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LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-107 Sentence denotes Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.
T2 108-302 Sentence denotes Hypokalaemic periodic paralysis (HypoPP) is an autosomal dominant disorder, which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level.
T3 303-524 Sentence denotes A major disease-causing gene for HypoPP has been identified as CACNA1S, which encodes the skeletal muscle calcium channel alpha-subunit with four transmembrane domains (I-IV), each with six transmembrane segments (S1-S6).
T4 525-635 Sentence denotes To date, all CACNA1S mutations identified in HypoPP patients are located within the voltage-sensor S4 segment.
T5 636-746 Sentence denotes In this study we report a novel CACNA1S mutation in a new region of the protein, the S3 segment of domain III.
T6 747-816 Sentence denotes We characterized a four-generation South American family with HypoPP.
T7 817-961 Sentence denotes Genetic analysis identified a novel V876E mutation in all HypoPP patients in the family, but not in normal family members or 160 control people.
T8 962-1152 Sentence denotes Clinical analysis indicates that mutation V876E is associated with a severe outcome as characterized by a very early age of onset, complete penetrance and a severe prognosis including death.
T9 1153-1270 Sentence denotes These results identify a new mutation in CACNA1S and expand the spectrum of CACNA1S mutations associated with HypoPP.

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
6493 6-13 GeneOrGeneProduct denotes CACNA1S NCBIGene:779
6494 49-79 DiseaseOrPhenotypicFeature denotes hypokalemic periodic paralysis MESH:D020514
6495 108-139 DiseaseOrPhenotypicFeature denotes Hypokalaemic periodic paralysis MESH:D020514
6496 141-147 DiseaseOrPhenotypicFeature denotes HypoPP MESH:D020514
6497 155-182 DiseaseOrPhenotypicFeature denotes autosomal dominant disorder MESH:D030342
6498 230-245 DiseaseOrPhenotypicFeature denotes muscle weakness MESH:D018908
6499 286-295 ChemicalEntity denotes potassium MESH:D011188
6500 336-342 DiseaseOrPhenotypicFeature denotes HypoPP MESH:D020514
6501 366-373 GeneOrGeneProduct denotes CACNA1S NCBIGene:779
6502 393-438 GeneOrGeneProduct denotes skeletal muscle calcium channel alpha-subunit NCBIGene:779
6503 538-545 GeneOrGeneProduct denotes CACNA1S NCBIGene:779
6504 570-576 DiseaseOrPhenotypicFeature denotes HypoPP MESH:D020514
6505 577-585 OrganismTaxon denotes patients NCBITaxon:9606
6506 668-675 GeneOrGeneProduct denotes CACNA1S NCBIGene:779
6507 809-815 DiseaseOrPhenotypicFeature denotes HypoPP MESH:D020514
6508 853-858 SequenceVariant denotes V876E DBSNP:rs267606698
6509 875-881 DiseaseOrPhenotypicFeature denotes HypoPP MESH:D020514
6510 882-890 OrganismTaxon denotes patients NCBITaxon:9606
6511 1004-1009 SequenceVariant denotes V876E DBSNP:rs267606698
6512 1146-1151 DiseaseOrPhenotypicFeature denotes death MESH:D003643
6513 1194-1201 GeneOrGeneProduct denotes CACNA1S NCBIGene:779
6514 1229-1236 GeneOrGeneProduct denotes CACNA1S NCBIGene:779
6515 1263-1269 DiseaseOrPhenotypicFeature denotes HypoPP MESH:D020514

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 49-79 DiseaseOrPhenotypicFeature denotes hypokalemic periodic paralysis 0008223
T2 61-79 DiseaseOrPhenotypicFeature denotes periodic paralysis 0016122
T3 121-139 DiseaseOrPhenotypicFeature denotes periodic paralysis 0016122
T4 1093-1101 DiseaseOrPhenotypicFeature denotes complete 0700063

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 853-858 SequenceVariant denotes V876E
T2 1004-1009 SequenceVariant denotes V876E

