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PubMed:16181814 JSONTXT

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LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-127 Sentence denotes Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome.
T2 128-246 Sentence denotes Alpers syndrome is an autosomal recessive mitochondrial DNA depletion disorder that affects children and young adults.
T3 247-315 Sentence denotes It is characterized by a progressive, fatal brain and liver disease.
T4 316-437 Sentence denotes This syndrome has been associated with mutations in POLG, the gene encoding the mitochondrial DNA polymerase (pol gamma).
T5 438-580 Sentence denotes Most patients with Alpers syndrome have been found to be compound heterozygotes, carrying two pathogenic mutations in trans at the POLG locus.
T6 581-720 Sentence denotes POLG is a nuclear-encoded gene whose protein product is imported into mitochondria, where it is essential for mtDNA replication and repair.
T7 721-822 Sentence denotes We studied the skin fibroblasts of a patient with Alpers syndrome having the genotype E873stop/A467T.
T8 823-901 Sentence denotes The E873stop mutation produces a premature termination codon (TAG) in exon 17.
T9 902-1003 Sentence denotes The A467T mutation produces a threonine to alanine substitution at a highly conserved site in exon 7.
T10 1004-1120 Sentence denotes The allele bearing the stop codon (E873-TAG) is predicted to produce a truncated, catalytically inactive polymerase.
T11 1121-1203 Sentence denotes However, only full-length pol gamma protein was detected by Western blot analysis.
T12 1204-1339 Sentence denotes Here, we show that transcripts containing this stop codon undergo nonsense-associated alternative splicing and nonsense-mediated decay.
T13 1340-1486 Sentence denotes More than 95% of the functional POLG mRNA was derived from the allele bearing the A467T mutation and less than 5% contained the E873stop mutation.
T14 1487-1588 Sentence denotes These events ensured that virtually all POLG protein in the cell was expressed from the A467T allele.
T15 1589-1774 Sentence denotes Therefore, the Alpers phenotype in this patient was a consequence of a single-copy gene dose of the A467T allele, and selective elimination of transcripts bearing the E873stop mutation.

LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 878-883 OrganismTaxon denotes codon NCBItxid:79338
T2 1032-1037 OrganismTaxon denotes codon NCBItxid:79338
T3 1256-1261 OrganismTaxon denotes codon NCBItxid:79338

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
2331 13-17 GeneOrGeneProduct denotes POLG NCBIGene:5428
2332 98-105 OrganismTaxon denotes patient NCBITaxon:9606
2333 111-126 DiseaseOrPhenotypicFeature denotes Alpers syndrome MESH:D002549
2334 128-143 DiseaseOrPhenotypicFeature denotes Alpers syndrome MESH:D002549
2335 170-197 DiseaseOrPhenotypicFeature denotes mitochondrial DNA depletion MESH:D028361
2336 301-314 DiseaseOrPhenotypicFeature denotes liver disease MESH:D008107
2337 368-372 GeneOrGeneProduct denotes POLG NCBIGene:5428
2338 426-435 GeneOrGeneProduct denotes pol gamma NCBIGene:5428
2339 443-451 OrganismTaxon denotes patients NCBITaxon:9606
2340 457-472 DiseaseOrPhenotypicFeature denotes Alpers syndrome MESH:D002549
2341 569-573 GeneOrGeneProduct denotes POLG NCBIGene:5428
2342 581-585 GeneOrGeneProduct denotes POLG NCBIGene:5428
2343 758-765 OrganismTaxon denotes patient NCBITaxon:9606
2344 771-786 DiseaseOrPhenotypicFeature denotes Alpers syndrome MESH:D002549
2345 807-815 SequenceVariant denotes E873stop DBSNP:rs121918047
2346 816-821 SequenceVariant denotes A467T DBSNP:rs113994095
2347 827-835 SequenceVariant denotes E873stop DBSNP:rs121918047
2348 906-911 SequenceVariant denotes A467T DBSNP:rs113994095
2349 932-952 SequenceVariant denotes threonine to alanine DBSNP:rs113994095
2350 1039-1047 SequenceVariant denotes E873-TAG DBSNP:rs121918047
2351 1147-1156 GeneOrGeneProduct denotes pol gamma NCBIGene:5428
2352 1372-1376 GeneOrGeneProduct denotes POLG NCBIGene:5428
2353 1422-1427 SequenceVariant denotes A467T DBSNP:rs113994095
2354 1468-1476 SequenceVariant denotes E873stop DBSNP:rs121918047
2355 1527-1531 GeneOrGeneProduct denotes POLG NCBIGene:5428
2356 1575-1580 SequenceVariant denotes A467T DBSNP:rs113994095
2357 1629-1636 OrganismTaxon denotes patient NCBITaxon:9606
2358 1689-1694 SequenceVariant denotes A467T DBSNP:rs113994095
2359 1756-1764 SequenceVariant denotes E873stop DBSNP:rs121918047

