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PubMed:16418600 JSONTXT

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LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 983-991 OrganismTaxon denotes primates NCBItxid:9443
T2 996-1003 OrganismTaxon denotes rodents NCBItxid:9989

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-73 Sentence denotes Genetic investigation of the TSPYL1 gene in sudden infant death syndrome.
T2 74-85 Sentence denotes BACKGROUND:
T3 86-206 Sentence denotes Sudden infant death syndrome (SIDS) constitutes the most frequent cause of death in the postperinatal period in Germany.
T4 207-397 Sentence denotes Recently, a lethal phenotype characterized by sudden infant death with dysgenesis of the testes syndrome (SIDDT) was identified to be caused by loss of function mutations in the TSPYL1 gene.
T5 398-406 Sentence denotes PURPOSE:
T6 407-475 Sentence denotes The study's purpose was to reveal a possible role of TSPYL1 in SIDS.
T7 476-550 Sentence denotes METHODS: DNA samples of 126 SIDS cases and 261 controls were investigated.
T8 551-559 Sentence denotes RESULTS:
T9 560-643 Sentence denotes We found five sequence variations, each of them causing an amino acid substitution.
T10 644-791 Sentence denotes No Hardy Weinberg disequilibrium and no significant difference in allele frequencies between patients and controls were observed for any variation.
T11 792-913 Sentence denotes In one female patient a p.F366L amino acid polymorphism was found heterozygous, which could not be displayed in controls.
T12 914-1036 Sentence denotes A pathogenic implication of this substitution, which is conserved in primates and rodents, cannot be ruled out completely.
T13 1037-1177 Sentence denotes Because SIDDT is the result of homozygous TSPYL1 mutations, this heterozygous exchange cannot solely explain the sudden death in this child.
T14 1178-1269 Sentence denotes The reported mutation associated with SIDDT (457_458insG) was not detectable in our cohort.
T15 1270-1281 Sentence denotes CONCLUSION:
T16 1282-1382 Sentence denotes No association of sequence variations in the TSPYL1 gene and SIDS has been found in a German cohort.
T17 1383-1517 Sentence denotes Genetic analysis of TSPYL1 seems to be of limited significance in the differential diagnosis of SIDS without dysgenesis of the testes.

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
2757 29-35 GeneOrGeneProduct denotes TSPYL1 NCBIGene:7259
2758 44-72 DiseaseOrPhenotypicFeature denotes sudden infant death syndrome MESH:D013398
2759 86-114 DiseaseOrPhenotypicFeature denotes Sudden infant death syndrome MESH:D013398
2760 116-120 DiseaseOrPhenotypicFeature denotes SIDS MESH:D013398
2761 161-166 DiseaseOrPhenotypicFeature denotes death MESH:D003643
2762 253-311 DiseaseOrPhenotypicFeature denotes sudden infant death with dysgenesis of the testes syndrome MESH:C563856
2763 313-318 DiseaseOrPhenotypicFeature denotes SIDDT MESH:C563856
2764 385-391 GeneOrGeneProduct denotes TSPYL1 NCBIGene:7259
2765 460-466 GeneOrGeneProduct denotes TSPYL1 NCBIGene:7259
2766 470-474 DiseaseOrPhenotypicFeature denotes SIDS MESH:D013398
2767 504-508 DiseaseOrPhenotypicFeature denotes SIDS MESH:D013398
2768 737-745 OrganismTaxon denotes patients NCBITaxon:9606
2769 806-813 OrganismTaxon denotes patient NCBITaxon:9606
2770 816-823 SequenceVariant denotes p.F366L DBSNP:rs140756663
2771 1045-1050 DiseaseOrPhenotypicFeature denotes SIDDT MESH:C563856
2772 1079-1085 GeneOrGeneProduct denotes TSPYL1 NCBIGene:7259
2773 1150-1162 DiseaseOrPhenotypicFeature denotes sudden death MESH:D003645
2774 1216-1221 DiseaseOrPhenotypicFeature denotes SIDDT MESH:C563856
2775 1223-1234 SequenceVariant denotes 457_458insG c|INS|457_458|G
2776 1327-1333 GeneOrGeneProduct denotes TSPYL1 NCBIGene:7259
2777 1343-1347 DiseaseOrPhenotypicFeature denotes SIDS MESH:D013398
2778 1403-1409 GeneOrGeneProduct denotes TSPYL1 NCBIGene:7259
2779 1479-1483 DiseaseOrPhenotypicFeature denotes SIDS MESH:D013398
2780 1492-1516 DiseaseOrPhenotypicFeature denotes dysgenesis of the testes MESH:D013733

