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LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
8325 6-12 GeneOrGeneProduct denotes CRELD1 NCBIGene:78987
8326 31-39 OrganismTaxon denotes patients NCBITaxon:9606
8327 45-75 DiseaseOrPhenotypicFeature denotes atrioventricular septal defect MESH:C562831
8328 89-120 DiseaseOrPhenotypicFeature denotes Atrioventricular septal defects MESH:C562831
8329 122-127 DiseaseOrPhenotypicFeature denotes AVSDs MESH:C562831
8330 190-216 DiseaseOrPhenotypicFeature denotes autosomal dominant defects MESH:D030342
8331 248-261 DiseaseOrPhenotypicFeature denotes malformations MESH:D000013
8332 394-398 DiseaseOrPhenotypicFeature denotes AVSD MESH:C562831
8333 400-406 GeneOrGeneProduct denotes CRELD1 NCBIGene:78987
8334 469-473 DiseaseOrPhenotypicFeature denotes AVSD MESH:C562831
8335 508-516 OrganismTaxon denotes patients NCBITaxon:9606
8336 522-526 DiseaseOrPhenotypicFeature denotes AVSD MESH:C562831
8337 644-650 GeneOrGeneProduct denotes CRELD1 NCBIGene:78987
8338 779-787 OrganismTaxon denotes patients NCBITaxon:9606
8339 816-823 OrganismTaxon denotes patient NCBITaxon:9606
8340 827-877 SequenceVariant denotes C-to-G transition was identified at nucleotide 857 c|SUB|C|857|G
8341 923-960 SequenceVariant denotes alanine for proline at amino acid 286 p|SUB|A|286|P
8342 974-981 ChemicalEntity denotes calcium MESH:D002118
8343 990-993 GeneOrGeneProduct denotes EGF NCBIGene:1950
8344 1007-1014 OrganismTaxon denotes patient NCBITaxon:9606
8345 1039-1043 DiseaseOrPhenotypicFeature denotes AVSD MESH:C562831
8346 1127-1134 OrganismTaxon denotes patient NCBITaxon:9606
8347 1150-1154 DiseaseOrPhenotypicFeature denotes AVSD MESH:C562831
8348 1171-1184 DiseaseOrPhenotypicFeature denotes Down syndrome MESH:D004314
8349 1203-1211 SequenceVariant denotes c.973G>A DBSNP:rs755981922
8350 1263-1305 SequenceVariant denotes lysine for glutamic acid at amino acid 325 DBSNP:rs755981922
8351 1307-1312 SequenceVariant denotes E325K DBSNP:rs755981922
8352 1328-1335 ChemicalEntity denotes calcium MESH:D002118
8353 1344-1347 GeneOrGeneProduct denotes EGF NCBIGene:1950
8354 1379-1385 GeneOrGeneProduct denotes CRELD1 NCBIGene:78987
8355 1419-1426 ChemicalEntity denotes calcium MESH:D002118
8356 1435-1438 GeneOrGeneProduct denotes EGF NCBIGene:1950
8357 1449-1457 OrganismTaxon denotes patients NCBITaxon:9606
8358 1463-1467 DiseaseOrPhenotypicFeature denotes AVSD MESH:C562831
8359 1469-1475 GeneOrGeneProduct denotes CRELD1 NCBIGene:78987
8360 1495-1499 DiseaseOrPhenotypicFeature denotes AVSD MESH:C562831
8361 1524-1530 GeneOrGeneProduct denotes CRELD1 NCBIGene:78987
8362 1579-1591 DiseaseOrPhenotypicFeature denotes heart defect MESH:D006331

LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 407-414 OrganismTaxon denotes gene, a NCBItxid:695940|NCBItxid:137249

