
PubMed:15609295
Annnotations
LitCoin-entities
Id | Subject | Object | Predicate | Lexical cue | db_id |
---|---|---|---|---|---|
1295 | 69-77 | SequenceVariant | denotes | Asn45Ser | DBSNP:rs5030764 |
1296 | 103-118 | GeneOrGeneProduct | denotes | glycoprotein IX | NCBIGene:2815 |
1297 | 129-136 | OrganismTaxon | denotes | patient | NCBITaxon:9606 |
1298 | 142-166 | DiseaseOrPhenotypicFeature | denotes | Bernard-Soulier syndrome | MESH:D001606 |
1299 | 168-192 | DiseaseOrPhenotypicFeature | denotes | Bernard-Soulier syndrome | MESH:D001606 |
1300 | 194-197 | DiseaseOrPhenotypicFeature | denotes | BSS | MESH:D001606 |
1301 | 209-236 | DiseaseOrPhenotypicFeature | denotes | inherited bleeding disorder | MESH:D025861 |
1302 | 302-327 | GeneOrGeneProduct | denotes | glycoprotein (GP) Ib/IX/V | NCBIGene:2811|NCBIGene:2814|NCBIGene:2815 |
1303 | 347-368 | GeneOrGeneProduct | denotes | von Willebrand factor | NCBIGene:7450 |
1304 | 524-527 | GeneOrGeneProduct | denotes | GPV | NCBIGene:2814 |
1305 | 543-546 | DiseaseOrPhenotypicFeature | denotes | BSS | MESH:D001606 |
1306 | 615-618 | DiseaseOrPhenotypicFeature | denotes | BSS | MESH:D001606 |
1307 | 652-659 | OrganismTaxon | denotes | patient | NCBITaxon:9606 |
1308 | 730-743 | GeneOrGeneProduct | denotes | glycoproteins | NCBIGene:2811|NCBIGene:2814|NCBIGene:2815 |
1309 | 751-760 | GeneOrGeneProduct | denotes | GPIb/IX/V | NCBIGene:2814|NCBIGene:2815|NCBIGene:2811 |
1310 | 805-812 | OrganismTaxon | denotes | patient | NCBITaxon:9606 |
1311 | 868-872 | GeneOrGeneProduct | denotes | GPIX | NCBIGene:2815 |
1312 | 887-937 | SequenceVariant | denotes | nine-nucleotide deletion starting at position 1952 | c|DEL|1952|9 |
1313 | 955-1065 | SequenceVariant | denotes | changes asparagine 86 for alanine and eliminates amino acids 87, 88, and 89 (arginine, threonine, and proline) | p|SUB|NRTP|86_89|A |
1314 | 1130-1177 | SequenceVariant | denotes | asparagine (AAC) for serine (AGC) at residue 45 | DBSNP:rs5030764 |
1315 | 1215-1223 | SequenceVariant | denotes | Asn45Ser | DBSNP:rs5030764 |
1316 | 1356-1360 | GeneOrGeneProduct | denotes | GPIX | NCBIGene:2815 |
1317 | 1390-1393 | DiseaseOrPhenotypicFeature | denotes | BSS | MESH:D001606 |
1318 | 1411-1418 | OrganismTaxon | denotes | patient | NCBITaxon:9606 |
LitCoin-entities-OrganismTaxon-PD
Id | Subject | Object | Predicate | Lexical cue | db_id |
---|---|---|---|---|---|
T1 | 524-527 | OrganismTaxon | denotes | GPV | NCBItxid:38251 |
T2 | 873-880 | OrganismTaxon | denotes | gene, a | NCBItxid:695940|NCBItxid:137249 |
T4 | 1124-1129 | OrganismTaxon | denotes | codon | NCBItxid:79338 |
LitCoin-sentences
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 0-167 | Sentence | denotes | Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome. |
T2 | 168-378 | Sentence | denotes | Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor. |
T3 | 379-448 | Sentence | denotes | The complex comprises four subunits, each encoded by a separate gene. |
T4 | 449-547 | Sentence | denotes | Several mutations have been described for each of the subunits, except for GPV, as a cause of BSS. |
T5 | 548-619 | Sentence | denotes | We describe here the genetic basis of the disorder in a child with BSS. |
