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PubMed:7479827 JSONTXT

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DisGeNET

Id Subject Object Predicate Lexical cue
T0 1320-1325 gene:37 denotes VLCAD
T1 1340-1356 disease:C0342784 denotes VLCAD deficiency
T2 1320-1325 gene:37 denotes VLCAD
T3 1447-1461 disease:C0878544 denotes cardiomyopathy
R1 T0 T1 associated_with VLCAD,VLCAD deficiency
R2 T2 T3 associated_with VLCAD,cardiomyopathy

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
7479827-5#43#48#gene37 716-721 gene37 denotes VLCAD
7479827-5#171#185#diseaseC0018790 844-858 diseaseC0018790 denotes cardiac arrest
7479827-8#47#52#gene37 1320-1325 gene37 denotes VLCAD
7479827-8#67#83#diseaseC3887523 1340-1356 diseaseC3887523 denotes VLCAD deficiency
7479827-8#174#188#diseaseC0878544 1447-1461 diseaseC0878544 denotes cardiomyopathy
43#48#gene37171#185#diseaseC0018790 7479827-5#43#48#gene37 7479827-5#171#185#diseaseC0018790 associated_with VLCAD,cardiac arrest
47#52#gene3767#83#diseaseC3887523 7479827-8#47#52#gene37 7479827-8#67#83#diseaseC3887523 associated_with VLCAD,VLCAD deficiency
47#52#gene37174#188#diseaseC0878544 7479827-8#47#52#gene37 7479827-8#174#188#diseaseC0878544 associated_with VLCAD,cardiomyopathy

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 227-232 http://purl.obolibrary.org/obo/UBERON_0000948 denotes heart
PD-UBERON-AE-B_T2 361-366 http://purl.obolibrary.org/obo/UBERON_0002107 denotes liver

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-142 Sentence denotes Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood.
TextSentencer_T2 143-233 Sentence denotes beta-Oxidation of long-chain fatty acids provides the major source of energy in the heart.
TextSentencer_T3 234-414 Sentence denotes Defects in enzymes of the beta-oxidation pathway cause sudden, unexplained death in childhood, acute hepatic encephalopathy or liver failure, skeletal myopathy, and cardiomyopathy.
TextSentencer_T4 415-575 Sentence denotes Very-long-chain acyl-CoA dehydrogenase [VLCAD; very-long-chain-acyl-CoA:(acceptor) 2,3-oxidoreductase, EC 1.3.99.13] catalyzes the first step in beta-oxidation.
TextSentencer_T5 576-672 Sentence denotes We have isolated the human VLCAD cDNA and gene and determined the complete nucleotide sequences.
TextSentencer_T6 673-878 Sentence denotes Polymerase chain reaction amplification of VLCAD mRNA and genomic exons defined the molecular defects in two patients with VLCAD deficiency who presented with unexplained cardiac arrest and cardiomyopathy.
TextSentencer_T7 879-1041 Sentence denotes In one, a homozygous mutation in the consensus dinucleotide of the donor splice site (g+1-->a) was associated with universal skipping of the prior exon (exon 11).
TextSentencer_T8 1042-1272 Sentence denotes The second patient was a compound heterozygote, with a missense mutation, C1837-->T, changing the arginine at residue 613 to tryptophan on one allele and a single base deletion at the intron-exon 6 boundary as the second mutation.
TextSentencer_T9 1273-1492 Sentence denotes This initial delineation of human mutations in VLCAD suggests that VLCAD deficiency reduces myocardial fatty acid beta-oxidation and energy production and is associated with cardiomyopathy and sudden death in childhood.
T1 0-142 Sentence denotes Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood.
T2 143-233 Sentence denotes beta-Oxidation of long-chain fatty acids provides the major source of energy in the heart.
T3 234-414 Sentence denotes Defects in enzymes of the beta-oxidation pathway cause sudden, unexplained death in childhood, acute hepatic encephalopathy or liver failure, skeletal myopathy, and cardiomyopathy.
T4 415-575 Sentence denotes Very-long-chain acyl-CoA dehydrogenase [VLCAD; very-long-chain-acyl-CoA:(acceptor) 2,3-oxidoreductase, EC 1.3.99.13] catalyzes the first step in beta-oxidation.
T5 576-672 Sentence denotes We have isolated the human VLCAD cDNA and gene and determined the complete nucleotide sequences.
T6 673-878 Sentence denotes Polymerase chain reaction amplification of VLCAD mRNA and genomic exons defined the molecular defects in two patients with VLCAD deficiency who presented with unexplained cardiac arrest and cardiomyopathy.
T7 879-1041 Sentence denotes In one, a homozygous mutation in the consensus dinucleotide of the donor splice site (g+1-->a) was associated with universal skipping of the prior exon (exon 11).
T8 1042-1272 Sentence denotes The second patient was a compound heterozygote, with a missense mutation, C1837-->T, changing the arginine at residue 613 to tryptophan on one allele and a single base deletion at the intron-exon 6 boundary as the second mutation.
T9 1273-1492 Sentence denotes This initial delineation of human mutations in VLCAD suggests that VLCAD deficiency reduces myocardial fatty acid beta-oxidation and energy production and is associated with cardiomyopathy and sudden death in childhood.