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 301-314 DiseaseOrPhenotypicFeature denotes liver disease 0005154

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 807-815 SequenceVariant denotes E873stop
T2 816-821 SequenceVariant denotes A467T
T3 827-835 SequenceVariant denotes E873stop
T4 906-911 SequenceVariant denotes A467T
T5 1422-1427 SequenceVariant denotes A467T
T6 1468-1476 SequenceVariant denotes E873stop
T7 1575-1580 SequenceVariant denotes A467T
T8 1689-1694 SequenceVariant denotes A467T
T9 1756-1764 SequenceVariant denotes E873stop

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 0-4 GeneOrGeneProduct denotes Mono
T2 13-17 GeneOrGeneProduct denotes POLG
T3 53-61 GeneOrGeneProduct denotes mediated
T4 62-67 GeneOrGeneProduct denotes decay
T5 84-92 GeneOrGeneProduct denotes splicing
T6 118-126 GeneOrGeneProduct denotes syndrome
T7 135-143 GeneOrGeneProduct denotes syndrome
T8 170-183 GeneOrGeneProduct denotes mitochondrial
T9 188-197 GeneOrGeneProduct denotes depletion
T10 233-238 GeneOrGeneProduct denotes young
T11 291-296 GeneOrGeneProduct denotes brain
T12 301-306 GeneOrGeneProduct denotes liver
T13 321-329 GeneOrGeneProduct denotes syndrome
T14 355-364 GeneOrGeneProduct denotes mutations
T15 368-372 GeneOrGeneProduct denotes POLG
T16 396-424 GeneOrGeneProduct denotes mitochondrial DNA polymerase
T17 426-435 GeneOrGeneProduct denotes pol gamma
T18 464-472 GeneOrGeneProduct denotes syndrome
T19 543-552 GeneOrGeneProduct denotes mutations
T20 553-561 GeneOrGeneProduct denotes in trans
T21 569-573 GeneOrGeneProduct denotes POLG
T22 581-585 GeneOrGeneProduct denotes POLG
T23 618-625 GeneOrGeneProduct denotes protein
T24 626-633 GeneOrGeneProduct denotes product
T25 651-663 GeneOrGeneProduct denotes mitochondria
T26 736-740 GeneOrGeneProduct denotes skin
T27 778-786 GeneOrGeneProduct denotes syndrome
T28 836-844 GeneOrGeneProduct denotes mutation
T29 912-920 GeneOrGeneProduct denotes mutation
T30 945-952 GeneOrGeneProduct denotes alanine
T31 971-977 GeneOrGeneProduct denotes highly
T32 978-987 GeneOrGeneProduct denotes conserved
T33 1027-1031 GeneOrGeneProduct denotes stop
T34 1052-1061 GeneOrGeneProduct denotes predicted
T35 1075-1084 GeneOrGeneProduct denotes truncated
T36 1086-1099 GeneOrGeneProduct denotes catalytically
T37 1100-1108 GeneOrGeneProduct denotes inactive
T38 1109-1119 GeneOrGeneProduct denotes polymerase
T39 1135-1139 GeneOrGeneProduct denotes full
T40 1147-1156 GeneOrGeneProduct denotes pol gamma
T41 1157-1164 GeneOrGeneProduct denotes protein
T42 1189-1193 GeneOrGeneProduct denotes blot
T43 1223-1234 GeneOrGeneProduct denotes transcripts
T44 1251-1255 GeneOrGeneProduct denotes stop
T45 1302-1314 GeneOrGeneProduct denotes splicing and
T46 1324-1332 GeneOrGeneProduct denotes mediated
T47 1333-1338 GeneOrGeneProduct denotes decay
T48 1372-1376 GeneOrGeneProduct denotes POLG
T49 1377-1381 GeneOrGeneProduct denotes mRNA
T50 1428-1436 GeneOrGeneProduct denotes mutation
T51 1477-1485 GeneOrGeneProduct denotes mutation
T52 1523-1526 GeneOrGeneProduct denotes all
T53 1527-1531 GeneOrGeneProduct denotes POLG
T54 1532-1539 GeneOrGeneProduct denotes protein
T55 1547-1551 GeneOrGeneProduct denotes cell
T56 1732-1743 GeneOrGeneProduct denotes transcripts
T57 1765-1773 GeneOrGeneProduct denotes mutation

