PedAM
Pediatric Disease Annotations & Medicines
| hashimoto thyroiditis | ||||
| Disease ID | 480 |
|---|---|
| Disease | hashimoto thyroiditis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:2) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:20) HP:0002890 | Thyroid carcinoma | 4 HP:0030731 | Carcinoma | 4 HP:0000821 | Underactive thyroid | 4 HP:0002895 | Papillary thyroid carcinoma | 3 HP:0000819 | Diabetes mellitus | 2 HP:0000836 | Overactive thyroid | 2 HP:0002960 | Autoimmune condition | 2 HP:0001298 | Encephalopathy | 2 HP:0012115 | Liver inflammation | 1 HP:0002665 | Lymphoma | 1 HP:0200058 | Angiosarcoma | 1 HP:0002835 | Aspiration | 1 HP:0200123 | Chronic liver inflammation | 1 HP:0002383 | Encephalitis | 1 HP:0002415 | Degeneration of white matter of brain | 1 HP:0001251 | Ataxia | 1 HP:0001009 | Telangiectases | 1 HP:0001903 | Anemia | 1 HP:0000853 | Goitre | 1 HP:0001698 | Pericardial effusions | 1 |
| Disease ID | 480 |
|---|---|
| Disease | hashimoto thyroiditis |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:4) C0020676 | hypothyroidism | 4 C0238463 | papillary thyroid carcinoma | 3 C0085584 | encephalopathy | 2 C0040137 | thyroid nodules | 2 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:17) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1042031 | 25587205 | 4547 | MTTP | umls:C0677607 | BeFree | We analyzed the associations of seven polymorphisms of genes involved in lipid metabolism (APOA5 rs3135506, APOB rs1042031, FABP2 rs1799883, LDLR rs5925, LIPC rs1800588, LPL rs328, and MTTP rs1800591) with blood pressure and lipid values in Mexican hypertensive (HT) patients. | 0.000271442 | 2014 | APOB | 2 | 21002881 | C | T,A |
| rs113488022 | 19014278 | 673 | BRAF | umls:C0677607 | BeFree | Clinical and pathological features and the BRAF(V600E) mutation in patients with papillary thyroid carcinoma with and without concurrent Hashimoto thyroiditis. | 0.009001189 | 2009 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24721322 | 673 | BRAF | umls:C0677607 | BeFree | We analyzed the correlation between the presence/absence of the BRAF(V600E) mutation in the fine-needle aspiration (FNA) and the clinical-pathological features: age, gender, extension of surgery, node dissection, rate of cervical lymph node involvement, tumor size, TNM stage, variant of histotype, mono/plurifocality, association with lymphocitary chronic thyroiditis, radioactive iodine ablation doses, and outcome. | 0.009001189 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18426810 | 673 | BRAF | umls:C0677607 | BeFree | Screening for activating BRAF mutations in a series of 83 PTCs identified the most common V600E mutation in 39 cases (histologically, 38 classic PTCs and 1 sclerosing variant PTC) and a complex in-frame mutation involving amino acids V600-S605 in a stage III multicentric follicular variant PTC, occurring in a 50-year-old female patient, who was affected by hypothyroidism in autoimmune thyroiditis and had a family history of PTC and autoimmune thyroiditis. | 0.009001189 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 18426810 | 673 | BRAF | umls:C0920350 | BeFree | Screening for activating BRAF mutations in a series of 83 PTCs identified the most common V600E mutation in 39 cases (histologically, 38 classic PTCs and 1 sclerosing variant PTC) and a complex in-frame mutation involving amino acids V600-S605 in a stage III multicentric follicular variant PTC, occurring in a 50-year-old female patient, who was affected by hypothyroidism in autoimmune thyroiditis and had a family history of PTC and autoimmune thyroiditis. | 0.000542884 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs1799883 | 25587205 | 4547 | MTTP | umls:C0677607 | BeFree | We analyzed the associations of seven polymorphisms of genes involved in lipid metabolism (APOA5 rs3135506, APOB rs1042031, FABP2 rs1799883, LDLR rs5925, LIPC rs1800588, LPL rs328, and MTTP rs1800591) with blood pressure and lipid values in Mexican hypertensive (HT) patients. | 0.000271442 | 2014 | FABP2 | 4 | 119320747 | T | G,C,A |
