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PubMed:15122711 JSONTXT

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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
15122711_0 730-739 ProteinMutation denotes Ala467Thr rs113994095

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
733 0-4 GeneOrGeneProduct denotes POLG NCBIGene:5428
734 31-47 DiseaseOrPhenotypicFeature denotes Alpers' syndrome MESH:D002549
735 52-79 DiseaseOrPhenotypicFeature denotes mitochondrial DNA depletion MESH:D028361
736 81-97 DiseaseOrPhenotypicFeature denotes Alpers' syndrome MESH:D002549
737 109-130 DiseaseOrPhenotypicFeature denotes neurogenetic disorder MESH:D009422
738 215-242 DiseaseOrPhenotypicFeature denotes mitochondrial DNA depletion MESH:D028361
739 297-317 GeneOrGeneProduct denotes DNA polymerase gamma NCBIGene:5428
740 319-323 GeneOrGeneProduct denotes POLG NCBIGene:5428
741 356-364 DiseaseOrPhenotypicFeature denotes seizures MESH:D012640
742 366-383 DiseaseOrPhenotypicFeature denotes neurodegeneration MESH:D019636
743 389-402 DiseaseOrPhenotypicFeature denotes liver disease MESH:D008107
744 434-450 DiseaseOrPhenotypicFeature denotes Alpers' syndrome MESH:D002549
745 531-535 GeneOrGeneProduct denotes POLG NCBIGene:5428
746 556-566 SequenceVariant denotes Glu873Stop DBSNP:rs121918047
747 689-695 SequenceVariant denotes G1681A DBSNP:rs113994095
748 730-739 SequenceVariant denotes Ala467Thr DBSNP:rs113994095
749 756-760 GeneOrGeneProduct denotes POLG NCBIGene:5428

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-80 Sentence denotes POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
T2 81-170 Sentence denotes Alpers' syndrome is a fatal neurogenetic disorder first described more than 70 years ago.
T3 171-403 Sentence denotes It is an autosomal recessive, developmental mitochondrial DNA depletion disorder characterized by deficiency in mitochondrial DNA polymerase gamma (POLG) catalytic activity, refractory seizures, neurodegeneration, and liver disease.
T4 404-630 Sentence denotes In two unrelated pedigrees of Alpers' syndrome, each affected child was found to carry a homozygous mutation in exon 17 of the POLG locus that led to a Glu873Stop mutation just upstream of the polymerase domain of the protein.
T5 631-802 Sentence denotes In addition, each affected child was heterozygous for the G1681A mutation in exon 7 that led to an Ala467Thr substitution in POLG, within the linker region of the protein.

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 39-79 DiseaseOrPhenotypicFeature denotes syndrome and mitochondrial DNA depletion 0018158
T2 389-402 DiseaseOrPhenotypicFeature denotes liver disease 0005154

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 556-565 SequenceVariant denotes Glu873Sto
T2 689-695 SequenceVariant denotes G1681A
T3 730-739 SequenceVariant denotes Ala467Thr

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 0-4 GeneOrGeneProduct denotes POLG
T2 5-14 GeneOrGeneProduct denotes mutations
T3 39-47 GeneOrGeneProduct denotes syndrome
T4 52-65 GeneOrGeneProduct denotes mitochondrial
T5 70-79 GeneOrGeneProduct denotes depletion
T6 89-97 GeneOrGeneProduct denotes syndrome
T7 160-165 GeneOrGeneProduct denotes years
T8 215-228 GeneOrGeneProduct denotes mitochondrial
T9 233-242 GeneOrGeneProduct denotes depletion
T10 283-317 GeneOrGeneProduct denotes mitochondrial DNA polymerase gamma
T11 319-323 GeneOrGeneProduct denotes POLG
T12 325-343 GeneOrGeneProduct denotes catalytic activity
T13 356-364 GeneOrGeneProduct denotes seizures
T14 389-394 GeneOrGeneProduct denotes liver
T15 442-450 GeneOrGeneProduct denotes syndrome
T16 504-512 GeneOrGeneProduct denotes mutation
T17 531-535 GeneOrGeneProduct denotes POLG
T18 567-575 GeneOrGeneProduct denotes mutation
T19 597-607 GeneOrGeneProduct denotes polymerase
T20 622-629 GeneOrGeneProduct denotes protein
T21 696-704 GeneOrGeneProduct denotes mutation
T22 756-760 GeneOrGeneProduct denotes POLG
T23 794-801 GeneOrGeneProduct denotes protein