T6 | 620-769 | Sentence | denotes | Flow-cytometric analysis of the patient's platelets showed a markedly reduced surface expression of all three glycoproteins of the GPIb/IX/V complex. |
T7 | 770-1178 | Sentence | denotes | DNA sequencing analysis showed the patient to be a compound heterozygote for two mutations in the GPIX gene, a novel nine-nucleotide deletion starting at position 1952 of the gene that changes asparagine 86 for alanine and eliminates amino acids 87, 88, and 89 (arginine, threonine, and proline) and a previously reported point mutation that changes the codon asparagine (AAC) for serine (AGC) at residue 45. |
T8 | 1179-1283 | Sentence | denotes | Her mother was heterozygous for the Asn45Ser mutation, and her father, for the nine-nucleotide deletion. |
T9 | 1284-1419 | Sentence | denotes | Our findings suggest that the additive effects of both mutations in the GPIX gene are responsible for the BSS phenotype of the patient. |
LitCoin_Mondo
Id | Subject | Object | Predicate | Lexical cue | mondo_id |
---|---|---|---|---|---|
T1 | 142-166 | DiseaseOrPhenotypicFeature | denotes | Bernard-Soulier syndrome | 0009276 |
T2 | 168-192 | DiseaseOrPhenotypicFeature | denotes | Bernard-Soulier syndrome | 0009276 |
T3 | 204-208 | DiseaseOrPhenotypicFeature | denotes | rare | 0021136 |
T4 | 209-218 | DiseaseOrPhenotypicFeature | denotes | inherited | 0021152 |
LitCoin-SeqVar
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 69-77 | SequenceVariant | denotes | Asn45Ser |
T2 | 1215-1223 | SequenceVariant | denotes | Asn45Ser |
LitCoin-GeneOrGeneProduct-v0
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T7 | 158-166 | GeneOrGeneProduct | denotes | syndrome |
T1 | 30-35 | GeneOrGeneProduct | denotes | novel |
T2 | 36-40 | GeneOrGeneProduct | denotes | nine |
T3 | 78-86 | GeneOrGeneProduct | denotes | missense |
T4 | 87-95 | GeneOrGeneProduct | denotes | mutation |
T5 | 103-118 | GeneOrGeneProduct | denotes | glycoprotein IX |
T6 | 119-128 | GeneOrGeneProduct | denotes | gene in a |
T8 | 184-192 | GeneOrGeneProduct | denotes | syndrome |
T9 | 204-208 | GeneOrGeneProduct | denotes | rare |
T10 | 293-314 | GeneOrGeneProduct | denotes | platelet glycoprotein |
T11 | 315-322 | GeneOrGeneProduct | denotes | (GP) Ib |
T12 | 316-318 | GeneOrGeneProduct | denotes | GP |
T13 | 341-346 | GeneOrGeneProduct | denotes | major |
T14 | 347-368 | GeneOrGeneProduct | denotes | von Willebrand factor |
T15 | 369-377 | GeneOrGeneProduct | denotes | receptor |
T16 | 434-442 | GeneOrGeneProduct | denotes | separate |
T17 | 457-466 | GeneOrGeneProduct | denotes | mutations |
T18 | 577-582 | GeneOrGeneProduct | denotes | basis |
T19 | 599-603 | GeneOrGeneProduct | denotes | in a |
T20 | 681-689 | GeneOrGeneProduct | denotes | markedly |
T21 | 690-697 | GeneOrGeneProduct | denotes | reduced |
T22 | 698-705 | GeneOrGeneProduct | denotes | surface |
T23 | 720-723 | GeneOrGeneProduct | denotes | all |
T24 | 730-743 | GeneOrGeneProduct | denotes | glycoproteins |
T25 | 751-755 | GeneOrGeneProduct | denotes | GPIb |
T26 | 851-860 | GeneOrGeneProduct | denotes | mutations |
