PedAM
Pediatric Disease Annotations & Medicines
| thyroiditis | ||||
| Disease ID | 1024 |
|---|---|
| Disease | thyroiditis |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:9) C0020676 | hypothyroidism | 57 C0085584 | encephalopathy | 24 C0040156 | thyrotoxicosis | 22 C0020550 | hyperthyroidism | 14 C0040137 | thyroid nodule | 7 C0040137 | thyroid nodules | 6 C0241910 | autoimmune hepatitis | 2 C0263338 | chronic urticaria | 2 C0027145 | myxedema | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:26) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1053005 | 24081513 | 6774 | STAT3 | umls:C0040147 | BeFree | We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs744166, rs17593222, rs2291281, and rs2291282 of STAT3 gene in 667 patients with autoimmune thyroid disease (417 Graves' disease (GD) and 250 Hashimoto's thyroiditis (HT)) and 301 healthy controls. | 0.000271442 | 2013 | STAT3 | 17 | 42313892 | T | C |
| rs113488022 | 25266729 | 673 | BRAF | umls:C0040147 | BeFree | The presence of BRAF V600E was only associated with extrathyroidal extension and the absence of thyroiditis. | 0.001628651 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 23775008 | 673 | BRAF | umls:C0040147 | BeFree | BRAF(V600E) assessment by pyrosequencing in fine needle aspirates of thyroid nodules with concurrent Hashimoto's thyroiditis is a reliable assay. | 0.001628651 | 2013 | BRAF | 7 | 140753336 | A | T,G,C |
| rs12760457 | 20615141 | 3559 | IL2RA | umls:C0040147 | BeFree | We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3789604) of the PTPN22 and the two SNPs (rs706778 and rs3118470 in the IL2RA gene) in 456 Japanese patients with AITD (286 with GD, 170 with Hashimoto's thyroiditis) and 221 matched Japanese control subjects. | 0.000814326 | 2010 | PTPN22;AP4B1-AS1 | 1 | 113847126 | C | T |
| rs12760457 | 20615141 | 26191 | PTPN22 | umls:C0040147 | BeFree | We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3789604) of the PTPN22 and the two SNPs (rs706778 and rs3118470 in the IL2RA gene) in 456 Japanese patients with AITD (286 with GD, 170 with Hashimoto's thyroiditis) and 221 matched Japanese control subjects. | 0.001085767 | 2010 | PTPN22;AP4B1-AS1 | 1 | 113847126 | C | T |
| rs1310182 | 20615141 | 26191 | PTPN22 | umls:C0040147 | BeFree | We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3789604) of the PTPN22 and the two SNPs (rs706778 and rs3118470 in the IL2RA gene) in 456 Japanese patients with AITD (286 with GD, 170 with Hashimoto's thyroiditis) and 221 matched Japanese control subjects. | 0.001085767 | 2010 | PTPN22;AP4B1-AS1 | 1 | 113830881 | A | G |
| rs1310182 | 20615141 | 3559 | IL2RA | umls:C0040147 | BeFree | We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3789604) of the PTPN22 and the two SNPs (rs706778 and rs3118470 in the IL2RA gene) in 456 Japanese patients with AITD (286 with GD, 170 with Hashimoto's thyroiditis) and 221 matched Japanese control subjects. | 0.000814326 | 2010 | PTPN22;AP4B1-AS1 | 1 | 113830881 | A | G |
| rs141185224 | 15472167 | 5979 | RET | umls:C0040147 | BeFree | We report a new RET point mutation [R694Q (CGG-->CAG)], serendipitously found in a 23-yr-old woman with hypothyroidism due to atrophic Hashimoto's thyroiditis and primary ovarian failure, without altered calcitonin secretion. | 0.002442977 | 2004 | RET | 10 | 43114681 | G | A |
| rs17593222 | 24081513 | 6774 | STAT3 | umls:C0040147 | BeFree | We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs744166, rs17593222, rs2291281, and rs2291282 of STAT3 gene in 667 patients with autoimmune thyroid disease (417 Graves' disease (GD) and 250 Hashimoto's thyroiditis (HT)) and 301 healthy controls. | 0.000271442 | 2013 | STAT3 | 17 | 42360972 | C | G |
