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LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-99 Sentence denotes Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome.
T2 100-279 Sentence denotes Wolfram syndrome (WFS) is an autosomal recessive disorder characterized by early onset diabetes mellitus, progressive optic atrophy, sensorineural deafness and diabetes insipidus.
T3 280-389 Sentence denotes Affected individuals may also have renal tract abnormalities as well as neurogical and psychiatric syndromes.
T4 390-475 Sentence denotes WFS1 encoding a transmembrane protein was identified as the gene responsible for WFS.
T5 476-551 Sentence denotes We report herein a Japanese family, of which two members had this syndrome.
T6 552-664 Sentence denotes In the WFS1 gene of these patients, we identified a novel mutation, a nine nucleotide insertion (AFF344-345ins).
T7 665-768 Sentence denotes In addition, one of these patients had preclinical hypopituitarism, which is an unusual feature of WFS.
T8 769-909 Sentence denotes As only the two family members homozygous for the mutation showed WFS, these data support the notion that this mutation is the cause of WFS.

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
2045 26-30 GeneOrGeneProduct denotes WFS1 NCBIGene:7466
2046 41-54 SequenceVariant denotes AFF344-345ins p|INS|344_345|AFF
2047 68-76 OrganismTaxon denotes patients NCBITaxon:9606
2048 82-98 DiseaseOrPhenotypicFeature denotes Wolfram syndrome MESH:D014929
2049 100-116 DiseaseOrPhenotypicFeature denotes Wolfram syndrome MESH:D014929
2050 118-121 DiseaseOrPhenotypicFeature denotes WFS MESH:D014929
2051 129-157 DiseaseOrPhenotypicFeature denotes autosomal recessive disorder MESH:D030342
2052 187-204 DiseaseOrPhenotypicFeature denotes diabetes mellitus MESH:D003920
2053 218-231 DiseaseOrPhenotypicFeature denotes optic atrophy MESH:D009896
2054 233-255 DiseaseOrPhenotypicFeature denotes sensorineural deafness MESH:D006319
2055 260-278 DiseaseOrPhenotypicFeature denotes diabetes insipidus MESH:D003919
2056 315-340 DiseaseOrPhenotypicFeature denotes renal tract abnormalities MESH:D007674
2057 367-388 DiseaseOrPhenotypicFeature denotes psychiatric syndromes MESH:D001523
2058 390-394 GeneOrGeneProduct denotes WFS1 NCBIGene:7466
2059 471-474 DiseaseOrPhenotypicFeature denotes WFS MESH:D014929
2060 559-563 GeneOrGeneProduct denotes WFS1 NCBIGene:7466
2061 578-586 OrganismTaxon denotes patients NCBITaxon:9606
2062 622-647 SequenceVariant denotes nine nucleotide insertion c|INS||9
2063 649-662 SequenceVariant denotes AFF344-345ins p|INS|344_345|AFF
2064 691-699 OrganismTaxon denotes patients NCBITaxon:9606
2065 716-731 DiseaseOrPhenotypicFeature denotes hypopituitarism MESH:D007018
2066 764-767 DiseaseOrPhenotypicFeature denotes WFS MESH:D014929
2067 835-838 DiseaseOrPhenotypicFeature denotes WFS MESH:D014929
2068 905-908 DiseaseOrPhenotypicFeature denotes WFS MESH:D014929

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 82-98 DiseaseOrPhenotypicFeature denotes Wolfram syndrome 0018105
T2 100-116 DiseaseOrPhenotypicFeature denotes Wolfram syndrome 0018105
T3 187-204 DiseaseOrPhenotypicFeature denotes diabetes mellitus 0005015
T4 218-231 DiseaseOrPhenotypicFeature denotes optic atrophy 0003608
T5 260-278 DiseaseOrPhenotypicFeature denotes diabetes insipidus 0004782
T6 716-731 DiseaseOrPhenotypicFeature denotes hypopituitarism 0005152

