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PubMed:18558293 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-105 Sentence denotes A novel mutation of the PTEN gene in a Japanese patient with Cowden syndrome and bilateral breast cancer.
TextSentencer_T2 106-270 Sentence denotes Cowden syndrome (CS), also known as multiple hamartoma syndrome, is an autosomal dominant cancer syndrome associated with a high risk of breast and thyroid cancers.
TextSentencer_T3 271-543 Sentence denotes The phosphatase and tensin homolog gene (PTEN) encodes a lipid phosphatase that contains a PTPase domain and a C2 domain and plays a role as a tumor suppressor that negatively regulates the cell-survival signaling pathway initiated by phosphatidylinositol 3-kinase (PI3K).
TextSentencer_T4 544-635 Sentence denotes PTEN inhibits angiogenesis, and germline mutations of the PTEN gene are associated with CS.
TextSentencer_T5 636-722 Sentence denotes We screened for mutations in the PTEN gene in two unrelated Japanese patients with CS.
TextSentencer_T6 723-903 Sentence denotes In one patient, who suffered from bilateral breast cancer, thyroid adenoma, and gastric malignant lymphoma, we found a single-base substitution in exon 2 (115G>C) of the PTEN gene.
TextSentencer_T7 904-969 Sentence denotes This transversion results in a germline missense mutation (A39P).
TextSentencer_T8 970-1157 Sentence denotes To date, nine different mutations have been identified in exon 2 of the PTEN gene in patients with CS and variant CS; however, the A39P missense mutation has not been reported previously.
TextSentencer_T9 1158-1243 Sentence denotes We also detected a previously reported nonsense mutation, 697C>T, resulting in R233X.
T1 0-105 Sentence denotes A novel mutation of the PTEN gene in a Japanese patient with Cowden syndrome and bilateral breast cancer.
T2 106-270 Sentence denotes Cowden syndrome (CS), also known as multiple hamartoma syndrome, is an autosomal dominant cancer syndrome associated with a high risk of breast and thyroid cancers.
T3 271-543 Sentence denotes The phosphatase and tensin homolog gene (PTEN) encodes a lipid phosphatase that contains a PTPase domain and a C2 domain and plays a role as a tumor suppressor that negatively regulates the cell-survival signaling pathway initiated by phosphatidylinositol 3-kinase (PI3K).
T4 544-635 Sentence denotes PTEN inhibits angiogenesis, and germline mutations of the PTEN gene are associated with CS.
T5 636-722 Sentence denotes We screened for mutations in the PTEN gene in two unrelated Japanese patients with CS.
T6 723-903 Sentence denotes In one patient, who suffered from bilateral breast cancer, thyroid adenoma, and gastric malignant lymphoma, we found a single-base substitution in exon 2 (115G>C) of the PTEN gene.
T7 904-969 Sentence denotes This transversion results in a germline missense mutation (A39P).
T8 970-1157 Sentence denotes To date, nine different mutations have been identified in exon 2 of the PTEN gene in patients with CS and variant CS; however, the A39P missense mutation has not been reported previously.
T9 1158-1243 Sentence denotes We also detected a previously reported nonsense mutation, 697C>T, resulting in R233X.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 24-28 gene:5728 denotes PTEN
T1 81-104 disease:C0281267 denotes bilateral breast cancer
T2 24-28 gene:5728 denotes PTEN
T3 61-76 disease:C0018553 denotes Cowden syndrome
T4 602-606 gene:5728 denotes PTEN
T5 632-634 disease:C0018553 denotes CS
T6 669-673 gene:5728 denotes PTEN
T7 719-721 disease:C0018553 denotes CS
T8 1042-1046 gene:5728 denotes PTEN
T9 1084-1086 disease:C0018553 denotes CS
T10 1042-1046 gene:5728 denotes PTEN
T11 1069-1071 disease:C0018553 denotes CS
R1 T0 T1 associated_with PTEN,bilateral breast cancer
R2 T2 T3 associated_with PTEN,Cowden syndrome
R3 T4 T5 associated_with PTEN,CS
R4 T6 T7 associated_with PTEN,CS
R5 T8 T9 associated_with PTEN,CS
R6 T10 T11 associated_with PTEN,CS

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
18558293-0#24#28#gene5728 24-28 gene5728 denotes PTEN
18558293-0#61#76#diseaseC0018553 61-76 diseaseC0018553 denotes Cowden syndrome
24#28#gene572861#76#diseaseC0018553 18558293-0#24#28#gene5728 18558293-0#61#76#diseaseC0018553 associated_with PTEN,Cowden syndrome

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 151-160 HP:0010566 denotes hamartoma
AB2 782-797 HP:0000854 denotes thyroid adenoma
AB3 821-829 HP:0002665 denotes lymphoma

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 106-121 ORDO:201 denotes Cowden syndrome
AB2 142-169 ORDO:201 denotes multiple hamartoma syndrome
TI1 61-76 ORDO:201 denotes Cowden syndrome

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 91-97 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T2 243-249 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T3 767-773 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 91-97 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T2 243-249 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast
PD-UBERON-AE-B_T3 767-773 http://purl.obolibrary.org/obo/UBERON_0000310 denotes breast