T27 | 868-872 | GeneOrGeneProduct | denotes | GPIX |
T28 | 873-880 | GeneOrGeneProduct | denotes | gene, a |
T29 | 881-886 | GeneOrGeneProduct | denotes | novel |
T30 | 887-891 | GeneOrGeneProduct | denotes | nine |
T31 | 912-920 | GeneOrGeneProduct | denotes | starting |
T32 | 981-988 | GeneOrGeneProduct | denotes | alanine |
T33 | 1004-1015 | GeneOrGeneProduct | denotes | amino acids |
T34 | 1092-1097 | GeneOrGeneProduct | denotes | point |
T35 | 1098-1111 | GeneOrGeneProduct | denotes | mutation that |
T36 | 1142-1145 | GeneOrGeneProduct | denotes | AAC |
T37 | 1179-1182 | GeneOrGeneProduct | denotes | Her |
T38 | 1224-1232 | GeneOrGeneProduct | denotes | mutation |
T39 | 1258-1262 | GeneOrGeneProduct | denotes | nine |
T40 | 1288-1296 | GeneOrGeneProduct | denotes | findings |
T41 | 1339-1348 | GeneOrGeneProduct | denotes | mutations |
T42 | 1356-1360 | GeneOrGeneProduct | denotes | GPIX |
LitCoin-GeneOrGeneProduct-v2
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 30-35 | GeneOrGeneProduct | denotes | novel |
T2 | 103-118 | GeneOrGeneProduct | denotes | glycoprotein IX |
T3 | 158-166 | GeneOrGeneProduct | denotes | syndrome |
T4 | 184-192 | GeneOrGeneProduct | denotes | syndrome |
T5 | 204-208 | GeneOrGeneProduct | denotes | rare |
T6 | 293-314 | GeneOrGeneProduct | denotes | platelet glycoprotein |
T7 | 316-318 | GeneOrGeneProduct | denotes | GP |
T8 | 341-346 | GeneOrGeneProduct | denotes | major |
T9 | 347-368 | GeneOrGeneProduct | denotes | von Willebrand factor |
T10 | 369-377 | GeneOrGeneProduct | denotes | receptor |
T11 | 690-697 | GeneOrGeneProduct | denotes | reduced |
T12 | 698-705 | GeneOrGeneProduct | denotes | surface |
T13 | 730-743 | GeneOrGeneProduct | denotes | glycoproteins |
T14 | 868-872 | GeneOrGeneProduct | denotes | GPIX |
T15 | 873-880 | GeneOrGeneProduct | denotes | gene, a |
T16 | 881-886 | GeneOrGeneProduct | denotes | novel |
T17 | 981-988 | GeneOrGeneProduct | denotes | alanine |
T18 | 1004-1015 | GeneOrGeneProduct | denotes | amino acids |
T19 | 1356-1360 | GeneOrGeneProduct | denotes | GPIX |
LitCoin-Disease-MeSH
Id | Subject | Object | Predicate | Lexical cue | originalLabel |
---|---|---|---|---|---|
T1 | 142-166 | DiseaseOrPhenotypicFeature | denotes | Bernard-Soulier syndrome | D001606 |
T2 | 168-192 | DiseaseOrPhenotypicFeature | denotes | Bernard-Soulier syndrome | D001606 |
T3 | 194-197 | DiseaseOrPhenotypicFeature | denotes | BSS | D001606 |
T4 | 219-227 | DiseaseOrPhenotypicFeature | denotes | bleeding | D006470 |
T5 | 543-546 | DiseaseOrPhenotypicFeature | denotes | BSS | D001606 |
T6 | 615-618 | DiseaseOrPhenotypicFeature | denotes | BSS | D001606 |
T7 | 1390-1393 | DiseaseOrPhenotypicFeature | denotes | BSS | D001606 |
LitCoin-GeneOrGeneProduct-v3
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 103-118 | GeneOrGeneProduct | denotes | glycoprotein IX |
T2 | 293-314 | GeneOrGeneProduct | denotes | platelet glycoprotein |
T3 | 316-318 | GeneOrGeneProduct | denotes | GP |
T4 | 347-368 | GeneOrGeneProduct | denotes | von Willebrand factor |
T5 | 730-743 | GeneOrGeneProduct | denotes | glycoproteins |
T6 | 868-872 | GeneOrGeneProduct | denotes | GPIX |
T7 | 1356-1360 | GeneOrGeneProduct | denotes | GPIX |