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-76 Sentence denotes Novel CRELD1 gene mutations in patients with atrioventricular septal defect.
T2 77-88 Sentence denotes BACKGROUND:
T3 89-262 Sentence denotes Atrioventricular septal defects (AVSDs) occur as clinical defects of several different syndromes, as autosomal dominant defects, and as sporadically occurring malformations.
T4 263-399 Sentence denotes Consequently, there is genetic heterogeneity, but until recently, little is known about the genes involving in the pathogenesis of AVSD.
T5 400-474 Sentence denotes CRELD1 gene, a novel cell adhesion molecule, is a candidate gene for AVSD.
T6 475-483 Sentence denotes METHODS:
T7 484-552 Sentence denotes This study included 133 patients with AVSD and 200 healthy controls.
T8 553-643 Sentence denotes Peripheral blood samples were collected and genomic DNA was extracted from the leukocytes.
T9 644-722 Sentence denotes CRELD1 was amplified by polymerase chain reaction (PCR) with specific primers.
T10 723-801 Sentence denotes The sequences of PCR products were compared between the patients and controls.
T11 802-810 Sentence denotes RESULTS:
T12 811-1001 Sentence denotes In a patient, a C-to-G transition was identified at nucleotide 857 in exon 8 that resulted in a substitution of alanine for proline at amino acid 286 in the first calcium-binding EGF domain.
T13 1002-1091 Sentence denotes This patient had an isolated partial AVSD and the mutation was inherited from her mother.
T14 1092-1185 Sentence denotes Another mutation was detected in a patient with a partial AVSD and evidence of Down syndrome.
T15 1186-1355 Sentence denotes The heterozygous c.973G>A transition in exon 9 resulted in a substitution of lysine for glutamic acid at amino acid 325 (E325K) in the second calcium-binding EGF domain.
T16 1356-1368 Sentence denotes CONCLUSIONS:
T17 1369-1468 Sentence denotes Two novel CRELD1 mutations were identified in the calcium-binding EGF domain in patients with AVSD.
T18 1469-1638 Sentence denotes CRELD1 is likely to be an AVSD-susceptibility gene and CRELD1 mutations may increase the risk of developing a heart defect rather than being a direct causative mutation.

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 45-75 DiseaseOrPhenotypicFeature denotes atrioventricular septal defect 0020290
T2 89-120 DiseaseOrPhenotypicFeature denotes Atrioventricular septal defects 0020290
T3 1065-1074 DiseaseOrPhenotypicFeature denotes inherited 0021152
T4 1171-1184 DiseaseOrPhenotypicFeature denotes Down syndrome 0008608

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 1203-1211 SequenceVariant denotes c.973G>A
T2 1307-1312 SequenceVariant denotes E325K

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T14 407-414 GeneOrGeneProduct denotes gene, a
T1 0-5 GeneOrGeneProduct denotes Novel
T2 6-12 GeneOrGeneProduct denotes CRELD1
T3 18-27 GeneOrGeneProduct denotes mutations
T4 69-75 GeneOrGeneProduct denotes defect
T5 113-120 GeneOrGeneProduct denotes defects
T6 122-127 GeneOrGeneProduct denotes AVSDs
T7 147-154 GeneOrGeneProduct denotes defects
T8 176-185 GeneOrGeneProduct denotes syndromes
T9 209-216 GeneOrGeneProduct denotes defects
T10 248-261 GeneOrGeneProduct denotes malformations
T11 329-335 GeneOrGeneProduct denotes little
T12 394-398 GeneOrGeneProduct denotes AVSD
T13 400-406 GeneOrGeneProduct denotes CRELD1
T15 415-420 GeneOrGeneProduct denotes novel
T16 421-443 GeneOrGeneProduct denotes cell adhesion molecule
T17 469-473 GeneOrGeneProduct denotes AVSD
T18 475-482 GeneOrGeneProduct denotes METHODS
T19 522-526 GeneOrGeneProduct denotes AVSD
T20 644-650 GeneOrGeneProduct denotes CRELD1
T21 668-678 GeneOrGeneProduct denotes polymerase
T22 679-684 GeneOrGeneProduct denotes chain
T23 744-752 GeneOrGeneProduct denotes products
T24 902-906 GeneOrGeneProduct denotes in a
T25 923-930 GeneOrGeneProduct denotes alanine
T26 946-956 GeneOrGeneProduct denotes amino acid
T27 974-989 GeneOrGeneProduct denotes calcium-binding
T28 1039-1043 GeneOrGeneProduct denotes AVSD
T29 1052-1060 GeneOrGeneProduct denotes mutation
T30 1100-1108 GeneOrGeneProduct denotes mutation
T31 1122-1126 GeneOrGeneProduct denotes in a
T32 1150-1154 GeneOrGeneProduct denotes AVSD
T50 1579-1584 GeneOrGeneProduct denotes heart
T33 1176-1184 GeneOrGeneProduct denotes syndrome
T34 1242-1246 GeneOrGeneProduct denotes in a
T35 1263-1269 GeneOrGeneProduct denotes lysine
T36 1274-1282 GeneOrGeneProduct denotes glutamic
T37 1283-1287 GeneOrGeneProduct denotes acid
T38 1291-1301 GeneOrGeneProduct denotes amino acid
T39 1328-1343 GeneOrGeneProduct denotes calcium-binding
T40 1373-1378 GeneOrGeneProduct denotes novel
T41 1379-1385 GeneOrGeneProduct denotes CRELD1
T42 1386-1395 GeneOrGeneProduct denotes mutations
T43 1419-1434 GeneOrGeneProduct denotes calcium-binding
T44 1463-1467 GeneOrGeneProduct denotes AVSD
T45 1469-1475 GeneOrGeneProduct denotes CRELD1
T46 1479-1485 GeneOrGeneProduct denotes likely
T47 1495-1499 GeneOrGeneProduct denotes AVSD
T48 1524-1530 GeneOrGeneProduct denotes CRELD1
T49 1531-1540 GeneOrGeneProduct denotes mutations
T51 1585-1591 GeneOrGeneProduct denotes defect
T52 1629-1637 GeneOrGeneProduct denotes mutation