| rs2291281 | 24081513 | 6774 | STAT3 | umls:C0040147 | BeFree | We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs744166, rs17593222, rs2291281, and rs2291282 of STAT3 gene in 667 patients with autoimmune thyroid disease (417 Graves' disease (GD) and 250 Hashimoto's thyroiditis (HT)) and 301 healthy controls. | 0.000271442 | 2013 | STAT3 | 17 | 42346443 | G | A |
| rs2291282 | 24081513 | 6774 | STAT3 | umls:C0040147 | BeFree | We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs744166, rs17593222, rs2291281, and rs2291282 of STAT3 gene in 667 patients with autoimmune thyroid disease (417 Graves' disease (GD) and 250 Hashimoto's thyroiditis (HT)) and 301 healthy controls. | 0.000271442 | 2013 | STAT3 | 17 | 42346547 | T | C |
| rs2293152 | 24081513 | 6774 | STAT3 | umls:C0040147 | BeFree | We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs744166, rs17593222, rs2291281, and rs2291282 of STAT3 gene in 667 patients with autoimmune thyroid disease (417 Graves' disease (GD) and 250 Hashimoto's thyroiditis (HT)) and 301 healthy controls. | 0.000271442 | 2013 | STAT3 | 17 | 42329511 | G | T,C,A |
| rs231775 | 23661465 | 1493 | CTLA4 | umls:C0040147 | BeFree | Updated analysis of studies on the cytotoxic T-lymphocyte-associated antigen-4 gene A49G polymorphism and Hashimoto's thyroiditis risk. | 0.002985861 | 2013 | CTLA4 | 2 | 203867991 | A | G,T |
| rs2476599 | 20615141 | 3559 | IL2RA | umls:C0040147 | BeFree | We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3789604) of the PTPN22 and the two SNPs (rs706778 and rs3118470 in the IL2RA gene) in 456 Japanese patients with AITD (286 with GD, 170 with Hashimoto's thyroiditis) and 221 matched Japanese control subjects. | 0.000814326 | 2010 | PTPN22;AP4B1-AS1 | 1 | 113820837 | G | A |
| rs2476599 | 20615141 | 26191 | PTPN22 | umls:C0040147 | BeFree | We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3789604) of the PTPN22 and the two SNPs (rs706778 and rs3118470 in the IL2RA gene) in 456 Japanese patients with AITD (286 with GD, 170 with Hashimoto's thyroiditis) and 221 matched Japanese control subjects. | 0.001085767 | 2010 | PTPN22;AP4B1-AS1 | 1 | 113820837 | G | A |
| rs2476601 | 19343596 | 26191 | PTPN22 | umls:C0040147 | BeFree | Stratifying patients affected with AITDs according to their phenotype (Graves' disease and Hashimoto's thyroiditis) and RA patients according to the presence of rheumatoid factor (RF) and antibodies against cyclic citrullinated peptides (ACPA) did not show any significant association with PTPN22 R620W allele (p>0.05). | 0.001085767 | 2009 | PTPN22;AP4B1-AS1 | 1 | 113834946 | A | G |
| rs2797415 | 20615141 | 3559 | IL2RA | umls:C0040147 | BeFree | We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3789604) of the PTPN22 and the two SNPs (rs706778 and rs3118470 in the IL2RA gene) in 456 Japanese patients with AITD (286 with GD, 170 with Hashimoto's thyroiditis) and 221 matched Japanese control subjects. | 0.000814326 | 2010 | NA | NA | NA | NA | NA |
| rs2797415 | 20615141 | 26191 | PTPN22 | umls:C0040147 | BeFree | We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3789604) of the PTPN22 and the two SNPs (rs706778 and rs3118470 in the IL2RA gene) in 456 Japanese patients with AITD (286 with GD, 170 with Hashimoto's thyroiditis) and 221 matched Japanese control subjects. | 0.001085767 | 2010 | NA | NA | NA | NA | NA |
| rs3118470 | 20615141 | 26191 | PTPN22 | umls:C0040147 | BeFree | We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3789604) of the PTPN22 and the two SNPs (rs706778 and rs3118470 in the IL2RA gene) in 456 Japanese patients with AITD (286 with GD, 170 with Hashimoto's thyroiditis) and 221 matched Japanese control subjects. | 0.001085767 | 2010 | IL2RA | 10 | 6059750 | T | A,C |
