PubMed:10484981
Annnotations
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 127-145 | HP_0000006 | denotes | autosomal dominant |
| T2 | 197-203 | HP_0002664 | denotes | cancer |
| T3 | 300-307 | HP_0002664 | denotes | cancers |
| T4 | 519-525 | HP_0002664 | denotes | cancer |
| T5 | 789-794 | HP_0002664 | denotes | tumor |
| T6 | 850-865 | HP_0002885 | denotes | medulloblastoma |
| T7 | 994-999 | HP_0002664 | denotes | Tumor |
| T8 | 1123-1128 | HP_0002664 | denotes | tumor |
| T9 | 1599-1614 | HP_0002885 | denotes | medulloblastoma |
| T10 | 1745-1750 | HP_0002664 | denotes | tumor |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10484981-0#11#15#gene7157 | 11-15 | gene7157 | denotes | TP53 |
| 10484981-0#71#91#diseaseC0085390 | 71-91 | diseaseC0085390 | denotes | Li-Fraumeni syndrome |
| 11#15#gene715771#91#diseaseC0085390 | 10484981-0#11#15#gene7157 | 10484981-0#71#91#diseaseC0085390 | associated_with | TP53,Li-Fraumeni syndrome |
performance-test
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 795-802 | http://purl.obolibrary.org/obo/UBERON_0000479 | denotes | tissues |
| PD-UBERON-AE-B_T2 | 1000-1006 | http://purl.obolibrary.org/obo/UBERON_0000479 | denotes | tissue |
| PD-UBERON-AE-B_T3 | 1129-1136 | http://purl.obolibrary.org/obo/UBERON_0000479 | denotes | tissues |
| PD-UBERON-AE-B_T4 | 683-688 | http://purl.obolibrary.org/obo/UBERON_0000178 | denotes | blood |
| PD-UBERON-AE-B_T5 | 981-986 | http://purl.obolibrary.org/obo/UBERON_0000178 | denotes | blood |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 850-865 | HP:0002885 | denotes | medulloblastoma |
| AB2 | 1599-1614 | HP:0002885 | denotes | medulloblastoma |
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-99 | Sentence | denotes | Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family. |
| TextSentencer_T2 | 100-233 | Sentence | denotes | Li-Fraumeni syndrome is an autosomal dominant disorder that is characterized by various types of cancer in childhood and adult cases. |
| TextSentencer_T3 | 234-365 | Sentence | denotes | Although hereditary TP53 mutation is very rare in different human cancers, it has been frequently reported in Li-Fraumeni syndrome. |
| TextSentencer_T4 | 366-526 | Sentence | denotes | On the other hand, hereditary mutations of TP57KIP2, P15INK4B, and P16INK4A, which affect the cell cycle similar to TP53, were observed in some types of cancer. |
| TextSentencer_T5 | 527-803 | Sentence | denotes | In a Turkish family with the diagnosis of Li-Fraumeni syndrome, we analyzed the mutation pattern of TP53, P57KIP2, P15INK4B, and P16INK4A in the peripheral blood, and loss of heterozygosity (homo/hemizygous deletion) pattern of TP53 and P15INK4B/P16INK4A in two tumor tissues. |
| TextSentencer_T6 | 804-993 | Sentence | denotes | The propositus had a seminoma, his daughter a medulloblastoma, and one of his healthy cousins, a TP53 codon 292 missense point mutation (AAA-->ATA; Lys-->Ile) in the peripheral blood cells. |
| TextSentencer_T7 | 994-1103 | Sentence | denotes | Tumor tissue obtained from the propositus with the seminoma revealed loss of heterozygosity in the TP53 gene. |
| TextSentencer_T8 | 1104-1289 | Sentence | denotes | In the analyses of tumor tissues from the propositus and his daughter, a P16INK4A codon 94 missense point mutation (GCG-->GAG; Ala-->Glu) was observed with the hereditary TP53 mutation. |
| TextSentencer_T9 | 1290-1384 | Sentence | denotes | P16INK4A codon 94 mutation observed in our family is a novel mutation in Li-Fraumeni syndrome. |
| TextSentencer_T10 | 1385-1464 | Sentence | denotes | No other gene alteration in TP53, P57KIP2, P15INK4B, and P16INK4A was observed. |