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 0-5 GeneOrGeneProduct denotes Novel
T2 6-12 GeneOrGeneProduct denotes CRELD1
T3 176-185 GeneOrGeneProduct denotes syndromes
T4 329-335 GeneOrGeneProduct denotes little
T5 394-398 GeneOrGeneProduct denotes AVSD
T6 400-406 GeneOrGeneProduct denotes CRELD1
T7 407-414 GeneOrGeneProduct denotes gene, a
T8 415-420 GeneOrGeneProduct denotes novel
T9 421-443 GeneOrGeneProduct denotes cell adhesion molecule
T10 469-473 GeneOrGeneProduct denotes AVSD
T11 522-526 GeneOrGeneProduct denotes AVSD
T12 644-650 GeneOrGeneProduct denotes CRELD1
T13 668-678 GeneOrGeneProduct denotes polymerase
T14 679-684 GeneOrGeneProduct denotes chain
T15 923-930 GeneOrGeneProduct denotes alanine
T16 946-956 GeneOrGeneProduct denotes amino acid
T17 974-989 GeneOrGeneProduct denotes calcium-binding
T18 1039-1043 GeneOrGeneProduct denotes AVSD
T19 1150-1154 GeneOrGeneProduct denotes AVSD
T20 1176-1184 GeneOrGeneProduct denotes syndrome
T21 1263-1269 GeneOrGeneProduct denotes lysine
T22 1283-1287 GeneOrGeneProduct denotes acid
T23 1291-1301 GeneOrGeneProduct denotes amino acid
T24 1328-1343 GeneOrGeneProduct denotes calcium-binding
T25 1373-1378 GeneOrGeneProduct denotes novel
T26 1379-1385 GeneOrGeneProduct denotes CRELD1
T27 1419-1434 GeneOrGeneProduct denotes calcium-binding
T28 1463-1467 GeneOrGeneProduct denotes AVSD
T29 1469-1475 GeneOrGeneProduct denotes CRELD1
T30 1495-1499 GeneOrGeneProduct denotes AVSD
T31 1524-1530 GeneOrGeneProduct denotes CRELD1
T32 1579-1584 GeneOrGeneProduct denotes heart

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 45-75 DiseaseOrPhenotypicFeature denotes atrioventricular septal defect C562831
T2 89-120 DiseaseOrPhenotypicFeature denotes Atrioventricular septal defects C562831
T3 122-127 DiseaseOrPhenotypicFeature denotes AVSDs C562831
T4 176-185 DiseaseOrPhenotypicFeature denotes syndromes D013577
T5 394-398 DiseaseOrPhenotypicFeature denotes AVSD C562831
T6 469-473 DiseaseOrPhenotypicFeature denotes AVSD C562831
T7 522-526 DiseaseOrPhenotypicFeature denotes AVSD C562831
T8 1031-1043 DiseaseOrPhenotypicFeature denotes partial AVSD C536112
T9 1142-1154 DiseaseOrPhenotypicFeature denotes partial AVSD C536112
T10 1171-1184 DiseaseOrPhenotypicFeature denotes Down syndrome D004314
T11 1463-1467 DiseaseOrPhenotypicFeature denotes AVSD C562831
T12 1495-1499 DiseaseOrPhenotypicFeature denotes AVSD C562831