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 13-17 GeneOrGeneProduct denotes POLG
T2 62-67 GeneOrGeneProduct denotes decay
T3 118-126 GeneOrGeneProduct denotes syndrome
T4 135-143 GeneOrGeneProduct denotes syndrome
T5 170-183 GeneOrGeneProduct denotes mitochondrial
T6 233-238 GeneOrGeneProduct denotes young
T7 291-296 GeneOrGeneProduct denotes brain
T8 301-306 GeneOrGeneProduct denotes liver
T9 321-329 GeneOrGeneProduct denotes syndrome
T10 368-372 GeneOrGeneProduct denotes POLG
T11 396-424 GeneOrGeneProduct denotes mitochondrial DNA polymerase
T12 426-435 GeneOrGeneProduct denotes pol gamma
T13 464-472 GeneOrGeneProduct denotes syndrome
T14 569-573 GeneOrGeneProduct denotes POLG
T15 581-585 GeneOrGeneProduct denotes POLG
T16 618-625 GeneOrGeneProduct denotes protein
T17 626-633 GeneOrGeneProduct denotes product
T18 651-663 GeneOrGeneProduct denotes mitochondria
T19 778-786 GeneOrGeneProduct denotes syndrome
T20 945-952 GeneOrGeneProduct denotes alanine
T21 978-987 GeneOrGeneProduct denotes conserved
T22 1027-1031 GeneOrGeneProduct denotes stop
T23 1075-1084 GeneOrGeneProduct denotes truncated
T24 1100-1108 GeneOrGeneProduct denotes inactive
T25 1109-1119 GeneOrGeneProduct denotes polymerase
T26 1147-1156 GeneOrGeneProduct denotes pol gamma
T27 1157-1164 GeneOrGeneProduct denotes protein
T28 1189-1193 GeneOrGeneProduct denotes blot
T29 1251-1255 GeneOrGeneProduct denotes stop
T30 1333-1338 GeneOrGeneProduct denotes decay
T31 1372-1376 GeneOrGeneProduct denotes POLG
T32 1377-1381 GeneOrGeneProduct denotes mRNA
T33 1527-1531 GeneOrGeneProduct denotes POLG
T34 1532-1539 GeneOrGeneProduct denotes protein
T35 1547-1551 GeneOrGeneProduct denotes cell

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 111-126 DiseaseOrPhenotypicFeature denotes Alpers syndrome D002549
T2 128-143 DiseaseOrPhenotypicFeature denotes Alpers syndrome D002549
T3 170-197 DiseaseOrPhenotypicFeature denotes mitochondrial DNA depletion DISEASE
T4 301-314 DiseaseOrPhenotypicFeature denotes liver disease D008107
T5 321-329 DiseaseOrPhenotypicFeature denotes syndrome D013577
T6 457-472 DiseaseOrPhenotypicFeature denotes Alpers syndrome D002549
T7 771-786 DiseaseOrPhenotypicFeature denotes Alpers syndrome D002549

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 13-17 GeneOrGeneProduct denotes POLG
T2 368-372 GeneOrGeneProduct denotes POLG
T3 396-424 GeneOrGeneProduct denotes mitochondrial DNA polymerase
T4 426-435 GeneOrGeneProduct denotes pol gamma
T5 569-573 GeneOrGeneProduct denotes POLG
T6 581-585 GeneOrGeneProduct denotes POLG
T7 1147-1156 GeneOrGeneProduct denotes pol gamma
T8 1372-1376 GeneOrGeneProduct denotes POLG
T9 1527-1531 GeneOrGeneProduct denotes POLG

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 0-4 DiseaseOrPhenotypicFeature denotes Mono 0005810
T2 111-126 DiseaseOrPhenotypicFeature denotes Alpers syndrome 0008758
T3 128-143 DiseaseOrPhenotypicFeature denotes Alpers syndrome 0008758
T4 301-314 DiseaseOrPhenotypicFeature denotes liver disease 0005154
T5 321-329 DiseaseOrPhenotypicFeature denotes syndrome 0002254
T6 457-472 DiseaseOrPhenotypicFeature denotes Alpers syndrome 0008758
T7 736-740 DiseaseOrPhenotypicFeature denotes skin 0002531
T8 771-786 DiseaseOrPhenotypicFeature denotes Alpers syndrome 0008758

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 111-126 DiseaseOrPhenotypicFeature denotes Alpers syndrome D002549
T2 128-143 DiseaseOrPhenotypicFeature denotes Alpers syndrome D002549
T3 170-197 DiseaseOrPhenotypicFeature denotes mitochondrial DNA depletion DISEASE
T4 301-314 DiseaseOrPhenotypicFeature denotes liver disease D008107
T5 321-329 DiseaseOrPhenotypicFeature denotes syndrome D013577
T6 457-472 DiseaseOrPhenotypicFeature denotes Alpers syndrome D002549
T7 771-786 DiseaseOrPhenotypicFeature denotes Alpers syndrome D002549

