PedAM
Pediatric Disease Annotations & Medicines
| differentiated thyroid carcinoma | ||||
| Disease ID | 970 |
|---|---|
| Disease | differentiated thyroid carcinoma |
| Definition | An adenocarcinoma arising from the thyroid gland showing extensive evidence of follicular cell differentiation. According to the nuclear features of the malignant follicular cells, it is classified either as papillary, or follicular carcinoma. |
| Synonym | differentiated thyroid cancer differentiated thyroid gland carcinoma thyroid gland differentiated carcinoma thyroid gland well differentiated carcinoma well differentiated thyroid carcinoma well differentiated thyroid gland carcinoma well-differentiated thyroid cancer |
| Orphanet | |
| UMLS | C1337013 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:22) C0040147 | thyroiditis | 2 C0686619 | lymph node metastases | 2 C0001430 | adenoma | 2 C0677607 | hashimoto's thyroiditis | 2 C0007133 | papillary carcinoma | 2 C0007115 | thyroid ca | 1 C0153676 | lung metastases | 1 C0677607 | lymphocytic thyroiditis | 1 C0549473 | thyroid carcinoma | 1 C1336753 | thyroid lymphoma | 1 C0024299 | lymphoma | 1 C0677607 | chronic lymphocytic thyroiditis | 1 C0238463 | papillary thyroid carcinoma | 1 C0032000 | pituitary adenoma | 1 C0153677 | mediastinal metastasis | 1 C0001418 | adenocarcinoma | 1 C0018021 | goiter | 1 C0153676 | pulmonary metastases | 1 C1335302 | pancreatic ductal adenocarcinoma | 1 C0034069 | pulmonary fibrosis | 1 C0040137 | thyroid nodules | 1 C0040137 | thyroid nodule | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:28) NTRK1 | 4914 | ORPHANET HRAS | 3265 | ORPHANET RET | 5979 | ORPHANET NRAS | 4893 | ORPHANET DIRC3 | 729582 | ORPHANET BRAF | 673 | ORPHANET PAX8 | 7849 | ORPHANET PPARG | 5468 | ORPHANET KRAS | 3845 | ORPHANET TFG | 10342 | ORPHANET TRIM33 | 51592 | ORPHANET NKX2-1 | 7080 | ORPHANET NTRK3 | 4916 | ORPHANET ETV6 | 2120 | ORPHANET FOXE1 | 2304 | ORPHANET CCDC6 | 8030 | ORPHANET NCOA4 | 8031 | ORPHANET ALK | 238 | ORPHANET EIF1AX | 1964 | ORPHANET TRIM24 | 8805 | ORPHANET TPR | 7175 | ORPHANET LPAR4 | 2846 | ORPHANET TRIM27 | 5987 | ORPHANET PCM1 | 5108 | ORPHANET NDUFA13 | 51079 | ORPHANET GAS8-AS1 | 750 | ORPHANET GOLGA5 | 9950 | ORPHANET ERC1 | 23085 | ORPHANET |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:28) LPAR4 | Xq21.1 NRAS | 1p13.2 KRAS | 12p12.1 DIRC3 | 2q35 PAX8 | 2q14.1 PCM1 | 8p22 ETV6 | 12p13.2 NCOA4 | 10q11.22 RET | 10q11.21 NTRK3 | 15q25.3 PPARG | 3p25.2 GAS8-AS1 | 16q24.3 GOLGA5 | 14q32.12 ALK | 2p23.2-p23.1 EIF1AX | Xp22.12 ERC1 | 12p13.33 TRIM27 | 6p22.1 NTRK1 | 1q23.1 TFG | 3q12.2 TRIM24 | 7q33-q34 HRAS | 11p15.5 CCDC6 | 10q21.2 TPR | 1q31.1 FOXE1 | 9q22.33 NKX2-1 | 14q13.3 NDUFA13 | 19p13.11 BRAF | 7q34 TRIM33 | 1p13.2 |
| Disease ID | 970 |
|---|---|
| Disease | differentiated thyroid carcinoma |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:13) HP:0002664 | Neoplasia | 4 HP:0000872 | Hashimoto's thyroiditis | 3 HP:0000718 | Aggressive behaviour | 2 HP:0100646 | Thyroiditis | 2 HP:0000853 | Goitre | 1 HP:0002668 | Paragangliomas | 1 HP:0030731 | Carcinoma | 1 HP:0002206 | Pulmonary fibrosis | 1 HP:0002890 | Thyroid carcinoma | 1 HP:0002665 | Lymphoma | 1 HP:0002895 | Papillary thyroid carcinoma | 1 HP:0002893 | Pituitary adenoma | 1 HP:0100028 | Abnormal thryoid location | 1 |
| Disease ID | 970 |
|---|---|
