | BeFree | The proline allele at PPARG P12A increases risk for diabetes in persons with impaired glucose tolerance, an effect modified by body mass index. | 0.000542884 | 2007 | PPARG | 3 | 12351626 | C | G |
| rs1805097 | 12687350 | 8660 | IRS2 | umls:C0271650 | BeFree | These data indicate that IRS2 is an influential gene in severe obesity and glucose intolerance in this population, whereas gene-based haplotypes of IRS2 have revealed heterogeneity in the behaviour of the Gly1057Asp mutation in relation to insulin resistance. | 0.000542884 | 2003 | IRS2 | 13 | 109782884 | C | T |
| rs1805192 | 16804087 | 5225 | PGC | umls:C0271650 | BeFree | Single nucleotide polymorphisms of PPARD in combination with the Gly482Ser substitution of PGC-1A and the Pro12Ala substitution of PPARG2 predict the conversion from impaired glucose tolerance to type 2 diabetes: the STOP-NIDDM trial. | 0.000814326 | 2006 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 16804087 | 5468 | PPARG | umls:C0271650 | BeFree | Single nucleotide polymorphisms of PPARD in combination with the Gly482Ser substitution of PGC-1A and the Pro12Ala substitution of PPARG2 predict the conversion from impaired glucose tolerance to type 2 diabetes: the STOP-NIDDM trial. | 0.012082858 | 2006 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 16804087 | 4135 | MAP6 | umls:C0271650 | BeFree | Single nucleotide polymorphisms of PPARD in combination with the Gly482Ser substitution of PGC-1A and the Pro12Ala substitution of PPARG2 predict the conversion from impaired glucose tolerance to type 2 diabetes: the STOP-NIDDM trial. | 0.001900093 | 2006 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 17213274 | 5468 | PPARG | umls:C0271650 | BeFree | The proline allele at PPARG P12A increases risk for diabetes in persons with impaired glucose tolerance, an effect modified by body mass index. | 0.012082858 | 2007 | PPARG | 3 | 12379739 | C | G |
| rs1805192 | 17213274 | 54512 | EXOSC4 | umls:C0271650 | BeFree | The proline allele at PPARG P12A increases risk for diabetes in persons with impaired glucose tolerance, an effect modified by body mass index. | 0.000542884 | 2007 | PPARG | 3 | 12379739 | C | G |
| rs201607774 | 18231709 | 9826 | ARHGEF11 | umls:C0271650 | BeFree | R1467H variant in the rho guanine nucleotide exchange factor 11 (ARHGEF11) is associated with impaired glucose tolerance and type 2 diabetes in German Caucasians. | 0.000271442 | 2008 | ARHGEF11;LRRC71;MIR765 | 1 | 156937334 | C | T |
| rs2295490 | 20393693 | 3630 | INS | umls:C0271650 | BeFree | In sample 1 (n=791), the association between TRIB3 Q84R and impaired glucose regulation (IGR; defined as impaired fasting glucose and/or impaired glucose tolerance and/or type 2 diabetes by OGTT) and insulin sensitivity (ISI), and its interplay with early-phase insulin secretion (i.e. | 0.167783701 | 2010 | TRIB3 | 20 | 388261 | A | G |
| rs2295490 | 20393693 | 57761 | TRIB3 | umls:C0271650 | BeFree | In sample 1 (n=791), the association between TRIB3 Q84R and impaired glucose regulation (IGR; defined as impaired fasting glucose and/or impaired glucose tolerance and/or type 2 diabetes by OGTT) and insulin sensitivity (ISI), and its interplay with early-phase insulin secretion (i.e. | 0.000542884 | 2010 | TRIB3 | 20 | 388261 | A | G |
