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PubMed:15749661 JSONTXT

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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
15749661_0 21-26 ProteinMutation denotes L490R rs80338886
15749661_1 169-174 ProteinMutation denotes C282Y rs1800562
15749661_2 886-891 ProteinMutation denotes L490R rs80338886
15749661_3 968-973 ProteinMutation denotes I238M rs34242818
15749661_4 1011-1016 ProteinMutation denotes L490R rs80338886
15749661_5 1050-1055 ProteinMutation denotes L490R rs80338886
15749661_6 1060-1065 ProteinMutation denotes I238M rs34242818

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-115 Sentence denotes Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis.
T2 116-142 Sentence denotes BACKGROUND AND OBJECTIVES:
T3 143-299 Sentence denotes The low prevalence of the C282Y mutation of the HFE gene in Japan means that the genetic background of hemochromatosis in Japanese patients remains unclear.
T4 300-433 Sentence denotes In a previous report, we showed that 3 patients from one family had an AVAQ 594-597 deletion of the transferrin receptor (TfR2) gene.
T5 434-519 Sentence denotes This suggests that the TfR2 gene is involved in hemochromatosis in Japanese patients.
T6 520-539 Sentence denotes DESIGN AND METHODS:
T7 540-623 Sentence denotes Nine patients clinically diagnosed with hemochromatosis were included in the study.
T8 624-699 Sentence denotes DNA was extracted from whole blood samples collected with informed consent.
T9 700-788 Sentence denotes The HFE and TfR2 genes were analyzed by sequencing the coding region and splicing sites.
T10 789-797 Sentence denotes RESULTS:
T11 798-838 Sentence denotes There were no mutations in the HFE gene.
T12 839-940 Sentence denotes In the TfR2 gene, 2 novel mutations, 1469T->G (L490R) and 1665delC (V561X), were found in 2 patients.
T13 941-1017 Sentence denotes A known variation, 714C-> (I238M), was also found in the patient with L490R.
T14 1018-1144 Sentence denotes The patient homozygous for both L490R and I238M presented with a mild manifestation of hemochromatosis at the age of 41 years.
T15 1145-1281 Sentence denotes His liver was cirrhotic with parenchymal iron deposits and the result of a glucose tolerance test was compatible with diabetes mellitus.
T16 1282-1432 Sentence denotes The patient homozygous for V561X had severe iron overload with the triad of cirrhosis, diabetes mellitus and skin pigmentation at the age of 58 years.
T17 1433-1464 Sentence denotes INTERPRETATION AND CONCLUSIONS:
T18 1465-1605 Sentence denotes Taken together with the previous report, 5 of our 12 patients with hemochromatosis manifesting in middle age had mutations in the TfR2 gene.
T19 1606-1678 Sentence denotes Thus, TfR2 plays a role in the pathogenesis of hemochromatosis in Japan.

