PubMed:17427234
Annnotations
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-113 | Sentence | denotes | Composite adrenal anaplastic neuroblastoma and virilizing adrenocortical tumor with germline TP53 R248W mutation. |
| TextSentencer_T2 | 114-150 | Sentence | denotes | Composite tumors are extremely rare. |
| TextSentencer_T3 | 151-250 | Sentence | denotes | Such tumors in adrenal glands are usually of neuroendocrine-neural type and occur mostly in adults. |
| TextSentencer_T4 | 251-286 | Sentence | denotes | Their pathogenesis remains elusive. |
| TextSentencer_T5 | 287-435 | Sentence | denotes | We report a patient with composite neuroblastoma (NB), adrenocortical tumor (ACT), and Li-Fraumeni syndrome (LFS) with germline TP53 R248W mutation. |
| TextSentencer_T6 | 436-567 | Sentence | denotes | LFS predisposes to the development of leukemia, sarcomas, adrenocortical and breast carcinomas, brain tumors and, questionably, NB. |
| TextSentencer_T7 | 568-685 | Sentence | denotes | A unique correlation between a single TP53 mutation (R337H) and ACT has been reported in southern Brazilian children. |
| TextSentencer_T8 | 686-792 | Sentence | denotes | It remains unclear at this time whether a similar association of NB and R248W in patients with LFS exists. |
| T1 | 0-113 | Sentence | denotes | Composite adrenal anaplastic neuroblastoma and virilizing adrenocortical tumor with germline TP53 R248W mutation. |
| T2 | 114-150 | Sentence | denotes | Composite tumors are extremely rare. |
| T3 | 151-250 | Sentence | denotes | Such tumors in adrenal glands are usually of neuroendocrine-neural type and occur mostly in adults. |
| T4 | 251-286 | Sentence | denotes | Their pathogenesis remains elusive. |
| T5 | 287-435 | Sentence | denotes | We report a patient with composite neuroblastoma (NB), adrenocortical tumor (ACT), and Li-Fraumeni syndrome (LFS) with germline TP53 R248W mutation. |
| T6 | 436-567 | Sentence | denotes | LFS predisposes to the development of leukemia, sarcomas, adrenocortical and breast carcinomas, brain tumors and, questionably, NB. |
| T7 | 568-685 | Sentence | denotes | A unique correlation between a single TP53 mutation (R337H) and ACT has been reported in southern Brazilian children. |
| T8 | 686-792 | Sentence | denotes | It remains unclear at this time whether a similar association of NB and R248W in patients with LFS exists. |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 93-97 | gene:7157 | denotes | TP53 |
| T1 | 29-42 | disease:C0027819 | denotes | neuroblastoma |
| T2 | 93-97 | gene:7157 | denotes | TP53 |
| T3 | 29-42 | disease:C0700095 | denotes | neuroblastoma |
| T4 | 93-97 | gene:7157 | denotes | TP53 |
| T5 | 58-78 | disease:C0001618 | denotes | adrenocortical tumor |
| T6 | 415-419 | gene:7157 | denotes | TP53 |
| T7 | 322-335 | disease:C0700095 | denotes | neuroblastoma |
| T8 | 415-419 | gene:7157 | denotes | TP53 |
| T9 | 396-399 | disease:C0085390 | denotes | LFS |
| T10 | 415-419 | gene:7157 | denotes | TP53 |
| T11 | 374-394 | disease:C0085390 | denotes | Li-Fraumeni syndrome |
| T12 | 415-419 | gene:7157 | denotes | TP53 |
| T13 | 322-335 | disease:C0027819 | denotes | neuroblastoma |
| T14 | 606-610 | gene:7157 | denotes | TP53 |
