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PubMed:16329110 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-65 Sentence denotes Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome?
TextSentencer_T2 66-211 Sentence denotes A 17-month-old girl with clinical manifestations of Nevo syndrome and NSD1 (nuclear receptor binding SET domain protein 1) deletion is described.
TextSentencer_T3 212-397 Sentence denotes Nevo syndrome is a rare overgrowth syndrome showing considerable phenotypic overlap with Sotos syndrome-another, more frequent overgrowth syndrome caused by NSD1 mutations or deletions.
TextSentencer_T4 398-572 Sentence denotes About a half of Japanese Sotos syndrome patients carry a 2.2-Mb common deletion encompassing NSD1 and present with frequent brain, cardiovascular, or urinary tract anomalies.
TextSentencer_T5 573-730 Sentence denotes The girl we described had the common deletion and showed patent ductus arteriosus, atrial septal defect, vesicoureteral reflux, and bilateral hydronephrosis.
TextSentencer_T6 731-859 Sentence denotes It was thus concluded that the clinical manifestations, including the Nevo syndrome phenotype, were caused by the microdeletion.
T1 0-65 Sentence denotes Nevo syndrome with an NSD1 deletion: a variant of Sotos syndrome?
T2 66-211 Sentence denotes A 17-month-old girl with clinical manifestations of Nevo syndrome and NSD1 (nuclear receptor binding SET domain protein 1) deletion is described.
T3 212-397 Sentence denotes Nevo syndrome is a rare overgrowth syndrome showing considerable phenotypic overlap with Sotos syndrome-another, more frequent overgrowth syndrome caused by NSD1 mutations or deletions.
T4 398-572 Sentence denotes About a half of Japanese Sotos syndrome patients carry a 2.2-Mb common deletion encompassing NSD1 and present with frequent brain, cardiovascular, or urinary tract anomalies.
T5 573-730 Sentence denotes The girl we described had the common deletion and showed patent ductus arteriosus, atrial septal defect, vesicoureteral reflux, and bilateral hydronephrosis.
T6 731-859 Sentence denotes It was thus concluded that the clinical manifestations, including the Nevo syndrome phenotype, were caused by the microdeletion.

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
16329110-0#22#26#gene64324 22-26 gene64324 denotes NSD1
16329110-0#50#64#diseaseC0175695 50-64 diseaseC0175695 denotes Sotos syndrome
22#26#gene6432450#64#diseaseC0175695 16329110-0#22#26#gene64324 16329110-0#50#64#diseaseC0175695 associated_with NSD1,Sotos syndrome

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 236-246 HP:0001548 denotes overgrowth
AB2 339-349 HP:0001548 denotes overgrowth
AB3 630-654 HP:0001643 denotes patent ductus arteriosus
AB4 656-676 HP:0001631 denotes atrial septal defect
AB5 678-699 HP:0000076 denotes vesicoureteral reflux
AB6 715-729 HP:0000126 denotes hydronephrosis

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 50-64 ORDO:821 denotes Sotos syndrome
AB1 301-315 ORDO:821 denotes Sotos syndrome
AB2 423-437 ORDO:821 denotes Sotos syndrome
AB3 656-676 ORDO:1478 denotes atrial septal defect

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 522-527 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T2 637-654 http://purl.obolibrary.org/obo/UBERON_0005440 denotes ductus arteriosus

DisGeNET

Id Subject Object Predicate Lexical cue
T0 22-26 gene:64324 denotes NSD1
T1 0-13 disease:C0268342 denotes Nevo syndrome
T2 22-26 gene:64324 denotes NSD1
T3 0-13 disease:C2936777 denotes Nevo syndrome
T4 22-26 gene:64324 denotes NSD1
T5 50-64 disease:C0175695 denotes Sotos syndrome
R1 T0 T1 associated_with NSD1,Nevo syndrome
R2 T2 T3 associated_with NSD1,Nevo syndrome
R3 T4 T5 associated_with NSD1,Sotos syndrome