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 97-111 HP:0001638 denotes cardiomyopathy
AB1 335-357 HP:0002480 denotes hepatic encephalopathy
AB2 376-393 HP:0003756 denotes skeletal myopathy
AB3 399-413 HP:0001638 denotes cardiomyopathy
AB4 844-858 HP:0001695 denotes cardiac arrest
AB5 863-877 HP:0001638 denotes cardiomyopathy
AB6 1447-1461 HP:0001638 denotes cardiomyopathy

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 39-88 ORDO:26793 denotes very-long-chain acyl-CoA dehydrogenase deficiency
AB1 796-812 ORDO:26793 denotes VLCAD deficiency
AB2 1340-1356 ORDO:26793 denotes VLCAD deficiency

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 361-366 http://purl.obolibrary.org/obo/UBERON_0002107 denotes liver
PD-UBERON-AE-B_T2 227-232 http://purl.obolibrary.org/obo/UBERON_0000948 denotes heart

NCBIDiseaseCorpus

Id Subject Object Predicate Lexical cue
T1 39-88 SpecificDisease:C536353 denotes very-long-chain acyl-CoA dehydrogenase deficiency
T2 97-111 SpecificDisease:D009202 denotes cardiomyopathy
T3 116-128 SpecificDisease:D003645 denotes sudden death
T4 289-314 SpecificDisease:D003645 denotes sudden, unexplained death
T5 335-357 SpecificDisease:D006501 denotes hepatic encephalopathy
T6 361-374 SpecificDisease:D017093 denotes liver failure
T7 376-393 SpecificDisease:D009135 denotes skeletal myopathy
T8 399-413 SpecificDisease:D009202 denotes cardiomyopathy
T9 796-812 SpecificDisease:C536353 denotes VLCAD deficiency
T10 844-858 SpecificDisease:D006323 denotes cardiac arrest
T11 863-877 SpecificDisease:D009202 denotes cardiomyopathy
T12 1340-1356 SpecificDisease:C536353 denotes VLCAD deficiency
T13 1447-1461 SpecificDisease:D009202 denotes cardiomyopathy
T14 1466-1478 SpecificDisease:D003645 denotes sudden death

NCBI-Disease-Train

Id Subject Object Predicate Lexical cue database_id
T4301 39-88 SpecificDisease denotes very-long-chain acyl-CoA dehydrogenase deficiency C536353
T4302 97-111 SpecificDisease denotes cardiomyopathy D009202
T4303 116-128 SpecificDisease denotes sudden death D003645
T4304 289-314 SpecificDisease denotes sudden, unexplained death D003645
T4305 335-357 SpecificDisease denotes hepatic encephalopathy D006501
T4306 361-374 SpecificDisease denotes liver failure D017093
T4307 376-393 SpecificDisease denotes skeletal myopathy D009135
T4308 399-413 SpecificDisease denotes cardiomyopathy D009202
T4309 796-812 SpecificDisease denotes VLCAD deficiency C536353
T4310 844-858 SpecificDisease denotes cardiac arrest D006323
T4311 863-877 SpecificDisease denotes cardiomyopathy D009202
T4312 1340-1356 SpecificDisease denotes VLCAD deficiency C536353
T4313 1447-1461 SpecificDisease denotes cardiomyopathy D009202
T4314 1466-1478 SpecificDisease denotes sudden death D003645