| rs2464196 | 24933231 | 6927 | HNF1A | umls:C0271650 | BeFree | The common variants p.I27L (rs1169288), p.A98V (rs1800574) and p.S487N (rs2464196) of the hepatocyte nuclear factor 1-α (HNF1A) gene have been inconsistently associated with impaired glucose tolerance and/or an increased risk of type 2 diabetes mellitus (T2DM). | 0.007262917 | 2014 | HNF1A | 12 | 120997624 | G | A |
| rs28936379 | 10362543 | 3630 | INS | umls:C0271650 | BeFree | Oral glucose tolerance tests on subjects with the presenilin 2 Met239Val mutation unaffected by early onset familial Alzheimer's disease (mean age 35 years) and on their first-degree relatives without the mutation demonstrated no evidence of glucose intolerance or increased proinsulin secretion. | 0.167783701 | 1999 | PSEN2 | 1 | 226888977 | A | G |
| rs28936379 | 10362543 | 5664 | PSEN2 | umls:C0271650 | BeFree | Oral glucose tolerance tests on subjects with the presenilin 2 Met239Val mutation unaffected by early onset familial Alzheimer's disease (mean age 35 years) and on their first-degree relatives without the mutation demonstrated no evidence of glucose intolerance or increased proinsulin secretion. | 0.000271442 | 1999 | PSEN2 | 1 | 226888977 | A | G |
| rs361072 | 20107106 | 5291 | PIK3CB | umls:C0271650 | GAD | [Our study suggests that the minor G allele of PIK3CB rs361072 associates with decreased muscle p85alpha:p110beta ratio and lower hepatic glucose production at high plasma insulin levels. However, no impact on type 2 diabetes prevalence was found.] | 0.002638474 | 2010 | PIK3CB | 3 | 138759702 | G | A |
| rs3731201 | 20384434 | 9370 | ADIPOQ | umls:C0271650 | BeFree | The analyses showed that age (P < 0.0001), BMI (P < 0.0001), and six variants (IGF2BP2 rs4402960, P = 0.002; ADIPOQ+276 G>T, P = 0.004; UCP2Ala55Val, P = 0.01; CDKN2AI2B rs3731201, P = 0.02; rs495490, P = 0.02, and rsl 0811661, P = 0.03) were significantly associated with the risk of IFG/IGT/T2DM. | 0.010073144 | 2010 | CDKN2A | 9 | 21988897 | C | T |
| rs3731201 | 20384434 | 10644 | IGF2BP2 | umls:C0271650 | BeFree | The analyses showed that age (P < 0.0001), BMI (P < 0.0001), and six variants (IGF2BP2 rs4402960, P = 0.002; ADIPOQ+276 G>T, P = 0.004; UCP2Ala55Val, P = 0.01; CDKN2AI2B rs3731201, P = 0.02; rs495490, P = 0.02, and rsl 0811661, P = 0.03) were significantly associated with the risk of IFG/IGT/T2DM. | 0.000542884 | 2010 | CDKN2A | 9 | 21988897 | C | T |
| rs3816873 | 16721486 | 4547 | MTTP | umls:C0271650 | BeFree | These results suggest that the rare allele of the MTP I128T polymorphism may be protective against impaired glucose tolerance, type 2 diabetes and other parameters of the metabolic syndrome. | 0.000271442 | 2006 | MTTP | 4 | 99583507 | T | C |
| rs386527835 | 17566096 | 80142 | PTGES2 | umls:C0271650 | BeFree | The PTGES2 Arg298His polymorphism was reinvestigated in a population-based cross-sectional study (Cooperative Health Research in the Augsburg Region) consisting of 239 individuals with impaired glucose tolerance, 226 with type 2 diabetes, and 863 normoglycemic controls. | 0.000271442 | 2007 | NA | NA | NA | NA | NA |
| rs386597997 | 15930170 | 3767 | KCNJ11 | umls:C0271650 | BeFree | The E23K variant in the Kir6.2 subunit of the ATP-sensitive K+ channel does not augment impaired glucose tolerance in Caribbean subjects with a family history of type 2 diabetes. | 0.002171535 | 2005 | NA | NA | NA | NA | NA |
| rs386597997 | 17259403 | 3630 | INS | umls:C0271650 | BeFree | We conclude that the lysine variant in KCNJ11 E23K leads to diminished insulin secretion in individuals with IGT. | 0.167783701 | 2007 | NA | NA | NA | NA | NA |