| TextSentencer_T11 | 1465-1681 | Sentence | denotes | Existence of the P16INK4A mutation and the hereditary TP53 mutation with or without loss of heterozygosity in the TP53 gene (seminoma/medulloblastoma) may be evidence for a common mechanism involved in tumorogenesis. |
| TextSentencer_T12 | 1682-1773 | Sentence | denotes | The gene alterations in TP53 and P16INK4A genes may be used as tumor markers in our family. |
| T1 | 0-99 | Sentence | denotes | Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family. |
| T2 | 100-233 | Sentence | denotes | Li-Fraumeni syndrome is an autosomal dominant disorder that is characterized by various types of cancer in childhood and adult cases. |
| T3 | 234-365 | Sentence | denotes | Although hereditary TP53 mutation is very rare in different human cancers, it has been frequently reported in Li-Fraumeni syndrome. |
| T4 | 366-526 | Sentence | denotes | On the other hand, hereditary mutations of TP57KIP2, P15INK4B, and P16INK4A, which affect the cell cycle similar to TP53, were observed in some types of cancer. |
| T5 | 527-803 | Sentence | denotes | In a Turkish family with the diagnosis of Li-Fraumeni syndrome, we analyzed the mutation pattern of TP53, P57KIP2, P15INK4B, and P16INK4A in the peripheral blood, and loss of heterozygosity (homo/hemizygous deletion) pattern of TP53 and P15INK4B/P16INK4A in two tumor tissues. |
| T6 | 804-993 | Sentence | denotes | The propositus had a seminoma, his daughter a medulloblastoma, and one of his healthy cousins, a TP53 codon 292 missense point mutation (AAA-->ATA; Lys-->Ile) in the peripheral blood cells. |
| T7 | 994-1103 | Sentence | denotes | Tumor tissue obtained from the propositus with the seminoma revealed loss of heterozygosity in the TP53 gene. |
| T8 | 1104-1289 | Sentence | denotes | In the analyses of tumor tissues from the propositus and his daughter, a P16INK4A codon 94 missense point mutation (GCG-->GAG; Ala-->Glu) was observed with the hereditary TP53 mutation. |
| T9 | 1290-1384 | Sentence | denotes | P16INK4A codon 94 mutation observed in our family is a novel mutation in Li-Fraumeni syndrome. |
| T10 | 1385-1464 | Sentence | denotes | No other gene alteration in TP53, P57KIP2, P15INK4B, and P16INK4A was observed. |
| T11 | 1465-1681 | Sentence | denotes | Existence of the P16INK4A mutation and the hereditary TP53 mutation with or without loss of heterozygosity in the TP53 gene (seminoma/medulloblastoma) may be evidence for a common mechanism involved in tumorogenesis. |
| T12 | 1682-1773 | Sentence | denotes | The gene alterations in TP53 and P16INK4A genes may be used as tumor markers in our family. |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 100-120 | ORDO:524 | denotes | Li-Fraumeni syndrome |
| TI1 | 71-91 | ORDO:524 | denotes | Li-Fraumeni syndrome |
| AB2 | 344-364 | ORDO:524 | denotes | Li-Fraumeni syndrome |
| AB3 | 569-589 | ORDO:524 | denotes | Li-Fraumeni syndrome |
| AB4 | 850-865 | ORDO:616 | denotes | medulloblastoma |
| AB5 | 1363-1383 | ORDO:524 | denotes | Li-Fraumeni syndrome |
| AB6 | 1599-1614 | ORDO:616 | denotes | medulloblastoma |
UBERON-AE
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 683-688 | http://purl.obolibrary.org/obo/UBERON_0000178 | denotes | blood |
| PD-UBERON-AE-B_T2 | 981-986 | http://purl.obolibrary.org/obo/UBERON_0000178 | denotes | blood |
| PD-UBERON-AE-B_T3 | 795-802 | http://purl.obolibrary.org/obo/UBERON_0000479 | denotes | tissues |
| PD-UBERON-AE-B_T4 | 1000-1006 | http://purl.obolibrary.org/obo/UBERON_0000479 | denotes | tissue |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 71-91 | Modifier:D016864 | denotes | Li-Fraumeni syndrome |
| T2 | 100-120 | SpecificDisease:D016864 | denotes | Li-Fraumeni syndrome |
| T3 | 127-154 | DiseaseClass:D030342 | denotes | autosomal dominant disorder |