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 20-25 GeneOrGeneProduct denotes novel
T2 26-30 GeneOrGeneProduct denotes WFS1
T3 31-39 GeneOrGeneProduct denotes mutation
T4 90-98 GeneOrGeneProduct denotes syndrome
T5 108-116 GeneOrGeneProduct denotes syndrome
T6 175-180 GeneOrGeneProduct denotes early
T7 187-195 GeneOrGeneProduct denotes diabetes
T8 247-255 GeneOrGeneProduct denotes deafness
T9 260-268 GeneOrGeneProduct denotes diabetes
T10 379-388 GeneOrGeneProduct denotes syndromes
T11 390-394 GeneOrGeneProduct denotes WFS1
T12 406-427 GeneOrGeneProduct denotes transmembrane protein
T13 542-550 GeneOrGeneProduct denotes syndrome
T14 559-563 GeneOrGeneProduct denotes WFS1
T15 604-609 GeneOrGeneProduct denotes novel
T16 610-618 GeneOrGeneProduct denotes mutation
T17 622-626 GeneOrGeneProduct denotes nine
T18 819-827 GeneOrGeneProduct denotes mutation
T19 880-888 GeneOrGeneProduct denotes mutation

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 20-25 GeneOrGeneProduct denotes novel
T2 26-30 GeneOrGeneProduct denotes WFS1
T3 90-98 GeneOrGeneProduct denotes syndrome
T4 108-116 GeneOrGeneProduct denotes syndrome
T5 175-180 GeneOrGeneProduct denotes early
T6 187-195 GeneOrGeneProduct denotes diabetes
T7 260-268 GeneOrGeneProduct denotes diabetes
T8 379-388 GeneOrGeneProduct denotes syndromes
T9 390-394 GeneOrGeneProduct denotes WFS1
T10 406-427 GeneOrGeneProduct denotes transmembrane protein
T11 542-550 GeneOrGeneProduct denotes syndrome
T12 559-563 GeneOrGeneProduct denotes WFS1
T13 604-609 GeneOrGeneProduct denotes novel

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 82-98 DiseaseOrPhenotypicFeature denotes Wolfram syndrome D014929
T2 100-116 DiseaseOrPhenotypicFeature denotes Wolfram syndrome D014929
T3 118-121 DiseaseOrPhenotypicFeature denotes WFS D014929
T4 129-157 DiseaseOrPhenotypicFeature denotes autosomal recessive disorder DISEASE
T5 187-204 DiseaseOrPhenotypicFeature denotes diabetes mellitus D003920
T6 218-231 DiseaseOrPhenotypicFeature denotes optic atrophy D009896
T7 247-255 DiseaseOrPhenotypicFeature denotes deafness D003638
T8 260-278 DiseaseOrPhenotypicFeature denotes diabetes insipidus D003919
T9 379-388 DiseaseOrPhenotypicFeature denotes syndromes D013577
T10 471-474 DiseaseOrPhenotypicFeature denotes WFS D014929
T11 542-550 DiseaseOrPhenotypicFeature denotes syndrome D013577
T12 716-731 DiseaseOrPhenotypicFeature denotes hypopituitarism D007018
T13 764-767 DiseaseOrPhenotypicFeature denotes WFS D014929
T14 835-838 DiseaseOrPhenotypicFeature denotes WFS D014929
T15 905-908 DiseaseOrPhenotypicFeature denotes WFS D014929

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 26-30 GeneOrGeneProduct denotes WFS1
T2 390-394 GeneOrGeneProduct denotes WFS1
T3 406-427 GeneOrGeneProduct denotes transmembrane protein
T4 559-563 GeneOrGeneProduct denotes WFS1

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 26-30 DiseaseOrPhenotypicFeature denotes WFS1 0009101
T2 82-98 DiseaseOrPhenotypicFeature denotes Wolfram syndrome 0018105
T3 100-116 DiseaseOrPhenotypicFeature denotes Wolfram syndrome 0018105
T4 118-121 DiseaseOrPhenotypicFeature denotes WFS 0018105|0006015
T6 187-204 DiseaseOrPhenotypicFeature denotes diabetes mellitus 0005015
T7 218-231 DiseaseOrPhenotypicFeature denotes optic atrophy 0003608
T8 233-255 DiseaseOrPhenotypicFeature denotes sensorineural deafness 0020678|0010576
T10 260-278 DiseaseOrPhenotypicFeature denotes diabetes insipidus 0004782
T11 379-388 DiseaseOrPhenotypicFeature denotes syndromes 0002254
T12 390-394 DiseaseOrPhenotypicFeature denotes WFS1 0009101
T13 471-474 DiseaseOrPhenotypicFeature denotes WFS 0018105|0006015
T15 542-550 DiseaseOrPhenotypicFeature denotes syndrome 0002254
T16 559-563 DiseaseOrPhenotypicFeature denotes WFS1 0009101
T17 716-731 DiseaseOrPhenotypicFeature denotes hypopituitarism 0005152
T18 764-767 DiseaseOrPhenotypicFeature denotes WFS 0018105|0006015
T20 835-838 DiseaseOrPhenotypicFeature denotes WFS 0018105|0006015
T22 905-908 DiseaseOrPhenotypicFeature denotes WFS 0018105|0006015