| rs386597997 | 17259403 | 3767 | KCNJ11 | umls:C0271650 | BeFree | We conclude that the lysine variant in KCNJ11 E23K leads to diminished insulin secretion in individuals with IGT. | 0.002171535 | 2007 | NA | NA | NA | NA | NA |
| rs4402960 | 24062323 | 6927 | HNF1A | umls:C0271650 | BeFree | In this study, we asked whether the co-occurrence of risk alleles in or near five genes modulating insulin secretion (TCF7L2 rs7903146, IGF2BP2 rs4402960, CDKAL1 rs7754840, HHEX rs1111875, and HNF1A rs1169288) is associated with a higher risk of IGT/T2D in obese children and adolescents. | 0.007262917 | 2014 | IGF2BP2 | 3 | 185793899 | G | T |
| rs4402960 | 24062323 | 3087 | HHEX | umls:C0271650 | BeFree | In this study, we asked whether the co-occurrence of risk alleles in or near five genes modulating insulin secretion (TCF7L2 rs7903146, IGF2BP2 rs4402960, CDKAL1 rs7754840, HHEX rs1111875, and HNF1A rs1169288) is associated with a higher risk of IGT/T2D in obese children and adolescents. | 0.002638474 | 2014 | IGF2BP2 | 3 | 185793899 | G | T |
| rs4402960 | 20384434 | 9370 | ADIPOQ | umls:C0271650 | BeFree | The analyses showed that age (P < 0.0001), BMI (P < 0.0001), and six variants (IGF2BP2 rs4402960, P = 0.002; ADIPOQ+276 G>T, P = 0.004; UCP2Ala55Val, P = 0.01; CDKN2AI2B rs3731201, P = 0.02; rs495490, P = 0.02, and rsl 0811661, P = 0.03) were significantly associated with the risk of IFG/IGT/T2DM. | 0.010073144 | 2010 | IGF2BP2 | 3 | 185793899 | G | T |
| rs4402960 | 20384434 | 10644 | IGF2BP2 | umls:C0271650 | BeFree | The analyses showed that age (P < 0.0001), BMI (P < 0.0001), and six variants (IGF2BP2 rs4402960, P = 0.002; ADIPOQ+276 G>T, P = 0.004; UCP2Ala55Val, P = 0.01; CDKN2AI2B rs3731201, P = 0.02; rs495490, P = 0.02, and rsl 0811661, P = 0.03) were significantly associated with the risk of IFG/IGT/T2DM. | 0.000542884 | 2010 | IGF2BP2 | 3 | 185793899 | G | T |
| rs495490 | 20384434 | 9370 | ADIPOQ | umls:C0271650 | BeFree | The analyses showed that age (P < 0.0001), BMI (P < 0.0001), and six variants (IGF2BP2 rs4402960, P = 0.002; ADIPOQ+276 G>T, P = 0.004; UCP2Ala55Val, P = 0.01; CDKN2AI2B rs3731201, P = 0.02; rs495490, P = 0.02, and rsl 0811661, P = 0.03) were significantly associated with the risk of IFG/IGT/T2DM. | 0.010073144 | 2010 | CDKN2B;CDKN2B-AS1 | 9 | 22010413 | A | G |
| rs495490 | 20384434 | 10644 | IGF2BP2 | umls:C0271650 | BeFree | The analyses showed that age (P < 0.0001), BMI (P < 0.0001), and six variants (IGF2BP2 rs4402960, P = 0.002; ADIPOQ+276 G>T, P = 0.004; UCP2Ala55Val, P = 0.01; CDKN2AI2B rs3731201, P = 0.02; rs495490, P = 0.02, and rsl 0811661, P = 0.03) were significantly associated with the risk of IFG/IGT/T2DM. | 0.000542884 | 2010 | CDKN2B;CDKN2B-AS1 | 9 | 22010413 | A | G |
| rs4994 | 9313101 | 3630 | INS | umls:C0271650 | BeFree | Trp64Arg mutation of beta 3-adrenergic receptor and insulin sensitivity in subjects with glucose intolerance. | 0.167783701 | 1997 | ADRB3 | 8 | 37966280 | A | G |
| rs4994 | 9313101 | 155 | ADRB3 | umls:C0271650 | BeFree | Trp64Arg mutation of beta 3-adrenergic receptor and insulin sensitivity in subjects with glucose intolerance. | 0.000814326 | 1997 | ADRB3 | 8 | 37966280 | A | G |
| rs5219 | 15930170 | 3767 | KCNJ11 | umls:C0271650 | BeFree | The E23K variant in the Kir6.2 subunit of the ATP-sensitive K+ channel does not augment impaired glucose tolerance in Caribbean subjects with a family history of type 2 diabetes. | 0.002171535 | 2005 | KCNJ11 | 11 | 17388025 | T | C |