| Disease | differentiated thyroid carcinoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:13) C1519670 | tumor angiogenesis C0920350 | hashimoto thyroiditis C0686619 | lymph node metastases C0494165 | hepatic metastasis C0342208 | multinodular goitre C0220650 | brain metastases C0153690 | bone metastasis C0153690 | bone metastases C0153676 | pulmonary metastasis C0153676 | pulmonary metastases C0153676 | lung metastases C0029896 | ent disease C0007279 | carotid body tumor |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:7) C0029896 | ent disease | 3 C0153690 | bone metastasis | 3 C0686619 | lymph node metastases | 2 C0153690 | bone metastases | 2 C0007279 | carotid body tumor | 1 C0153676 | pulmonary metastases | 1 C0153676 | lung metastases | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:49) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs10741657 | 22690899 | 120227 | CYP2R1 | umls:C1337013 | BeFree | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). | 0.000271442 | 2012 | CYP2R1 | 11 | 14893332 | A | G |
| rs10741657 | 22690899 | 5727 | PTCH1 | umls:C1337013 | BeFree | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). | 0.001357209 | 2012 | CYP2R1 | 11 | 14893332 | A | G |
| rs10741657 | 22690899 | 1594 | CYP27B1 | umls:C1337013 | BeFree | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). | 0.000542884 | 2012 | CYP2R1 | 11 | 14893332 | A | G |
| rs10877012 | 22690899 | 120227 | CYP2R1 | umls:C1337013 | BeFree | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). | 0.000271442 | 2012 | CYP27B1;METTL1 | 12 | 57768302 | G | T |
| rs10877012 | 22690899 | 1594 | CYP27B1 | umls:C1337013 | BeFree | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). | 0.000542884 | 2012 | CYP27B1;METTL1 | 12 | 57768302 | G | T |
| rs10877012 | 22690899 | 5727 | PTCH1 | umls:C1337013 | BeFree | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). | 0.001357209 | 2012 | CYP27B1;METTL1 | 12 | 57768302 | G | T |
| rs113488022 | 25121551 | 7015 | TERT | umls:C1337013 | BeFree | We found TERT promoter mutations in 0.0% (0/179) of benign thyroid nodules and 7.0% (9/129) of thyroid nodules of differentiated thyroid cancer, representing a 100% diagnostic specificity and 7.0% sensitivity, with the latter rising to 38.0% (49/129) when combined with BRAF V600E testing. | 0.000542884 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 24777145 | 673 | BRAF | umls:C1337013 | BeFree | Neither the presence of V600E BRAF mutations nor that of a well-differentiated thyroid carcinoma changed the outcome or disease-free survival. | 0.002714419 | 2014 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25121551 | 673 | BRAF | umls:C1337013 | BeFree | We found TERT promoter mutations in 0.0% (0/179) of benign thyroid nodules and 7.0% (9/129) of thyroid nodules of differentiated thyroid cancer, representing a 100% diagnostic specificity and 7.0% sensitivity, with the latter rising to 38.0% (49/129) when combined with BRAF V600E testing. | 0.002714419 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25814520 | 673 | BRAF | umls:C1337013 | BeFree | These data suggest that BRAF(V600E)-mutated DTCs are significantly more (18)F-FDG-avid than BRAF-WT tumors. | 0.002714419 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 17989125 | 673 | BRAF | umls:C1337013 | BeFree | BRAF V600E mutation was identified in nine of 36 (25%) ATCs; seven cases had identical mutations in both the ATC and DTC components. | 0.002714419 | 2008 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 22535974 | 673 | BRAF | umls:C1337013 | BeFree | The aims of this study were to evaluate the utility of US-guided FNAB in the diagnostic assessment of nodules with or without clinical/US features suggestive for malignancy and to investigate the additional contribution of BRAF V600E mutation analysis in the detection of differentiated thyroid cancer. | 0.002714419 | 2012 | BRAF | 7 | 140753336 | A | T,G,C |
| rs113488022 | 25814520 | 23583 | SMUG1 | umls:C1337013 | BeFree | These data suggest that BRAF(V600E)-mutated DTCs are significantly more (18)F-FDG-avid than BRAF-WT tumors. | 0.000271442 | 2015 | BRAF | 7 | 140753336 | A | T,G,C |
