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PubMed:10199795 JSONTXT

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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