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
1495 21-26 SequenceVariant denotes L490R DBSNP:rs80338886
1496 31-36 SequenceVariant denotes V561X DBSNP:rs80338887
1497 45-67 GeneOrGeneProduct denotes transferrin receptor 2 NCBIGene:7036
1498 85-93 OrganismTaxon denotes patients NCBITaxon:9606
1499 99-114 DiseaseOrPhenotypicFeature denotes hemochromatosis MESH:D006432
1500 169-174 SequenceVariant denotes C282Y DBSNP:rs1800562
1501 191-194 GeneOrGeneProduct denotes HFE NCBIGene:3077
1502 246-261 DiseaseOrPhenotypicFeature denotes hemochromatosis MESH:D006432
1503 274-282 OrganismTaxon denotes patients NCBITaxon:9606
1504 339-347 OrganismTaxon denotes patients NCBITaxon:9606
1505 371-392 SequenceVariant denotes AVAQ 594-597 deletion p|DEL|594_597|AVAQ
1506 400-420 GeneOrGeneProduct denotes transferrin receptor NCBIGene:7036
1507 422-426 GeneOrGeneProduct denotes TfR2 NCBIGene:7036
1508 457-461 GeneOrGeneProduct denotes TfR2 NCBIGene:7036
1509 482-497 DiseaseOrPhenotypicFeature denotes hemochromatosis MESH:D006432
1510 510-518 OrganismTaxon denotes patients NCBITaxon:9606
1511 545-553 OrganismTaxon denotes patients NCBITaxon:9606
1512 580-595 DiseaseOrPhenotypicFeature denotes hemochromatosis MESH:D006432
1513 704-707 GeneOrGeneProduct denotes HFE NCBIGene:3077
1514 712-716 GeneOrGeneProduct denotes TfR2 NCBIGene:7036
1515 829-832 GeneOrGeneProduct denotes HFE NCBIGene:3077
1516 846-850 GeneOrGeneProduct denotes TfR2 NCBIGene:7036
1517 876-884 SequenceVariant denotes 1469T->G DBSNP:rs80338886
1518 886-891 SequenceVariant denotes L490R DBSNP:rs80338886
1519 897-905 SequenceVariant denotes 1665delC DBSNP:rs80338887
1520 907-912 SequenceVariant denotes V561X DBSNP:rs80338887
1521 931-939 OrganismTaxon denotes patients NCBITaxon:9606
1522 960-964 SequenceVariant denotes 714C DBSNP:rs34242818
1523 968-973 SequenceVariant denotes I238M DBSNP:rs34242818
1524 998-1005 OrganismTaxon denotes patient NCBITaxon:9606
1525 1011-1016 SequenceVariant denotes L490R DBSNP:rs80338886
1526 1022-1029 OrganismTaxon denotes patient NCBITaxon:9606
1527 1050-1055 SequenceVariant denotes L490R DBSNP:rs80338886
1528 1060-1065 SequenceVariant denotes I238M DBSNP:rs34242818
1529 1105-1120 DiseaseOrPhenotypicFeature denotes hemochromatosis MESH:D006432
1530 1159-1168 DiseaseOrPhenotypicFeature denotes cirrhotic MESH:D008103
1531 1186-1190 ChemicalEntity denotes iron MESH:D007501
1532 1220-1227 ChemicalEntity denotes glucose MESH:D005947
1533 1263-1280 DiseaseOrPhenotypicFeature denotes diabetes mellitus MESH:D003920
1534 1286-1293 OrganismTaxon denotes patient NCBITaxon:9606
1535 1309-1314 SequenceVariant denotes V561X DBSNP:rs80338887
1536 1326-1339 DiseaseOrPhenotypicFeature denotes iron overload MESH:D019190
1537 1358-1367 DiseaseOrPhenotypicFeature denotes cirrhosis MESH:D008103
1538 1369-1386 DiseaseOrPhenotypicFeature denotes diabetes mellitus MESH:D003920
1539 1391-1408 DiseaseOrPhenotypicFeature denotes skin pigmentation MESH:D010859
1540 1518-1526 OrganismTaxon denotes patients NCBITaxon:9606
1541 1532-1547 DiseaseOrPhenotypicFeature denotes hemochromatosis MESH:D006432
1542 1595-1599 GeneOrGeneProduct denotes TfR2 NCBIGene:7036
1543 1612-1616 GeneOrGeneProduct denotes TfR2 NCBIGene:7036
1544 1653-1668 DiseaseOrPhenotypicFeature denotes hemochromatosis MESH:D006432

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 1263-1280 DiseaseOrPhenotypicFeature denotes diabetes mellitus 0005015
T2 1369-1386 DiseaseOrPhenotypicFeature denotes diabetes mellitus 0005015

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 21-26 SequenceVariant denotes L490R
T2 31-36 SequenceVariant denotes V561X
T3 169-174 SequenceVariant denotes C282Y
T4 384-399 SequenceVariant denotes deletion of the
T5 876-881 SequenceVariant denotes 1469T
T6 886-891 SequenceVariant denotes L490R
T7 897-905 SequenceVariant denotes 1665delC
T8 907-912 SequenceVariant denotes V561X
T9 960-964 SequenceVariant denotes 714C
T10 968-973 SequenceVariant denotes I238M
T11 1011-1016 SequenceVariant denotes L490R
T12 1050-1055 SequenceVariant denotes L490R
T13 1060-1065 SequenceVariant denotes I238M
T14 1309-1314 SequenceVariant denotes V561X

