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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-156 Sentence denotes Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His.
TextSentencer_T2 157-368 Sentence denotes LEOPARD syndrome (LS), generally caused by heterozygous mutations in the PTPN11 gene, is a rare autosomal-dominant multiple congenital anomaly condition, characterized by skin, facial, and cardiac abnormalities.
TextSentencer_T3 369-521 Sentence denotes Prognosis appears to be related to the type of structural, myocardial, and arrhythmogenic cardiac disease, especially hypertrophic cardiomyopathy (HCM).
TextSentencer_T4 522-760 Sentence denotes We report on a woman with LS and a novel Gln510His mutation in PTPN11, who had progressive HCM with congestive heart failure and nonsustained ventricular tachycardia, successfully treated with implantable cardioverter defibrillator (ICD).
TextSentencer_T5 761-950 Sentence denotes Comparing our patient to the literature suggests that specific mutations at codon 510 in PTPN11 (Gln510Glu, Gln510His, but not Gln510Pro) might be a predictor of fatal cardiac events in LS.
TextSentencer_T6 951-1108 Sentence denotes Molecular risk stratification and careful evaluations for an indication of ICD implantation are likely to be beneficial in managing patients with LS and HCM.
T1 0-156 Sentence denotes Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His.
T2 157-368 Sentence denotes LEOPARD syndrome (LS), generally caused by heterozygous mutations in the PTPN11 gene, is a rare autosomal-dominant multiple congenital anomaly condition, characterized by skin, facial, and cardiac abnormalities.
T3 369-521 Sentence denotes Prognosis appears to be related to the type of structural, myocardial, and arrhythmogenic cardiac disease, especially hypertrophic cardiomyopathy (HCM).
T4 522-760 Sentence denotes We report on a woman with LS and a novel Gln510His mutation in PTPN11, who had progressive HCM with congestive heart failure and nonsustained ventricular tachycardia, successfully treated with implantable cardioverter defibrillator (ICD).
T5 761-950 Sentence denotes Comparing our patient to the literature suggests that specific mutations at codon 510 in PTPN11 (Gln510Glu, Gln510His, but not Gln510Pro) might be a predictor of fatal cardiac events in LS.
T6 951-1108 Sentence denotes Molecular risk stratification and careful evaluations for an indication of ICD implantation are likely to be beneficial in managing patients with LS and HCM.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 130-136 gene:5781 denotes PTPN11
T1 55-82 disease:C0007194 denotes hypertrophic cardiomyopathy
T2 130-136 gene:5781 denotes PTPN11
T3 101-117 disease:C0175704 denotes LEOPARD syndrome
T4 230-236 gene:5781 denotes PTPN11
T5 157-173 disease:C0175704 denotes LEOPARD syndrome
T6 230-236 gene:5781 denotes PTPN11
T7 346-367 disease:C0018798 denotes cardiac abnormalities
T8 585-591 gene:5781 denotes PTPN11
T9 548-550 disease:C0175704 denotes LS
T10 850-856 gene:5781 denotes PTPN11
T11 947-949 disease:C0175704 denotes LS
T12 850-856 gene:5781 denotes PTPN11
T13 929-943 disease:C0741923 denotes cardiac events
R1 T0 T1 associated_with PTPN11,hypertrophic cardiomyopathy
R2 T2 T3 associated_with PTPN11,LEOPARD syndrome
R3 T4 T5 associated_with PTPN11,LEOPARD syndrome
R4 T6 T7 associated_with PTPN11,cardiac abnormalities
R5 T8 T9 associated_with PTPN11,LS
R6 T10 T11 associated_with PTPN11,LS
R7 T12 T13 associated_with PTPN11,cardiac events

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 253-271 HP_0000006 denotes autosomal-dominant
T2 346-367 HP_0001627 denotes cardiac abnormalities
T3 487-514 HP_0001639 denotes hypertrophic cardiomyopathy
T4 500-514 HP_0001638 denotes cardiomyopathy
T5 622-646 HP_0001635 denotes congestive heart failure
T6 633-646 HP_0001635 denotes heart failure
T7 664-687 HP_0004756 denotes ventricular tachycardia
T8 676-687 HP_0001649 denotes tachycardia

Allie

Id Subject Object Predicate Lexical cue
SS1_21910226_1_0 157-173 expanded denotes LEOPARD syndrome
SS2_21910226_1_0 175-177 abbr denotes LS
SS1_21910226_2_0 487-514 expanded denotes hypertrophic cardiomyopathy
SS2_21910226_2_0 516-519 abbr denotes HCM
SS1_21910226_3_0 715-753 expanded denotes implantable cardioverter defibrillator
SS2_21910226_3_0 755-758 abbr denotes ICD
AE1_21910226_1_0 SS1_21910226_1_0 SS2_21910226_1_0 abbreviatedTo LEOPARD syndrome,LS
AE1_21910226_2_0 SS1_21910226_2_0 SS2_21910226_2_0 abbreviatedTo hypertrophic cardiomyopathy,HCM
AE1_21910226_3_0 SS1_21910226_3_0 SS2_21910226_3_0 abbreviatedTo implantable cardioverter defibrillator,ICD

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
21910226-0#146#155#geners397507550 146-155 geners397507550 denotes Gln510His
21910226-0#101#117#diseaseC0175704 101-117 diseaseC0175704 denotes LEOPARD syndrome
21910226-4#127#136#geners121918470 888-897 geners121918470 denotes Gln510Pro
21910226-4#186#188#diseaseC0175704 947-949 diseaseC0175704 denotes LS
146#155#geners397507550101#117#diseaseC0175704 21910226-0#146#155#geners397507550 21910226-0#101#117#diseaseC0175704 associated_with Gln510His,LEOPARD syndrome
127#136#geners121918470186#188#diseaseC0175704 21910226-4#127#136#geners121918470 21910226-4#186#188#diseaseC0175704 associated_with Gln510Pro,LS

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
21910226-0#130#136#gene5781 130-136 gene5781 denotes PTPN11
21910226-0#55#82#diseaseC0007194 55-82 diseaseC0007194 denotes hypertrophic cardiomyopathy
21910226-0#101#117#diseaseC0175704 101-117 diseaseC0175704 denotes LEOPARD syndrome
130#136#gene578155#82#diseaseC0007194 21910226-0#130#136#gene5781 21910226-0#55#82#diseaseC0007194 associated_with PTPN11,hypertrophic cardiomyopathy
130#136#gene5781101#117#diseaseC0175704 21910226-0#130#136#gene5781 21910226-0#101#117#diseaseC0175704 associated_with PTPN11,LEOPARD syndrome

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 633-638 http://purl.obolibrary.org/obo/UBERON_0000948 denotes heart

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 55-82 HP:0001639 denotes hypertrophic cardiomyopathy
AB1 487-514 HP:0001639 denotes hypertrophic cardiomyopathy
AB2 622-646 HP:0001635 denotes congestive heart failure
AB3 664-687 HP:0004756 denotes ventricular tachycardia

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 157-173 ORDO:500 denotes LEOPARD syndrome
TI1 101-117 ORDO:500 denotes LEOPARD syndrome

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 633-638 http://purl.obolibrary.org/obo/UBERON_0000948 denotes heart