| T15 | 632-635 | disease:C0001618 | denotes | ACT |
| R1 | T0 | T1 | associated_with | TP53,neuroblastoma |
| R2 | T2 | T3 | associated_with | TP53,neuroblastoma |
| R3 | T4 | T5 | associated_with | TP53,adrenocortical tumor |
| R4 | T6 | T7 | associated_with | TP53,neuroblastoma |
| R5 | T8 | T9 | associated_with | TP53,LFS |
| R6 | T10 | T11 | associated_with | TP53,Li-Fraumeni syndrome |
| R7 | T12 | T13 | associated_with | TP53,neuroblastoma |
| R8 | T14 | T15 | associated_with | TP53,ACT |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 124-130 | HP_0002664 | denotes | tumors |
| T1 | 124-130 | HP_0002664 | denotes | tumors |
| T2 | 156-162 | HP_0002664 | denotes | tumors |
| T3 | 156-180 | HP_0100631 | denotes | tumors in adrenal glands |
| T4 | 322-335 | HP_0003006 | denotes | neuroblastoma |
| T5 | 357-362 | HP_0002664 | denotes | tumor |
| T6 | 474-482 | HP_0001909 | denotes | leukemia |
| T7 | 484-492 | HP_0100242 | denotes | sarcomas |
| T8 | 494-530 | HP_0006744 | denotes | adrenocortical and breast carcinomas |
| T9 | 513-530 | HP_0003002 | denotes | breast carcinomas |
| T10 | 538-544 | HP_0002664 | denotes | tumors |
| T2 | 156-162 | HP_0002664 | denotes | tumors |
| T3 | 156-180 | HP_0100631 | denotes | tumors in adrenal glands |
| T4 | 322-335 | HP_0003006 | denotes | neuroblastoma |
| T5 | 357-362 | HP_0002664 | denotes | tumor |
| T6 | 474-482 | HP_0001909 | denotes | leukemia |
| T7 | 484-492 | HP_0100242 | denotes | sarcomas |
| T8 | 494-530 | HP_0006744 | denotes | adrenocortical and breast carcinomas |
| T9 | 513-530 | HP_0003002 | denotes | breast carcinomas |
| T10 | 538-544 | HP_0002664 | denotes | tumors |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 17427234-0#98#103#geners121912651 | 98-103 | geners121912651 | denotes | R248W |
| 17427234-0#29#42#diseaseC0027819 | 29-42 | diseaseC0027819 | denotes | neuroblastoma |
| 17427234-0#29#42#diseaseC0700095 | 29-42 | diseaseC0700095 | denotes | neuroblastoma |
| 17427234-0#58#78#diseaseC0001618 | 58-78 | diseaseC0001618 | denotes | adrenocortical tumor |
| 17427234-4#53#58#geners121912664 | 621-626 | geners121912664 | denotes | R337H |
| 17427234-4#64#67#diseaseC0001618 | 632-635 | diseaseC0001618 | denotes | ACT |
| 17427234-5#72#77#geners121912651 | 758-763 | geners121912651 | denotes | R248W |
| 17427234-5#95#98#diseaseC0085390 | 781-784 | diseaseC0085390 | denotes | LFS |
| 98#103#geners12191265129#42#diseaseC0027819 | 17427234-0#98#103#geners121912651 | 17427234-0#29#42#diseaseC0027819 | associated_with | R248W,neuroblastoma |
| 98#103#geners12191265129#42#diseaseC0700095 | 17427234-0#98#103#geners121912651 | 17427234-0#29#42#diseaseC0700095 | associated_with | R248W,neuroblastoma |
| 98#103#geners12191265158#78#diseaseC0001618 | 17427234-0#98#103#geners121912651 | 17427234-0#58#78#diseaseC0001618 | associated_with | R248W,adrenocortical tumor |
| 53#58#geners12191266464#67#diseaseC0001618 | 17427234-4#53#58#geners121912664 | 17427234-4#64#67#diseaseC0001618 | associated_with | R337H,ACT |
| 72#77#geners12191265195#98#diseaseC0085390 | 17427234-5#72#77#geners121912651 | 17427234-5#95#98#diseaseC0085390 | associated_with | R248W,LFS |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 17427234-0#93#97#gene7157 | 93-97 | gene7157 | denotes | TP53 |