| rs5219 | 17259403 | 3630 | INS | umls:C0271650 | BeFree | We conclude that the lysine variant in KCNJ11 E23K leads to diminished insulin secretion in individuals with IGT. | 0.167783701 | 2007 | KCNJ11 | 11 | 17388025 | T | C |
| rs5219 | 17259403 | 3767 | KCNJ11 | umls:C0271650 | BeFree | We conclude that the lysine variant in KCNJ11 E23K leads to diminished insulin secretion in individuals with IGT. | 0.002171535 | 2007 | KCNJ11 | 11 | 17388025 | T | C |
| rs560887 | 20826583 | 57818 | G6PC2 | umls:C0271650 | BeFree | In this cross-sectional study, we genotyped 1505 healthy Caucasian subjects [normal glucose tolerance (NGT), 1098; impaired glucose tolerance (IGT)/impaired fasting glucose (IFG), 407] for SNP rs560887 within the G6PC2 locus. | 0.002638474 | 2010 | G6PC2 | 2 | 168906638 | T | C |
| rs63750526 | 21538175 | 5663 | PSEN1 | umls:C0271650 | BeFree | Susceptibility to diet-induced obesity and glucose intolerance in the APP (SWE)/PSEN1 (A246E) mouse model of Alzheimer's disease is associated with increased brain levels of protein tyrosine phosphatase 1B (PTP1B) and retinol-binding protein 4 (RBP4), and basal phosphorylation of S6 ribosomal protein. | 0.000271442 | 2011 | PSEN1 | 14 | 73192832 | C | A |
| rs63750526 | 21538175 | 5950 | RBP4 | umls:C0271650 | BeFree | Susceptibility to diet-induced obesity and glucose intolerance in the APP (SWE)/PSEN1 (A246E) mouse model of Alzheimer's disease is associated with increased brain levels of protein tyrosine phosphatase 1B (PTP1B) and retinol-binding protein 4 (RBP4), and basal phosphorylation of S6 ribosomal protein. | 0.004353001 | 2011 | PSEN1 | 14 | 73192832 | C | A |
| rs63750526 | 21538175 | 5770 | PTPN1 | umls:C0271650 | BeFree | Susceptibility to diet-induced obesity and glucose intolerance in the APP (SWE)/PSEN1 (A246E) mouse model of Alzheimer's disease is associated with increased brain levels of protein tyrosine phosphatase 1B (PTP1B) and retinol-binding protein 4 (RBP4), and basal phosphorylation of S6 ribosomal protein. | 0.000814326 | 2011 | PSEN1 | 14 | 73192832 | C | A |
| rs63750526 | 21538175 | 351 | APP | umls:C0271650 | BeFree | Susceptibility to diet-induced obesity and glucose intolerance in the APP (SWE)/PSEN1 (A246E) mouse model of Alzheimer's disease is associated with increased brain levels of protein tyrosine phosphatase 1B (PTP1B) and retinol-binding protein 4 (RBP4), and basal phosphorylation of S6 ribosomal protein. | 0.000542884 | 2011 | PSEN1 | 14 | 73192832 | C | A |
| rs696217 | 16759313 | 51738 | GHRL | umls:C0271650 | BeFree | Association of the Leu72Met polymorphism of the ghrelin gene with the risk of Type 2 diabetes in subjects with impaired glucose tolerance in the Finnish Diabetes Prevention Study. | 0.000814326 | 2006 | GHRL;GHRLOS | 3 | 10289773 | G | T |
| rs7754840 | 24062323 | 6927 | HNF1A | umls:C0271650 | BeFree | In this study, we asked whether the co-occurrence of risk alleles in or near five genes modulating insulin secretion (TCF7L2 rs7903146, IGF2BP2 rs4402960, CDKAL1 rs7754840, HHEX rs1111875, and HNF1A rs1169288) is associated with a higher risk of IGT/T2D in obese children and adolescents. | 0.007262917 | 2014 | CDKAL1 | 6 | 20661019 | G | C,T |
