PubMed:19208385
Annnotations
LitCoin-sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-127 | Sentence | denotes | Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. |
| T2 | 128-233 | Sentence | denotes | Osteogenesis imperfecta (OI) is a heritable bone disorder characterized by fractures with minimal trauma. |
| T3 | 234-309 | Sentence | denotes | Intracranial hemorrhage has been reported in a small number of OI patients. |
| T4 | 310-509 | Sentence | denotes | Here we describe three patients, a boy (aged 15 years) and two girls (aged 17 and 7 years) with OI type III who suffered intracranial hemorrhage and in addition had brachydactyly and nail hypoplasia. |
| T5 | 510-722 | Sentence | denotes | In all of these patients, OI was caused by glycine mutations affecting exon 49 of the COL1A2 gene, which codes for the most carboxy-terminal part of the triple-helical domain of the collagen type I alpha 2 chain. |
| T6 | 723-890 | Sentence | denotes | These observations suggest that mutations in this region of the collagen type I alpha 2 chain carry a high risk of abnormal limb development and intracranial bleeding. |
LitCoin-entities
| Id | Subject | Object | Predicate | Lexical cue | db_id |
|---|---|---|---|---|---|
| 5776 | 0-32 | DiseaseOrPhenotypicFeature | denotes | Osteogenesis imperfecta type III | MESH:C536044 |
| 5777 | 38-61 | DiseaseOrPhenotypicFeature | denotes | intracranial hemorrhage | MESH:D020300 |
| 5778 | 66-79 | DiseaseOrPhenotypicFeature | denotes | brachydactyly | MESH:D059327 |
| 5779 | 120-126 | GeneOrGeneProduct | denotes | COL1A2 | NCBIGene:1278 |
| 5780 | 128-151 | DiseaseOrPhenotypicFeature | denotes | Osteogenesis imperfecta | MESH:D010013 |
| 5781 | 153-155 | DiseaseOrPhenotypicFeature | denotes | OI | MESH:D010013 |
| 5782 | 172-185 | DiseaseOrPhenotypicFeature | denotes | bone disorder | MESH:D001847 |
| 5783 | 203-212 | DiseaseOrPhenotypicFeature | denotes | fractures | MESH:D050723 |
| 5784 | 226-232 | DiseaseOrPhenotypicFeature | denotes | trauma | MESH:D014947 |
| 5785 | 234-257 | DiseaseOrPhenotypicFeature | denotes | Intracranial hemorrhage | MESH:D020300 |
| 5786 | 297-299 | DiseaseOrPhenotypicFeature | denotes | OI | MESH:D010013 |
| 5787 | 300-308 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
| 5788 | 333-341 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
| 5789 | 406-417 | DiseaseOrPhenotypicFeature | denotes | OI type III | MESH:C536044 |
| 5790 | 431-454 | DiseaseOrPhenotypicFeature | denotes | intracranial hemorrhage | MESH:D020300 |
| 5791 | 475-488 | DiseaseOrPhenotypicFeature | denotes | brachydactyly | MESH:D059327 |
| 5792 | 493-508 | DiseaseOrPhenotypicFeature | denotes | nail hypoplasia | MESH:D009260 |
| 5793 | 526-534 | OrganismTaxon | denotes | patients | NCBITaxon:9606 |
| 5794 | 536-538 | DiseaseOrPhenotypicFeature | denotes | OI | MESH:D010013 |
| 5795 | 596-602 | GeneOrGeneProduct | denotes | COL1A2 | NCBIGene:1278 |
| 5796 | 692-715 | GeneOrGeneProduct | denotes | collagen type I alpha 2 | NCBIGene:1278 |
| 5797 | 787-810 | GeneOrGeneProduct | denotes | collagen type I alpha 2 | NCBIGene:1278 |
| 5798 | 838-863 | DiseaseOrPhenotypicFeature | denotes | abnormal limb development | MESH:D009140 |
| 5799 | 868-889 | DiseaseOrPhenotypicFeature | denotes | intracranial bleeding | MESH:D020300 |
LitCoin_Mondo
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 0-23 | DiseaseOrPhenotypicFeature | denotes | Osteogenesis imperfecta | 0019019 |
| T2 | 38-61 | DiseaseOrPhenotypicFeature | denotes | intracranial hemorrhage | 0005049 |
| T3 | 66-79 | DiseaseOrPhenotypicFeature | denotes | brachydactyly | 0021004 |