LitCoin_Mondo_095
Id | Subject | Object | Predicate | Lexical cue | mondo_id |
---|---|---|---|---|---|
T1 | 142-166 | DiseaseOrPhenotypicFeature | denotes | Bernard-Soulier syndrome | 0009276 |
T2 | 168-192 | DiseaseOrPhenotypicFeature | denotes | Bernard-Soulier syndrome | 0009276 |
T3 | 194-197 | DiseaseOrPhenotypicFeature | denotes | BSS | 0009276 |
T4 | 219-236 | DiseaseOrPhenotypicFeature | denotes | bleeding disorder | 0002243 |
T5 | 543-546 | DiseaseOrPhenotypicFeature | denotes | BSS | 0009276 |
T6 | 604-609 | DiseaseOrPhenotypicFeature | denotes | child | 0017015 |
T7 | 615-618 | DiseaseOrPhenotypicFeature | denotes | BSS | 0009276 |
T8 | 1390-1393 | DiseaseOrPhenotypicFeature | denotes | BSS | 0009276 |
LitCoin-MeSH-Disease-2
Id | Subject | Object | Predicate | Lexical cue | ID: |
---|---|---|---|---|---|
T1 | 142-166 | DiseaseOrPhenotypicFeature | denotes | Bernard-Soulier syndrome | D001606 |
T2 | 168-192 | DiseaseOrPhenotypicFeature | denotes | Bernard-Soulier syndrome | D001606 |
T3 | 194-197 | DiseaseOrPhenotypicFeature | denotes | BSS | D001606 |
T4 | 219-227 | DiseaseOrPhenotypicFeature | denotes | bleeding | D006470 |
T5 | 543-546 | DiseaseOrPhenotypicFeature | denotes | BSS | D001606 |
T6 | 615-618 | DiseaseOrPhenotypicFeature | denotes | BSS | D001606 |
T7 | 1390-1393 | DiseaseOrPhenotypicFeature | denotes | BSS | D001606 |
LitCoin-MONDO_bioort2019
Id | Subject | Object | Predicate | Lexical cue | #label |
---|---|---|---|---|---|
T1 | 142-166 | DiseaseOrPhenotypicFeature | denotes | Bernard-Soulier syndrome | D001606 |
T2 | 168-192 | DiseaseOrPhenotypicFeature | denotes | Bernard-Soulier syndrome | D001606 |
T3 | 194-197 | DiseaseOrPhenotypicFeature | denotes | BSS | D001606 |
T4 | 219-227 | DiseaseOrPhenotypicFeature | denotes | bleeding | D006470 |
T5 | 543-546 | DiseaseOrPhenotypicFeature | denotes | BSS | D001606 |
T6 | 615-618 | DiseaseOrPhenotypicFeature | denotes | BSS | D001606 |
T7 | 1390-1393 | DiseaseOrPhenotypicFeature | denotes | BSS | D001606 |
LitCoin-Chemical-MeSH-CHEBI
Id | Subject | Object | Predicate | Lexical cue | ID: |
---|---|---|---|---|---|
T1 | 963-973 | ChemicalEntity | denotes | asparagine | http://purl.obolibrary.org/obo/CHEBI_22653 |
T2 | 981-988 | ChemicalEntity | denotes | alanine | http://purl.obolibrary.org/obo/CHEBI_16449 |
T3 | 1032-1040 | ChemicalEntity | denotes | arginine | http://purl.obolibrary.org/obo/CHEBI_32696|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_16467 |
T6 | 1042-1051 | ChemicalEntity | denotes | threonine | http://purl.obolibrary.org/obo/CHEBI_26986 |
T7 | 1057-1064 | ChemicalEntity | denotes | proline | http://purl.obolibrary.org/obo/CHEBI_26271|http://purl.obolibrary.org/obo/CHEBI_17203 |
T9 | 1130-1140 | ChemicalEntity | denotes | asparagine | http://purl.obolibrary.org/obo/CHEBI_22653 |
T10 | 1151-1157 | ChemicalEntity | denotes | serine | http://purl.obolibrary.org/obo/CHEBI_17822 |
LitCoin-NCBITaxon-2
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 129-136 | OrganismTaxon | denotes | patient |
T2 | 524-527 | OrganismTaxon | denotes | GPV |
T3 | 805-812 | OrganismTaxon | denotes | patient |