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 0-5 GeneOrGeneProduct denotes Novel
T2 6-13 GeneOrGeneProduct denotes CACNA1S
T3 14-22 GeneOrGeneProduct denotes mutation
T4 61-69 GeneOrGeneProduct denotes periodic
T5 80-84 GeneOrGeneProduct denotes in a
T6 121-129 GeneOrGeneProduct denotes periodic
T7 141-147 GeneOrGeneProduct denotes HypoPP
T8 210-218 GeneOrGeneProduct denotes periodic
T9 230-236 GeneOrGeneProduct denotes muscle
T10 237-245 GeneOrGeneProduct denotes weakness
T11 286-301 GeneOrGeneProduct denotes potassium level
T12 305-310 GeneOrGeneProduct denotes major
T13 336-342 GeneOrGeneProduct denotes HypoPP
T14 366-373 GeneOrGeneProduct denotes CACNA1S
T15 393-408 GeneOrGeneProduct denotes skeletal muscle
T16 409-424 GeneOrGeneProduct denotes calcium channel
T17 425-438 GeneOrGeneProduct denotes alpha-subunit
T18 449-462 GeneOrGeneProduct denotes transmembrane
T19 493-506 GeneOrGeneProduct denotes transmembrane
T20 534-537 GeneOrGeneProduct denotes all
T21 538-545 GeneOrGeneProduct denotes CACNA1S
T22 546-555 GeneOrGeneProduct denotes mutations
T23 570-576 GeneOrGeneProduct denotes HypoPP
T24 662-667 GeneOrGeneProduct denotes novel
T25 668-675 GeneOrGeneProduct denotes CACNA1S
T26 676-684 GeneOrGeneProduct denotes mutation
T27 708-715 GeneOrGeneProduct denotes protein
T28 742-745 GeneOrGeneProduct denotes III
T29 809-815 GeneOrGeneProduct denotes HypoPP
T30 847-852 GeneOrGeneProduct denotes novel
T31 859-867 GeneOrGeneProduct denotes mutation
T32 871-874 GeneOrGeneProduct denotes all
T33 875-881 GeneOrGeneProduct denotes HypoPP
T34 990-1003 GeneOrGeneProduct denotes that mutation
T35 1073-1078 GeneOrGeneProduct denotes early
T36 1182-1190 GeneOrGeneProduct denotes mutation
T37 1194-1201 GeneOrGeneProduct denotes CACNA1S
T38 1206-1212 GeneOrGeneProduct denotes expand
T39 1229-1236 GeneOrGeneProduct denotes CACNA1S
T40 1237-1246 GeneOrGeneProduct denotes mutations
T41 1263-1269 GeneOrGeneProduct denotes HypoPP

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 0-5 GeneOrGeneProduct denotes Novel
T2 6-13 GeneOrGeneProduct denotes CACNA1S
T3 141-147 GeneOrGeneProduct denotes HypoPP
T4 230-236 GeneOrGeneProduct denotes muscle
T5 286-301 GeneOrGeneProduct denotes potassium level
T6 305-310 GeneOrGeneProduct denotes major
T7 336-342 GeneOrGeneProduct denotes HypoPP
T8 366-373 GeneOrGeneProduct denotes CACNA1S
T9 393-408 GeneOrGeneProduct denotes skeletal muscle
T10 409-424 GeneOrGeneProduct denotes calcium channel
T11 425-438 GeneOrGeneProduct denotes alpha-subunit
T12 449-462 GeneOrGeneProduct denotes transmembrane
T13 493-506 GeneOrGeneProduct denotes transmembrane
T14 538-545 GeneOrGeneProduct denotes CACNA1S
T15 570-576 GeneOrGeneProduct denotes HypoPP
T16 662-667 GeneOrGeneProduct denotes novel
T17 668-675 GeneOrGeneProduct denotes CACNA1S
T18 708-715 GeneOrGeneProduct denotes protein
T19 809-815 GeneOrGeneProduct denotes HypoPP
T20 847-852 GeneOrGeneProduct denotes novel
T21 875-881 GeneOrGeneProduct denotes HypoPP
T22 1073-1078 GeneOrGeneProduct denotes early
T23 1194-1201 GeneOrGeneProduct denotes CACNA1S
T24 1206-1212 GeneOrGeneProduct denotes expand
T25 1229-1236 GeneOrGeneProduct denotes CACNA1S
T26 1263-1269 GeneOrGeneProduct denotes HypoPP

