PubMed:10199795
Annnotations
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10199795-3#48#94#geners121908880 | 517-563 | geners121908880 | denotes | proline to serine substitution in position 639 |
| 10199795-3#116#130#diseaseC0040156 | 585-599 | diseaseC0040156 | denotes | thyrotoxicosis |
| 48#94#geners121908880116#130#diseaseC0040156 | 10199795-3#48#94#geners121908880 | 10199795-3#116#130#diseaseC0040156 | associated_with | proline to serine substitution in position 639,thyrotoxicosis |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10199795-0#27#47#gene7253 | 27-47 | gene7253 | denotes | thyrotropin receptor |
| 10199795-0#69#83#diseaseC0040156 | 69-83 | diseaseC0040156 | denotes | thyrotoxicosis |
| 10199795-0#88#109#diseaseC0026267 | 88-109 | diseaseC0026267 | denotes | mitral valve prolapse |
| 10199795-1#28#40#gene7253 | 159-171 | gene7253 | denotes | TSH receptor |
| 10199795-1#42#47#gene7253 | 173-178 | gene7253 | denotes | TSH-R |
| 10199795-1#87#95#diseaseC0001430 | 218-226 | diseaseC0001430 | denotes | adenomas |
| 10199795-1#186#215#diseaseC1836706 | 317-346 | diseaseC1836706 | denotes | nonautoimmune hyperthyroidism |
| 27#47#gene725369#83#diseaseC0040156 | 10199795-0#27#47#gene7253 | 10199795-0#69#83#diseaseC0040156 | associated_with | thyrotropin receptor,thyrotoxicosis |
| 27#47#gene725388#109#diseaseC0026267 | 10199795-0#27#47#gene7253 | 10199795-0#88#109#diseaseC0026267 | associated_with | thyrotropin receptor,mitral valve prolapse |
| 28#40#gene725387#95#diseaseC0001430 | 10199795-1#28#40#gene7253 | 10199795-1#87#95#diseaseC0001430 | associated_with | TSH receptor,adenomas |
| 28#40#gene7253186#215#diseaseC1836706 | 10199795-1#28#40#gene7253 | 10199795-1#186#215#diseaseC1836706 | associated_with | TSH receptor,nonautoimmune hyperthyroidism |
| 42#47#gene725387#95#diseaseC0001430 | 10199795-1#42#47#gene7253 | 10199795-1#87#95#diseaseC0001430 | associated_with | TSH-R,adenomas |
| 42#47#gene7253186#215#diseaseC1836706 | 10199795-1#42#47#gene7253 | 10199795-1#186#215#diseaseC1836706 | associated_with | TSH-R,nonautoimmune hyperthyroidism |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 88-109 | HP:0001634 | denotes | mitral valve prolapse |
| AB1 | 228-248 | HP:0005987 | denotes | multinodular goiters |
| AB2 | 268-283 | HP:0000836 | denotes | hyperthyroidism |
| AB3 | 331-346 | HP:0000836 | denotes | hyperthyroidism |
| AB4 | 693-707 | HP:0025388 | denotes | thyroid nodule |
| AB5 | 887-908 | HP:0001634 | denotes | mitral valve prolapse |
| AB6 | 931-951 | HP:0001653 | denotes | mitral regurgitation |
| AB7 | 1145-1160 | HP:0100647 | denotes | Graves' disease |
| AB8 | 1185-1196 | HP:0100646 | denotes | thyroiditis |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 27-47 | gene:7253 | denotes | thyrotropin receptor |
| T1 | 69-83 | disease:C0040156 | denotes | thyrotoxicosis |
| T2 | 27-47 | gene:7253 | denotes | thyrotropin receptor |
| T3 | 88-109 | disease:C0026267 | denotes | mitral valve prolapse |
| R1 | T0 | T1 | associated_with | thyrotropin receptor,thyrotoxicosis |
| R2 | T2 | T3 | associated_with | thyrotropin receptor,mitral valve prolapse |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 228-248 | HP_0005987 | denotes | multinodular goiters |
| T2 | 241-248 | HP_0000853 | denotes | goiters |
| T3 | 268-283 | HP_0000836 | denotes | hyperthyroidism |
| T4 | 298-316 | HP_0000006 | denotes | autosomal dominant |
| T5 | 331-346 | HP_0000836 | denotes | hyperthyroidism |
| T6 | 887-908 | HP_0001634 | denotes | mitral valve prolapse |
| T7 | 931-951 | HP_0001653 | denotes | mitral regurgitation |
| T8 | 1145-1160 | HP_0100647 | denotes | Graves' disease |
| T9 | 1252-1262 | HP_0002960 | denotes | autoimmune |
| T10 | 1263-1278 | HP_0000820 | denotes | thyroid disease |