PubMed:21080147
Annnotations
PubTator4TogoVar
Id | Subject | Object | Predicate | Lexical cue | proteinmutation |
---|---|---|---|---|---|
21080147_0 | 923-960 | ProteinMutation | denotes | alanine for proline at amino acid 286 | rs1408230289 |
21080147_1 | 1263-1305 | ProteinMutation | denotes | lysine for glutamic acid at amino acid 325 | rs755981922 |
21080147_2 | 1307-1312 | ProteinMutation | denotes | E325K | rs755981922 |
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 |