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 111-126 DiseaseOrPhenotypicFeature denotes Alpers syndrome D002549
T2 128-143 DiseaseOrPhenotypicFeature denotes Alpers syndrome D002549
T3 170-197 DiseaseOrPhenotypicFeature denotes mitochondrial DNA depletion DISEASE
T4 301-314 DiseaseOrPhenotypicFeature denotes liver disease D008107
T5 457-472 DiseaseOrPhenotypicFeature denotes Alpers syndrome D002549
T6 771-786 DiseaseOrPhenotypicFeature denotes Alpers syndrome D002549

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 410-424 ChemicalEntity denotes DNA polymerase D004259
T2 932-941 ChemicalEntity denotes threonine http://purl.obolibrary.org/obo/CHEBI_26986
T3 945-952 ChemicalEntity denotes alanine http://purl.obolibrary.org/obo/CHEBI_16449

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 98-105 OrganismTaxon denotes patient
T2 443-451 OrganismTaxon denotes patients
T3 758-765 OrganismTaxon denotes patient
T4 1629-1636 OrganismTaxon denotes patient

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T3 945-952 ChemicalEntity denotes alanine http://purl.obolibrary.org/obo/CHEBI_16449
T2 932-941 ChemicalEntity denotes threonine http://purl.obolibrary.org/obo/CHEBI_26986
T1 410-424 ChemicalEntity denotes DNA polymerase D004259
T9 1527-1531 GeneOrGeneProduct denotes POLG
T8 1372-1376 GeneOrGeneProduct denotes POLG
T7 1147-1156 GeneOrGeneProduct denotes pol gamma
T6 581-585 GeneOrGeneProduct denotes POLG
T5 569-573 GeneOrGeneProduct denotes POLG
T4 426-435 GeneOrGeneProduct denotes pol gamma
T6013 396-424 GeneOrGeneProduct denotes mitochondrial DNA polymerase
T29019 368-372 GeneOrGeneProduct denotes POLG
T3983 13-17 GeneOrGeneProduct denotes POLG
T94004 771-786 DiseaseOrPhenotypicFeature denotes Alpers syndrome D002549
T22101 457-472 DiseaseOrPhenotypicFeature denotes Alpers syndrome D002549
T96460 301-314 DiseaseOrPhenotypicFeature denotes liver disease D008107
T37509 170-197 DiseaseOrPhenotypicFeature denotes mitochondrial DNA depletion DISEASE
T25423 128-143 DiseaseOrPhenotypicFeature denotes Alpers syndrome D002549
T73252 111-126 DiseaseOrPhenotypicFeature denotes Alpers syndrome D002549
T15051 1629-1636 OrganismTaxon denotes patient
T69776 758-765 OrganismTaxon denotes patient
T66514 443-451 OrganismTaxon denotes patients
T53321 98-105 OrganismTaxon denotes patient
T89866 1756-1764 SequenceVariant denotes E873stop
T71980 1689-1694 SequenceVariant denotes A467T
T2663 1575-1580 SequenceVariant denotes A467T
T18412 1468-1476 SequenceVariant denotes E873stop
T5305 1422-1427 SequenceVariant denotes A467T
T81214 906-911 SequenceVariant denotes A467T
T56637 827-835 SequenceVariant denotes E873stop
T2202 816-821 SequenceVariant denotes A467T
T36131 807-815 SequenceVariant denotes E873stop

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
16181814-0#13#17#gene5428 13-17 gene5428 denotes POLG
16181814-0#111#126#diseaseC0007795 111-126 diseaseC0007795 denotes Alpers syndrome
16181814-0#111#126#diseaseC0205710 111-126 diseaseC0205710 denotes Alpers syndrome
13#17#gene5428111#126#diseaseC0007795 16181814-0#13#17#gene5428 16181814-0#111#126#diseaseC0007795 associated_with POLG,Alpers syndrome
13#17#gene5428111#126#diseaseC0205710 16181814-0#13#17#gene5428 16181814-0#111#126#diseaseC0205710 associated_with POLG,Alpers syndrome

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 807-815 ProteinMutation:p|SUB|E|873|X denotes E873stop
T2 816-821 ProteinMutation:p|SUB|A|467|T denotes A467T
T3 827-835 ProteinMutation:p|SUB|E|873|X denotes E873stop
T4 906-911 ProteinMutation:p|SUB|A|467|T denotes A467T
T5 1039-1047 ProteinMutation:p|SUB|E|873|X denotes E873-TAG
T6 1422-1427 ProteinMutation:p|SUB|A|467|T denotes A467T
T7 1468-1476 ProteinMutation:p|SUB|E|873|X denotes E873stop
T8 1575-1580 ProteinMutation:p|SUB|A|467|T denotes A467T
T9 1689-1694 ProteinMutation:p|SUB|A|467|T denotes A467T
T10 1756-1764 ProteinMutation:p|SUB|E|873|X denotes E873stop