| rs11554290 | 24468978 | 4893 | NRAS | umls:C1337013 | BeFree | BRAF mutation was present in 65% of 94 DTC and p.Q61R NRAS in one. | 0.000271442 | 2014 | NRAS | 1 | 114713908 | T | G,C,A |
| rs1220597 | 25029422 | 221178 | SPATA13 | umls:C1337013 | BeFree | A possible role in DTC susceptibility in the Italian populations was also found for rs13184587 (ARSB) (P = 8.54 × 10(-6)) and rs1220597 (SPATA13) (P = 3.25 × 10(-6)). | 0.000271442 | 2015 | SPATA13 | 13 | 24243875 | C | T |
| rs12794714 | 22690899 | 120227 | CYP2R1 | umls:C1337013 | BeFree | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). | 0.000271442 | 2012 | CYP2R1 | 11 | 14892029 | G | A |
| rs12794714 | 22690899 | 5727 | PTCH1 | umls:C1337013 | BeFree | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). | 0.001357209 | 2012 | CYP2R1 | 11 | 14892029 | G | A |
| rs12794714 | 22690899 | 1594 | CYP27B1 | umls:C1337013 | BeFree | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). | 0.000542884 | 2012 | CYP2R1 | 11 | 14892029 | G | A |
| rs13184587 | 25029422 | 221178 | SPATA13 | umls:C1337013 | BeFree | A possible role in DTC susceptibility in the Italian populations was also found for rs13184587 (ARSB) (P = 8.54 × 10(-6)) and rs1220597 (SPATA13) (P = 3.25 × 10(-6)). | 0.000271442 | 2015 | ARSB | 5 | 78910960 | G | A |
| rs1799782 | 24175846 | 7515 | XRCC1 | umls:C1337013 | BeFree | Our meta-analysis suggests that XRCC1 Arg194Trp may be a risk factor for DTC development. | 0.002171535 | 2014 | XRCC1 | 19 | 43553422 | G | A |
| rs1867277 | 25879635 | 2304 | FOXE1 | umls:C1337013 | BeFree | Significant association with DTC risk was found for rs944289 near NKX2-1 (OR per A allele = 1.6, 95% CI: 1.2-2.1), and three polymorphisms near or within FOXE1, namely rs965513 (OR per A allele = 1.7, 95% CI: 1.2-2.3), rs1867277 in the promoter region of the gene (OR per A allele = 1.5, 95% CI: 1.1-1.9) and the poly-alanine tract expansion polymorphism rs71369530 (OR per Long Allele = 1.8, 95% CI: 1.3-2.5), only the 2 latter remaining significant when correcting for multiple tests. | 0.001357209 | 2015 | FOXE1;PTCSC2 | 9 | 97853632 | A | G |
| rs1867277 | 25879635 | 7080 | NKX2-1 | umls:C1337013 | BeFree | Significant association with DTC risk was found for rs944289 near NKX2-1 (OR per A allele = 1.6, 95% CI: 1.2-2.1), and three polymorphisms near or within FOXE1, namely rs965513 (OR per A allele = 1.7, 95% CI: 1.2-2.3), rs1867277 in the promoter region of the gene (OR per A allele = 1.5, 95% CI: 1.1-1.9) and the poly-alanine tract expansion polymorphism rs71369530 (OR per Long Allele = 1.8, 95% CI: 1.3-2.5), only the 2 latter remaining significant when correcting for multiple tests. | 0.001085767 | 2015 | FOXE1;PTCSC2 | 9 | 97853632 | A | G |
| rs2248137 | 22690899 | 5727 | PTCH1 | umls:C1337013 | BeFree | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). | 0.001357209 | 2012 | CYP24A1 | 20 | 54173204 | C | G |
| rs2248137 | 22690899 | 120227 | CYP2R1 | umls:C1337013 | BeFree | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). | 0.000271442 | 2012 | CYP24A1 | 20 | 54173204 | C | G |
| rs2248137 | 22690899 | 1594 | CYP27B1 | umls:C1337013 | BeFree | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). | 0.000542884 | 2012 | CYP24A1 | 20 | 54173204 | C | G |
| rs2296241 | 22690899 | 1594 | CYP27B1 | umls:C1337013 | BeFree | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). | 0.000542884 | 2012 | CYP24A1 | 20 | 54169680 | G | A |
| rs2296241 | 22690899 | 120227 | CYP2R1 | umls:C1337013 | BeFree | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). | 0.000271442 | 2012 | CYP24A1 | 20 | 54169680 | G | A |