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 82-98 DiseaseOrPhenotypicFeature denotes Wolfram syndrome D014929
T2 100-116 DiseaseOrPhenotypicFeature denotes Wolfram syndrome D014929
T3 118-121 DiseaseOrPhenotypicFeature denotes WFS D014929
T4 129-157 DiseaseOrPhenotypicFeature denotes autosomal recessive disorder DISEASE
T5 187-204 DiseaseOrPhenotypicFeature denotes diabetes mellitus D003920
T6 218-231 DiseaseOrPhenotypicFeature denotes optic atrophy D009896
T7 247-255 DiseaseOrPhenotypicFeature denotes deafness D003638
T8 260-278 DiseaseOrPhenotypicFeature denotes diabetes insipidus D003919
T9 315-340 DiseaseOrPhenotypicFeature denotes renal tract abnormalities DISEASE
T10 367-378 DiseaseOrPhenotypicFeature denotes psychiatric DISEASE
T11 379-388 DiseaseOrPhenotypicFeature denotes syndromes D013577
T12 471-474 DiseaseOrPhenotypicFeature denotes WFS D014929
T13 542-550 DiseaseOrPhenotypicFeature denotes syndrome D013577
T14 716-731 DiseaseOrPhenotypicFeature denotes hypopituitarism D007018
T15 764-767 DiseaseOrPhenotypicFeature denotes WFS D014929
T16 835-838 DiseaseOrPhenotypicFeature denotes WFS D014929
T17 905-908 DiseaseOrPhenotypicFeature denotes WFS D014929

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 82-98 DiseaseOrPhenotypicFeature denotes Wolfram syndrome D014929
T2 100-116 DiseaseOrPhenotypicFeature denotes Wolfram syndrome D014929
T3 118-121 DiseaseOrPhenotypicFeature denotes WFS D014929
T4 129-157 DiseaseOrPhenotypicFeature denotes autosomal recessive disorder DISEASE
T5 187-204 DiseaseOrPhenotypicFeature denotes diabetes mellitus D003920
T6 218-231 DiseaseOrPhenotypicFeature denotes optic atrophy D009896
T7 247-255 DiseaseOrPhenotypicFeature denotes deafness D003638
T8 260-278 DiseaseOrPhenotypicFeature denotes diabetes insipidus D003919
T9 315-340 DiseaseOrPhenotypicFeature denotes renal tract abnormalities DISEASE
T10 367-378 DiseaseOrPhenotypicFeature denotes psychiatric DISEASE
T11 471-474 DiseaseOrPhenotypicFeature denotes WFS D014929
T12 716-731 DiseaseOrPhenotypicFeature denotes hypopituitarism D007018
T13 764-767 DiseaseOrPhenotypicFeature denotes WFS D014929
T14 835-838 DiseaseOrPhenotypicFeature denotes WFS D014929
T15 905-908 DiseaseOrPhenotypicFeature denotes WFS D014929

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 82-89 ChemicalEntity denotes Wolfram D014414
T2 100-107 ChemicalEntity denotes Wolfram D014414

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 68-76 OrganismTaxon denotes patients
T2 578-586 OrganismTaxon denotes patients
T3 691-699 OrganismTaxon denotes patients