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 6-12 GeneOrGeneProduct denotes CRELD1
T2 400-406 GeneOrGeneProduct denotes CRELD1
T3 421-443 GeneOrGeneProduct denotes cell adhesion molecule
T4 644-650 GeneOrGeneProduct denotes CRELD1
T5 974-1000 GeneOrGeneProduct denotes calcium-binding EGF domain
T6 1328-1354 GeneOrGeneProduct denotes calcium-binding EGF domain
T7 1379-1385 GeneOrGeneProduct denotes CRELD1
T8 1419-1445 GeneOrGeneProduct denotes calcium-binding EGF domain
T9 1469-1475 GeneOrGeneProduct denotes CRELD1
T10 1524-1530 GeneOrGeneProduct denotes CRELD1

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 45-75 DiseaseOrPhenotypicFeature denotes atrioventricular septal defect 0020290|0011649
T3 89-120 DiseaseOrPhenotypicFeature denotes Atrioventricular septal defects 0020290|0011649
T5 122-127 DiseaseOrPhenotypicFeature denotes AVSDs 0020290
T6 176-185 DiseaseOrPhenotypicFeature denotes syndromes 0002254
T7 394-398 DiseaseOrPhenotypicFeature denotes AVSD 0020290|0011649
T9 469-473 DiseaseOrPhenotypicFeature denotes AVSD 0020290|0011649
T11 522-526 DiseaseOrPhenotypicFeature denotes AVSD 0020290|0011649
T13 1031-1043 DiseaseOrPhenotypicFeature denotes partial AVSD 0015275
T14 1142-1154 DiseaseOrPhenotypicFeature denotes partial AVSD 0015275
T15 1171-1184 DiseaseOrPhenotypicFeature denotes Down syndrome 0008608
T16 1463-1467 DiseaseOrPhenotypicFeature denotes AVSD 0020290|0011649
T18 1495-1499 DiseaseOrPhenotypicFeature denotes AVSD 0020290|0011649
T20 1579-1591 DiseaseOrPhenotypicFeature denotes heart defect 0005453

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 45-75 DiseaseOrPhenotypicFeature denotes atrioventricular septal defect C562831
T2 89-120 DiseaseOrPhenotypicFeature denotes Atrioventricular septal defects C562831
T3 122-127 DiseaseOrPhenotypicFeature denotes AVSDs C562831
T4 176-185 DiseaseOrPhenotypicFeature denotes syndromes D013577
T5 190-216 DiseaseOrPhenotypicFeature denotes autosomal dominant defects DISEASE
T6 248-261 DiseaseOrPhenotypicFeature denotes malformations DISEASE
T7 394-398 DiseaseOrPhenotypicFeature denotes AVSD C562831
T8 469-473 DiseaseOrPhenotypicFeature denotes AVSD C562831
T9 522-526 DiseaseOrPhenotypicFeature denotes AVSD C562831
T10 1031-1043 DiseaseOrPhenotypicFeature denotes partial AVSD C536112
T11 1142-1154 DiseaseOrPhenotypicFeature denotes partial AVSD C536112
T12 1171-1184 DiseaseOrPhenotypicFeature denotes Down syndrome D004314
T13 1463-1467 DiseaseOrPhenotypicFeature denotes AVSD C562831
T14 1495-1499 DiseaseOrPhenotypicFeature denotes AVSD C562831
T15 1579-1591 DiseaseOrPhenotypicFeature denotes heart defect DISEASE

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 45-75 DiseaseOrPhenotypicFeature denotes atrioventricular septal defect C562831
T2 89-120 DiseaseOrPhenotypicFeature denotes Atrioventricular septal defects C562831
T3 122-127 DiseaseOrPhenotypicFeature denotes AVSDs C562831
T4 190-216 DiseaseOrPhenotypicFeature denotes autosomal dominant defects DISEASE
T5 248-261 DiseaseOrPhenotypicFeature denotes malformations DISEASE
T6 394-398 DiseaseOrPhenotypicFeature denotes AVSD C562831
T7 469-473 DiseaseOrPhenotypicFeature denotes AVSD C562831
T8 522-526 DiseaseOrPhenotypicFeature denotes AVSD C562831
T9 1031-1043 DiseaseOrPhenotypicFeature denotes partial AVSD C536112
T10 1142-1154 DiseaseOrPhenotypicFeature denotes partial AVSD C536112
T11 1171-1184 DiseaseOrPhenotypicFeature denotes Down syndrome D004314
T12 1463-1467 DiseaseOrPhenotypicFeature denotes AVSD C562831
T13 1495-1499 DiseaseOrPhenotypicFeature denotes AVSD C562831
T14 1579-1591 DiseaseOrPhenotypicFeature denotes heart defect DISEASE