| rs2296241 | 22690899 | 5727 | PTCH1 | umls:C1337013 | BeFree | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). | 0.001357209 | 2012 | CYP24A1 | 20 | 54169680 | G | A |
| rs3218536 | 24377596 | 7516 | XRCC2 | umls:C1337013 | BeFree | It is recommended that Rad52 2259C>T, XRCC2 R188H and XRCC3 T241M polymorphisms should be simultaneously considered as contributing to a polygenic risk of differentiated thyroid carcinoma. | 0.000814326 | 2015 | XRCC2 | 7 | 152648922 | C | T |
| rs3218536 | 24377596 | 7517 | XRCC3 | umls:C1337013 | BeFree | It is recommended that Rad52 2259C>T, XRCC2 R188H and XRCC3 T241M polymorphisms should be simultaneously considered as contributing to a polygenic risk of differentiated thyroid carcinoma. | 0.001085767 | 2015 | XRCC2 | 7 | 152648922 | C | T |
| rs3764340 | 21520031 | 51741 | WWOX | umls:C1337013 | BeFree | Evidences that the polymorphism Pro-282-Ala within the tumor suppressor gene WWOX is a new risk factor for differentiated thyroid carcinoma. | 0.000271442 | 2011 | WWOX;LOC105376776 | 16 | 78432540 | C | G |
| rs386545044 | 24998580 | 11200 | CHEK2 | umls:C1337013 | BeFree | The finding suggests that IVS2+1G?A and Ile157Thr mutations of CHEK2 gene do not constitute a risk factor for DTC in the Iranian population. | 0.000271442 | 2015 | NA | NA | NA | NA | NA |
| rs386545546 | 24175846 | 7515 | XRCC1 | umls:C1337013 | BeFree | Our meta-analysis suggests that XRCC1 Arg194Trp may be a risk factor for DTC development. | 0.002171535 | 2014 | NA | NA | NA | NA | NA |
| rs4646536 | 22690899 | 120227 | CYP2R1 | umls:C1337013 | BeFree | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). | 0.000271442 | 2012 | CYP27B1 | 12 | 57764205 | A | G |
| rs4646536 | 22690899 | 5727 | PTCH1 | umls:C1337013 | BeFree | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). | 0.001357209 | 2012 | CYP27B1 | 12 | 57764205 | A | G |
| rs4646536 | 22690899 | 1594 | CYP27B1 | umls:C1337013 | BeFree | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). | 0.000542884 | 2012 | CYP27B1 | 12 | 57764205 | A | G |
| rs71369530 | 25879635 | 7080 | NKX2-1 | umls:C1337013 | BeFree | Significant association with DTC risk was found for rs944289 near NKX2-1 (OR per A allele = 1.6, 95% CI: 1.2-2.1), and three polymorphisms near or within FOXE1, namely rs965513 (OR per A allele = 1.7, 95% CI: 1.2-2.3), rs1867277 in the promoter region of the gene (OR per A allele = 1.5, 95% CI: 1.1-1.9) and the poly-alanine tract expansion polymorphism rs71369530 (OR per Long Allele = 1.8, 95% CI: 1.3-2.5), only the 2 latter remaining significant when correcting for multiple tests. | 0.001085767 | 2015 | FOXE1;PTCSC2 | 9 | 97854446 | GCCGCC | - |
| rs71369530 | 25879635 | 2304 | FOXE1 | umls:C1337013 | BeFree | Significant association with DTC risk was found for rs944289 near NKX2-1 (OR per A allele = 1.6, 95% CI: 1.2-2.1), and three polymorphisms near or within FOXE1, namely rs965513 (OR per A allele = 1.7, 95% CI: 1.2-2.3), rs1867277 in the promoter region of the gene (OR per A allele = 1.5, 95% CI: 1.1-1.9) and the poly-alanine tract expansion polymorphism rs71369530 (OR per Long Allele = 1.8, 95% CI: 1.3-2.5), only the 2 latter remaining significant when correcting for multiple tests. | 0.001357209 | 2015 | FOXE1;PTCSC2 | 9 | 97854446 | GCCGCC | - |
| rs861539 | 24377596 | 7516 | XRCC2 | umls:C1337013 | BeFree | It is recommended that Rad52 2259C>T, XRCC2 R188H and XRCC3 T241M polymorphisms should be simultaneously considered as contributing to a polygenic risk of differentiated thyroid carcinoma. | 0.000814326 | 2015 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 24377596 | 7517 | XRCC3 | umls:C1337013 | BeFree | It is recommended that Rad52 2259C>T, XRCC2 R188H and XRCC3 T241M polymorphisms should be simultaneously considered as contributing to a polygenic risk of differentiated thyroid carcinoma. | 0.001085767 | 2015 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs927650 | 22690899 | 1594 | CYP27B1 | umls:C1337013 | BeFree | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). | 0.000542884 | 2012 | CYP24A1 | 20 | 54156202 | T | C |
