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PubMed:15623763 JSONTXT

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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
15623763_0 960-984 ProteinMutation denotes valine-539-aspartic acid rs1382893670
15623763_1 1108-1132 ProteinMutation denotes arginine 124-to-cysteine rs121909211
15623763_2 1401-1427 ProteinMutation denotes arginine 555-to-tryptophan rs121909208
15623763_3 1616-1644 ProteinMutation denotes leucine 269 to phenylalanine rs199852470

TEST-DiseaseOrPhenotypicFeature

Id Subject Object Predicate Lexical cue #label
T1 50-69 DiseaseOrPhenotypicFeature denotes corneal dystrophies D003317
T2 171-188 DiseaseOrPhenotypicFeature denotes corneal dystrophy D003317
T3 207-224 DiseaseOrPhenotypicFeature denotes corneal dystrophy D003317
T4 1473-1496 DiseaseOrPhenotypicFeature denotes Reis-Bucklers dystrophy C535476

TEST-ChemicalEntity

Id Subject Object Predicate Lexical cue ID:
T1 908-915 ChemicalEntity denotes glycine http://purl.obolibrary.org/obo/CHEBI_57305|http://purl.obolibrary.org/obo/CHEBI_29947|http://purl.obolibrary.org/obo/CHEBI_15428
T4 920-926 ChemicalEntity denotes valine http://purl.obolibrary.org/obo/CHEBI_27266
T5 960-966 ChemicalEntity denotes valine http://purl.obolibrary.org/obo/CHEBI_27266
T6 971-984 ChemicalEntity denotes aspartic acid http://purl.obolibrary.org/obo/CHEBI_22660
T7 1027-1033 ChemicalEntity denotes valine http://purl.obolibrary.org/obo/CHEBI_27266
T8 1039-1045 ChemicalEntity denotes valine http://purl.obolibrary.org/obo/CHEBI_27266
T9 1108-1116 ChemicalEntity denotes arginine http://purl.obolibrary.org/obo/CHEBI_32696|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_16467
T12 1124-1132 ChemicalEntity denotes cysteine http://purl.obolibrary.org/obo/CHEBI_15356
T13 1179-1188 ChemicalEntity denotes histidine http://purl.obolibrary.org/obo/CHEBI_27570
T14 1196-1204 ChemicalEntity denotes arginine http://purl.obolibrary.org/obo/CHEBI_32696|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_16467
T17 1401-1409 ChemicalEntity denotes arginine http://purl.obolibrary.org/obo/CHEBI_32696|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_16467
T20 1417-1427 ChemicalEntity denotes tryptophan http://purl.obolibrary.org/obo/CHEBI_57912|http://purl.obolibrary.org/obo/CHEBI_57719|http://purl.obolibrary.org/obo/CHEBI_27897|http://purl.obolibrary.org/obo/CHEBI_16828
T24 1616-1623 ChemicalEntity denotes leucine http://purl.obolibrary.org/obo/CHEBI_25017
T25 1631-1644 ChemicalEntity denotes phenylalanine http://purl.obolibrary.org/obo/CHEBI_58095|http://purl.obolibrary.org/obo/CHEBI_28044

TEST-OrganismTaxon

Id Subject Object Predicate Lexical cue
T1 80-88 OrganismTaxon denotes patients
T2 149-157 OrganismTaxon denotes patients
T3 312-320 OrganismTaxon denotes patients
T4 803-811 OrganismTaxon denotes patients
T5 835-843 OrganismTaxon denotes patients
T6 950-958 OrganismTaxon denotes patients
T7 1002-1009 OrganismTaxon denotes patient
T8 1074-1081 OrganismTaxon denotes patient
T9 1166-1174 OrganismTaxon denotes patients
T10 1228-1236 OrganismTaxon denotes patients
T11 1287-1295 OrganismTaxon denotes patients
T12 1358-1366 OrganismTaxon denotes patients
T13 1446-1453 OrganismTaxon denotes patient
T14 1679-1687 OrganismTaxon denotes patients

Test-SequenceVariant

Id Subject Object Predicate Lexical cue
T1 928-937 SequenceVariant denotes Gly594Val
T2 986-995 SequenceVariant denotes Val539Asp
T3 1015-1033 SequenceVariant denotes deletion of valine
T4 1051-1061 SequenceVariant denotes Val624-Val
T5 1134-1143 SequenceVariant denotes Arg124Cys
T6 1206-1215 SequenceVariant denotes His626Arg
T7 1305-1314 SequenceVariant denotes Gly594Val
T8 1319-1329 SequenceVariant denotes Val624-Val
T9 1429-1438 SequenceVariant denotes Arg555Trp
T10 1507-1516 SequenceVariant denotes Arg124Leu
T11 1646-1655 SequenceVariant denotes Leu269Phe
T12 1697-1706 SequenceVariant denotes Arg555Trp
T13 1730-1739 SequenceVariant denotes Arg124Cys
T14 1744-1753 SequenceVariant denotes Arg555Trp

