PedAM
Pediatric Disease Annotations & Medicines
| morbid obesity | ||||
| Disease ID | 1011 |
|---|---|
| Disease | morbid obesity |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:18) C0011847 | diabetes | 15 C0011860 | type 2 diabetes mellitus | 6 C0948265 | metabolic syndrome | 5 C0023895 | liver disease | 3 C2711227 | steatohepatitis | 2 C0018801 | heart failure | 2 C0024236 | lymphedema | 2 C0020503 | secondary hyperparathyroidism | 2 C0040038 | thromboembolism | 2 C0239946 | hepatic fibrosis | 2 C0017168 | gastroesophageal reflux disease | 1 C0037315 | sleep apnea | 1 C2711227 | liver steatosis | 1 C0086132 | symptoms of depression | 1 C0231303 | distress | 1 C0033845 | idiopathic intracranial hypertension | 1 C0035229 | respiratory insufficiency | 1 C1145670 | respiratory failure | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:25) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1042714 | 10557032 | 154 | ADRB2 | umls:C0028756 | BeFree | Lack of association between a human beta-2 adrenoceptor gene polymorphism (gln27glu) and morbid obesity. | 0.002909916 | 1999 | ADRB2 | 5 | 148826910 | G | C,T |
| rs10487818 | 19300429 | 10135 | NAMPT | umls:C0028756 | BeFree | One rare SNP, rs10487818, located in intron 4 of NAMPT was associated with severe obesity, with a minor allele frequency of 1.6% in controls, 0.4% in the class III obese adults and, remarkably, 0% in the severely obese children. | 0.000542884 | 2009 | NAMPT | 7 | 106269615 | A | T |
| rs1064891 | 18180783 | 5209 | PFKFB3 | umls:C0028756 | BeFree | Single nucleotide polymorphism rs1064891, located in the 3' UTR of the 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 (PFKFB3) gene, was nominally associated with obesity in combined analysis of cohorts 1 and 2 (P=0.007) and, in men that were lean or had severe obesity, with BMI (P=or<0.005). | 0.000271442 | 2008 | PFKFB3 | 10 | 6234611 | T | C |
| rs13447331 | 24385306 | 4160 | MC4R | umls:C0028756 | BeFree | Overall, this study suggest that S127L may be the most frequent functional MC4R mutation leading to the severe obesity in general population and provides new insight into the functionality of population based variants of the MC4R. | 0.018968593 | 2013 | MC4R | 18 | 60371970 | G | A |
| rs1799883 | 11866034 | 2169 | FABP2 | umls:C0028756 | BeFree | To investigate whether the Ala54Thr polymorphism of the fatty acid binding protein 2 gene is associated with obesity and obesity with dyslipidemia in Japanese schoolchildren, we analyzed 370 children with morbid obesity and 463 control children of normal weight. | 0.005276948 | 2001 | FABP2 | 4 | 119320747 | T | G,C,A |
| rs1800571 | NA | 5468 | PPARG | umls:C0028756 | CLINVAR | NA | 0.126634157 | NA | PPARG | 3 | 12381349 | C | A |
| rs1801282 | 22410809 | 5468 | PPARG | umls:C0028756 | BeFree | In this study, we investigated the association of PPAR-γ gene Pro12Ala (rs1801282) and C1431T (rs3856806) polymorphisms with morbid obesity and related phenotypes, in north Indian population. | 0.126634157 | 2012 | PPARG | 3 | 12351626 | C | G |
| rs1805097 | 12687350 | 8660 | IRS2 | umls:C0028756 | BeFree | Complex haplotypes of IRS2 gene are associated with severe obesity and reveal heterogeneity in the effect of Gly1057Asp mutation. | 0.000542884 | 2003 | IRS2 | 13 | 109782884 | C | T |
| rs1805192 | 22410809 | 5468 | PPARG | umls:C0028756 | BeFree | In this study, we investigated the association of PPAR-γ gene Pro12Ala (rs1801282) and C1431T (rs3856806) polymorphisms with morbid obesity and related phenotypes, in north Indian population. | 0.126634157 | 2012 | PPARG | 3 | 12379739 | C | G |
| rs201408477 | 24890885 | 5443 | POMC | umls:C0028756 | BeFree | Furthermore, both mutations PCSK1-p.Asn180Ser and POMC-p.Phe144Leu, which had previously been reported to be associated with severe obesity, were also identified in this study, but did not co-segregate with obesity. | 0.006362715 | 2014 | POMC | 2 | 25161455 | A | G |
| rs201408477 | 24890885 | 5122 | PCSK1 | umls:C0028756 | BeFree | Furthermore, both mutations PCSK1-p.Asn180Ser and POMC-p.Phe144Leu, which had previously been reported to be associated with severe obesity, were also identified in this study, but did not co-segregate with obesity. | 0.001085767 | 2014 | POMC | 2 | 25161455 | A | G |
| rs2229616 | 18779298 | 4160 | MC4R | umls:C0028756 | BeFree | The purpose of the study was to investigate the association between the MC4R V103I polymorphism and the dietary intake of persons with severe obesity, which was derived by using the Willett food-frequency questionnaire. | 0.018968593 | 2008 | MC4R | 18 | 60372043 | C | T |