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T15 712-716 GeneOrGeneProduct denotes TfR2
T1 4-9 GeneOrGeneProduct denotes novel
T2 10-19 GeneOrGeneProduct denotes mutations
T3 45-67 GeneOrGeneProduct denotes transferrin receptor 2
T4 99-114 GeneOrGeneProduct denotes hemochromatosis
T5 175-183 GeneOrGeneProduct denotes mutation
T6 246-261 GeneOrGeneProduct denotes hemochromatosis
T7 291-298 GeneOrGeneProduct denotes unclear
T8 400-420 GeneOrGeneProduct denotes transferrin receptor
T9 422-426 GeneOrGeneProduct denotes TfR2
T10 457-461 GeneOrGeneProduct denotes TfR2
T11 482-497 GeneOrGeneProduct denotes hemochromatosis
T12 527-538 GeneOrGeneProduct denotes AND METHODS
T13 540-544 GeneOrGeneProduct denotes Nine
T14 580-595 GeneOrGeneProduct denotes hemochromatosis
T16 773-781 GeneOrGeneProduct denotes splicing
T17 809-821 GeneOrGeneProduct denotes no mutations
T18 846-850 GeneOrGeneProduct denotes TfR2
T19 851-858 GeneOrGeneProduct denotes gene, 2
T20 859-864 GeneOrGeneProduct denotes novel
T21 865-874 GeneOrGeneProduct denotes mutations
T22 926-930 GeneOrGeneProduct denotes in 2
T33 1426-1431 GeneOrGeneProduct denotes years
T23 1105-1120 GeneOrGeneProduct denotes hemochromatosis
T24 1138-1143 GeneOrGeneProduct denotes years
T25 1149-1154 GeneOrGeneProduct denotes liver
T26 1186-1190 GeneOrGeneProduct denotes iron
T27 1228-1237 GeneOrGeneProduct denotes tolerance
T28 1238-1242 GeneOrGeneProduct denotes test
T29 1263-1271 GeneOrGeneProduct denotes diabetes
T30 1326-1330 GeneOrGeneProduct denotes iron
T31 1369-1377 GeneOrGeneProduct denotes diabetes
T32 1391-1395 GeneOrGeneProduct denotes skin
T34 1532-1547 GeneOrGeneProduct denotes hemochromatosis
T35 1578-1587 GeneOrGeneProduct denotes mutations
T36 1595-1599 GeneOrGeneProduct denotes TfR2
T37 1612-1616 GeneOrGeneProduct denotes TfR2
T38 1653-1668 GeneOrGeneProduct denotes hemochromatosis

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 4-9 GeneOrGeneProduct denotes novel
T2 45-67 GeneOrGeneProduct denotes transferrin receptor 2
T3 99-114 GeneOrGeneProduct denotes hemochromatosis
T4 246-261 GeneOrGeneProduct denotes hemochromatosis
T5 291-298 GeneOrGeneProduct denotes unclear
T6 400-420 GeneOrGeneProduct denotes transferrin receptor
T7 482-497 GeneOrGeneProduct denotes hemochromatosis
T8 580-595 GeneOrGeneProduct denotes hemochromatosis
T9 851-858 GeneOrGeneProduct denotes gene, 2
T10 859-864 GeneOrGeneProduct denotes novel
T11 1105-1120 GeneOrGeneProduct denotes hemochromatosis
T12 1149-1154 GeneOrGeneProduct denotes liver
T13 1263-1271 GeneOrGeneProduct denotes diabetes
T14 1369-1377 GeneOrGeneProduct denotes diabetes
T15 1532-1547 GeneOrGeneProduct denotes hemochromatosis
T16 1653-1668 GeneOrGeneProduct denotes hemochromatosis

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 99-114 DiseaseOrPhenotypicFeature denotes hemochromatosis D006432
T2 246-261 DiseaseOrPhenotypicFeature denotes hemochromatosis D006432
T3 482-497 DiseaseOrPhenotypicFeature denotes hemochromatosis D006432
T4 580-595 DiseaseOrPhenotypicFeature denotes hemochromatosis D006432
T5 1105-1120 DiseaseOrPhenotypicFeature denotes hemochromatosis D006432
T6 1159-1168 DiseaseOrPhenotypicFeature denotes cirrhotic DISEASE
T7 1263-1280 DiseaseOrPhenotypicFeature denotes diabetes mellitus D003920
T8 1326-1339 DiseaseOrPhenotypicFeature denotes iron overload D019190
T9 1358-1367 DiseaseOrPhenotypicFeature denotes cirrhosis D005355
T10 1369-1386 DiseaseOrPhenotypicFeature denotes diabetes mellitus D003920
T11 1532-1547 DiseaseOrPhenotypicFeature denotes hemochromatosis D006432
T12 1653-1668 DiseaseOrPhenotypicFeature denotes hemochromatosis D006432

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 45-67 GeneOrGeneProduct denotes transferrin receptor 2
T2 400-420 GeneOrGeneProduct denotes transferrin receptor
T3 851-858 GeneOrGeneProduct denotes gene, 2