| rs7754840 | 24062323 | 3087 | HHEX | umls:C0271650 | BeFree | In this study, we asked whether the co-occurrence of risk alleles in or near five genes modulating insulin secretion (TCF7L2 rs7903146, IGF2BP2 rs4402960, CDKAL1 rs7754840, HHEX rs1111875, and HNF1A rs1169288) is associated with a higher risk of IGT/T2D in obese children and adolescents. | 0.002638474 | 2014 | CDKAL1 | 6 | 20661019 | G | C,T |
| rs7903146 | 17593304 | 6934 | TCF7L2 | umls:C0271650 | BeFree | In adults, the TCF7L2 rs7903146 T allele, commonly associated with type 2 diabetes (T2D), has been also associated with a lower body mass index (BMI) in T2D individuals and with a smaller waist circumference in subjects with impaired glucose tolerance. | 0.004810009 | 2007 | TCF7L2 | 10 | 112998590 | C | T |
| rs7903146 | 24062323 | 6927 | HNF1A | umls:C0271650 | BeFree | In this study, we asked whether the co-occurrence of risk alleles in or near five genes modulating insulin secretion (TCF7L2 rs7903146, IGF2BP2 rs4402960, CDKAL1 rs7754840, HHEX rs1111875, and HNF1A rs1169288) is associated with a higher risk of IGT/T2D in obese children and adolescents. | 0.007262917 | 2014 | TCF7L2 | 10 | 112998590 | C | T |
| rs7903146 | 18611970 | 6934 | TCF7L2 | umls:C0271650 | GAD | [Impact of TCF7L2 rs7903146 on insulin secretion and action in young and elderly Danish twins.] | 0.004810009 | 2008 | TCF7L2 | 10 | 112998590 | C | T |
| rs7903146 | 24062323 | 3087 | HHEX | umls:C0271650 | BeFree | In this study, we asked whether the co-occurrence of risk alleles in or near five genes modulating insulin secretion (TCF7L2 rs7903146, IGF2BP2 rs4402960, CDKAL1 rs7754840, HHEX rs1111875, and HNF1A rs1169288) is associated with a higher risk of IGT/T2D in obese children and adolescents. | 0.002638474 | 2014 | TCF7L2 | 10 | 112998590 | C | T |
| rs886205 | 20700531 | 125 | ADH1B | umls:C0271650 | BeFree | Significant interactions were observed between alcohol and ADH1b (rs1229984) with respect to LDL and between alcohol and ALDH2 (rs886205) with respect to IGT/diabetes. | 0.000271442 | 2010 | ALDH2 | 12 | 111766623 | A | G |
| rs886205 | 20700531 | 217 | ALDH2 | umls:C0271650 | BeFree | Significant interactions were observed between alcohol and ADH1b (rs1229984) with respect to LDL and between alcohol and ALDH2 (rs886205) with respect to IGT/diabetes. | 0.000542884 | 2010 | ALDH2 | 12 | 111766623 | A | G |
| rs945508 | 18231709 | 9826 | ARHGEF11 | umls:C0271650 | BeFree | R1467H variant in the rho guanine nucleotide exchange factor 11 (ARHGEF11) is associated with impaired glucose tolerance and type 2 diabetes in German Caucasians. | 0.000271442 | 2008 | ARHGEF11;LRRC71;MIR765 | 1 | 156937289 | T | C |
| rs9939609 | 17942823 | 79068 | FTO | umls:C0271650 | GAD | [We validate that variation in FTO is associated with type 2 diabetes when not adjusted for BMI and with an overall increase in body fat mass.] | 0.007729856 | 2008 | FTO | 16 | 53786615 | T | A |
| rs997509 | 18940878 | 5167 | ENPP1 | umls:C0271650 | BeFree | Effect of the rs997509 polymorphism on the association between ectonucleotide pyrophosphatase phosphodiesterase 1 and metabolic syndrome and impaired glucose tolerance in childhood obesity. | 0.003267234 | 2009 | ENPP1 | 6 | 131846837 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
Chemical(Total Drugs:16) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0271650 | acetylcysteine | D000111 | 616-91-1 | glucose intolerance | MESH:D018149 | therapeutic | 21145380 | ||
| C0271650 | alitretinoin | C103303 | 5300/3/8 | glucose intolerance | MESH:D018149 | marker/mechanism | 21115832 | ||