| rs2815752 | 23950990 | 79068 | FTO | umls:C0028756 | BeFree | We found strong associations with severe obesity for SNP rs9939609 within the FTO gene (P = 9.3 × 10(-8)) and SNP rs2815752 near the NEGR1 gene (P = 3.6 × 10(-4)), and directionally consistent nominal associations (P<0.05) for 12 other SNPs. | 0.012453989 | 2013 | LOC105378797 | 1 | 72346757 | G | A |
| rs2815752 | 23950990 | 257194 | NEGR1 | umls:C0028756 | BeFree | We found strong associations with severe obesity for SNP rs9939609 within the FTO gene (P = 9.3 × 10(-8)) and SNP rs2815752 near the NEGR1 gene (P = 3.6 × 10(-4)), and directionally consistent nominal associations (P<0.05) for 12 other SNPs. | 0.000542884 | 2013 | LOC105378797 | 1 | 72346757 | G | A |
| rs35859249 | 18325908 | 23216 | TBC1D1 | umls:C0028756 | BeFree | previously reported an association between the TBC1D1 gene variant R125W (rs35859249) and severe obesity in women from US pedigrees. | 0.000542884 | 2008 | TBC1D1 | 4 | 37902468 | C | A,T |
| rs3856806 | 22410809 | 5468 | PPARG | umls:C0028756 | BeFree | In this study, we investigated the association of PPAR-γ gene Pro12Ala (rs1801282) and C1431T (rs3856806) polymorphisms with morbid obesity and related phenotypes, in north Indian population. | 0.126634157 | 2012 | PPARG | 3 | 12434058 | C | T |
| rs4148325 | 25246029 | 54658 | UGT1A1 | umls:C0028756 | BeFree | We analyzed total bilirubin levels, which are linked to fatty liver in severe obesity, and observed the strongest evidence for association with rs4148325 in UGT1A (P < 5.0 × 10(-93)), replicating previous findings. | 0.000271442 | 2014 | UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3 | 2 | 233764663 | C | T |
| rs4994 | 9416435 | 155 | ADRB3 | umls:C0028756 | BeFree | Gender effect of the Trp64Arg mutation in the beta 3 adrenergic receptor gene on weight gain in morbid obesity. | 0.008458305 | 1997 | ADRB3 | 8 | 37966280 | A | G |
| rs4994 | 8968850 | 155 | ADRB3 | umls:C0028756 | BeFree | Additive effect of A-->G (-3826) variant of the uncoupling protein gene and the Trp64Arg mutation of the beta 3-adrenergic receptor gene on weight gain in morbid obesity. | 0.008458305 | 1996 | ADRB3 | 8 | 37966280 | A | G |
| rs4994 | 17299491 | 155 | ADRB3 | umls:C0028756 | BeFree | To evaluate the prevalence of beta(3)-adrenergic receptor (ADRB3) Trp64Arg polymorphism and its relationship with the metabolic syndrome in severe obesity. | 0.008458305 | 2007 | ADRB3 | 8 | 37966280 | A | G |
| rs738409 | 19844213 | 80339 | PNPLA3 | umls:C0028756 | BeFree | Morbid obesity exposes the association between PNPLA3 I148M (rs738409) and indices of hepatic injury in individuals of European descent. | 0.000542884 | 2010 | PNPLA3 | 22 | 43928847 | C | G |
| rs7566605 | 18615239 | 51141 | INSIG2 | umls:C0028756 | GAD | [INSIG2 gene rs7566605 polymorphism is associated with severe obesity in Japanese.] | 0.005276948 | 2008 | LOC105373988 | 2 | 118078449 | C | G |
| rs7566605 | 18615239 | 51141 | INSIG2 | umls:C0028756 | BeFree | INSIG2 gene rs7566605 polymorphism is associated with severe obesity in Japanese. | 0.005276948 | 2008 | LOC105373988 | 2 | 118078449 | C | G |
| rs9939609 | 23950990 | 257194 | NEGR1 | umls:C0028756 | BeFree | We found strong associations with severe obesity for SNP rs9939609 within the FTO gene (P = 9.3 × 10(-8)) and SNP rs2815752 near the NEGR1 gene (P = 3.6 × 10(-4)), and directionally consistent nominal associations (P<0.05) for 12 other SNPs. | 0.000542884 | 2013 | FTO | 16 | 53786615 | T | A |
| rs9939609 | 23950990 | 79068 | FTO | umls:C0028756 | BeFree | We found strong associations with severe obesity for SNP rs9939609 within the FTO gene (P = 9.3 × 10(-8)) and SNP rs2815752 near the NEGR1 gene (P = 3.6 × 10(-4)), and directionally consistent nominal associations (P<0.05) for 12 other SNPs. | 0.012453989 | 2013 | FTO | 16 | 53786615 | T | A |
GWASdb Annotation(Total Genotypes:0) | |
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GWASdb Snp Trait(Total Genotypes:0) | |
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Mapped by lexical matching(Total Items:0) |
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Mapped by homologous gene(Total Items:0) |
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Chemical(Total Drugs:0) | |
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FDA approved drug and dosage information(Total Drugs:0) | |
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FDA labeling changes(Total Drugs:0) | |
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