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 1025-1035 DiseaseOrPhenotypicFeature denotes completely 0700063

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 816-823 SequenceVariant denotes p.F366L
T2 1227-1234 SequenceVariant denotes 458insG

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 29-35 GeneOrGeneProduct denotes TSPYL1
T2 64-72 GeneOrGeneProduct denotes syndrome
T3 106-114 GeneOrGeneProduct denotes syndrome
T4 116-120 GeneOrGeneProduct denotes SIDS
T5 188-194 GeneOrGeneProduct denotes period
T6 219-225 GeneOrGeneProduct denotes lethal
T7 303-311 GeneOrGeneProduct denotes syndrome
T8 385-391 GeneOrGeneProduct denotes TSPYL1
T9 460-466 GeneOrGeneProduct denotes TSPYL1
T10 470-474 GeneOrGeneProduct denotes SIDS
T11 504-508 GeneOrGeneProduct denotes SIDS
T12 619-629 GeneOrGeneProduct denotes amino acid
T13 824-834 GeneOrGeneProduct denotes amino acid
T14 970-979 GeneOrGeneProduct denotes conserved
T15 1079-1085 GeneOrGeneProduct denotes TSPYL1
T16 1327-1333 GeneOrGeneProduct denotes TSPYL1
T17 1343-1347 GeneOrGeneProduct denotes SIDS
T18 1403-1409 GeneOrGeneProduct denotes TSPYL1
T19 1425-1432 GeneOrGeneProduct denotes limited
T20 1479-1483 GeneOrGeneProduct denotes SIDS

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 29-35 GeneOrGeneProduct denotes TSPYL1
T2 64-72 GeneOrGeneProduct denotes syndrome
T3 106-114 GeneOrGeneProduct denotes syndrome
T4 116-120 GeneOrGeneProduct denotes SIDS
T5 188-194 GeneOrGeneProduct denotes period
T6 219-225 GeneOrGeneProduct denotes lethal
T7 296-302 GeneOrGeneProduct denotes testes
T8 303-311 GeneOrGeneProduct denotes syndrome
T9 368-377 GeneOrGeneProduct denotes mutations
T10 385-391 GeneOrGeneProduct denotes TSPYL1
T11 460-466 GeneOrGeneProduct denotes TSPYL1
T12 470-474 GeneOrGeneProduct denotes SIDS
T13 476-483 GeneOrGeneProduct denotes METHODS
T14 504-508 GeneOrGeneProduct denotes SIDS
T15 509-514 GeneOrGeneProduct denotes cases
T16 603-607 GeneOrGeneProduct denotes them
T17 619-629 GeneOrGeneProduct denotes amino acid
T18 647-652 GeneOrGeneProduct denotes Hardy
T19 717-728 GeneOrGeneProduct denotes frequencies
T20 824-834 GeneOrGeneProduct denotes amino acid
T21 970-979 GeneOrGeneProduct denotes conserved
T22 1021-1024 GeneOrGeneProduct denotes out
T23 1079-1085 GeneOrGeneProduct denotes TSPYL1
T24 1086-1095 GeneOrGeneProduct denotes mutations
T25 1191-1199 GeneOrGeneProduct denotes mutation
T26 1327-1333 GeneOrGeneProduct denotes TSPYL1
T27 1343-1347 GeneOrGeneProduct denotes SIDS
T28 1363-1367 GeneOrGeneProduct denotes in a
T29 1403-1409 GeneOrGeneProduct denotes TSPYL1
T30 1425-1432 GeneOrGeneProduct denotes limited
T31 1479-1483 GeneOrGeneProduct denotes SIDS
T32 1510-1516 GeneOrGeneProduct denotes testes

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 44-72 DiseaseOrPhenotypicFeature denotes sudden infant death syndrome D013398
T2 86-114 DiseaseOrPhenotypicFeature denotes Sudden infant death syndrome D013398
T3 116-120 DiseaseOrPhenotypicFeature denotes SIDS D013398
T4 161-166 DiseaseOrPhenotypicFeature denotes death D003643
T5 253-272 DiseaseOrPhenotypicFeature denotes sudden infant death D013398
T6 303-311 DiseaseOrPhenotypicFeature denotes syndrome D013577
T7 470-474 DiseaseOrPhenotypicFeature denotes SIDS D013398
T8 504-508 DiseaseOrPhenotypicFeature denotes SIDS D013398
T9 1150-1162 DiseaseOrPhenotypicFeature denotes sudden death D003645
T10 1343-1347 DiseaseOrPhenotypicFeature denotes SIDS D013398
T11 1479-1483 DiseaseOrPhenotypicFeature denotes SIDS D013398