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 0-4 GeneOrGeneProduct denotes POLG
T2 39-47 GeneOrGeneProduct denotes syndrome
T3 52-65 GeneOrGeneProduct denotes mitochondrial
T4 89-97 GeneOrGeneProduct denotes syndrome
T5 215-228 GeneOrGeneProduct denotes mitochondrial
T6 283-317 GeneOrGeneProduct denotes mitochondrial DNA polymerase gamma
T7 319-323 GeneOrGeneProduct denotes POLG
T8 325-343 GeneOrGeneProduct denotes catalytic activity
T9 356-364 GeneOrGeneProduct denotes seizures
T10 389-394 GeneOrGeneProduct denotes liver
T11 442-450 GeneOrGeneProduct denotes syndrome
T12 531-535 GeneOrGeneProduct denotes POLG
T13 597-607 GeneOrGeneProduct denotes polymerase
T14 622-629 GeneOrGeneProduct denotes protein
T15 756-760 GeneOrGeneProduct denotes POLG
T16 794-801 GeneOrGeneProduct denotes protein

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 297-311 ChemicalEntity denotes DNA polymerase D004259

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 31-47 DiseaseOrPhenotypicFeature denotes Alpers' syndrome D002549
T2 52-79 DiseaseOrPhenotypicFeature denotes mitochondrial DNA depletion DISEASE
T3 81-97 DiseaseOrPhenotypicFeature denotes Alpers' syndrome D002549
T4 215-242 DiseaseOrPhenotypicFeature denotes mitochondrial DNA depletion DISEASE
T5 356-364 DiseaseOrPhenotypicFeature denotes seizures D012640
T6 366-383 DiseaseOrPhenotypicFeature denotes neurodegeneration DISEASE
T7 389-402 DiseaseOrPhenotypicFeature denotes liver disease D008107
T8 434-450 DiseaseOrPhenotypicFeature denotes Alpers' syndrome D002549

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 0-4 GeneOrGeneProduct denotes POLG
T2 283-317 GeneOrGeneProduct denotes mitochondrial DNA polymerase gamma
T3 319-323 GeneOrGeneProduct denotes POLG
T4 325-343 GeneOrGeneProduct denotes catalytic activity
T5 531-535 GeneOrGeneProduct denotes POLG
T6 756-760 GeneOrGeneProduct denotes POLG

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 31-47 DiseaseOrPhenotypicFeature denotes Alpers' syndrome 0008758
T2 81-97 DiseaseOrPhenotypicFeature denotes Alpers' syndrome 0008758
T3 389-402 DiseaseOrPhenotypicFeature denotes liver disease 0005154
T4 434-450 DiseaseOrPhenotypicFeature denotes Alpers' syndrome 0008758
T5 466-471 DiseaseOrPhenotypicFeature denotes child 0017015
T6 658-663 DiseaseOrPhenotypicFeature denotes child 0017015

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 31-47 DiseaseOrPhenotypicFeature denotes Alpers' syndrome D002549
T2 52-79 DiseaseOrPhenotypicFeature denotes mitochondrial DNA depletion DISEASE
T3 81-97 DiseaseOrPhenotypicFeature denotes Alpers' syndrome D002549
T4 109-130 DiseaseOrPhenotypicFeature denotes neurogenetic disorder DISEASE
T5 215-242 DiseaseOrPhenotypicFeature denotes mitochondrial DNA depletion DISEASE
T6 356-364 DiseaseOrPhenotypicFeature denotes seizures D012640
T7 366-383 DiseaseOrPhenotypicFeature denotes neurodegeneration DISEASE
T8 389-402 DiseaseOrPhenotypicFeature denotes liver disease D008107
T9 434-450 DiseaseOrPhenotypicFeature denotes Alpers' syndrome D002549

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 31-47 DiseaseOrPhenotypicFeature denotes Alpers' syndrome D002549
T2 52-79 DiseaseOrPhenotypicFeature denotes mitochondrial DNA depletion DISEASE
T3 81-97 DiseaseOrPhenotypicFeature denotes Alpers' syndrome D002549
T4 109-130 DiseaseOrPhenotypicFeature denotes neurogenetic disorder DISEASE
T5 215-242 DiseaseOrPhenotypicFeature denotes mitochondrial DNA depletion DISEASE
T6 356-364 DiseaseOrPhenotypicFeature denotes seizures D012640
T7 366-383 DiseaseOrPhenotypicFeature denotes neurodegeneration DISEASE
T8 389-402 DiseaseOrPhenotypicFeature denotes liver disease D008107
T9 434-450 DiseaseOrPhenotypicFeature denotes Alpers' syndrome D002549