| C0271650 | arsenic trioxide | C006632 | 1327-53-3 | glucose intolerance | MESH:D018149 | marker/mechanism | 21145380 | ||
| C0271650 | benazepril | C044946 | 86541-75-5 | glucose intolerance | MESH:D018149 | therapeutic | 9030901 | ||
| C0271650 | bendroflumethiazide | D001539 | 73-48-3 | glucose intolerance | MESH:D018149 | marker/mechanism | 6115999 | ||
| C0271650 | capsaicin | D002211 | 404-86-4 | glucose intolerance | MESH:D018149 | therapeutic | 19798065 | ||
| C0271650 | cyclosporine | D016572 | 59865-13-3 | glucose intolerance | MESH:D018149 | marker/mechanism | 19537303 | ||
| C0271650 | hemin | D006427 | 16009-13-5 | glucose intolerance | MESH:D018149 | therapeutic | 20016031 | ||
| C0271650 | metformin | D008687 | 657-24-9 | glucose intolerance | MESH:D018149 | marker/mechanism | 23457588 | ||
| C0271650 | progesterone | D011374 | 57-83-0 | glucose intolerance | MESH:D018149 | marker/mechanism | 21768169 | ||
| C0271650 | propylthiouracil | D011441 | 51-52-5 | glucose intolerance | MESH:D018149 | marker/mechanism | 25882089 | ||
| C0271650 | rosiglitazone | C089730 | - | glucose intolerance | MESH:D018149 | therapeutic | 15089784 | ||
| C0271650 | sirolimus | D020123 | 53123-88-9 | glucose intolerance | MESH:D018149 | marker/mechanism | 20622751 | ||
| C0271650 | streptozocin | D013311 | 18883-66-4 | glucose intolerance | MESH:D018149 | marker/mechanism | 20446767 | ||
| C0271650 | topiramate | C052342 | 97240-79-4 | glucose intolerance | MESH:D018149 | therapeutic | 17391164 | ||
| C0271650 | valproic acid | D014635 | 99-66-1 | glucose intolerance | MESH:D018149 | marker/mechanism | 19682024 | ||
FDA approved drug and dosage information(Total Drugs:10) | ||||||||
|---|---|---|---|---|---|---|---|---|
| DiseaseID | Drug_name | active_ingredients | strength | Dosage Form/Route | Marketing Status | TE code | RLD | RS |
| MESH:D018149 | rapamune | sirolimus | 1MG/ML | SOLUTION;ORAL | Prescription | None | Yes | Yes |
| MESH:D018149 | rapamune | sirolimus | 1MG | TABLET;ORAL | Prescription | AB | Yes | No |
| MESH:D018149 | topamax | topiramate | 100MG | TABLET;ORAL | Prescription | AB | Yes | Yes |
| MESH:D018149 | topamax | topiramate | 15MG | CAPSULE;ORAL | Prescription | AB | Yes | No |
| MESH:D018149 | topamax | topiramate | 100MG | TABLET;ORAL | Prescription | AB | Yes | Yes |
| MESH:D018149 | topamax | topiramate | 15MG | CAPSULE;ORAL | Prescription | AB | Yes | No |
| MESH:D018149 | topamax | topiramate | 100MG | TABLET;ORAL | Prescription | AB | Yes | Yes |
| MESH:D018149 | topamax | topiramate | 15MG | CAPSULE;ORAL | Prescription | AB | Yes | No |
| MESH:D018149 | topamax | topiramate | 100MG | TABLET;ORAL | Prescription | AB | Yes | Yes |
| MESH:D018149 | topamax | topiramate | 15MG | CAPSULE;ORAL | Prescription | AB | Yes | No |
FDA labeling changes(Total Drugs:10) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DiseaseID | Pediatric_Labeling_Date | Trade_Name | Generic_Name_or_Proper_Name | Indications Studied | Label Changes Summary | Product Labeling | BPCA(B) | PREA(P) | BPCA(B) and PREA(P) | Pediatric Rule (R) | Sponsor | Pediatric Exclusivity Granted Date | NNPS |
| MESH:D018149 | 11/3/2005 | rapamune | sirolimus | Prophylaxis of organ rejection in patients undergoing renal transplants | Safety and efficacy established in children 13 years or older judged to be at low to moderate immunologic risk Safety was assessed in a controlled clinical trial in pediatric ( | Labeling | B | - | - | - | Wyeth | 11/17/2004 | FALSE' |