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 29-35 GeneOrGeneProduct denotes TSPYL1
T2 188-194 GeneOrGeneProduct denotes period
T3 385-391 GeneOrGeneProduct denotes TSPYL1
T4 460-466 GeneOrGeneProduct denotes TSPYL1
T5 1079-1085 GeneOrGeneProduct denotes TSPYL1
T6 1327-1333 GeneOrGeneProduct denotes TSPYL1
T7 1403-1409 GeneOrGeneProduct denotes TSPYL1

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 64-72 DiseaseOrPhenotypicFeature denotes syndrome 0002254
T2 106-114 DiseaseOrPhenotypicFeature denotes syndrome 0002254
T3 303-311 DiseaseOrPhenotypicFeature denotes syndrome 0002254
T4 313-318 DiseaseOrPhenotypicFeature denotes SIDDT 0012124
T5 1045-1050 DiseaseOrPhenotypicFeature denotes SIDDT 0012124
T6 1171-1176 DiseaseOrPhenotypicFeature denotes child 0017015
T7 1216-1221 DiseaseOrPhenotypicFeature denotes SIDDT 0012124

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 44-72 DiseaseOrPhenotypicFeature denotes sudden infant death syndrome D013398
T2 86-114 DiseaseOrPhenotypicFeature denotes Sudden infant death syndrome D013398
T3 116-120 DiseaseOrPhenotypicFeature denotes SIDS D013398
T4 161-166 DiseaseOrPhenotypicFeature denotes death D003643
T5 253-272 DiseaseOrPhenotypicFeature denotes sudden infant death D013398
T6 278-302 DiseaseOrPhenotypicFeature denotes dysgenesis of the testes DISEASE
T7 303-311 DiseaseOrPhenotypicFeature denotes syndrome D013577
T8 313-318 DiseaseOrPhenotypicFeature denotes SIDDT DISEASE
T9 470-474 DiseaseOrPhenotypicFeature denotes SIDS D013398
T10 504-508 DiseaseOrPhenotypicFeature denotes SIDS D013398
T11 1045-1050 DiseaseOrPhenotypicFeature denotes SIDDT DISEASE
T12 1150-1162 DiseaseOrPhenotypicFeature denotes sudden death D003645
T13 1216-1221 DiseaseOrPhenotypicFeature denotes SIDDT DISEASE
T14 1343-1347 DiseaseOrPhenotypicFeature denotes SIDS D013398
T15 1479-1483 DiseaseOrPhenotypicFeature denotes SIDS D013398
T16 1492-1516 DiseaseOrPhenotypicFeature denotes dysgenesis of the testes DISEASE

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 44-72 DiseaseOrPhenotypicFeature denotes sudden infant death syndrome D013398
T2 86-114 DiseaseOrPhenotypicFeature denotes Sudden infant death syndrome D013398
T3 116-120 DiseaseOrPhenotypicFeature denotes SIDS D013398
T4 253-272 DiseaseOrPhenotypicFeature denotes sudden infant death D013398
T5 278-302 DiseaseOrPhenotypicFeature denotes dysgenesis of the testes DISEASE
T6 313-318 DiseaseOrPhenotypicFeature denotes SIDDT DISEASE
T7 470-474 DiseaseOrPhenotypicFeature denotes SIDS D013398
T8 504-508 DiseaseOrPhenotypicFeature denotes SIDS D013398
T9 1045-1050 DiseaseOrPhenotypicFeature denotes SIDDT DISEASE
T10 1150-1162 DiseaseOrPhenotypicFeature denotes sudden death D003645
T11 1216-1221 DiseaseOrPhenotypicFeature denotes SIDDT DISEASE
T12 1343-1347 DiseaseOrPhenotypicFeature denotes SIDS D013398
T13 1479-1483 DiseaseOrPhenotypicFeature denotes SIDS D013398
T14 1492-1516 DiseaseOrPhenotypicFeature denotes dysgenesis of the testes DISEASE