Test-GeneOrGeneProduct

Id Subject Object Predicate Lexical cue
T1 0-5 GeneOrGeneProduct denotes TGFBI
T2 128-133 GeneOrGeneProduct denotes TGFBI
T3 226-229 GeneOrGeneProduct denotes GCD
T4 359-362 GeneOrGeneProduct denotes GCD
T5 388-391 GeneOrGeneProduct denotes GCD
T6 506-511 GeneOrGeneProduct denotes TGFBI
T7 849-852 GeneOrGeneProduct denotes GCD
T8 1350-1353 GeneOrGeneProduct denotes GCD
T9 1372-1375 GeneOrGeneProduct denotes GCD
T10 1459-1462 GeneOrGeneProduct denotes GCD
T11 1809-1812 GeneOrGeneProduct denotes GCD

Test-merged-2

Id Subject Object Predicate Lexical cue #label ID:
T33232 928-937 SequenceVariant denotes Gly594Val
T38996 986-995 SequenceVariant denotes Val539Asp
T95914 1015-1033 SequenceVariant denotes deletion of valine
T28122 1051-1061 SequenceVariant denotes Val624-Val
T43632 1134-1143 SequenceVariant denotes Arg124Cys
T93851 1206-1215 SequenceVariant denotes His626Arg
T4830 1305-1314 SequenceVariant denotes Gly594Val
T97062 1319-1329 SequenceVariant denotes Val624-Val
T59735 1429-1438 SequenceVariant denotes Arg555Trp
T59352 1507-1516 SequenceVariant denotes Arg124Leu
T70280 1646-1655 SequenceVariant denotes Leu269Phe
T42900 1697-1706 SequenceVariant denotes Arg555Trp
T12090 1730-1739 SequenceVariant denotes Arg124Cys
T79541 1744-1753 SequenceVariant denotes Arg555Trp
T17606 908-915 ChemicalEntity denotes glycine http://purl.obolibrary.org/obo/CHEBI_57305|http://purl.obolibrary.org/obo/CHEBI_29947|http://purl.obolibrary.org/obo/CHEBI_15428
T81461 920-926 ChemicalEntity denotes valine http://purl.obolibrary.org/obo/CHEBI_27266
T90847 960-966 ChemicalEntity denotes valine http://purl.obolibrary.org/obo/CHEBI_27266
T99375 971-984 ChemicalEntity denotes aspartic acid http://purl.obolibrary.org/obo/CHEBI_22660
T11303 1027-1033 ChemicalEntity denotes valine http://purl.obolibrary.org/obo/CHEBI_27266
T12456 1039-1045 ChemicalEntity denotes valine http://purl.obolibrary.org/obo/CHEBI_27266
T55373 1108-1116 ChemicalEntity denotes arginine http://purl.obolibrary.org/obo/CHEBI_32696|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_16467
T53346 1124-1132 ChemicalEntity denotes cysteine http://purl.obolibrary.org/obo/CHEBI_15356
T33629 1179-1188 ChemicalEntity denotes histidine http://purl.obolibrary.org/obo/CHEBI_27570
T33334 1196-1204 ChemicalEntity denotes arginine http://purl.obolibrary.org/obo/CHEBI_32696|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_16467
T17 1401-1409 ChemicalEntity denotes arginine http://purl.obolibrary.org/obo/CHEBI_32696|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_16467
T20 1417-1427 ChemicalEntity denotes tryptophan http://purl.obolibrary.org/obo/CHEBI_57912|http://purl.obolibrary.org/obo/CHEBI_57719|http://purl.obolibrary.org/obo/CHEBI_27897|http://purl.obolibrary.org/obo/CHEBI_16828
T24 1616-1623 ChemicalEntity denotes leucine http://purl.obolibrary.org/obo/CHEBI_25017
T25 1631-1644 ChemicalEntity denotes phenylalanine http://purl.obolibrary.org/obo/CHEBI_58095|http://purl.obolibrary.org/obo/CHEBI_28044
T99345 0-5 GeneOrGeneProduct denotes TGFBI
T35913 128-133 GeneOrGeneProduct denotes TGFBI
T58381 226-229 GeneOrGeneProduct denotes GCD
T94313 359-362 GeneOrGeneProduct denotes GCD
T55017 388-391 GeneOrGeneProduct denotes GCD
T91876 506-511 GeneOrGeneProduct denotes TGFBI
T58998 849-852 GeneOrGeneProduct denotes GCD
T79633 1350-1353 GeneOrGeneProduct denotes GCD
T28400 1372-1375 GeneOrGeneProduct denotes GCD
T74939 1459-1462 GeneOrGeneProduct denotes GCD
T25403 1809-1812 GeneOrGeneProduct denotes GCD
T24761 80-88 OrganismTaxon denotes patients
T99962 149-157 OrganismTaxon denotes patients
T11587 312-320 OrganismTaxon denotes patients
T34870 803-811 OrganismTaxon denotes patients
T5 835-843 OrganismTaxon denotes patients
T6 950-958 OrganismTaxon denotes patients
T7 1002-1009 OrganismTaxon denotes patient
T8 1074-1081 OrganismTaxon denotes patient
T9 1166-1174 OrganismTaxon denotes patients
T10 1228-1236 OrganismTaxon denotes patients
T11 1287-1295 OrganismTaxon denotes patients
T12 1358-1366 OrganismTaxon denotes patients
T13 1446-1453 OrganismTaxon denotes patient
T14 1679-1687 OrganismTaxon denotes patients
T1 50-69 DiseaseOrPhenotypicFeature denotes corneal dystrophies D003317
T2 171-188 DiseaseOrPhenotypicFeature denotes corneal dystrophy D003317
T3 207-224 DiseaseOrPhenotypicFeature denotes corneal dystrophy D003317
T4 1473-1496 DiseaseOrPhenotypicFeature denotes Reis-Bucklers dystrophy C535476