| 17427234-0#93#97#gene7157 | 93-97 | gene7157 | denotes | TP53 |
| 17427234-0#29#42#diseaseC0027819 | 29-42 | diseaseC0027819 | denotes | neuroblastoma |
| 17427234-0#29#42#diseaseC0700095 | 29-42 | diseaseC0700095 | denotes | neuroblastoma |
| 17427234-0#58#78#diseaseC0001618 | 58-78 | diseaseC0001618 | denotes | adrenocortical tumor |
| 17427234-2#128#132#gene7157 | 415-419 | gene7157 | denotes | TP53 |
| 17427234-2#87#107#diseaseC0085390 | 374-394 | diseaseC0085390 | denotes | Li-Fraumeni syndrome |
| 17427234-2#109#112#diseaseC0085390 | 396-399 | diseaseC0085390 | denotes | LFS |
| 93#97#gene715729#42#diseaseC0027819 | 17427234-0#93#97#gene7157 | 17427234-0#29#42#diseaseC0027819 | associated_with | TP53,neuroblastoma |
| 93#97#gene715729#42#diseaseC0700095 | 17427234-0#93#97#gene7157 | 17427234-0#29#42#diseaseC0700095 | associated_with | TP53,neuroblastoma |
| 93#97#gene715758#78#diseaseC0001618 | 17427234-0#93#97#gene7157 | 17427234-0#58#78#diseaseC0001618 | associated_with | TP53,adrenocortical tumor |
| 93#97#gene715729#42#diseaseC0027819 | 17427234-0#93#97#gene7157 | 17427234-0#29#42#diseaseC0027819 | associated_with | TP53,neuroblastoma |
| 93#97#gene715729#42#diseaseC0700095 | 17427234-0#93#97#gene7157 | 17427234-0#29#42#diseaseC0700095 | associated_with | TP53,neuroblastoma |
| 93#97#gene715758#78#diseaseC0001618 | 17427234-0#93#97#gene7157 | 17427234-0#58#78#diseaseC0001618 | associated_with | TP53,adrenocortical tumor |
| 128#132#gene715787#107#diseaseC0085390 | 17427234-2#128#132#gene7157 | 17427234-2#87#107#diseaseC0085390 | associated_with | TP53,Li-Fraumeni syndrome |
| 128#132#gene7157109#112#diseaseC0085390 | 17427234-2#128#132#gene7157 | 17427234-2#109#112#diseaseC0085390 | associated_with | TP53,LFS |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 29-42 | HP:0003006 | denotes | neuroblastoma |
| AB1 | 322-335 | HP:0003006 | denotes | neuroblastoma |
| AB2 | 474-482 | HP:0001909 | denotes | leukemia |
| AB3 | 484-492 | HP:0100242 | denotes | sarcomas |
| AB4 | 513-530 | HP:0003002 | denotes | breast carcinomas |
UBERON-AE
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE_T1 | 166-180 | http://purl.obolibrary.org/obo/UBERON_0002369 | denotes | adrenal glands |
| PD-UBERON-AE_T2 | 174-180 | http://purl.obolibrary.org/obo/UBERON_0002530 | denotes | glands |
| PD-UBERON-AE_T3 | 513-519 | http://purl.obolibrary.org/obo/UBERON_0000310 | denotes | breast |
| PD-UBERON-AE_T4 | 532-537 | http://purl.obolibrary.org/obo/UBERON_0000955 | denotes | brain |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 29-42 | ORDO:635 | denotes | neuroblastoma |
| AB1 | 322-335 | ORDO:635 | denotes | neuroblastoma |
| AB2 | 374-394 | ORDO:524 | denotes | Li-Fraumeni syndrome |
performance-test
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 532-537 | http://purl.obolibrary.org/obo/UBERON_0000955 | denotes | brain |
| PD-UBERON-AE-B_T2 | 174-180 | http://purl.obolibrary.org/obo/UBERON_0002530 | denotes | glands |
| PD-UBERON-AE-B_T3 | 513-519 | http://purl.obolibrary.org/obo/UBERON_0000310 | denotes | breast |
| PD-UBERON-AE-B_T4 | 166-180 | http://purl.obolibrary.org/obo/UBERON_0002369 | denotes | adrenal glands |