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 99-114 DiseaseOrPhenotypicFeature denotes hemochromatosis 0006507
T2 246-261 DiseaseOrPhenotypicFeature denotes hemochromatosis 0006507
T3 482-497 DiseaseOrPhenotypicFeature denotes hemochromatosis 0006507
T4 580-595 DiseaseOrPhenotypicFeature denotes hemochromatosis 0006507
T5 1105-1120 DiseaseOrPhenotypicFeature denotes hemochromatosis 0006507
T6 1263-1280 DiseaseOrPhenotypicFeature denotes diabetes mellitus 0005015
T7 1358-1367 DiseaseOrPhenotypicFeature denotes cirrhosis 0005155
T8 1369-1386 DiseaseOrPhenotypicFeature denotes diabetes mellitus 0005015
T9 1391-1395 DiseaseOrPhenotypicFeature denotes skin 0002531
T10 1532-1547 DiseaseOrPhenotypicFeature denotes hemochromatosis 0006507
T11 1653-1668 DiseaseOrPhenotypicFeature denotes hemochromatosis 0006507

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 99-114 DiseaseOrPhenotypicFeature denotes hemochromatosis D006432
T2 246-261 DiseaseOrPhenotypicFeature denotes hemochromatosis D006432
T3 482-497 DiseaseOrPhenotypicFeature denotes hemochromatosis D006432
T4 580-595 DiseaseOrPhenotypicFeature denotes hemochromatosis D006432
T5 1105-1120 DiseaseOrPhenotypicFeature denotes hemochromatosis D006432
T6 1159-1168 DiseaseOrPhenotypicFeature denotes cirrhotic DISEASE
T7 1263-1280 DiseaseOrPhenotypicFeature denotes diabetes mellitus D003920
T8 1326-1339 DiseaseOrPhenotypicFeature denotes iron overload D019190
T9 1358-1367 DiseaseOrPhenotypicFeature denotes cirrhosis D005355
T10 1369-1386 DiseaseOrPhenotypicFeature denotes diabetes mellitus D003920
T11 1391-1408 DiseaseOrPhenotypicFeature denotes skin pigmentation DISEASE
T12 1532-1547 DiseaseOrPhenotypicFeature denotes hemochromatosis D006432
T13 1653-1668 DiseaseOrPhenotypicFeature denotes hemochromatosis D006432

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 99-114 DiseaseOrPhenotypicFeature denotes hemochromatosis D006432
T2 246-261 DiseaseOrPhenotypicFeature denotes hemochromatosis D006432
T3 482-497 DiseaseOrPhenotypicFeature denotes hemochromatosis D006432
T4 580-595 DiseaseOrPhenotypicFeature denotes hemochromatosis D006432
T5 1105-1120 DiseaseOrPhenotypicFeature denotes hemochromatosis D006432
T6 1159-1168 DiseaseOrPhenotypicFeature denotes cirrhotic DISEASE
T7 1263-1280 DiseaseOrPhenotypicFeature denotes diabetes mellitus D003920
T8 1326-1339 DiseaseOrPhenotypicFeature denotes iron overload D019190
T9 1358-1367 DiseaseOrPhenotypicFeature denotes cirrhosis D005355
T10 1369-1386 DiseaseOrPhenotypicFeature denotes diabetes mellitus D003920
T11 1391-1408 DiseaseOrPhenotypicFeature denotes skin pigmentation DISEASE
T12 1532-1547 DiseaseOrPhenotypicFeature denotes hemochromatosis D006432
T13 1653-1668 DiseaseOrPhenotypicFeature denotes hemochromatosis D006432

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 1186-1190 ChemicalEntity denotes iron D007501|http://purl.obolibrary.org/obo/CHEBI_18248
T3 1220-1227 ChemicalEntity denotes glucose D005947|http://purl.obolibrary.org/obo/CHEBI_4167|http://purl.obolibrary.org/obo/CHEBI_17234
T6 1326-1330 ChemicalEntity denotes iron D007501|http://purl.obolibrary.org/obo/CHEBI_18248

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 85-93 OrganismTaxon denotes patients
T2 274-282 OrganismTaxon denotes patients
T3 339-347 OrganismTaxon denotes patients
T4 510-518 OrganismTaxon denotes patients
T5 545-553 OrganismTaxon denotes patients
T6 931-939 OrganismTaxon denotes patients
T7 998-1005 OrganismTaxon denotes patient
T8 1022-1029 OrganismTaxon denotes patient
T9 1286-1293 OrganismTaxon denotes patient
T10 1518-1526 OrganismTaxon denotes patients