| rs3118470 | 20615141 | 3559 | IL2RA | umls:C0040147 | BeFree | We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3789604) of the PTPN22 and the two SNPs (rs706778 and rs3118470 in the IL2RA gene) in 456 Japanese patients with AITD (286 with GD, 170 with Hashimoto's thyroiditis) and 221 matched Japanese control subjects. | 0.000814326 | 2010 | IL2RA | 10 | 6059750 | T | A,C |
| rs3789604 | 20615141 | 26191 | PTPN22 | umls:C0040147 | BeFree | We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3789604) of the PTPN22 and the two SNPs (rs706778 and rs3118470 in the IL2RA gene) in 456 Japanese patients with AITD (286 with GD, 170 with Hashimoto's thyroiditis) and 221 matched Japanese control subjects. | 0.001085767 | 2010 | RSBN1;AP4B1-AS1 | 1 | 113812320 | T | C,G |
| rs3789604 | 20615141 | 3559 | IL2RA | umls:C0040147 | BeFree | We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3789604) of the PTPN22 and the two SNPs (rs706778 and rs3118470 in the IL2RA gene) in 456 Japanese patients with AITD (286 with GD, 170 with Hashimoto's thyroiditis) and 221 matched Japanese control subjects. | 0.000814326 | 2010 | RSBN1;AP4B1-AS1 | 1 | 113812320 | T | C,G |
| rs41322052 | 23481632 | 4846 | NOS3 | umls:C0040147 | BeFree | The purpose of this study was to analyse the effect of the T-786C polymorphism and intron 4 27 bp variable number tandem repeat(VNTR) eNOS markers for their potential association with Systemic Lupus Erythematosus(SLE), Hashimotos thyroiditis(HT) and Rheumatoid arthritis(RA) as well as to explore their effect on eNOS mRNA expression and nitrate production(NOx). | 0.000542884 | 2013 | NOS3 | 7 | 150993018 | C | T |
| rs706778 | 20615141 | 26191 | PTPN22 | umls:C0040147 | BeFree | We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3789604) of the PTPN22 and the two SNPs (rs706778 and rs3118470 in the IL2RA gene) in 456 Japanese patients with AITD (286 with GD, 170 with Hashimoto's thyroiditis) and 221 matched Japanese control subjects. | 0.001085767 | 2010 | IL2RA | 10 | 6056986 | C | T |
| rs706778 | 20615141 | 3559 | IL2RA | umls:C0040147 | BeFree | We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3789604) of the PTPN22 and the two SNPs (rs706778 and rs3118470 in the IL2RA gene) in 456 Japanese patients with AITD (286 with GD, 170 with Hashimoto's thyroiditis) and 221 matched Japanese control subjects. | 0.000814326 | 2010 | IL2RA | 10 | 6056986 | C | T |
| rs744166 | 24081513 | 6774 | STAT3 | umls:C0040147 | BeFree | We genotyped six single-nucleotide polymorphisms (SNPs) rs1053005, rs2293152, rs744166, rs17593222, rs2291281, and rs2291282 of STAT3 gene in 667 patients with autoimmune thyroid disease (417 Graves' disease (GD) and 250 Hashimoto's thyroiditis (HT)) and 301 healthy controls. | 0.000271442 | 2013 | STAT3 | 17 | 42362183 | A | G |
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:4) | |||||||||
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| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0040147 | dapsone | D003622 | 80-08-0 | thyroiditis | MESH:D013966 | marker/mechanism | 19583683 | ||
| C0040147 | interferon alfacon-1 | C050739 | 118390-30-0 | thyroiditis | MESH:D013966 | marker/mechanism | 17249181 | ||
| C0040147 | peginterferon alfa-2b | C417083 | - | thyroiditis | MESH:D013966 | marker/mechanism | 17490932 | ||
| C0040147 | ribavirin | D012254 | 36791-04-5 | thyroiditis | MESH:D013966 | marker/mechanism | 17249181 | ||
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.) | |