| T4 | 128-151 | DiseaseOrPhenotypicFeature | denotes | Osteogenesis imperfecta | 0019019 |
| T5 | 234-257 | DiseaseOrPhenotypicFeature | denotes | Intracranial hemorrhage | 0005049 |
| T6 | 431-454 | DiseaseOrPhenotypicFeature | denotes | intracranial hemorrhage | 0005049 |
| T7 | 475-488 | DiseaseOrPhenotypicFeature | denotes | brachydactyly | 0021004 |
LitCoin-GeneOrGeneProduct-v0
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 29-32 | GeneOrGeneProduct | denotes | III |
| T2 | 96-105 | GeneOrGeneProduct | denotes | mutations |
| T3 | 120-126 | GeneOrGeneProduct | denotes | COL1A2 |
| T4 | 172-176 | GeneOrGeneProduct | denotes | bone |
| T5 | 276-280 | GeneOrGeneProduct | denotes | in a |
| T6 | 281-286 | GeneOrGeneProduct | denotes | small |
| T7 | 358-363 | GeneOrGeneProduct | denotes | years |
| T8 | 394-399 | GeneOrGeneProduct | denotes | years |
| T9 | 414-417 | GeneOrGeneProduct | denotes | III |
| T10 | 493-497 | GeneOrGeneProduct | denotes | nail |
| T11 | 513-516 | GeneOrGeneProduct | denotes | all |
| T12 | 561-570 | GeneOrGeneProduct | denotes | mutations |
| T13 | 596-602 | GeneOrGeneProduct | denotes | COL1A2 |
| T14 | 651-655 | GeneOrGeneProduct | denotes | part |
| T15 | 692-721 | GeneOrGeneProduct | denotes | collagen type I alpha 2 chain |
| T16 | 750-764 | GeneOrGeneProduct | denotes | that mutations |
| T17 | 787-816 | GeneOrGeneProduct | denotes | collagen type I alpha 2 chain |
| T18 | 825-829 | GeneOrGeneProduct | denotes | high |
| T19 | 847-851 | GeneOrGeneProduct | denotes | limb |
LitCoin-GeneOrGeneProduct-v2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 120-126 | GeneOrGeneProduct | denotes | COL1A2 |
| T2 | 281-286 | GeneOrGeneProduct | denotes | small |
| T3 | 596-602 | GeneOrGeneProduct | denotes | COL1A2 |
| T4 | 692-721 | GeneOrGeneProduct | denotes | collagen type I alpha 2 chain |
| T5 | 787-816 | GeneOrGeneProduct | denotes | collagen type I alpha 2 chain |
| T6 | 825-829 | GeneOrGeneProduct | denotes | high |
LitCoin-Disease-MeSH
| Id | Subject | Object | Predicate | Lexical cue | originalLabel |
|---|---|---|---|---|---|
| T1 | 0-32 | DiseaseOrPhenotypicFeature | denotes | Osteogenesis imperfecta type III | C536044 |
| T2 | 38-61 | DiseaseOrPhenotypicFeature | denotes | intracranial hemorrhage | D020300 |
| T3 | 66-79 | DiseaseOrPhenotypicFeature | denotes | brachydactyly | D059327 |
| T4 | 128-151 | DiseaseOrPhenotypicFeature | denotes | Osteogenesis imperfecta | D010013 |
| T5 | 153-155 | DiseaseOrPhenotypicFeature | denotes | OI | D010013 |
| T6 | 203-212 | DiseaseOrPhenotypicFeature | denotes | fractures | DISEASE |
| T7 | 226-232 | DiseaseOrPhenotypicFeature | denotes | trauma | D014947 |
| T8 | 234-257 | DiseaseOrPhenotypicFeature | denotes | Intracranial hemorrhage | D020300 |
| T9 | 297-299 | DiseaseOrPhenotypicFeature | denotes | OI | D010013 |
| T10 | 406-408 | DiseaseOrPhenotypicFeature | denotes | OI | D010013 |
| T11 | 431-454 | DiseaseOrPhenotypicFeature | denotes | intracranial hemorrhage | D020300 |
| T12 | 475-488 | DiseaseOrPhenotypicFeature | denotes | brachydactyly | D059327 |
| T13 | 536-538 | DiseaseOrPhenotypicFeature | denotes | OI | D010013 |
| T14 | 881-889 | DiseaseOrPhenotypicFeature | denotes | bleeding | D006470 |
LitCoin-GeneOrGeneProduct-v3
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 120-126 | GeneOrGeneProduct | denotes | COL1A2 |
| T2 | 596-602 | GeneOrGeneProduct | denotes | COL1A2 |
| T3 | 692-721 | GeneOrGeneProduct | denotes | collagen type I alpha 2 chain |
| T4 | 787-816 | GeneOrGeneProduct | denotes | collagen type I alpha 2 chain |
LitCoin_Mondo_095