| MESH:D018149 | 11/3/2005 | rapamune | sirolimus | Prophylaxis of organ rejection in patients undergoing renal transplants | Safety and efficacy established in children 13 years or older judged to be at low to moderate immunologic risk Safety was assessed in a controlled clinical trial in pediatric ( | Labeling | B | - | - | - | Wyeth | 11/17/2004 | FALSE' |
| MESH:D018149 | 12/22/2009 | topamax | topiramate | Migraine Prophylaxis | Safety and effectiveness for migraine prevention in pediatric patients have not been established Dose-related increased shift in serum creatinine in adolescent patients occurred in a clinical study Information added to Warnings and Precautions and Pediatric Use | Labeling | - | P | - | - | Ortho-McNeil-Janssen | - | FALSE' |
| MESH:D018149 | 12/22/2009 | topamax | topiramate | Migraine Prophylaxis | Safety and effectiveness for migraine prevention in pediatric patients have not been established Dose-related increased shift in serum creatinine in adolescent patients occurred in a clinical study Information added to Warnings and Precautions and Pediatric Use | Labeling | - | P | - | - | Ortho-McNeil-Janssen | - | FALSE' |
| MESH:D018149 | 12/22/2009 | topamax | topiramate | Adjunctive Treatment for Partial Onset Epilepsy in Infants and Toddlers 1 to 24 months | Effectiveness was not demonstrated as adjunctive therapy in a randomized, double-blind trial in infants/toddlers 1 to 24 months of age with refractory partial onset seizures Trials in infants/toddlers 1 to 24 months suggested some adverse reactions/toxicities not previously observed in older pediatric patients and adults; i.e, growth/length retardation, certain clinical laboratory abnormalities, and other adverse reactions/toxicities that occurred with a greater frequency and/or greater severity than had been recognized previously from studies in older pediatric patients or adults for various indications. Information added to Warnings and Precautions and Pediatric Use | Labeling | B | - | - | - | Ortho-McNeil-Janssen | 07/24/2008 | FALSE' |
| MESH:D018149 | 12/22/2009 | topamax | topiramate | Adjunctive Treatment for Partial Onset Epilepsy in Infants and Toddlers 1 to 24 months | Effectiveness was not demonstrated as adjunctive therapy in a randomized, double-blind trial in infants/toddlers 1 to 24 months of age with refractory partial onset seizures Trials in infants/toddlers 1 to 24 months suggested some adverse reactions/toxicities not previously observed in older pediatric patients and adults; i.e, growth/length retardation, certain clinical laboratory abnormalities, and other adverse reactions/toxicities that occurred with a greater frequency and/or greater severity than had been recognized previously from studies in older pediatric patients or adults for various indications. Information added to Warnings and Precautions and Pediatric Use | Labeling | B | - | - | - | Ortho-McNeil-Janssen | 07/24/2008 | FALSE' |
| MESH:D018149 | 07/15/2011 | topamax | topiramate | Monotherapy for partial onset or primary generalized tonic-clonic seizures | Expanded age range down to 2 years; previously approved for monotherapy for partial onset or primary generalized tonic-clonic seizures in patients10 years and older Information on weight based dosing in 2 to < 10 yearsPostmarketing study | Labeling | - | P | - | - | Janssen | - | FALSE' |