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
15623763-11#160#169#geners121909211 1507-1516 geners121909211 denotes Arg124Leu
15623763-11#54#80#geners121909208 1401-1427 geners121909208 denotes arginine 555-to-tryptophan
15623763-11#82#91#geners121909208 1429-1438 geners121909208 denotes Arg555Trp
15623763-11#25#28#diseaseC0018179 1372-1375 diseaseC0018179 denotes GCD
15623763-11#112#115#diseaseC0018179 1459-1462 diseaseC0018179 denotes GCD
15623763-11#126#149#diseaseC0339278 1473-1496 diseaseC0339278 denotes Reis-Bucklers dystrophy
15623763-13#14#23#geners121909208 1744-1753 geners121909208 denotes Arg555Trp
15623763-13#0#9#geners121909210 1730-1739 geners121909210 denotes Arg124Cys
15623763-13#71#74#diseaseC1690006 1801-1804 diseaseC1690006 denotes LCD
15623763-13#79#82#diseaseC0018179 1809-1812 diseaseC0018179 denotes GCD
15623763-13#71#74#diseaseC1690006 1801-1804 diseaseC1690006 denotes LCD
15623763-13#79#82#diseaseC0018179 1809-1812 diseaseC0018179 denotes GCD
160#169#geners12190921125#28#diseaseC0018179 15623763-11#160#169#geners121909211 15623763-11#25#28#diseaseC0018179 associated_with Arg124Leu,GCD
160#169#geners121909211112#115#diseaseC0018179 15623763-11#160#169#geners121909211 15623763-11#112#115#diseaseC0018179 associated_with Arg124Leu,GCD
160#169#geners121909211126#149#diseaseC0339278 15623763-11#160#169#geners121909211 15623763-11#126#149#diseaseC0339278 associated_with Arg124Leu,Reis-Bucklers dystrophy
54#80#geners12190920825#28#diseaseC0018179 15623763-11#54#80#geners121909208 15623763-11#25#28#diseaseC0018179 associated_with arginine 555-to-tryptophan,GCD
54#80#geners121909208112#115#diseaseC0018179 15623763-11#54#80#geners121909208 15623763-11#112#115#diseaseC0018179 associated_with arginine 555-to-tryptophan,GCD
54#80#geners121909208126#149#diseaseC0339278 15623763-11#54#80#geners121909208 15623763-11#126#149#diseaseC0339278 associated_with arginine 555-to-tryptophan,Reis-Bucklers dystrophy
82#91#geners12190920825#28#diseaseC0018179 15623763-11#82#91#geners121909208 15623763-11#25#28#diseaseC0018179 associated_with Arg555Trp,GCD
82#91#geners121909208112#115#diseaseC0018179 15623763-11#82#91#geners121909208 15623763-11#112#115#diseaseC0018179 associated_with Arg555Trp,GCD
82#91#geners121909208126#149#diseaseC0339278 15623763-11#82#91#geners121909208 15623763-11#126#149#diseaseC0339278 associated_with Arg555Trp,Reis-Bucklers dystrophy
14#23#geners12190920871#74#diseaseC1690006 15623763-13#14#23#geners121909208 15623763-13#71#74#diseaseC1690006 associated_with Arg555Trp,LCD
14#23#geners12190920879#82#diseaseC0018179 15623763-13#14#23#geners121909208 15623763-13#79#82#diseaseC0018179 associated_with Arg555Trp,GCD
14#23#geners12190920871#74#diseaseC1690006 15623763-13#14#23#geners121909208 15623763-13#71#74#diseaseC1690006 associated_with Arg555Trp,LCD
14#23#geners12190920879#82#diseaseC0018179 15623763-13#14#23#geners121909208 15623763-13#79#82#diseaseC0018179 associated_with Arg555Trp,GCD
0#9#geners12190921071#74#diseaseC1690006 15623763-13#0#9#geners121909210 15623763-13#71#74#diseaseC1690006 associated_with Arg124Cys,LCD
0#9#geners12190921079#82#diseaseC0018179 15623763-13#0#9#geners121909210 15623763-13#79#82#diseaseC0018179 associated_with Arg124Cys,GCD
0#9#geners12190921071#74#diseaseC1690006 15623763-13#0#9#geners121909210 15623763-13#71#74#diseaseC1690006 associated_with Arg124Cys,LCD
0#9#geners12190921079#82#diseaseC0018179 15623763-13#0#9#geners121909210 15623763-13#79#82#diseaseC0018179 associated_with Arg124Cys,GCD