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T6 1326-1330 ChemicalEntity denotes iron http://purl.obolibrary.org/obo/CHEBI_18248|D007501
T3 1220-1227 ChemicalEntity denotes glucose http://purl.obolibrary.org/obo/CHEBI_17234|http://purl.obolibrary.org/obo/CHEBI_4167|D005947
T1 1186-1190 ChemicalEntity denotes iron http://purl.obolibrary.org/obo/CHEBI_18248|D007501
T82976 851-858 GeneOrGeneProduct denotes gene, 2
T2 400-420 GeneOrGeneProduct denotes transferrin receptor
T2016 45-67 GeneOrGeneProduct denotes transferrin receptor 2
T13 1653-1668 DiseaseOrPhenotypicFeature denotes hemochromatosis D006432
T12 1532-1547 DiseaseOrPhenotypicFeature denotes hemochromatosis D006432
T11 1391-1408 DiseaseOrPhenotypicFeature denotes skin pigmentation DISEASE
T10 1369-1386 DiseaseOrPhenotypicFeature denotes diabetes mellitus D003920
T9 1358-1367 DiseaseOrPhenotypicFeature denotes cirrhosis D005355
T8 1326-1339 DiseaseOrPhenotypicFeature denotes iron overload D019190
T7 1263-1280 DiseaseOrPhenotypicFeature denotes diabetes mellitus D003920
T23640 1159-1168 DiseaseOrPhenotypicFeature denotes cirrhotic DISEASE
T5 1105-1120 DiseaseOrPhenotypicFeature denotes hemochromatosis D006432
T4 580-595 DiseaseOrPhenotypicFeature denotes hemochromatosis D006432
T97309 482-497 DiseaseOrPhenotypicFeature denotes hemochromatosis D006432
T52898 246-261 DiseaseOrPhenotypicFeature denotes hemochromatosis D006432
T55300 99-114 DiseaseOrPhenotypicFeature denotes hemochromatosis D006432
T99738 1518-1526 OrganismTaxon denotes patients
T72565 1286-1293 OrganismTaxon denotes patient
T6192 1022-1029 OrganismTaxon denotes patient
T82401 998-1005 OrganismTaxon denotes patient
T56613 931-939 OrganismTaxon denotes patients
T30199 545-553 OrganismTaxon denotes patients
T50389 510-518 OrganismTaxon denotes patients
T40430 339-347 OrganismTaxon denotes patients
T25154 274-282 OrganismTaxon denotes patients
T51052 85-93 OrganismTaxon denotes patients
T14 1309-1314 SequenceVariant denotes V561X
T24456 1060-1065 SequenceVariant denotes I238M
T56720 1050-1055 SequenceVariant denotes L490R
T1932 1011-1016 SequenceVariant denotes L490R
T92726 968-973 SequenceVariant denotes I238M
T86165 960-964 SequenceVariant denotes 714C
T23684 907-912 SequenceVariant denotes V561X
T35022 897-905 SequenceVariant denotes 1665delC
T86180 886-891 SequenceVariant denotes L490R
T91771 876-881 SequenceVariant denotes 1469T
T56457 384-399 SequenceVariant denotes deletion of the
T25728 169-174 SequenceVariant denotes C282Y
T21389 31-36 SequenceVariant denotes V561X
T25393 21-26 SequenceVariant denotes L490R