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 0-32 | DiseaseOrPhenotypicFeature | denotes | Osteogenesis imperfecta type III | 0009804 |
| T2 | 38-61 | DiseaseOrPhenotypicFeature | denotes | intracranial hemorrhage | 0005049 |
| T3 | 66-79 | DiseaseOrPhenotypicFeature | denotes | brachydactyly | 0021004|0017424 |
| T5 | 128-151 | DiseaseOrPhenotypicFeature | denotes | Osteogenesis imperfecta | 0019019 |
| T6 | 153-155 | DiseaseOrPhenotypicFeature | denotes | OI | 0019019 |
| T7 | 226-232 | DiseaseOrPhenotypicFeature | denotes | trauma | 0021178 |
| T8 | 234-257 | DiseaseOrPhenotypicFeature | denotes | Intracranial hemorrhage | 0005049 |
| T9 | 297-299 | DiseaseOrPhenotypicFeature | denotes | OI | 0019019 |
| T10 | 406-417 | DiseaseOrPhenotypicFeature | denotes | OI type III | 0009804 |
| T11 | 406-408 | DiseaseOrPhenotypicFeature | denotes | OI | 0019019 |
| T12 | 431-454 | DiseaseOrPhenotypicFeature | denotes | intracranial hemorrhage | 0005049 |
| T13 | 475-488 | DiseaseOrPhenotypicFeature | denotes | brachydactyly | 0021004|0017424 |
| T15 | 536-538 | DiseaseOrPhenotypicFeature | denotes | OI | 0019019 |
LitCoin-MeSH-Disease-2
| Id | Subject | Object | Predicate | Lexical cue | ID: |
|---|---|---|---|---|---|
| T1 | 0-32 | DiseaseOrPhenotypicFeature | denotes | Osteogenesis imperfecta type III | C536044 |
| T2 | 38-61 | DiseaseOrPhenotypicFeature | denotes | intracranial hemorrhage | D020300 |
| T3 | 66-79 | DiseaseOrPhenotypicFeature | denotes | brachydactyly | D059327 |
| T4 | 128-151 | DiseaseOrPhenotypicFeature | denotes | Osteogenesis imperfecta | D010013 |
| T5 | 153-155 | DiseaseOrPhenotypicFeature | denotes | OI | D010013 |
| T6 | 172-185 | DiseaseOrPhenotypicFeature | denotes | bone disorder | DISEASE |
| T7 | 203-212 | DiseaseOrPhenotypicFeature | denotes | fractures | DISEASE |
| T8 | 226-232 | DiseaseOrPhenotypicFeature | denotes | trauma | D014947 |
| T9 | 234-257 | DiseaseOrPhenotypicFeature | denotes | Intracranial hemorrhage | D020300 |
| T10 | 297-299 | DiseaseOrPhenotypicFeature | denotes | OI | D010013 |
| T11 | 406-408 | DiseaseOrPhenotypicFeature | denotes | OI | D010013 |
| T12 | 431-454 | DiseaseOrPhenotypicFeature | denotes | intracranial hemorrhage | D020300 |
| T13 | 475-488 | DiseaseOrPhenotypicFeature | denotes | brachydactyly | D059327 |
| T14 | 493-508 | DiseaseOrPhenotypicFeature | denotes | nail hypoplasia | DISEASE |
| T15 | 536-538 | DiseaseOrPhenotypicFeature | denotes | OI | D010013 |
| T16 | 838-863 | DiseaseOrPhenotypicFeature | denotes | abnormal limb development | DISEASE |
| T17 | 881-889 | DiseaseOrPhenotypicFeature | denotes | bleeding | D006470 |
LitCoin-MONDO_bioort2019
| Id | Subject | Object | Predicate | Lexical cue | #label |
|---|---|---|---|---|---|
| T1 | 0-32 | DiseaseOrPhenotypicFeature | denotes | Osteogenesis imperfecta type III | C536044 |
| T2 | 38-61 | DiseaseOrPhenotypicFeature | denotes | intracranial hemorrhage | D020300 |
| T3 | 66-79 | DiseaseOrPhenotypicFeature | denotes | brachydactyly | D059327 |
| T4 | 128-151 | DiseaseOrPhenotypicFeature | denotes | Osteogenesis imperfecta | D010013 |
| T5 | 153-155 | DiseaseOrPhenotypicFeature | denotes | OI | D010013 |
| T6 | 172-185 | DiseaseOrPhenotypicFeature | denotes | bone disorder | DISEASE |
| T7 | 203-212 | DiseaseOrPhenotypicFeature | denotes | fractures | DISEASE |
| T8 | 226-232 | DiseaseOrPhenotypicFeature | denotes | trauma | D014947 |
| T9 | 234-257 | DiseaseOrPhenotypicFeature | denotes | Intracranial hemorrhage | D020300 |
| T10 | 297-299 | DiseaseOrPhenotypicFeature | denotes | OI | D010013 |
| T11 | 406-408 | DiseaseOrPhenotypicFeature | denotes | OI | D010013 |