| rs927650 | 22690899 | 120227 | CYP2R1 | umls:C1337013 | BeFree | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). | 0.000271442 | 2012 | CYP24A1 | 20 | 54156202 | T | C |
| rs927650 | 22690899 | 5727 | PTCH1 | umls:C1337013 | BeFree | German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]). | 0.001357209 | 2012 | CYP24A1 | 20 | 54156202 | T | C |
| rs944289 | 24325646 | 7080 | NKX2-1 | umls:C1337013 | BeFree | The NKX2-1 rs944289 SNP, however, appears to play a secondary role in the development of DTC in the German population. | 0.001085767 | 2015 | NA | 14 | 36180040 | C | T |
| rs944289 | 25879635 | 7080 | NKX2-1 | umls:C1337013 | BeFree | Significant association with DTC risk was found for rs944289 near NKX2-1 (OR per A allele = 1.6, 95% CI: 1.2-2.1), and three polymorphisms near or within FOXE1, namely rs965513 (OR per A allele = 1.7, 95% CI: 1.2-2.3), rs1867277 in the promoter region of the gene (OR per A allele = 1.5, 95% CI: 1.1-1.9) and the poly-alanine tract expansion polymorphism rs71369530 (OR per Long Allele = 1.8, 95% CI: 1.3-2.5), only the 2 latter remaining significant when correcting for multiple tests. | 0.001085767 | 2015 | NA | 14 | 36180040 | C | T |
| rs944289 | 25879635 | 2304 | FOXE1 | umls:C1337013 | BeFree | Significant association with DTC risk was found for rs944289 near NKX2-1 (OR per A allele = 1.6, 95% CI: 1.2-2.1), and three polymorphisms near or within FOXE1, namely rs965513 (OR per A allele = 1.7, 95% CI: 1.2-2.3), rs1867277 in the promoter region of the gene (OR per A allele = 1.5, 95% CI: 1.1-1.9) and the poly-alanine tract expansion polymorphism rs71369530 (OR per Long Allele = 1.8, 95% CI: 1.3-2.5), only the 2 latter remaining significant when correcting for multiple tests. | 0.001357209 | 2015 | NA | 14 | 36180040 | C | T |
| rs965513 | 24325646 | 5727 | PTCH1 | umls:C1337013 | BeFree | Our results confirm that the FOXE1 rs965513 SNP confers an increased risk for DTC in the German population, particularly allele A and the genotypes AA and AG for PTC. | 0.001357209 | 2015 | PTCSC2;LOC105376169 | 9 | 97793827 | A | G |
| rs965513 | 25879635 | 2304 | FOXE1 | umls:C1337013 | BeFree | Significant association with DTC risk was found for rs944289 near NKX2-1 (OR per A allele = 1.6, 95% CI: 1.2-2.1), and three polymorphisms near or within FOXE1, namely rs965513 (OR per A allele = 1.7, 95% CI: 1.2-2.3), rs1867277 in the promoter region of the gene (OR per A allele = 1.5, 95% CI: 1.1-1.9) and the poly-alanine tract expansion polymorphism rs71369530 (OR per Long Allele = 1.8, 95% CI: 1.3-2.5), only the 2 latter remaining significant when correcting for multiple tests. | 0.001357209 | 2015 | PTCSC2;LOC105376169 | 9 | 97793827 | A | G |
| rs965513 | 25879635 | 7080 | NKX2-1 | umls:C1337013 | BeFree | Significant association with DTC risk was found for rs944289 near NKX2-1 (OR per A allele = 1.6, 95% CI: 1.2-2.1), and three polymorphisms near or within FOXE1, namely rs965513 (OR per A allele = 1.7, 95% CI: 1.2-2.3), rs1867277 in the promoter region of the gene (OR per A allele = 1.5, 95% CI: 1.1-1.9) and the poly-alanine tract expansion polymorphism rs71369530 (OR per Long Allele = 1.8, 95% CI: 1.3-2.5), only the 2 latter remaining significant when correcting for multiple tests. | 0.001085767 | 2015 | PTCSC2;LOC105376169 | 9 | 97793827 | A | G |
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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