NCBI-Disease-Corpus-All

Id Subject Object Predicate Lexical cue database_id
T4301 39-88 SpecificDisease denotes very-long-chain acyl-CoA dehydrogenase deficiency C536353
T4302 97-111 SpecificDisease denotes cardiomyopathy D009202
T4303 116-128 SpecificDisease denotes sudden death D003645
T4304 289-314 SpecificDisease denotes sudden, unexplained death D003645
T4305 335-357 SpecificDisease denotes hepatic encephalopathy D006501
T4306 361-374 SpecificDisease denotes liver failure D017093
T4307 376-393 SpecificDisease denotes skeletal myopathy D009135
T4308 399-413 SpecificDisease denotes cardiomyopathy D009202
T4309 796-812 SpecificDisease denotes VLCAD deficiency C536353
T4310 844-858 SpecificDisease denotes cardiac arrest D006323
T4311 863-877 SpecificDisease denotes cardiomyopathy D009202
T4312 1340-1356 SpecificDisease denotes VLCAD deficiency C536353
T4313 1447-1461 SpecificDisease denotes cardiomyopathy D009202
T4314 1466-1478 SpecificDisease denotes sudden death D003645

NCBI-Disease-Corpus-2stage-All

Id Subject Object Predicate Lexical cue
T1 97-111 CompositeMention denotes cardiomyopathy
T2 116-141 CompositeMention denotes sudden death in childhood
T3 289-327 CompositeMention denotes sudden, unexplained death in childhood
T4 329-357 SpecificDisease denotes acute hepatic encephalopathy
T5 361-374 SpecificDisease denotes liver failure
T6 376-393 SpecificDisease denotes skeletal myopathy
T7 399-413 CompositeMention denotes cardiomyopathy
T8 796-812 SpecificDisease denotes VLCAD deficiency
T9 863-877 CompositeMention denotes cardiomyopathy
T10 1340-1356 SpecificDisease denotes VLCAD deficiency
T11 1447-1461 CompositeMention denotes cardiomyopathy
T12 1466-1491 CompositeMention denotes sudden death in childhood

NCBI-Disease-Corpus-rezarta-All

Id Subject Object Predicate Lexical cue
T1 39-88 SpecificDisease denotes very-long-chain acyl-CoA dehydrogenase deficiency
T2 97-128 CompositeMention denotes cardiomyopathy and sudden death
T3 289-314 SpecificDisease denotes sudden, unexplained death
T4 335-374 CompositeMention denotes hepatic encephalopathy or liver failure
T5 385-393 SpecificDisease denotes myopathy
T6 399-413 SpecificDisease denotes cardiomyopathy
T7 796-812 SpecificDisease denotes VLCAD deficiency
T8 844-877 CompositeMention denotes cardiac arrest and cardiomyopathy
T9 1340-1356 SpecificDisease denotes VLCAD deficiency
T10 1447-1478 CompositeMention denotes cardiomyopathy and sudden death

NCBI-Disease-Corpus-4oGuideline-All

Id Subject Object Predicate Lexical cue
T1 39-88 SpecificDisease denotes very-long-chain acyl-CoA dehydrogenase deficiency
T2 97-111 SpecificDisease denotes cardiomyopathy
T3 116-141 SpecificDisease denotes sudden death in childhood
T4 289-327 SpecificDisease denotes sudden, unexplained death in childhood
T5 329-357 SpecificDisease denotes acute hepatic encephalopathy
T6 361-374 SpecificDisease denotes liver failure
T7 376-393 SpecificDisease denotes skeletal myopathy
T8 399-413 SpecificDisease denotes cardiomyopathy
T9 796-812 SpecificDisease denotes VLCAD deficiency
T10 832-858 SpecificDisease denotes unexplained cardiac arrest
T11 863-877 SpecificDisease denotes cardiomyopathy
T12 1340-1356 SpecificDisease denotes VLCAD deficiency
T13 1447-1461 SpecificDisease denotes cardiomyopathy
T14 1466-1491 SpecificDisease denotes sudden death in childhood

NCBI-Disease-Corpus-Simple-All

Id Subject Object Predicate Lexical cue
T1 39-88 SpecificDisease denotes very-long-chain acyl-CoA dehydrogenase deficiency
T2 97-111 SpecificDisease denotes cardiomyopathy
T3 116-141 CompositeMention denotes sudden death in childhood
T4 289-327 CompositeMention denotes sudden, unexplained death in childhood
T5 329-357 SpecificDisease denotes acute hepatic encephalopathy
T6 361-374 SpecificDisease denotes liver failure
T7 376-393 SpecificDisease denotes skeletal myopathy
T8 399-413 SpecificDisease denotes cardiomyopathy
T9 796-812 SpecificDisease denotes VLCAD deficiency
T10 832-877 CompositeMention denotes unexplained cardiac arrest and cardiomyopathy
T11 1340-1356 SpecificDisease denotes VLCAD deficiency
T12 1447-1491 CompositeMention denotes cardiomyopathy and sudden death in childhood