| T12 | 431-454 | DiseaseOrPhenotypicFeature | denotes | intracranial hemorrhage | D020300 |
| T13 | 475-488 | DiseaseOrPhenotypicFeature | denotes | brachydactyly | D059327 |
| T14 | 493-508 | DiseaseOrPhenotypicFeature | denotes | nail hypoplasia | DISEASE |
| T15 | 536-538 | DiseaseOrPhenotypicFeature | denotes | OI | D010013 |
| T16 | 838-863 | DiseaseOrPhenotypicFeature | denotes | abnormal limb development | DISEASE |
| T17 | 881-889 | DiseaseOrPhenotypicFeature | denotes | bleeding | D006470 |
LitCoin-Chemical-MeSH-CHEBI
| Id | Subject | Object | Predicate | Lexical cue | ID: |
|---|---|---|---|---|---|
| T1 | 553-560 | 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 | 634-641 | ChemicalEntity | denotes | carboxy | http://purl.obolibrary.org/obo/CHEBI_46883 |
| T5 | 692-700 | ChemicalEntity | denotes | collagen | http://purl.obolibrary.org/obo/CHEBI_3815 |
| T6 | 787-795 | ChemicalEntity | denotes | collagen | http://purl.obolibrary.org/obo/CHEBI_3815 |
LitCoin-NCBITaxon-2
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 300-308 | OrganismTaxon | denotes | patients |
| T2 | 333-341 | OrganismTaxon | denotes | patients |
| T3 | 526-534 | OrganismTaxon | denotes | patients |
LitCoin-training-merged
| Id | Subject | Object | Predicate | Lexical cue | #label | ID: |
|---|---|---|---|---|---|---|
| T6 | 787-795 | ChemicalEntity | denotes | collagen | http://purl.obolibrary.org/obo/CHEBI_3815 | |
| T5 | 692-700 | ChemicalEntity | denotes | collagen | http://purl.obolibrary.org/obo/CHEBI_3815 | |
| T4 | 634-641 | ChemicalEntity | denotes | carboxy | http://purl.obolibrary.org/obo/CHEBI_46883 | |
| T1 | 553-560 | ChemicalEntity | denotes | glycine | http://purl.obolibrary.org/obo/CHEBI_15428|http://purl.obolibrary.org/obo/CHEBI_29947|http://purl.obolibrary.org/obo/CHEBI_57305 | |
| T78675 | 787-816 | GeneOrGeneProduct | denotes | collagen type I alpha 2 chain | ||
| T3 | 692-721 | GeneOrGeneProduct | denotes | collagen type I alpha 2 chain | ||
| T2 | 596-602 | GeneOrGeneProduct | denotes | COL1A2 | ||
| T57517 | 120-126 | GeneOrGeneProduct | denotes | COL1A2 | ||
| T17 | 881-889 | DiseaseOrPhenotypicFeature | denotes | bleeding | D006470 | |
| T16 | 838-863 | DiseaseOrPhenotypicFeature | denotes | abnormal limb development | DISEASE | |
| T15 | 536-538 | DiseaseOrPhenotypicFeature | denotes | OI | D010013 | |
| T14 | 493-508 | DiseaseOrPhenotypicFeature | denotes | nail hypoplasia | DISEASE | |
| T13 | 475-488 | DiseaseOrPhenotypicFeature | denotes | brachydactyly | D059327 | |
| T12 | 431-454 | DiseaseOrPhenotypicFeature | denotes | intracranial hemorrhage | D020300 | |
| T11 | 406-408 | DiseaseOrPhenotypicFeature | denotes | OI | D010013 | |
| T10 | 297-299 | DiseaseOrPhenotypicFeature | denotes | OI | D010013 | |
| T9 | 234-257 | DiseaseOrPhenotypicFeature | denotes | Intracranial hemorrhage | D020300 | |
| T8 | 226-232 | DiseaseOrPhenotypicFeature | denotes | trauma | D014947 | |
| T7 | 203-212 | DiseaseOrPhenotypicFeature | denotes | fractures | DISEASE | |
| T47980 | 172-185 | DiseaseOrPhenotypicFeature | denotes | bone disorder | DISEASE | |
| T88966 | 153-155 | DiseaseOrPhenotypicFeature | denotes | OI | D010013 | |
| T73081 | 128-151 | DiseaseOrPhenotypicFeature | denotes | Osteogenesis imperfecta | D010013 | |
| T39072 | 66-79 | DiseaseOrPhenotypicFeature | denotes | brachydactyly | D059327 | |
| T85622 | 38-61 | DiseaseOrPhenotypicFeature | denotes | intracranial hemorrhage | D020300 | |
| T35891 | 0-32 | DiseaseOrPhenotypicFeature | denotes | Osteogenesis imperfecta type III | C536044 | |
| T12992 | 526-534 | OrganismTaxon | denotes | patients | ||
| T48265 | 333-341 | OrganismTaxon | denotes | patients | ||