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 49-79 DiseaseOrPhenotypicFeature denotes hypokalemic periodic paralysis D020514
T2 130-139 DiseaseOrPhenotypicFeature denotes paralysis D010243
T3 141-147 DiseaseOrPhenotypicFeature denotes HypoPP D020514
T4 155-182 DiseaseOrPhenotypicFeature denotes autosomal dominant disorder DISEASE
T5 230-245 DiseaseOrPhenotypicFeature denotes muscle weakness D018908
T6 311-318 DiseaseOrPhenotypicFeature denotes disease D004194
T7 336-342 DiseaseOrPhenotypicFeature denotes HypoPP D020514
T8 570-576 DiseaseOrPhenotypicFeature denotes HypoPP D020514
T9 809-815 DiseaseOrPhenotypicFeature denotes HypoPP D020514
T10 875-881 DiseaseOrPhenotypicFeature denotes HypoPP D020514
T11 1146-1151 DiseaseOrPhenotypicFeature denotes death D003643
T12 1263-1269 DiseaseOrPhenotypicFeature denotes HypoPP D020514

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 6-13 GeneOrGeneProduct denotes CACNA1S
T2 366-373 GeneOrGeneProduct denotes CACNA1S
T3 409-424 GeneOrGeneProduct denotes calcium channel
T4 425-438 GeneOrGeneProduct denotes alpha-subunit
T5 449-470 GeneOrGeneProduct denotes transmembrane domains
T6 538-545 GeneOrGeneProduct denotes CACNA1S
T7 668-675 GeneOrGeneProduct denotes CACNA1S
T8 1194-1201 GeneOrGeneProduct denotes CACNA1S
T9 1229-1236 GeneOrGeneProduct denotes CACNA1S

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 49-79 DiseaseOrPhenotypicFeature denotes hypokalemic periodic paralysis 0008223
T2 121-139 DiseaseOrPhenotypicFeature denotes periodic paralysis 0016122
T3 141-147 DiseaseOrPhenotypicFeature denotes HypoPP 0008223
T4 336-342 DiseaseOrPhenotypicFeature denotes HypoPP 0008223
T5 570-576 DiseaseOrPhenotypicFeature denotes HypoPP 0008223
T6 809-815 DiseaseOrPhenotypicFeature denotes HypoPP 0008223
T7 875-881 DiseaseOrPhenotypicFeature denotes HypoPP 0008223
T8 1263-1269 DiseaseOrPhenotypicFeature denotes HypoPP 0008223

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 49-79 DiseaseOrPhenotypicFeature denotes hypokalemic periodic paralysis D020514
T2 108-139 DiseaseOrPhenotypicFeature denotes Hypokalaemic periodic paralysis DISEASE
T3 141-147 DiseaseOrPhenotypicFeature denotes HypoPP D020514|DISEASE
T5 155-182 DiseaseOrPhenotypicFeature denotes autosomal dominant disorder DISEASE
T6 230-245 DiseaseOrPhenotypicFeature denotes muscle weakness D018908
T7 311-318 DiseaseOrPhenotypicFeature denotes disease D004194
T8 336-342 DiseaseOrPhenotypicFeature denotes HypoPP D020514|DISEASE
T10 570-576 DiseaseOrPhenotypicFeature denotes HypoPP D020514|DISEASE
T12 809-815 DiseaseOrPhenotypicFeature denotes HypoPP D020514|DISEASE
T14 875-881 DiseaseOrPhenotypicFeature denotes HypoPP D020514|DISEASE
T16 1146-1151 DiseaseOrPhenotypicFeature denotes death D003643
T17 1263-1269 DiseaseOrPhenotypicFeature denotes HypoPP D020514|DISEASE

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 49-79 DiseaseOrPhenotypicFeature denotes hypokalemic periodic paralysis D020514
T2 108-139 DiseaseOrPhenotypicFeature denotes Hypokalaemic periodic paralysis DISEASE
T3 141-147 DiseaseOrPhenotypicFeature denotes HypoPP D020514|DISEASE
T5 155-182 DiseaseOrPhenotypicFeature denotes autosomal dominant disorder DISEASE
T6 230-245 DiseaseOrPhenotypicFeature denotes muscle weakness D018908
T7 336-342 DiseaseOrPhenotypicFeature denotes HypoPP D020514|DISEASE
T9 570-576 DiseaseOrPhenotypicFeature denotes HypoPP D020514|DISEASE
T11 809-815 DiseaseOrPhenotypicFeature denotes HypoPP D020514|DISEASE
T13 875-881 DiseaseOrPhenotypicFeature denotes HypoPP D020514|DISEASE
T15 1263-1269 DiseaseOrPhenotypicFeature denotes HypoPP D020514|DISEASE