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 923-930 ChemicalEntity denotes alanine http://purl.obolibrary.org/obo/CHEBI_16449
T2 935-942 ChemicalEntity denotes proline http://purl.obolibrary.org/obo/CHEBI_26271|http://purl.obolibrary.org/obo/CHEBI_17203
T4 974-981 ChemicalEntity denotes calcium D002118|http://purl.obolibrary.org/obo/CHEBI_29320|http://purl.obolibrary.org/obo/CHEBI_22984
T7 990-993 ChemicalEntity denotes EGF http://purl.obolibrary.org/obo/CHEBI_140739
T8 1263-1269 ChemicalEntity denotes lysine http://purl.obolibrary.org/obo/CHEBI_25094|http://purl.obolibrary.org/obo/CHEBI_18019
T10 1274-1287 ChemicalEntity denotes glutamic acid http://purl.obolibrary.org/obo/CHEBI_18237|http://purl.obolibrary.org/obo/CHEBI_16015
T12 1328-1335 ChemicalEntity denotes calcium D002118|http://purl.obolibrary.org/obo/CHEBI_29320|http://purl.obolibrary.org/obo/CHEBI_22984
T15 1344-1347 ChemicalEntity denotes EGF http://purl.obolibrary.org/obo/CHEBI_140739
T16 1419-1426 ChemicalEntity denotes calcium D002118|http://purl.obolibrary.org/obo/CHEBI_29320|http://purl.obolibrary.org/obo/CHEBI_22984
T19 1435-1438 ChemicalEntity denotes EGF http://purl.obolibrary.org/obo/CHEBI_140739

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 31-39 OrganismTaxon denotes patients
T2 407-414 OrganismTaxon denotes gene, a
T3 508-516 OrganismTaxon denotes patients
T4 779-787 OrganismTaxon denotes patients
T5 816-823 OrganismTaxon denotes patient
T6 1007-1014 OrganismTaxon denotes patient
T7 1127-1134 OrganismTaxon denotes patient
T8 1449-1457 OrganismTaxon denotes patients