DisGeNET

Id Subject Object Predicate Lexical cue
T0 13-17 gene:5428 denotes POLG
T1 111-126 disease:C0007795 denotes Alpers syndrome
T2 13-17 gene:5428 denotes POLG
T3 111-126 disease:C0205710 denotes Alpers syndrome
R1 T0 T1 associated_with POLG,Alpers syndrome
R2 T2 T3 associated_with POLG,Alpers syndrome

biored-valid-deepseek-nr-ng

Id Subject Object Predicate Lexical cue
T1 0-28 GeneOrGeneProduct denotes Mono-allelic POLG expression
T2 111-126 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T3 128-143 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T4 368-372 GeneOrGeneProduct denotes POLG
T5 457-472 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T6 569-573 GeneOrGeneProduct denotes POLG
T7 581-585 GeneOrGeneProduct denotes POLG
T8 1604-1620 DiseaseOrPhenotypicFeature denotes Alpers phenotype

biored-valid

Id Subject Object Predicate Lexical cue
T1 13-17 GeneOrGeneProduct denotes POLG
T2 98-105 OrganismTaxon denotes patient
T3 111-126 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T4 128-143 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T5 170-197 DiseaseOrPhenotypicFeature denotes mitochondrial DNA depletion
T6 301-314 DiseaseOrPhenotypicFeature denotes liver disease
T7 368-372 GeneOrGeneProduct denotes POLG
T8 426-435 GeneOrGeneProduct denotes pol gamma
T9 443-451 OrganismTaxon denotes patients
T10 457-472 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T11 569-573 GeneOrGeneProduct denotes POLG
T12 581-585 GeneOrGeneProduct denotes POLG
T13 758-765 OrganismTaxon denotes patient
T14 771-786 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T15 807-815 SequenceVariant denotes E873stop
T16 816-821 SequenceVariant denotes A467T
T17 827-835 SequenceVariant denotes E873stop
T18 906-911 SequenceVariant denotes A467T
T19 932-952 SequenceVariant denotes threonine to alanine
T20 1039-1047 SequenceVariant denotes E873-TAG
T21 1147-1156 GeneOrGeneProduct denotes pol gamma
T22 1372-1376 GeneOrGeneProduct denotes POLG
T23 1422-1427 SequenceVariant denotes A467T
T24 1468-1476 SequenceVariant denotes E873stop
T25 1527-1531 GeneOrGeneProduct denotes POLG
T26 1575-1580 SequenceVariant denotes A467T
T27 1629-1636 OrganismTaxon denotes patient
T28 1689-1694 SequenceVariant denotes A467T
T29 1756-1764 SequenceVariant denotes E873stop

biored-valid-deepseek-nr-g

Id Subject Object Predicate Lexical cue
T1 0-4 ChemicalEntity denotes Mono
T2 5-12 SequenceVariant denotes allelic
T3 13-17 GeneOrGeneProduct denotes POLG
T4 111-126 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T5 150-169 DiseaseOrPhenotypicFeature denotes autosomal recessive
T6 170-197 DiseaseOrPhenotypicFeature denotes mitochondrial DNA depletion
T7 198-206 DiseaseOrPhenotypicFeature denotes disorder
T8 301-306 DiseaseOrPhenotypicFeature denotes liver
T9 307-314 DiseaseOrPhenotypicFeature denotes disease
T10 368-372 GeneOrGeneProduct denotes POLG
T11 396-424 GeneOrGeneProduct denotes mitochondrial DNA polymerase
T12 426-435 GeneOrGeneProduct denotes pol gamma
T13 457-472 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T14 581-585 GeneOrGeneProduct denotes POLG
T15 618-625 GeneOrGeneProduct denotes protein
T16 691-708 GeneOrGeneProduct denotes mtDNA replication
T17 713-719 GeneOrGeneProduct denotes repair
T18 807-815 SequenceVariant denotes E873stop
T19 816-821 SequenceVariant denotes A467T
T20 827-835 SequenceVariant denotes E873stop
T21 885-888 SequenceVariant denotes TAG
T22 906-911 SequenceVariant denotes A467T
T23 932-941 ChemicalEntity denotes threonine
T24 945-952 ChemicalEntity denotes alanine
T25 996-1002 SequenceVariant denotes exon 7
T26 1039-1047 SequenceVariant denotes E873-TAG
T27 1157-1164 GeneOrGeneProduct denotes protein
T28 1377-1381 GeneOrGeneProduct denotes mRNA
T29 1604-1620 DiseaseOrPhenotypicFeature denotes Alpers phenotype

