PubMed:22669887
Annnotations
LitCoin-PubTator-for-Tuning
| Id | Subject | Object | Predicate | Lexical cue | tao:has_database_id |
|---|---|---|---|---|---|
| 2 | 18-42 | DiseaseOrPhenotypicFeature | denotes | phosphorylase deficiency | MESH:D006012 |
| 3 | 56-59 | GeneOrGeneProduct | denotes | PNP | Gene:4860 |
| 14 | 136-167 | GeneOrGeneProduct | denotes | purine nucleoside phosphorylase | Gene:4860 |
| 15 | 169-172 | GeneOrGeneProduct | denotes | PNP | Gene:4860 |
| 16 | 257-267 | DiseaseOrPhenotypicFeature | denotes | infections | MESH:D007239 |
| 17 | 269-289 | DiseaseOrPhenotypicFeature | denotes | developmental delays | MESH:D002658 |
| 18 | 291-299 | DiseaseOrPhenotypicFeature | denotes | seizures | MESH:D012640 |
| 19 | 316-342 | DiseaseOrPhenotypicFeature | denotes | neurological deterioration | MESH:D019636 |
| 20 | 361-394 | DiseaseOrPhenotypicFeature | denotes | primary immunodeficiency disorder | MESH:D000081207 |
| 21 | 429-438 | DiseaseOrPhenotypicFeature | denotes | infection | MESH:D007239 |
| 22 | 458-479 | DiseaseOrPhenotypicFeature | denotes | neurological symptoms | MESH:D009422 |
| 23 | 499-502 | GeneOrGeneProduct | denotes | PNP | Gene:4860 |
LitCoin-Disease-Tuning-1
| Id | Subject | Object | Predicate | Lexical cue | ID: |
|---|---|---|---|---|---|
| T1 | 7-42 | DiseaseOrPhenotypicFeature | denotes | nucleoside phosphorylase deficiency | C562587 |
| T2 | 168-184 | DiseaseOrPhenotypicFeature | denotes | (PNP) deficiency | C562587 |
| T3 | 257-267 | DiseaseOrPhenotypicFeature | denotes | infections | D007239 |
| T4 | 269-289 | DiseaseOrPhenotypicFeature | denotes | developmental delays | DISEASE |
| T5 | 291-299 | DiseaseOrPhenotypicFeature | denotes | seizures | D012640 |
| T6 | 361-394 | DiseaseOrPhenotypicFeature | denotes | primary immunodeficiency disorder | D000081207 |
| T7 | 419-438 | DiseaseOrPhenotypicFeature | denotes | recurrent infection | D000084063 |
| T8 | 458-479 | DiseaseOrPhenotypicFeature | denotes | neurological symptoms | D009461 |
LitEisuke
| Id | Subject | Object | Predicate | Lexical cue | #label |
|---|---|---|---|---|---|
| T1 | 7-42 | DiseaseOrPhenotypicFeature | denotes | nucleoside phosphorylase deficiency | C562587 |
| T2 | 168-184 | DiseaseOrPhenotypicFeature | denotes | (PNP) deficiency | C562587 |
| T3 | 269-289 | DiseaseOrPhenotypicFeature | denotes | developmental delays | DISEASE |
| T4 | 291-299 | DiseaseOrPhenotypicFeature | denotes | seizures | D012640 |
| T5 | 361-394 | DiseaseOrPhenotypicFeature | denotes | primary immunodeficiency disorder | D000081207 |
| T6 | 419-438 | DiseaseOrPhenotypicFeature | denotes | recurrent infection | D000084063 |
| T7 | 458-479 | DiseaseOrPhenotypicFeature | denotes | neurological symptoms | D009461 |
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-106 | Sentence | denotes | Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India. |
| TextSentencer_T2 | 107-215 | Sentence | denotes | The authors report a case of purine nucleoside phosphorylase (PNP) deficiency for the first time from India. |
| TextSentencer_T3 | 216-343 | Sentence | denotes | The case presented with recurrent severe infections, developmental delays, seizures and progressive neurological deterioration. |
| TextSentencer_T4 | 344-480 | Sentence | denotes | The diagnosis of primary immunodeficiency disorder was delayed in spite of recurrent infection due to predominant neurological symptoms. |
| TextSentencer_T5 | 481-570 | Sentence | denotes | Sequencing of the PNP gene revealed a novel mutation resulting in a premature stop codon. |
| T1 | 0-106 | Sentence | denotes | Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India. |
| T2 | 107-215 | Sentence | denotes | The authors report a case of purine nucleoside phosphorylase (PNP) deficiency for the first time from India. |
| T3 | 216-343 | Sentence | denotes | The case presented with recurrent severe infections, developmental delays, seizures and progressive neurological deterioration. |
| T4 | 344-480 | Sentence | denotes | The diagnosis of primary immunodeficiency disorder was delayed in spite of recurrent infection due to predominant neurological symptoms. |
| T5 | 481-570 | Sentence | denotes | Sequencing of the PNP gene revealed a novel mutation resulting in a premature stop codon. |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 56-59 | gene:4860 | denotes | PNP |
| T1 | 0-42 | disease:C0268125 | denotes | Purine nucleoside phosphorylase deficiency |
| T2 | 56-59 | gene:5539 | denotes | PNP |
| T3 | 0-42 | disease:C0268125 | denotes | Purine nucleoside phosphorylase deficiency |
| R1 | T0 | T1 | associated_with | PNP,Purine nucleoside phosphorylase deficiency |
| R2 | T2 | T3 | associated_with | PNP,Purine nucleoside phosphorylase deficiency |
Allie
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| SS1_22669887_1_0 | 136-167 | expanded | denotes | purine nucleoside phosphorylase |
| SS2_22669887_1_0 | 169-172 | abbr | denotes | PNP |
| AE1_22669887_1_0 | SS1_22669887_1_0 | SS2_22669887_1_0 | abbreviatedTo | purine nucleoside phosphorylase,PNP |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 269-289 | HP_0001263 | denotes | developmental delays |
| T2 | 291-299 | HP_0001250 | denotes | seizures |
| T3 | 304-342 | HP_0002344 | denotes | progressive neurological deterioration |
| T4 | 316-342 | HP_0002344 | denotes | neurological deterioration |
| T5 | 369-385 | HP_0002721 | denotes | immunodeficiency |
| T6 | 419-438 | HP_0002719 | denotes | recurrent infection |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 22669887-0#56#59#gene4860 | 56-59 | gene4860 | denotes | PNP |
| 22669887-0#0#42#diseaseC0268125 | 0-42 | diseaseC0268125 | denotes | Purine nucleoside phosphorylase deficiency |
| 56#59#gene48600#42#diseaseC0268125 | 22669887-0#56#59#gene4860 | 22669887-0#0#42#diseaseC0268125 | associated_with | PNP,Purine nucleoside phosphorylase deficiency |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 291-299 | HP:0001250 | denotes | seizures |
| AB2 | 369-385 | HP:0002721 | denotes | immunodeficiency |
| AB3 | 419-438 | HP:0002719 | denotes | recurrent infection |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 0-42 | ORDO:760 | denotes | Purine nucleoside phosphorylase deficiency |
| AB1 | 169-184 | ORDO:760 | denotes | PNP) deficiency |