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T1 297-311 ChemicalEntity denotes DNA polymerase D004259
T6 756-760 GeneOrGeneProduct denotes POLG
T5 531-535 GeneOrGeneProduct denotes POLG
T4 325-343 GeneOrGeneProduct denotes catalytic activity
T3 319-323 GeneOrGeneProduct denotes POLG
T2 283-317 GeneOrGeneProduct denotes mitochondrial DNA polymerase gamma
T1629 0-4 GeneOrGeneProduct denotes POLG
T9 434-450 DiseaseOrPhenotypicFeature denotes Alpers' syndrome D002549
T8 389-402 DiseaseOrPhenotypicFeature denotes liver disease D008107
T7 366-383 DiseaseOrPhenotypicFeature denotes neurodegeneration DISEASE
T83644 356-364 DiseaseOrPhenotypicFeature denotes seizures D012640
T68008 215-242 DiseaseOrPhenotypicFeature denotes mitochondrial DNA depletion DISEASE
T9954 109-130 DiseaseOrPhenotypicFeature denotes neurogenetic disorder DISEASE
T73622 81-97 DiseaseOrPhenotypicFeature denotes Alpers' syndrome D002549
T20620 52-79 DiseaseOrPhenotypicFeature denotes mitochondrial DNA depletion DISEASE
T9377 31-47 DiseaseOrPhenotypicFeature denotes Alpers' syndrome D002549
T54626 730-739 SequenceVariant denotes Ala467Thr
T10316 689-695 SequenceVariant denotes G1681A
T41160 556-565 SequenceVariant denotes Glu873Sto

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-80 Sentence denotes POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
TextSentencer_T2 81-170 Sentence denotes Alpers' syndrome is a fatal neurogenetic disorder first described more than 70 years ago.
TextSentencer_T3 171-403 Sentence denotes It is an autosomal recessive, developmental mitochondrial DNA depletion disorder characterized by deficiency in mitochondrial DNA polymerase gamma (POLG) catalytic activity, refractory seizures, neurodegeneration, and liver disease.
TextSentencer_T4 404-630 Sentence denotes In two unrelated pedigrees of Alpers' syndrome, each affected child was found to carry a homozygous mutation in exon 17 of the POLG locus that led to a Glu873Stop mutation just upstream of the polymerase domain of the protein.
TextSentencer_T5 631-802 Sentence denotes In addition, each affected child was heterozygous for the G1681A mutation in exon 7 that led to an Ala467Thr substitution in POLG, within the linker region of the protein.
T1 0-80 Sentence denotes POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
T2 81-170 Sentence denotes Alpers' syndrome is a fatal neurogenetic disorder first described more than 70 years ago.
T3 171-403 Sentence denotes It is an autosomal recessive, developmental mitochondrial DNA depletion disorder characterized by deficiency in mitochondrial DNA polymerase gamma (POLG) catalytic activity, refractory seizures, neurodegeneration, and liver disease.
T4 404-630 Sentence denotes In two unrelated pedigrees of Alpers' syndrome, each affected child was found to carry a homozygous mutation in exon 17 of the POLG locus that led to a Glu873Stop mutation just upstream of the polymerase domain of the protein.
T5 631-802 Sentence denotes In addition, each affected child was heterozygous for the G1681A mutation in exon 7 that led to an Ala467Thr substitution in POLG, within the linker region of the protein.

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 389-394 http://purl.obolibrary.org/obo/UBERON_0002107 denotes liver

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 356-364 HP:0001250 denotes seizures
AB2 366-383 HP:0002180 denotes neurodegeneration

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 81-97 ORDO:726 denotes Alpers' syndrome
TI1 31-47 ORDO:726 denotes Alpers' syndrome
AB2 434-450 ORDO:726 denotes Alpers' syndrome

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 556-566 ProteinMutation:p|SUB|E|873|X denotes Glu873Stop
T2 689-695 DNAMutation:c|SUB|G|1681|A denotes G1681A
T3 730-739 ProteinMutation:p|SUB|A|467|T denotes Ala467Thr