T4 | 873-880 | OrganismTaxon | denotes | gene, a |
T5 | 1411-1418 | OrganismTaxon | denotes | patient |
LitCoin-training-merged
Id | Subject | Object | Predicate | Lexical cue | #label | ID: |
---|---|---|---|---|---|---|
T10 | 1151-1157 | ChemicalEntity | denotes | serine | http://purl.obolibrary.org/obo/CHEBI_17822 | |
T9 | 1130-1140 | ChemicalEntity | denotes | asparagine | http://purl.obolibrary.org/obo/CHEBI_22653 | |
T7 | 1057-1064 | ChemicalEntity | denotes | proline | http://purl.obolibrary.org/obo/CHEBI_17203|http://purl.obolibrary.org/obo/CHEBI_26271 | |
T6 | 1042-1051 | ChemicalEntity | denotes | threonine | http://purl.obolibrary.org/obo/CHEBI_26986 | |
T3 | 1032-1040 | ChemicalEntity | denotes | arginine | http://purl.obolibrary.org/obo/CHEBI_16467|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_32696 | |
T2 | 981-988 | ChemicalEntity | denotes | alanine | http://purl.obolibrary.org/obo/CHEBI_16449 | |
T1 | 963-973 | ChemicalEntity | denotes | asparagine | http://purl.obolibrary.org/obo/CHEBI_22653 | |
T1703 | 1356-1360 | GeneOrGeneProduct | denotes | GPIX | ||
T13732 | 868-872 | GeneOrGeneProduct | denotes | GPIX | ||
T5 | 730-743 | GeneOrGeneProduct | denotes | glycoproteins | ||
T4 | 347-368 | GeneOrGeneProduct | denotes | von Willebrand factor | ||
T64828 | 316-318 | GeneOrGeneProduct | denotes | GP | ||
T85033 | 293-314 | GeneOrGeneProduct | denotes | platelet glycoprotein | ||
T10895 | 103-118 | GeneOrGeneProduct | denotes | glycoprotein IX | ||
T31583 | 1390-1393 | DiseaseOrPhenotypicFeature | denotes | BSS | D001606 | |
T4698 | 615-618 | DiseaseOrPhenotypicFeature | denotes | BSS | D001606 | |
T23055 | 543-546 | DiseaseOrPhenotypicFeature | denotes | BSS | D001606 | |
T93671 | 219-227 | DiseaseOrPhenotypicFeature | denotes | bleeding | D006470 | |
T9580 | 194-197 | DiseaseOrPhenotypicFeature | denotes | BSS | D001606 | |
T73250 | 168-192 | DiseaseOrPhenotypicFeature | denotes | Bernard-Soulier syndrome | D001606 | |
T97857 | 142-166 | DiseaseOrPhenotypicFeature | denotes | Bernard-Soulier syndrome | D001606 | |
T49448 | 1411-1418 | OrganismTaxon | denotes | patient | ||
T40043 | 873-880 | OrganismTaxon | denotes | gene, a | ||
T26416 | 805-812 | OrganismTaxon | denotes | patient | ||
T48347 | 524-527 | OrganismTaxon | denotes | GPV | ||
T97299 | 129-136 | OrganismTaxon | denotes | patient | ||
T11172 | 1215-1223 | SequenceVariant | denotes | Asn45Ser | ||
T24351 | 69-77 | SequenceVariant | denotes | Asn45Ser |
sentences
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
TextSentencer_T1 | 0-167 | Sentence | denotes | Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome. |
TextSentencer_T2 | 168-378 | Sentence | denotes | Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor. |
TextSentencer_T3 | 379-448 | Sentence | denotes | The complex comprises four subunits, each encoded by a separate gene. |
TextSentencer_T4 | 449-547 | Sentence | denotes | Several mutations have been described for each of the subunits, except for GPV, as a cause of BSS. |
TextSentencer_T5 | 548-619 | Sentence | denotes | We describe here the genetic basis of the disorder in a child with BSS. |