| MESH:D018149 | 07/15/2011 | topamax | topiramate | Monotherapy for partial onset or primary generalized tonic-clonic seizures | Expanded age range down to 2 years; previously approved for monotherapy for partial onset or primary generalized tonic-clonic seizures in patients10 years and older Information on weight based dosing in 2 to < 10 yearsPostmarketing study | Labeling | - | P | - | - | Janssen | - | FALSE' |
| MESH:D018149 | 03/28/2014 | topamax | topiramate | Prophylaxis of migraine headache | Approved for use in pediatric patients 12 years and older Safety and effectiveness in pediatric patients less than12 years have not been established for the prophylaxis treatment of migraine headache In the adolescent migraine trials (12 to 17 years), the most commonly observed adverse reactions were: paresthesia, upper respiratory tract infection, anorexia, and abdominal pain The most common cognitive adverse reaction in pooled double-blind studies in adolescent patients 12 to 17 years was difficulty with concentration/attention Markedly abnormally low serum bicarbonate values indicative of metabolic acidosis were reported in topiramate-treated adolescent migraine patients In topiramate-treated patients 12 to 17 years compared to placebo-treated patients, abnormally increased results were more frequent for creatinine, BUN, uric acid, chloride, ammonia, total protein, and platelets. Abnormally decreased results were observed with topiramate vs placebo treatment for phosphorus and bicarbonate Notable changes (increases and decreases) from baseline in systolic blood pressure, diastolic blood pressure, and pulse were observed more commonly in adolescents treated with topiramate compared to adolescents treated with placebo Information on dosing, adverse reactions, laboratory abnormalities, and clinical trials Postmarketing study | Labeling | - | P | - | - | Janssen | - | FALSE' |
| MESH:D018149 | 03/28/2014 | topamax | topiramate | Prophylaxis of migraine headache | Approved for use in pediatric patients 12 years and older Safety and effectiveness in pediatric patients less than12 years have not been established for the prophylaxis treatment of migraine headache In the adolescent migraine trials (12 to 17 years), the most commonly observed adverse reactions were: paresthesia, upper respiratory tract infection, anorexia, and abdominal pain The most common cognitive adverse reaction in pooled double-blind studies in adolescent patients 12 to 17 years was difficulty with concentration/attention Markedly abnormally low serum bicarbonate values indicative of metabolic acidosis were reported in topiramate-treated adolescent migraine patients In topiramate-treated patients 12 to 17 years compared to placebo-treated patients, abnormally increased results were more frequent for creatinine, BUN, uric acid, chloride, ammonia, total protein, and platelets. Abnormally decreased results were observed with topiramate vs placebo treatment for phosphorus and bicarbonate Notable changes (increases and decreases) from baseline in systolic blood pressure, diastolic blood pressure, and pulse were observed more commonly in adolescents treated with topiramate compared to adolescents treated with placebo Information on dosing, adverse reactions, laboratory abnormalities, and clinical trials Postmarketing study | Labeling | - | P | - | - | Janssen | - | FALSE' |