biored-valid-deepseek-r-ng

Id Subject Object Predicate Lexical cue
T1 13-17 GeneOrGeneProduct denotes POLG
T2 111-126 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T3 128-143 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T4 368-372 GeneOrGeneProduct denotes POLG
T5 426-435 GeneOrGeneProduct denotes pol gamma
T6 807-815 SequenceVariant denotes E873stop
T7 816-821 SequenceVariant denotes A467T
T8 885-888 ChemicalEntity denotes TAG
T9 932-941 ChemicalEntity denotes threonine
T10 945-952 ChemicalEntity denotes alanine
T11 1039-1047 SequenceVariant denotes E873-TAG
T12 1372-1381 GeneOrGeneProduct denotes POLG mRNA
T13 1527-1539 GeneOrGeneProduct denotes POLG protein
T14 1604-1620 DiseaseOrPhenotypicFeature denotes Alpers phenotype

biored-valid-deepseek-r-g

Id Subject Object Predicate Lexical cue
T1 13-17 GeneOrGeneProduct denotes POLG
T2 111-126 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T3 368-372 GeneOrGeneProduct denotes POLG
T4 426-435 GeneOrGeneProduct denotes pol gamma
T5 457-472 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T6 807-815 SequenceVariant denotes E873stop
T7 816-821 SequenceVariant denotes A467T
T8 1039-1047 SequenceVariant denotes E873-TAG
T9 1147-1164 GeneOrGeneProduct denotes pol gamma protein
T10 1372-1381 GeneOrGeneProduct denotes POLG mRNA
T11 1527-1539 GeneOrGeneProduct denotes POLG protein
T12 1604-1620 DiseaseOrPhenotypicFeature denotes Alpers phenotype

biored-valid-gemini-nr-ng

Id Subject Object Predicate Lexical cue
T1 13-17 GeneOrGeneProduct denotes POLG
T2 111-126 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T3 150-169 DiseaseOrPhenotypicFeature denotes autosomal recessive
T4 170-206 DiseaseOrPhenotypicFeature denotes mitochondrial DNA depletion disorder
T5 301-314 DiseaseOrPhenotypicFeature denotes liver disease
T6 368-372 GeneOrGeneProduct denotes POLG
T7 426-435 GeneOrGeneProduct denotes pol gamma
T8 457-472 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T9 736-752 CellLine denotes skin fibroblasts
T10 807-815 SequenceVariant denotes E873stop
T11 816-821 SequenceVariant denotes A467T
T12 827-835 SequenceVariant denotes E873stop
T13 906-911 SequenceVariant denotes A467T
T14 932-941 ChemicalEntity denotes threonine
T15 945-952 ChemicalEntity denotes alanine
T16 1039-1047 SequenceVariant denotes E873-TAG
T17 1109-1119 GeneOrGeneProduct denotes polymerase
T18 1147-1156 GeneOrGeneProduct denotes pol gamma
T19 1372-1376 GeneOrGeneProduct denotes POLG
T20 1422-1427 SequenceVariant denotes A467T
T21 1468-1476 SequenceVariant denotes E873stop
T22 1604-1620 DiseaseOrPhenotypicFeature denotes Alpers phenotype

biored-valid-gemini-r-ng

Id Subject Object Predicate Lexical cue
T1 13-17 GeneOrGeneProduct denotes POLG
T2 111-126 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T3 150-206 DiseaseOrPhenotypicFeature denotes autosomal recessive mitochondrial DNA depletion disorder
T4 291-314 DiseaseOrPhenotypicFeature denotes brain and liver disease
T5 368-372 GeneOrGeneProduct denotes POLG
T6 396-424 GeneOrGeneProduct denotes mitochondrial DNA polymerase
T7 426-435 GeneOrGeneProduct denotes pol gamma
T8 457-472 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T9 495-517 DiseaseOrPhenotypicFeature denotes compound heterozygotes
T10 569-579 GeneOrGeneProduct denotes POLG locus
T11 691-696 ChemicalEntity denotes mtDNA
T12 736-752 CellLine denotes skin fibroblasts
T13 771-786 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T14 807-821 SequenceVariant denotes E873stop/A467T
T15 827-844 SequenceVariant denotes E873stop mutation
T16 856-883 SequenceVariant denotes premature termination codon
T17 885-888 ChemicalEntity denotes TAG
T18 906-920 SequenceVariant denotes A467T mutation
T19 932-941 ChemicalEntity denotes threonine
T20 945-952 ChemicalEntity denotes alanine
T21 1027-1037 SequenceVariant denotes stop codon
T22 1039-1047 SequenceVariant denotes E873-TAG
T23 1109-1119 GeneOrGeneProduct denotes polymerase
T24 1147-1164 GeneOrGeneProduct denotes pol gamma protein
T25 1251-1261 SequenceVariant denotes stop codon
T26 1372-1381 GeneOrGeneProduct denotes POLG mRNA
T27 1422-1436 SequenceVariant denotes A467T mutation
T28 1468-1485 SequenceVariant denotes E873stop mutation
T29 1527-1539 GeneOrGeneProduct denotes POLG protein
T30 1575-1587 GeneOrGeneProduct denotes A467T allele
T31 1604-1620 DiseaseOrPhenotypicFeature denotes Alpers phenotype
T32 1756-1773 SequenceVariant denotes E873stop mutation