TextSentencer_T6 | 620-769 | Sentence | denotes | Flow-cytometric analysis of the patient's platelets showed a markedly reduced surface expression of all three glycoproteins of the GPIb/IX/V complex. |
TextSentencer_T7 | 770-1178 | Sentence | denotes | DNA sequencing analysis showed the patient to be a compound heterozygote for two mutations in the GPIX gene, a novel nine-nucleotide deletion starting at position 1952 of the gene that changes asparagine 86 for alanine and eliminates amino acids 87, 88, and 89 (arginine, threonine, and proline) and a previously reported point mutation that changes the codon asparagine (AAC) for serine (AGC) at residue 45. |
TextSentencer_T8 | 1179-1283 | Sentence | denotes | Her mother was heterozygous for the Asn45Ser mutation, and her father, for the nine-nucleotide deletion. |
TextSentencer_T9 | 1284-1419 | Sentence | denotes | Our findings suggest that the additive effects of both mutations in the GPIX gene are responsible for the BSS phenotype of the patient. |
T1 | 0-167 | Sentence | denotes | Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome. |
T2 | 168-378 | Sentence | denotes | Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor. |
T3 | 379-448 | Sentence | denotes | The complex comprises four subunits, each encoded by a separate gene. |
T4 | 449-547 | Sentence | denotes | Several mutations have been described for each of the subunits, except for GPV, as a cause of BSS. |
T5 | 548-619 | Sentence | denotes | We describe here the genetic basis of the disorder in a child with BSS. |
T6 | 620-769 | Sentence | denotes | Flow-cytometric analysis of the patient's platelets showed a markedly reduced surface expression of all three glycoproteins of the GPIb/IX/V complex. |
T7 | 770-1178 | Sentence | denotes | DNA sequencing analysis showed the patient to be a compound heterozygote for two mutations in the GPIX gene, a novel nine-nucleotide deletion starting at position 1952 of the gene that changes asparagine 86 for alanine and eliminates amino acids 87, 88, and 89 (arginine, threonine, and proline) and a previously reported point mutation that changes the codon asparagine (AAC) for serine (AGC) at residue 45. |
T8 | 1179-1283 | Sentence | denotes | Her mother was heterozygous for the Asn45Ser mutation, and her father, for the nine-nucleotide deletion. |
T9 | 1284-1419 | Sentence | denotes | Our findings suggest that the additive effects of both mutations in the GPIX gene are responsible for the BSS phenotype of the patient. |
DisGeNET5_variant_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
15609295-0#69#77#geners369980915 | 69-77 | geners369980915 | denotes | Asn45Ser |
15609295-0#142#166#diseaseC0005129 | 142-166 | diseaseC0005129 | denotes | Bernard-Soulier syndrome |
69#77#geners369980915142#166#diseaseC0005129 | 15609295-0#69#77#geners369980915 | 15609295-0#142#166#diseaseC0005129 | associated_with | Asn45Ser,Bernard-Soulier syndrome |
DisGeNET5_gene_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
15609295-0#103#118#gene2815 | 103-118 | gene2815 | denotes | glycoprotein IX |
15609295-0#142#166#diseaseC0005129 | 142-166 | diseaseC0005129 | denotes | Bernard-Soulier syndrome |