| T82831 | 300-308 | OrganismTaxon | denotes | patients |
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-127 | Sentence | denotes | Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. |
| TextSentencer_T2 | 128-233 | Sentence | denotes | Osteogenesis imperfecta (OI) is a heritable bone disorder characterized by fractures with minimal trauma. |
| TextSentencer_T3 | 234-309 | Sentence | denotes | Intracranial hemorrhage has been reported in a small number of OI patients. |
| TextSentencer_T4 | 310-509 | Sentence | denotes | Here we describe three patients, a boy (aged 15 years) and two girls (aged 17 and 7 years) with OI type III who suffered intracranial hemorrhage and in addition had brachydactyly and nail hypoplasia. |
| TextSentencer_T5 | 510-722 | Sentence | denotes | In all of these patients, OI was caused by glycine mutations affecting exon 49 of the COL1A2 gene, which codes for the most carboxy-terminal part of the triple-helical domain of the collagen type I alpha 2 chain. |
| TextSentencer_T6 | 723-890 | Sentence | denotes | These observations suggest that mutations in this region of the collagen type I alpha 2 chain carry a high risk of abnormal limb development and intracranial bleeding. |
| T1 | 0-127 | Sentence | denotes | Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. |
| T2 | 128-233 | Sentence | denotes | Osteogenesis imperfecta (OI) is a heritable bone disorder characterized by fractures with minimal trauma. |
| T3 | 234-309 | Sentence | denotes | Intracranial hemorrhage has been reported in a small number of OI patients. |
| T4 | 310-509 | Sentence | denotes | Here we describe three patients, a boy (aged 15 years) and two girls (aged 17 and 7 years) with OI type III who suffered intracranial hemorrhage and in addition had brachydactyly and nail hypoplasia. |
| T5 | 510-722 | Sentence | denotes | In all of these patients, OI was caused by glycine mutations affecting exon 49 of the COL1A2 gene, which codes for the most carboxy-terminal part of the triple-helical domain of the collagen type I alpha 2 chain. |
| T6 | 723-890 | Sentence | denotes | These observations suggest that mutations in this region of the collagen type I alpha 2 chain carry a high risk of abnormal limb development and intracranial bleeding. |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 19208385-0#120#126#gene1278 | 120-126 | gene1278 | denotes | COL1A2 |
| 19208385-0#0#32#diseaseC0268362 | 0-32 | diseaseC0268362 | denotes | Osteogenesis imperfecta type III |
| 120#126#gene12780#32#diseaseC0268362 | 19208385-0#120#126#gene1278 | 19208385-0#0#32#diseaseC0268362 | associated_with | COL1A2,Osteogenesis imperfecta type III |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 38-61 | HP:0002170 | denotes | intracranial hemorrhage |
| TI2 | 66-79 | HP:0001156 | denotes | brachydactyly |
| AB1 | 234-257 | HP:0002170 | denotes | Intracranial hemorrhage |
| AB2 | 431-454 | HP:0002170 | denotes | intracranial hemorrhage |
| AB3 | 475-488 | HP:0001156 | denotes | brachydactyly |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 128-151 | ORDO:666 | denotes | Osteogenesis imperfecta |
UBERON-AE
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 493-497 | http://purl.obolibrary.org/obo/UBERON_0001705 | denotes | nail |
| PD-UBERON-AE-B_T2 | 847-851 | http://purl.obolibrary.org/obo/UBERON_0002101 | denotes | limb |
performance-test
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 847-851 | http://purl.obolibrary.org/obo/UBERON_0002101 | denotes | limb |
| PD-UBERON-AE-B_T2 | 493-497 | http://purl.obolibrary.org/obo/UBERON_0001705 | denotes | nail |