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T19 1435-1438 ChemicalEntity denotes EGF http://purl.obolibrary.org/obo/CHEBI_140739
T16 1419-1426 ChemicalEntity denotes calcium http://purl.obolibrary.org/obo/CHEBI_22984|http://purl.obolibrary.org/obo/CHEBI_29320|D002118
T15 1344-1347 ChemicalEntity denotes EGF http://purl.obolibrary.org/obo/CHEBI_140739
T12 1328-1335 ChemicalEntity denotes calcium http://purl.obolibrary.org/obo/CHEBI_22984|http://purl.obolibrary.org/obo/CHEBI_29320|D002118
T10 1274-1287 ChemicalEntity denotes glutamic acid http://purl.obolibrary.org/obo/CHEBI_16015|http://purl.obolibrary.org/obo/CHEBI_18237
T8 1263-1269 ChemicalEntity denotes lysine http://purl.obolibrary.org/obo/CHEBI_18019|http://purl.obolibrary.org/obo/CHEBI_25094
T7 990-993 ChemicalEntity denotes EGF http://purl.obolibrary.org/obo/CHEBI_140739
T4 974-981 ChemicalEntity denotes calcium http://purl.obolibrary.org/obo/CHEBI_22984|http://purl.obolibrary.org/obo/CHEBI_29320|D002118
T2 935-942 ChemicalEntity denotes proline http://purl.obolibrary.org/obo/CHEBI_17203|http://purl.obolibrary.org/obo/CHEBI_26271
T1 923-930 ChemicalEntity denotes alanine http://purl.obolibrary.org/obo/CHEBI_16449
T35087 1524-1530 GeneOrGeneProduct denotes CRELD1
T9 1469-1475 GeneOrGeneProduct denotes CRELD1
T26058 1419-1445 GeneOrGeneProduct denotes calcium-binding EGF domain
T27782 1379-1385 GeneOrGeneProduct denotes CRELD1
T6 1328-1354 GeneOrGeneProduct denotes calcium-binding EGF domain
T5 974-1000 GeneOrGeneProduct denotes calcium-binding EGF domain
T56247 644-650 GeneOrGeneProduct denotes CRELD1
T3 421-443 GeneOrGeneProduct denotes cell adhesion molecule
T74927 400-406 GeneOrGeneProduct denotes CRELD1
T50646 6-12 GeneOrGeneProduct denotes CRELD1
T14 1579-1591 DiseaseOrPhenotypicFeature denotes heart defect DISEASE
T13 1495-1499 DiseaseOrPhenotypicFeature denotes AVSD C562831
T9380 1463-1467 DiseaseOrPhenotypicFeature denotes AVSD C562831
T11 1171-1184 DiseaseOrPhenotypicFeature denotes Down syndrome D004314
T82469 1142-1154 DiseaseOrPhenotypicFeature denotes partial AVSD C536112
T91644 1031-1043 DiseaseOrPhenotypicFeature denotes partial AVSD C536112
T97059 522-526 DiseaseOrPhenotypicFeature denotes AVSD C562831
T63206 469-473 DiseaseOrPhenotypicFeature denotes AVSD C562831
T54612 394-398 DiseaseOrPhenotypicFeature denotes AVSD C562831
T15767 248-261 DiseaseOrPhenotypicFeature denotes malformations DISEASE
T87484 190-216 DiseaseOrPhenotypicFeature denotes autosomal dominant defects DISEASE
T83467 122-127 DiseaseOrPhenotypicFeature denotes AVSDs C562831
T39184 89-120 DiseaseOrPhenotypicFeature denotes Atrioventricular septal defects C562831
T73419 45-75 DiseaseOrPhenotypicFeature denotes atrioventricular septal defect C562831
T17735 1449-1457 OrganismTaxon denotes patients
T62308 1127-1134 OrganismTaxon denotes patient
T90596 1007-1014 OrganismTaxon denotes patient
T91512 816-823 OrganismTaxon denotes patient
T4159 779-787 OrganismTaxon denotes patients
T46863 508-516 OrganismTaxon denotes patients
T15235 407-414 OrganismTaxon denotes gene, a
T1154 31-39 OrganismTaxon denotes patients
T59736 1307-1312 SequenceVariant denotes E325K
T26840 1203-1211 SequenceVariant denotes c.973G>A

DisGeNET

Id Subject Object Predicate Lexical cue
T0 6-12 gene:78987 denotes CRELD1
T1 45-75 disease:C0344783 denotes atrioventricular septal defect
T2 6-12 gene:78987 denotes CRELD1
T3 45-75 disease:C1389016 denotes atrioventricular septal defect
T4 6-12 gene:78987 denotes CRELD1
T5 45-75 disease:C1389018 denotes atrioventricular septal defect
R1 T0 T1 associated_with CRELD1,atrioventricular septal defect
R2 T2 T3 associated_with CRELD1,atrioventricular septal defect
R3 T4 T5 associated_with CRELD1,atrioventricular septal defect

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 89-120 HP_0006695 denotes Atrioventricular septal defects
T2 106-120 HP_0001671 denotes septal defects
T3 190-208 HP_0000006 denotes autosomal dominant

Allie

Id Subject Object Predicate Lexical cue
SS1_21080147_2_0 89-120 expanded denotes Atrioventricular septal defects
SS2_21080147_2_0 122-127 abbr denotes AVSDs
SS1_21080147_8_0 668-693 expanded denotes polymerase chain reaction
SS2_21080147_8_0 695-698 abbr denotes PCR
AE1_21080147_2_0 SS1_21080147_2_0 SS2_21080147_2_0 abbreviatedTo Atrioventricular septal defects,AVSDs
AE1_21080147_8_0 SS1_21080147_8_0 SS2_21080147_8_0 abbreviatedTo polymerase chain reaction,PCR

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 1203-1211 DNAMutation:c|SUB|G|973|A denotes c.973G>A
T2 1307-1312 ProteinMutation:p|SUB|E|325|K denotes E325K