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 286-295 ChemicalEntity denotes potassium D011188|http://purl.obolibrary.org/obo/CHEBI_26216
T3 409-416 ChemicalEntity denotes calcium D002118|http://purl.obolibrary.org/obo/CHEBI_29320|http://purl.obolibrary.org/obo/CHEBI_22984

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 577-585 OrganismTaxon denotes patients
T2 882-890 OrganismTaxon denotes patients

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T3 409-416 ChemicalEntity denotes calcium http://purl.obolibrary.org/obo/CHEBI_22984|http://purl.obolibrary.org/obo/CHEBI_29320|D002118
T1 286-295 ChemicalEntity denotes potassium http://purl.obolibrary.org/obo/CHEBI_26216|D011188
T9 1229-1236 GeneOrGeneProduct denotes CACNA1S
T8 1194-1201 GeneOrGeneProduct denotes CACNA1S
T7 668-675 GeneOrGeneProduct denotes CACNA1S
T6 538-545 GeneOrGeneProduct denotes CACNA1S
T5 449-470 GeneOrGeneProduct denotes transmembrane domains
T4 425-438 GeneOrGeneProduct denotes alpha-subunit
T52863 409-424 GeneOrGeneProduct denotes calcium channel
T2 366-373 GeneOrGeneProduct denotes CACNA1S
T49742 6-13 GeneOrGeneProduct denotes CACNA1S
T15 1263-1269 DiseaseOrPhenotypicFeature denotes HypoPP DISEASE|D020514
T13 875-881 DiseaseOrPhenotypicFeature denotes HypoPP DISEASE|D020514
T11 809-815 DiseaseOrPhenotypicFeature denotes HypoPP DISEASE|D020514
T15464 570-576 DiseaseOrPhenotypicFeature denotes HypoPP DISEASE|D020514
T8935 336-342 DiseaseOrPhenotypicFeature denotes HypoPP DISEASE|D020514
T93036 230-245 DiseaseOrPhenotypicFeature denotes muscle weakness D018908
T45610 155-182 DiseaseOrPhenotypicFeature denotes autosomal dominant disorder DISEASE
T31544 141-147 DiseaseOrPhenotypicFeature denotes HypoPP DISEASE|D020514
T32264 108-139 DiseaseOrPhenotypicFeature denotes Hypokalaemic periodic paralysis DISEASE
T56290 49-79 DiseaseOrPhenotypicFeature denotes hypokalemic periodic paralysis D020514
T87225 882-890 OrganismTaxon denotes patients
T48913 577-585 OrganismTaxon denotes patients
T73961 1004-1009 SequenceVariant denotes V876E
T41312 853-858 SequenceVariant denotes V876E

DisGeNET

Id Subject Object Predicate Lexical cue
T0 6-13 gene:779 denotes CACNA1S
T1 49-79 disease:C0238358 denotes hypokalemic periodic paralysis
T2 6-13 gene:779 denotes CACNA1S
T3 49-79 disease:C3714580 denotes hypokalemic periodic paralysis
T4 366-373 gene:779 denotes CACNA1S
T5 336-342 disease:C0238358 denotes HypoPP
T6 1229-1236 gene:779 denotes CACNA1S
T7 1263-1269 disease:C0238358 denotes HypoPP
T8 1194-1201 gene:779 denotes CACNA1S
T9 1263-1269 disease:C0238358 denotes HypoPP
R1 T0 T1 associated_with CACNA1S,hypokalemic periodic paralysis
R2 T2 T3 associated_with CACNA1S,hypokalemic periodic paralysis
R3 T4 T5 associated_with CACNA1S,HypoPP
R4 T6 T7 associated_with CACNA1S,HypoPP
R5 T8 T9 associated_with CACNA1S,HypoPP

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
19779499-0#6#13#gene779 6-13 gene779 denotes CACNA1S
19779499-0#49#79#diseaseC0238358 49-79 diseaseC0238358 denotes hypokalemic periodic paralysis
19779499-0#49#79#diseaseC3714580 49-79 diseaseC3714580 denotes hypokalemic periodic paralysis
6#13#gene77949#79#diseaseC0238358 19779499-0#6#13#gene779 19779499-0#49#79#diseaseC0238358 associated_with CACNA1S,hypokalemic periodic paralysis
6#13#gene77949#79#diseaseC3714580 19779499-0#6#13#gene779 19779499-0#49#79#diseaseC3714580 associated_with CACNA1S,hypokalemic periodic paralysis