15609295-1#152#157#gene653247 | 320-325 | gene653247 | denotes | Ib/IX |
15609295-1#179#200#gene7450 | 347-368 | gene7450 | denotes | von Willebrand factor |
15609295-1#0#24#diseaseC0005129 | 168-192 | diseaseC0005129 | denotes | Bernard-Soulier syndrome |
15609295-1#26#29#diseaseC0005129 | 194-197 | diseaseC0005129 | denotes | BSS |
15609295-1#51#68#diseaseC0005779 | 219-236 | diseaseC0005779 | denotes | bleeding disorder |
15609295-1#0#24#diseaseC0005129 | 168-192 | diseaseC0005129 | denotes | Bernard-Soulier syndrome |
15609295-1#26#29#diseaseC0005129 | 194-197 | diseaseC0005129 | denotes | BSS |
15609295-3#75#78#gene2814 | 524-527 | gene2814 | denotes | GPV |
15609295-3#94#97#diseaseC0005129 | 543-546 | diseaseC0005129 | denotes | BSS |
103#118#gene2815142#166#diseaseC0005129 | 15609295-0#103#118#gene2815 | 15609295-0#142#166#diseaseC0005129 | associated_with | glycoprotein IX,Bernard-Soulier syndrome |
152#157#gene6532470#24#diseaseC0005129 | 15609295-1#152#157#gene653247 | 15609295-1#0#24#diseaseC0005129 | associated_with | Ib/IX,Bernard-Soulier syndrome |
152#157#gene65324726#29#diseaseC0005129 | 15609295-1#152#157#gene653247 | 15609295-1#26#29#diseaseC0005129 | associated_with | Ib/IX,BSS |
152#157#gene65324751#68#diseaseC0005779 | 15609295-1#152#157#gene653247 | 15609295-1#51#68#diseaseC0005779 | associated_with | Ib/IX,bleeding disorder |
152#157#gene6532470#24#diseaseC0005129 | 15609295-1#152#157#gene653247 | 15609295-1#0#24#diseaseC0005129 | associated_with | Ib/IX,Bernard-Soulier syndrome |
152#157#gene65324726#29#diseaseC0005129 | 15609295-1#152#157#gene653247 | 15609295-1#26#29#diseaseC0005129 | associated_with | Ib/IX,BSS |
179#200#gene74500#24#diseaseC0005129 | 15609295-1#179#200#gene7450 | 15609295-1#0#24#diseaseC0005129 | associated_with | von Willebrand factor,Bernard-Soulier syndrome |
179#200#gene745026#29#diseaseC0005129 | 15609295-1#179#200#gene7450 | 15609295-1#26#29#diseaseC0005129 | associated_with | von Willebrand factor,BSS |
179#200#gene745051#68#diseaseC0005779 | 15609295-1#179#200#gene7450 | 15609295-1#51#68#diseaseC0005779 | associated_with | von Willebrand factor,bleeding disorder |
179#200#gene74500#24#diseaseC0005129 | 15609295-1#179#200#gene7450 | 15609295-1#0#24#diseaseC0005129 | associated_with | von Willebrand factor,Bernard-Soulier syndrome |
179#200#gene745026#29#diseaseC0005129 | 15609295-1#179#200#gene7450 | 15609295-1#26#29#diseaseC0005129 | associated_with | von Willebrand factor,BSS |
75#78#gene281494#97#diseaseC0005129 | 15609295-3#75#78#gene2814 | 15609295-3#94#97#diseaseC0005129 | associated_with | GPV,BSS |
PubCasesORDO
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
AB1 | 168-192 | ORDO:274 | denotes | Bernard-Soulier syndrome |
TI1 | 142-166 | ORDO:274 | denotes | Bernard-Soulier syndrome |
tmVarCorpus
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 69-77 | ProteinMutation:p|SUB|N|45|S | denotes | Asn45Ser |
T2 | 1215-1223 | ProteinMutation:p|SUB|N|45|S | denotes | Asn45Ser |
DisGeNET
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T0 | 1356-1360 | gene:2815 | denotes | GPIX |
T1 | 1390-1393 | disease:C1857941 | denotes | BSS |
R1 | T0 | T1 | associated_with | GPIX,BSS |