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
15623763-0#0#5#gene7045 0-5 gene7045 denotes TGFBI
15623763-0#50#69#diseaseC0010036 50-69 diseaseC0010036 denotes corneal dystrophies
15623763-1#29#34#gene7045 128-133 gene7045 denotes TGFBI
15623763-1#64#89#diseaseC0155127 163-188 diseaseC0155127 denotes lattice corneal dystrophy
15623763-1#91#94#diseaseC1690006 190-193 diseaseC1690006 denotes LCD
15623763-1#99#125#diseaseC0018179 198-224 diseaseC0018179 denotes granular corneal dystrophy
15623763-1#127#130#diseaseC0018179 226-229 diseaseC0018179 denotes GCD
0#5#gene704550#69#diseaseC0010036 15623763-0#0#5#gene7045 15623763-0#50#69#diseaseC0010036 associated_with TGFBI,corneal dystrophies
29#34#gene704564#89#diseaseC0155127 15623763-1#29#34#gene7045 15623763-1#64#89#diseaseC0155127 associated_with TGFBI,lattice corneal dystrophy
29#34#gene704591#94#diseaseC1690006 15623763-1#29#34#gene7045 15623763-1#91#94#diseaseC1690006 associated_with TGFBI,LCD
29#34#gene704599#125#diseaseC0018179 15623763-1#29#34#gene7045 15623763-1#99#125#diseaseC0018179 associated_with TGFBI,granular corneal dystrophy
29#34#gene7045127#130#diseaseC0018179 15623763-1#29#34#gene7045 15623763-1#127#130#diseaseC0018179 associated_with TGFBI,GCD

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 908-926 ProteinMutation:p|SUB|G|594|V denotes glycine-594-valine
T2 928-937 ProteinMutation:p|SUB|G|594|V denotes Gly594Val
T3 960-979 ProteinMutation:p|SUB|V|539|D denotes valine-539-aspartic
T4 986-995 ProteinMutation:p|SUB|V|539|D denotes Val539Asp
T5 1051-1067 ProteinMutation:p|DEL|624_625|VV denotes Val624-Val625del
T6 1108-1132 ProteinMutation:p|SUB|R|124|C denotes arginine 124-to-cysteine
T7 1134-1143 ProteinMutation:p|SUB|R|124|C denotes Arg124Cys
T8 1179-1204 ProteinMutation:p|SUB|H|626|R denotes histidine 626-to-arginine
T9 1206-1215 ProteinMutation:p|SUB|H|626|R denotes His626Arg
T10 1305-1314 ProteinMutation:p|SUB|G|594|V denotes Gly594Val
T11 1319-1335 ProteinMutation:p|DEL|624_625|VV denotes Val624-Val625del
T12 1401-1427 ProteinMutation:p|SUB|R|555|W denotes arginine 555-to-tryptophan
T13 1429-1438 ProteinMutation:p|SUB|R|555|W denotes Arg555Trp
T14 1507-1516 ProteinMutation:p|SUB|R|124|L denotes Arg124Leu
T15 1616-1644 ProteinMutation:p|SUB|L|269|F denotes leucine 269 to phenylalanine
T16 1646-1655 ProteinMutation:p|SUB|L|269|F denotes Leu269Phe
T17 1697-1706 ProteinMutation:p|SUB|R|555|W denotes Arg555Trp
T18 1730-1739 ProteinMutation:p|SUB|R|124|C denotes Arg124Cys
T19 1744-1753 ProteinMutation:p|SUB|R|555|W denotes Arg555Trp

DisGeNET

Id Subject Object Predicate Lexical cue
T0 0-5 gene:7045 denotes TGFBI
T1 50-69 disease:C0010036 denotes corneal dystrophies
R1 T0 T1 associated_with TGFBI,corneal dystrophies