biored-valid-gemini-r-g

Id Subject Object Predicate Lexical cue
T1 13-17 GeneOrGeneProduct denotes POLG
T2 111-126 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T3 150-206 DiseaseOrPhenotypicFeature denotes autosomal recessive mitochondrial DNA depletion disorder
T4 291-314 DiseaseOrPhenotypicFeature denotes brain and liver disease
T5 368-372 GeneOrGeneProduct denotes POLG
T6 396-424 GeneOrGeneProduct denotes mitochondrial DNA polymerase
T7 426-435 GeneOrGeneProduct denotes pol gamma
T8 457-472 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T9 807-821 SequenceVariant denotes E873stop/A467T
T10 827-844 SequenceVariant denotes E873stop mutation
T11 906-920 SequenceVariant denotes A467T mutation
T12 932-965 SequenceVariant denotes threonine to alanine substitution
T13 1039-1047 SequenceVariant denotes E873-TAG
T14 1372-1381 GeneOrGeneProduct denotes POLG mRNA
T15 1468-1485 SequenceVariant denotes E873stop mutation
T16 1527-1539 GeneOrGeneProduct denotes POLG protein
T17 1575-1587 SequenceVariant denotes A467T allele
T18 1604-1620 DiseaseOrPhenotypicFeature denotes Alpers phenotype

biored-valid-gpt-nr-ng

Id Subject Object Predicate Lexical cue
T1 13-17 GeneOrGeneProduct denotes POLG
T2 111-126 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T3 170-206 DiseaseOrPhenotypicFeature denotes mitochondrial DNA depletion disorder
T4 291-314 DiseaseOrPhenotypicFeature denotes brain and liver disease
T5 368-372 GeneOrGeneProduct denotes POLG
T6 426-435 GeneOrGeneProduct denotes pol gamma
T7 457-472 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T8 569-573 GeneOrGeneProduct denotes POLG
T9 771-786 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T10 807-815 SequenceVariant denotes E873stop
T11 816-821 SequenceVariant denotes A467T
T12 906-911 SequenceVariant denotes A467T
T13 932-941 ChemicalEntity denotes threonine
T14 945-952 ChemicalEntity denotes alanine
T15 1039-1047 SequenceVariant denotes E873-TAG
T16 1147-1156 GeneOrGeneProduct denotes pol gamma
T17 1372-1381 GeneOrGeneProduct denotes POLG mRNA
T18 1422-1427 SequenceVariant denotes A467T
T19 1468-1476 SequenceVariant denotes E873stop
T20 1527-1539 GeneOrGeneProduct denotes POLG protein
T21 1575-1580 SequenceVariant denotes A467T
T22 1604-1620 DiseaseOrPhenotypicFeature denotes Alpers phenotype
T23 1689-1694 SequenceVariant denotes A467T
T24 1756-1764 SequenceVariant denotes E873stop

biored-valid-gpt-r-ng

Id Subject Object Predicate Lexical cue
T1 13-17 GeneOrGeneProduct denotes POLG
T2 111-126 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T3 170-187 ChemicalEntity denotes mitochondrial DNA
T4 291-314 DiseaseOrPhenotypicFeature denotes brain and liver disease
T5 368-372 GeneOrGeneProduct denotes POLG
T6 396-413 ChemicalEntity denotes mitochondrial DNA
T7 426-435 GeneOrGeneProduct denotes pol gamma
T8 457-472 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T9 569-573 GeneOrGeneProduct denotes POLG
T10 691-696 ChemicalEntity denotes mtDNA
T11 771-786 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T12 807-815 SequenceVariant denotes E873stop
T13 816-821 SequenceVariant denotes A467T
T14 906-911 SequenceVariant denotes A467T
T15 932-941 ChemicalEntity denotes threonine
T16 945-952 ChemicalEntity denotes alanine
T17 1039-1047 SequenceVariant denotes E873-TAG
T18 1147-1156 GeneOrGeneProduct denotes pol gamma
T19 1372-1381 GeneOrGeneProduct denotes POLG mRNA
T20 1422-1427 SequenceVariant denotes A467T
T21 1468-1476 SequenceVariant denotes E873stop
T22 1527-1539 GeneOrGeneProduct denotes POLG protein
T23 1575-1580 SequenceVariant denotes A467T
T24 1604-1620 DiseaseOrPhenotypicFeature denotes Alpers phenotype
T25 1689-1694 SequenceVariant denotes A467T
T26 1756-1764 SequenceVariant denotes E873stop