| T4 | 197-203 | DiseaseClass:D009369 | denotes | cancer |
| T5 | 300-307 | DiseaseClass:D009369 | denotes | cancers |
| T6 | 344-364 | SpecificDisease:D016864 | denotes | Li-Fraumeni syndrome |
| T7 | 519-525 | DiseaseClass:D009369 | denotes | cancer |
| T8 | 569-589 | SpecificDisease:D016864 | denotes | Li-Fraumeni syndrome |
| T9 | 789-794 | Modifier:D009369 | denotes | tumor |
| T10 | 825-833 | SpecificDisease:D018239 | denotes | seminoma |
| T11 | 850-865 | SpecificDisease:D008527 | denotes | medulloblastoma |
| T12 | 1045-1053 | SpecificDisease:D018239 | denotes | seminoma |
| T13 | 1123-1128 | Modifier:D009369 | denotes | tumor |
| T14 | 1363-1383 | SpecificDisease:D016864 | denotes | Li-Fraumeni syndrome |
| T15 | 1590-1598 | SpecificDisease:D018239 | denotes | seminoma |
| T16 | 1599-1614 | SpecificDisease:D008527 | denotes | medulloblastoma |
| T17 | 1667-1680 | DiseaseClass:D002471 | denotes | tumorogenesis |
| T18 | 1745-1750 | Modifier:D009369 | denotes | tumor |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 254-258 | gene:7157 | denotes | TP53 |
| T1 | 300-307 | disease:C0006826 | denotes | cancers |
| T2 | 254-258 | gene:7157 | denotes | TP53 |
| T3 | 344-364 | disease:C0085390 | denotes | Li-Fraumeni syndrome |
| R1 | T0 | T1 | associated_with | TP53,cancers |
| R2 | T2 | T3 | associated_with | TP53,Li-Fraumeni syndrome |
NCBI-Disease-Train
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T956 | 71-91 | Modifier | denotes | Li-Fraumeni syndrome | D016864 |
| T957 | 100-120 | SpecificDisease | denotes | Li-Fraumeni syndrome | D016864 |
| T958 | 127-154 | DiseaseClass | denotes | autosomal dominant disorder | D030342 |
| T959 | 197-203 | DiseaseClass | denotes | cancer | D009369 |
| T960 | 300-307 | DiseaseClass | denotes | cancers | D009369 |
| T961 | 344-364 | SpecificDisease | denotes | Li-Fraumeni syndrome | D016864 |
| T962 | 519-525 | DiseaseClass | denotes | cancer | D009369 |
| T963 | 569-589 | SpecificDisease | denotes | Li-Fraumeni syndrome | D016864 |
| T964 | 789-794 | Modifier | denotes | tumor | D009369 |
| T965 | 825-833 | SpecificDisease | denotes | seminoma | D018239 |
| T966 | 850-865 | SpecificDisease | denotes | medulloblastoma | D008527 |
| T967 | 1045-1053 | SpecificDisease | denotes | seminoma | D018239 |
| T968 | 1123-1128 | Modifier | denotes | tumor | D009369 |
| T969 | 1363-1383 | SpecificDisease | denotes | Li-Fraumeni syndrome | D016864 |
| T970 | 1590-1598 | SpecificDisease | denotes | seminoma | D018239 |
| T971 | 1599-1614 | SpecificDisease | denotes | medulloblastoma | D008527 |
| T972 | 1667-1680 | DiseaseClass | denotes | tumorogenesis | D002471 |
| T973 | 1745-1750 | Modifier | denotes | tumor | D009369 |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T956 | 71-91 | Modifier | denotes | Li-Fraumeni syndrome | D016864 |
| T957 | 100-120 | SpecificDisease | denotes | Li-Fraumeni syndrome | D016864 |
| T958 | 127-154 | DiseaseClass | denotes | autosomal dominant disorder | D030342 |
| T959 | 197-203 | DiseaseClass | denotes | cancer | D009369 |
| T960 | 300-307 | DiseaseClass | denotes | cancers | D009369 |
| T961 | 344-364 | SpecificDisease | denotes | Li-Fraumeni syndrome | D016864 |
| T962 | 519-525 | DiseaseClass | denotes | cancer | D009369 |
| T963 | 569-589 | SpecificDisease | denotes | Li-Fraumeni syndrome | D016864 |
| T964 | 789-794 | Modifier | denotes | tumor | D009369 |
| T965 | 825-833 | SpecificDisease | denotes | seminoma | D018239 |
| T966 | 850-865 | SpecificDisease | denotes | medulloblastoma | D008527 |
| T967 | 1045-1053 | SpecificDisease | denotes | seminoma | D018239 |
| T968 | 1123-1128 | Modifier | denotes | tumor | D009369 |
| T969 | 1363-1383 | SpecificDisease | denotes | Li-Fraumeni syndrome | D016864 |