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 737-745 OrganismTaxon denotes patients
T2 806-813 OrganismTaxon denotes patient
T3 983-991 OrganismTaxon denotes primates
T4 996-1003 OrganismTaxon denotes rodents

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label
T7 1403-1409 GeneOrGeneProduct denotes TSPYL1
T6 1327-1333 GeneOrGeneProduct denotes TSPYL1
T5 1079-1085 GeneOrGeneProduct denotes TSPYL1
T4 460-466 GeneOrGeneProduct denotes TSPYL1
T3 385-391 GeneOrGeneProduct denotes TSPYL1
T2 188-194 GeneOrGeneProduct denotes period
T1 29-35 GeneOrGeneProduct denotes TSPYL1
T14 1492-1516 DiseaseOrPhenotypicFeature denotes dysgenesis of the testes DISEASE
T13 1479-1483 DiseaseOrPhenotypicFeature denotes SIDS D013398
T12 1343-1347 DiseaseOrPhenotypicFeature denotes SIDS D013398
T11 1216-1221 DiseaseOrPhenotypicFeature denotes SIDDT DISEASE
T10 1150-1162 DiseaseOrPhenotypicFeature denotes sudden death D003645
T9 1045-1050 DiseaseOrPhenotypicFeature denotes SIDDT DISEASE
T8 504-508 DiseaseOrPhenotypicFeature denotes SIDS D013398
T61277 470-474 DiseaseOrPhenotypicFeature denotes SIDS D013398
T75032 313-318 DiseaseOrPhenotypicFeature denotes SIDDT DISEASE
T50129 278-302 DiseaseOrPhenotypicFeature denotes dysgenesis of the testes DISEASE
T78254 253-272 DiseaseOrPhenotypicFeature denotes sudden infant death D013398
T32698 116-120 DiseaseOrPhenotypicFeature denotes SIDS D013398
T71099 86-114 DiseaseOrPhenotypicFeature denotes Sudden infant death syndrome D013398
T9031 44-72 DiseaseOrPhenotypicFeature denotes sudden infant death syndrome D013398
T13750 996-1003 OrganismTaxon denotes rodents
T700 983-991 OrganismTaxon denotes primates
T45001 806-813 OrganismTaxon denotes patient
T37124 737-745 OrganismTaxon denotes patients
T30906 1227-1234 SequenceVariant denotes 458insG
T31296 816-823 SequenceVariant denotes p.F366L

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
16418600-0#29#35#gene7259 29-35 gene7259 denotes TSPYL1
16418600-0#44#72#diseaseC0038644 44-72 diseaseC0038644 denotes sudden infant death syndrome
16418600-12#20#26#gene7259 1403-1409 gene7259 denotes TSPYL1
16418600-12#109#119#diseaseC0000768 1492-1502 diseaseC0000768 denotes dysgenesis
16418600-9#42#48#gene7259 1079-1085 gene7259 denotes TSPYL1
16418600-9#8#13#diseaseC1837371 1045-1050 diseaseC1837371 denotes SIDDT
29#35#gene725944#72#diseaseC0038644 16418600-0#29#35#gene7259 16418600-0#44#72#diseaseC0038644 associated_with TSPYL1,sudden infant death syndrome
20#26#gene7259109#119#diseaseC0000768 16418600-12#20#26#gene7259 16418600-12#109#119#diseaseC0000768 associated_with TSPYL1,dysgenesis
42#48#gene72598#13#diseaseC1837371 16418600-9#42#48#gene7259 16418600-9#8#13#diseaseC1837371 associated_with TSPYL1,SIDDT

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 816-823 ProteinMutation:p|SUB|F|366|L denotes p.F366L
T2 1223-1234 DNAMutation:|INS|457_458|G denotes 457_458insG

DisGeNET

Id Subject Object Predicate Lexical cue
T0 29-35 gene:7259 denotes TSPYL1
T1 44-72 disease:C0038644 denotes sudden infant death syndrome
T2 460-466 gene:7259 denotes TSPYL1
T3 470-474 disease:C0038644 denotes SIDS
T4 1079-1085 gene:7259 denotes TSPYL1
T5 1045-1050 disease:C1837371 denotes SIDDT
R1 T0 T1 associated_with TSPYL1,sudden infant death syndrome
R2 T2 T3 associated_with TSPYL1,SIDS
R3 T4 T5 associated_with TSPYL1,SIDDT