| rs1800588 | 25587205 | 4547 | MTTP | umls:C0677607 | BeFree | We analyzed the associations of seven polymorphisms of genes involved in lipid metabolism (APOA5 rs3135506, APOB rs1042031, FABP2 rs1799883, LDLR rs5925, LIPC rs1800588, LPL rs328, and MTTP rs1800591) with blood pressure and lipid values in Mexican hypertensive (HT) patients. | 0.000271442 | 2014 | LIPC;LOC102724766 | 15 | 58431476 | C | T |
| rs1800591 | 25587205 | 4547 | MTTP | umls:C0677607 | BeFree | We analyzed the associations of seven polymorphisms of genes involved in lipid metabolism (APOA5 rs3135506, APOB rs1042031, FABP2 rs1799883, LDLR rs5925, LIPC rs1800588, LPL rs328, and MTTP rs1800591) with blood pressure and lipid values in Mexican hypertensive (HT) patients. | 0.000271442 | 2014 | MTTP | 4 | 99574331 | G | T |
| rs231775 | 21503616 | 1493 | CTLA4 | umls:C0677607 | BeFree | CTLA4 exon1 A49G polymorphism in Slovak patients with rheumatoid arthritis and Hashimoto thyroiditis-results and the review of the literature. | 0.149181152 | 2011 | CTLA4 | 2 | 203867991 | A | G,T |
| rs2476601 | 20438787 | 26191 | PTPN22 | umls:C0920350 | BeFree | To evaluate the prevalence of PTPN22 C1858T polymorphism in young type 1 diabetes patients with or without autoimmune thyroiditis. | 0.00764398 | 2010 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
| rs2476601 | 20438787 | 26191 | PTPN22 | umls:C0677607 | BeFree | To evaluate the prevalence of PTPN22 C1858T polymorphism in young type 1 diabetes patients with or without autoimmune thyroiditis. | 0.005276948 | 2010 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
| rs3087243 | 24697361 | 1493 | CTLA4 | umls:C0677607 | BeFree | Taken together, our study suggested that the CT60 polymorphism (rs3087243) in CTLA-4 gene might confer susceptibility to the AITDs (GD/HT). | 0.149181152 | 2015 | CTLA4 | 2 | 203874196 | G | A |
| rs3087243 | 24697361 | 348120 | LINC01193 | umls:C0677607 | BeFree | Taken together, our study suggested that the CT60 polymorphism (rs3087243) in CTLA-4 gene might confer susceptibility to the AITDs (GD/HT). | 0.000814326 | 2015 | CTLA4 | 2 | 203874196 | G | A |
| rs3135506 | 25587205 | 4547 | MTTP | umls:C0677607 | BeFree | We analyzed the associations of seven polymorphisms of genes involved in lipid metabolism (APOA5 rs3135506, APOB rs1042031, FABP2 rs1799883, LDLR rs5925, LIPC rs1800588, LPL rs328, and MTTP rs1800591) with blood pressure and lipid values in Mexican hypertensive (HT) patients. | 0.000271442 | 2014 | APOA5 | 11 | 116791691 | G | A,C |
| rs328 | 25587205 | 4547 | MTTP | umls:C0677607 | BeFree | We analyzed the associations of seven polymorphisms of genes involved in lipid metabolism (APOA5 rs3135506, APOB rs1042031, FABP2 rs1799883, LDLR rs5925, LIPC rs1800588, LPL rs328, and MTTP rs1800591) with blood pressure and lipid values in Mexican hypertensive (HT) patients. | 0.000271442 | 2014 | LPL | 8 | 19962213 | C | G |
| rs3792876 | 26329403 | 6583 | SLC22A4 | umls:C0677607 | BeFree | The aim of this study is to investigate whether SNP rs3792876 in the SLC22A4 gene is associated with GD, HT and AITD in a Chinese Han population. | 0.000271442 | 2015 | SLC22A4 | 5 | 132301616 | C | T |
| rs5925 | 25587205 | 4547 | MTTP | umls:C0677607 | BeFree | We analyzed the associations of seven polymorphisms of genes involved in lipid metabolism (APOA5 rs3135506, APOB rs1042031, FABP2 rs1799883, LDLR rs5925, LIPC rs1800588, LPL rs328, and MTTP rs1800591) with blood pressure and lipid values in Mexican hypertensive (HT) patients. | 0.000271442 | 2014 | LDLR | 19 | 11120205 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |