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PubMed:10484981 JSONTXT

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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