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PubMed:16434322 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-122 Sentence denotes Two neurofibromatosis type 1 cases associated with rhabdomyosarcoma of bladder, one with a large deletion in the NF1 gene.
TextSentencer_T2 123-253 Sentence denotes Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder, affecting approximately 1 in 3,500 individuals worldwide.
TextSentencer_T3 254-364 Sentence denotes Mutations of the NF1 tumor suppressor gene predispose individuals to a variety of benign and malignant tumors.
TextSentencer_T4 365-479 Sentence denotes Rhabdomyosarcoma (RMS) is an uncommon malignant soft tissue sarcoma and is also a rare tumor type in NF1 patients.
TextSentencer_T5 480-516 Sentence denotes We report two cases of NF1 with RMS.
TextSentencer_T6 517-655 Sentence denotes The first is that of an infant with overlapping phenotypic features of NF1 and Noonan syndrome (NS) who presented with RMS of the bladder.
TextSentencer_T7 656-747 Sentence denotes The second infant likewise exhibited NF1 features and was also associated with bladder RMS.
TextSentencer_T8 748-822 Sentence denotes DNA samples were extracted from peripheral blood and tumor tissue samples.
TextSentencer_T9 823-1058 Sentence denotes We performed loss of heterozygosity (LOH) analysis of the NF1 gene by using seven intragenic markers (IVS27AAAT2.1, IVS27EVI-20, IVS27AC24.8, IVS27AC28.4, M98509, IVS27AC33.1, IVS38TG53.0) and one extragenic polymorphic marker (3'NF1).
TextSentencer_T10 1059-1165 Sentence denotes A large deletion was detected in the NF1 gene in the NF1-Noonan syndrome (NF-NS) case associated with RMS.
T1 0-122 Sentence denotes Two neurofibromatosis type 1 cases associated with rhabdomyosarcoma of bladder, one with a large deletion in the NF1 gene.
T2 123-253 Sentence denotes Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder, affecting approximately 1 in 3,500 individuals worldwide.
T3 254-364 Sentence denotes Mutations of the NF1 tumor suppressor gene predispose individuals to a variety of benign and malignant tumors.
T4 365-479 Sentence denotes Rhabdomyosarcoma (RMS) is an uncommon malignant soft tissue sarcoma and is also a rare tumor type in NF1 patients.
T5 480-516 Sentence denotes We report two cases of NF1 with RMS.
T6 517-655 Sentence denotes The first is that of an infant with overlapping phenotypic features of NF1 and Noonan syndrome (NS) who presented with RMS of the bladder.
T7 656-747 Sentence denotes The second infant likewise exhibited NF1 features and was also associated with bladder RMS.
T8 748-822 Sentence denotes DNA samples were extracted from peripheral blood and tumor tissue samples.
T9 823-1058 Sentence denotes We performed loss of heterozygosity (LOH) analysis of the NF1 gene by using seven intragenic markers (IVS27AAAT2.1, IVS27EVI-20, IVS27AC24.8, IVS27AC28.4, M98509, IVS27AC33.1, IVS38TG53.0) and one extragenic polymorphic marker (3'NF1).
T10 1059-1165 Sentence denotes A large deletion was detected in the NF1 gene in the NF1-Noonan syndrome (NF-NS) case associated with RMS.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 123-140 HP_0001067 denotes Neurofibromatosis
T2 275-280 HP_0002664 denotes tumor
T3 357-363 HP_0002664 denotes tumors
T4 365-381 HP_0002859 denotes Rhabdomyosarcoma
T5 413-432 HP_0030448 denotes soft tissue sarcoma
T6 425-432 HP_0100242 denotes sarcoma
T7 452-457 HP_0002664 denotes tumor
T8 801-806 HP_0002664 denotes tumor

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
16434322-8#37#40#gene4763 1096-1099 gene4763 denotes NF1
16434322-8#53#56#diseaseC0027831 1112-1115 diseaseC0027831 denotes NF1
16434322-8#102#105#diseaseC0035412 1161-1164 diseaseC0035412 denotes RMS
37#40#gene476353#56#diseaseC0027831 16434322-8#37#40#gene4763 16434322-8#53#56#diseaseC0027831 associated_with NF1,NF1
37#40#gene4763102#105#diseaseC0035412 16434322-8#37#40#gene4763 16434322-8#102#105#diseaseC0035412 associated_with NF1,RMS

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 51-67 HP:0002859 denotes rhabdomyosarcoma
AB1 365-381 HP:0002859 denotes Rhabdomyosarcoma
AB2 413-432 HP:0030448 denotes soft tissue sarcoma

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 123-147 ORDO:636 denotes Neurofibromatosis type 1
TI1 4-28 ORDO:636 denotes neurofibromatosis type 1
AB2 149-152 ORDO:636 denotes NF1
TI2 51-67 ORDO:780 denotes rhabdomyosarcoma
TI3 113-116 ORDO:636 denotes NF1
AB3 271-274 ORDO:636 denotes NF1
AB4 365-381 ORDO:780 denotes Rhabdomyosarcoma
AB5 383-386 ORDO:93307 denotes RMS
AB6 466-469 ORDO:636 denotes NF1
AB7 503-506 ORDO:636 denotes NF1
AB8 512-515 ORDO:93307 denotes RMS
AB9 588-591 ORDO:636 denotes NF1
AB10 596-611 ORDO:648 denotes Noonan syndrome
AB11 636-639 ORDO:93307 denotes RMS
AB12 693-696 ORDO:636 denotes NF1
AB13 743-746 ORDO:93307 denotes RMS
AB14 881-884 ORDO:636 denotes NF1
AB15 1053-1056 ORDO:636 denotes NF1
AB16 1096-1099 ORDO:636 denotes NF1
AB17 1112-1115 ORDO:636 denotes NF1
AB18 1116-1131 ORDO:648 denotes Noonan syndrome
AB19 1161-1164 ORDO:93307 denotes RMS

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 418-424 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissue
PD-UBERON-AE-B_T2 807-813 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissue
PD-UBERON-AE-B_T3 791-796 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1096-1099 gene:4763 denotes NF1
T1 1161-1164 disease:C0035412 denotes RMS
R1 T0 T1 associated_with NF1,RMS