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T2 100-107 ChemicalEntity denotes Wolfram D014414
T1 82-89 ChemicalEntity denotes Wolfram D014414
T4 559-563 GeneOrGeneProduct denotes WFS1
T3 406-427 GeneOrGeneProduct denotes transmembrane protein
T12871 390-394 GeneOrGeneProduct denotes WFS1
T10251 26-30 GeneOrGeneProduct denotes WFS1
T15 905-908 DiseaseOrPhenotypicFeature denotes WFS D014929
T14 835-838 DiseaseOrPhenotypicFeature denotes WFS D014929
T13 764-767 DiseaseOrPhenotypicFeature denotes WFS D014929
T12 716-731 DiseaseOrPhenotypicFeature denotes hypopituitarism D007018
T11 471-474 DiseaseOrPhenotypicFeature denotes WFS D014929
T10 367-378 DiseaseOrPhenotypicFeature denotes psychiatric DISEASE
T9 315-340 DiseaseOrPhenotypicFeature denotes renal tract abnormalities DISEASE
T8 260-278 DiseaseOrPhenotypicFeature denotes diabetes insipidus D003919
T7 247-255 DiseaseOrPhenotypicFeature denotes deafness D003638
T6 218-231 DiseaseOrPhenotypicFeature denotes optic atrophy D009896
T5 187-204 DiseaseOrPhenotypicFeature denotes diabetes mellitus D003920
T86911 129-157 DiseaseOrPhenotypicFeature denotes autosomal recessive disorder DISEASE
T87043 118-121 DiseaseOrPhenotypicFeature denotes WFS D014929
T2594 100-116 DiseaseOrPhenotypicFeature denotes Wolfram syndrome D014929
T66029 82-98 DiseaseOrPhenotypicFeature denotes Wolfram syndrome D014929
T49754 691-699 OrganismTaxon denotes patients
T92757 578-586 OrganismTaxon denotes patients
T27297 68-76 OrganismTaxon denotes patients

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-99 Sentence denotes Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome.
TextSentencer_T2 100-279 Sentence denotes Wolfram syndrome (WFS) is an autosomal recessive disorder characterized by early onset diabetes mellitus, progressive optic atrophy, sensorineural deafness and diabetes insipidus.
TextSentencer_T3 280-389 Sentence denotes Affected individuals may also have renal tract abnormalities as well as neurogical and psychiatric syndromes.
TextSentencer_T4 390-475 Sentence denotes WFS1 encoding a transmembrane protein was identified as the gene responsible for WFS.
TextSentencer_T5 476-551 Sentence denotes We report herein a Japanese family, of which two members had this syndrome.
TextSentencer_T6 552-664 Sentence denotes In the WFS1 gene of these patients, we identified a novel mutation, a nine nucleotide insertion (AFF344-345ins).
TextSentencer_T7 665-768 Sentence denotes In addition, one of these patients had preclinical hypopituitarism, which is an unusual feature of WFS.
TextSentencer_T8 769-909 Sentence denotes As only the two family members homozygous for the mutation showed WFS, these data support the notion that this mutation is the cause of WFS.
T1 0-99 Sentence denotes Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome.
T2 100-279 Sentence denotes Wolfram syndrome (WFS) is an autosomal recessive disorder characterized by early onset diabetes mellitus, progressive optic atrophy, sensorineural deafness and diabetes insipidus.
T3 280-389 Sentence denotes Affected individuals may also have renal tract abnormalities as well as neurogical and psychiatric syndromes.
T4 390-475 Sentence denotes WFS1 encoding a transmembrane protein was identified as the gene responsible for WFS.
T5 476-551 Sentence denotes We report herein a Japanese family, of which two members had this syndrome.
T6 552-664 Sentence denotes In the WFS1 gene of these patients, we identified a novel mutation, a nine nucleotide insertion (AFF344-345ins).
T7 665-768 Sentence denotes In addition, one of these patients had preclinical hypopituitarism, which is an unusual feature of WFS.
T8 769-909 Sentence denotes As only the two family members homozygous for the mutation showed WFS, these data support the notion that this mutation is the cause of WFS.

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
16005363-0#26#30#gene7466 26-30 gene7466 denotes WFS1
16005363-0#82#98#diseaseC0043207 82-98 diseaseC0043207 denotes Wolfram syndrome
26#30#gene746682#98#diseaseC0043207 16005363-0#26#30#gene7466 16005363-0#82#98#diseaseC0043207 associated_with WFS1,Wolfram syndrome

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 187-204 HP:0000819 denotes diabetes mellitus
AB2 218-231 HP:0000648 denotes optic atrophy
AB3 260-278 HP:0000873 denotes diabetes insipidus
AB4 716-731 HP:0040075 denotes hypopituitarism

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 100-116 ORDO:3463 denotes Wolfram syndrome
TI1 82-98 ORDO:3463 denotes Wolfram syndrome

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 41-54 ProteinMutation:p|INS|344_345|AFF denotes AFF344-345ins
T2 649-662 ProteinMutation:p|INS|344_345|AFF denotes AFF344-345ins

DisGeNET

Id Subject Object Predicate Lexical cue
T0 26-30 gene:7466 denotes WFS1
T1 82-98 disease:C0043207 denotes Wolfram syndrome
R1 T0 T1 associated_with WFS1,Wolfram syndrome