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
15749661-1#26#31#geners1800562 169-174 geners1800562 denotes C282Y
15749661-1#103#118#diseaseC0018995 246-261 diseaseC0018995 denotes hemochromatosis
15749661-1#103#118#diseaseC3469186 246-261 diseaseC3469186 denotes hemochromatosis
15749661-10#32#37#geners80338886 1050-1055 geners80338886 denotes L490R
15749661-10#42#47#geners34242818 1060-1065 geners34242818 denotes I238M
15749661-10#87#102#diseaseC0018995 1105-1120 diseaseC0018995 denotes hemochromatosis
15749661-10#87#102#diseaseC3469186 1105-1120 diseaseC3469186 denotes hemochromatosis
15749661-10#87#102#diseaseC0018995 1105-1120 diseaseC0018995 denotes hemochromatosis
15749661-10#87#102#diseaseC3469186 1105-1120 diseaseC3469186 denotes hemochromatosis
26#31#geners1800562103#118#diseaseC0018995 15749661-1#26#31#geners1800562 15749661-1#103#118#diseaseC0018995 associated_with C282Y,hemochromatosis
26#31#geners1800562103#118#diseaseC3469186 15749661-1#26#31#geners1800562 15749661-1#103#118#diseaseC3469186 associated_with C282Y,hemochromatosis
32#37#geners8033888687#102#diseaseC0018995 15749661-10#32#37#geners80338886 15749661-10#87#102#diseaseC0018995 associated_with L490R,hemochromatosis
32#37#geners8033888687#102#diseaseC3469186 15749661-10#32#37#geners80338886 15749661-10#87#102#diseaseC3469186 associated_with L490R,hemochromatosis
32#37#geners8033888687#102#diseaseC0018995 15749661-10#32#37#geners80338886 15749661-10#87#102#diseaseC0018995 associated_with L490R,hemochromatosis
32#37#geners8033888687#102#diseaseC3469186 15749661-10#32#37#geners80338886 15749661-10#87#102#diseaseC3469186 associated_with L490R,hemochromatosis
42#47#geners3424281887#102#diseaseC0018995 15749661-10#42#47#geners34242818 15749661-10#87#102#diseaseC0018995 associated_with I238M,hemochromatosis
42#47#geners3424281887#102#diseaseC3469186 15749661-10#42#47#geners34242818 15749661-10#87#102#diseaseC3469186 associated_with I238M,hemochromatosis
42#47#geners3424281887#102#diseaseC0018995 15749661-10#42#47#geners34242818 15749661-10#87#102#diseaseC0018995 associated_with I238M,hemochromatosis
42#47#geners3424281887#102#diseaseC3469186 15749661-10#42#47#geners34242818 15749661-10#87#102#diseaseC3469186 associated_with I238M,hemochromatosis

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
15749661-0#45#67#gene7036 45-67 gene7036 denotes transferrin receptor 2
15749661-0#99#114#diseaseC0018995 99-114 diseaseC0018995 denotes hemochromatosis
15749661-0#99#114#diseaseC3469186 99-114 diseaseC3469186 denotes hemochromatosis
15749661-1#48#51#gene3077 191-194 gene3077 denotes HFE
15749661-1#103#118#diseaseC0018995 246-261 diseaseC0018995 denotes hemochromatosis
15749661-1#103#118#diseaseC3469186 246-261 diseaseC3469186 denotes hemochromatosis
45#67#gene703699#114#diseaseC0018995 15749661-0#45#67#gene7036 15749661-0#99#114#diseaseC0018995 associated_with transferrin receptor 2,hemochromatosis
45#67#gene703699#114#diseaseC3469186 15749661-0#45#67#gene7036 15749661-0#99#114#diseaseC3469186 associated_with transferrin receptor 2,hemochromatosis
48#51#gene3077103#118#diseaseC0018995 15749661-1#48#51#gene3077 15749661-1#103#118#diseaseC0018995 associated_with HFE,hemochromatosis
48#51#gene3077103#118#diseaseC3469186 15749661-1#48#51#gene3077 15749661-1#103#118#diseaseC3469186 associated_with HFE,hemochromatosis

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 21-26 ProteinMutation:p|SUB|L|490|R denotes L490R
T2 31-36 ProteinMutation:p|SUB|V|561|X denotes V561X
T3 169-174 ProteinMutation:p|SUB|C|282|Y denotes C282Y
T4 876-884 DNAMutation:c|SUB|T|1469|G denotes 1469T->G
T5 886-891 ProteinMutation:p|SUB|L|490|R denotes L490R
T6 897-905 DNAMutation:c|DEL|1665|C denotes 1665delC
T7 907-912 ProteinMutation:p|SUB|V|561|X denotes V561X
T8 968-973 ProteinMutation:p|SUB|I|238|M denotes I238M
T9 1011-1016 ProteinMutation:p|SUB|L|490|R denotes L490R
T10 1050-1055 ProteinMutation:p|SUB|L|490|R denotes L490R
T11 1060-1065 ProteinMutation:p|SUB|I|238|M denotes I238M
T12 1309-1314 ProteinMutation:p|SUB|V|561|X denotes V561X

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1612-1616 gene:7036 denotes TfR2
T1 1653-1668 disease:C0018995 denotes hemochromatosis
R1 T0 T1 associated_with TfR2,hemochromatosis