| T970 | 1590-1598 | SpecificDisease | denotes | seminoma | D018239 |
| T971 | 1599-1614 | SpecificDisease | denotes | medulloblastoma | D008527 |
| T972 | 1667-1680 | DiseaseClass | denotes | tumorogenesis | D002471 |
| T973 | 1745-1750 | Modifier | denotes | tumor | D009369 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 71-91 | Modifier | denotes | Li-Fraumeni syndrome |
| T2 | 100-120 | SpecificDisease | denotes | Li-Fraumeni syndrome |
| T3 | 197-203 | DiseaseClass | denotes | cancer |
| T4 | 300-307 | DiseaseClass | denotes | cancers |
| T5 | 344-364 | SpecificDisease | denotes | Li-Fraumeni syndrome |
| T6 | 519-525 | DiseaseClass | denotes | cancer |
| T7 | 569-589 | Modifier | denotes | Li-Fraumeni syndrome |
| T8 | 825-833 | SpecificDisease | denotes | seminoma |
| T9 | 850-865 | SpecificDisease | denotes | medulloblastoma |
| T10 | 1045-1053 | SpecificDisease | denotes | seminoma |
| T11 | 1363-1383 | SpecificDisease | denotes | Li-Fraumeni syndrome |
| T12 | 1590-1598 | SpecificDisease | denotes | seminoma |
| T13 | 1599-1614 | SpecificDisease | denotes | medulloblastoma |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 71-91 | SpecificDisease | denotes | Li-Fraumeni syndrome |
| T2 | 100-120 | SpecificDisease | denotes | Li-Fraumeni syndrome |
| T3 | 197-203 | DiseaseClass | denotes | cancer |
| T4 | 300-307 | DiseaseClass | denotes | cancers |
| T5 | 344-364 | SpecificDisease | denotes | Li-Fraumeni syndrome |
| T6 | 519-525 | DiseaseClass | denotes | cancer |
| T7 | 569-589 | SpecificDisease | denotes | Li-Fraumeni syndrome |
| T8 | 825-833 | SpecificDisease | denotes | seminoma |
| T9 | 850-865 | SpecificDisease | denotes | medulloblastoma |
| T10 | 1045-1053 | SpecificDisease | denotes | seminoma |
| T11 | 1363-1383 | SpecificDisease | denotes | Li-Fraumeni syndrome |
| T12 | 1590-1614 | CompositeMention | denotes | seminoma/medulloblastoma |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 71-91 | SpecificDisease | denotes | Li-Fraumeni syndrome |
| T2 | 100-120 | SpecificDisease | denotes | Li-Fraumeni syndrome |
| T3 | 197-203 | DiseaseClass | denotes | cancer |
| T4 | 300-307 | DiseaseClass | denotes | cancers |
| T5 | 344-364 | SpecificDisease | denotes | Li-Fraumeni syndrome |
| T6 | 519-525 | DiseaseClass | denotes | cancer |
| T7 | 569-589 | SpecificDisease | denotes | Li-Fraumeni syndrome |
| T8 | 825-833 | SpecificDisease | denotes | seminoma |
| T9 | 850-865 | SpecificDisease | denotes | medulloblastoma |
| T10 | 1045-1053 | SpecificDisease | denotes | seminoma |
| T11 | 1363-1383 | SpecificDisease | denotes | Li-Fraumeni syndrome |
| T12 | 1590-1614 | CompositeMention | denotes | seminoma/medulloblastoma |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 71-91 | SpecificDisease | denotes | Li-Fraumeni syndrome |
| T2 | 100-120 | SpecificDisease | denotes | Li-Fraumeni syndrome |
| T3 | 197-203 | DiseaseClass | denotes | cancer |
| T4 | 243-253 | Modifier | denotes | hereditary |
| T5 | 294-307 | DiseaseClass | denotes | human cancers |
| T6 | 344-364 | SpecificDisease | denotes | Li-Fraumeni syndrome |
| T7 | 385-395 | Modifier | denotes | hereditary |
| T8 | 519-525 | DiseaseClass | denotes | cancer |
| T9 | 569-589 | SpecificDisease | denotes | Li-Fraumeni syndrome |
| T10 | 825-833 | SpecificDisease | denotes | seminoma |
| T11 | 850-865 | SpecificDisease | denotes | medulloblastoma |
| T12 | 1045-1053 | SpecificDisease | denotes | seminoma |
| T13 | 1264-1274 | Modifier | denotes | hereditary |
| T14 | 1363-1383 | SpecificDisease | denotes | Li-Fraumeni syndrome |
| T15 | 1508-1518 | Modifier | denotes | hereditary |
| T16 | 1590-1614 | CompositeMention | denotes | seminoma/medulloblastoma |
| T17 | 1667-1680 | DiseaseClass | denotes | tumorogenesis |