biored-valid-gpt-nr-g

Id Subject Object Predicate Lexical cue
T1 13-17 GeneOrGeneProduct denotes POLG
T2 111-126 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T3 170-206 DiseaseOrPhenotypicFeature denotes mitochondrial DNA depletion disorder
T4 368-372 GeneOrGeneProduct denotes POLG
T5 396-436 GeneOrGeneProduct denotes mitochondrial DNA polymerase (pol gamma)
T6 457-472 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T7 569-573 GeneOrGeneProduct denotes POLG
T8 807-821 SequenceVariant denotes E873stop/A467T
T9 906-911 SequenceVariant denotes A467T
T10 1039-1047 SequenceVariant denotes E873-TAG
T11 1147-1164 GeneOrGeneProduct denotes pol gamma protein
T12 1372-1381 GeneOrGeneProduct denotes POLG mRNA
T13 1422-1427 SequenceVariant denotes A467T
T14 1468-1476 SequenceVariant denotes E873stop
T15 1527-1539 GeneOrGeneProduct denotes POLG protein
T16 1575-1580 SequenceVariant denotes A467T
T17 1689-1694 SequenceVariant denotes A467T
T18 1756-1764 SequenceVariant denotes E873stop

biored-valid-gpt-r-g

Id Subject Object Predicate Lexical cue
T1 13-17 GeneOrGeneProduct denotes POLG
T2 111-126 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T3 170-206 DiseaseOrPhenotypicFeature denotes mitochondrial DNA depletion disorder
T4 368-372 GeneOrGeneProduct denotes POLG
T5 396-424 GeneOrGeneProduct denotes mitochondrial DNA polymerase
T6 426-435 GeneOrGeneProduct denotes pol gamma
T7 457-472 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T8 569-573 GeneOrGeneProduct denotes POLG
T9 771-786 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T10 807-815 SequenceVariant denotes E873stop
T11 816-821 SequenceVariant denotes A467T
T12 906-911 SequenceVariant denotes A467T
T13 1039-1047 SequenceVariant denotes E873-TAG
T14 1147-1156 GeneOrGeneProduct denotes pol gamma
T15 1372-1376 GeneOrGeneProduct denotes POLG
T16 1422-1427 SequenceVariant denotes A467T
T17 1468-1476 SequenceVariant denotes E873stop
T18 1527-1531 GeneOrGeneProduct denotes POLG
T19 1575-1580 SequenceVariant denotes A467T
T20 1689-1694 SequenceVariant denotes A467T
T21 1756-1764 SequenceVariant denotes E873stop

biored-valid-gemini-nr-g

Id Subject Object Predicate Lexical cue
T1 13-17 GeneOrGeneProduct denotes POLG
T2 111-126 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T3 150-206 DiseaseOrPhenotypicFeature denotes autosomal recessive mitochondrial DNA depletion disorder
T4 301-314 DiseaseOrPhenotypicFeature denotes liver disease
T5 368-372 GeneOrGeneProduct denotes POLG
T6 426-435 GeneOrGeneProduct denotes pol gamma
T7 457-472 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T8 569-573 GeneOrGeneProduct denotes POLG
T9 736-752 CellLine denotes skin fibroblasts
T10 807-815 SequenceVariant denotes E873stop
T11 816-821 SequenceVariant denotes A467T
T12 827-835 SequenceVariant denotes E873stop
T13 906-911 SequenceVariant denotes A467T
T14 932-941 ChemicalEntity denotes threonine
T15 945-952 ChemicalEntity denotes alanine
T16 1039-1047 SequenceVariant denotes E873-TAG
T17 1147-1156 GeneOrGeneProduct denotes pol gamma
T18 1372-1376 GeneOrGeneProduct denotes POLG
T19 1422-1427 SequenceVariant denotes A467T
T20 1468-1476 SequenceVariant denotes E873stop
T21 1604-1620 DiseaseOrPhenotypicFeature denotes Alpers phenotype

biored-valid-gpt-r-m

Id Subject Object Predicate Lexical cue
T1 13-17 GeneOrGeneProduct denotes POLG
T2 98-105 OrganismTaxon denotes patient
T3 111-126 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T4 170-206 DiseaseOrPhenotypicFeature denotes mitochondrial DNA depletion disorder
T5 368-372 GeneOrGeneProduct denotes POLG
T6 396-424 GeneOrGeneProduct denotes mitochondrial DNA polymerase
T7 426-435 GeneOrGeneProduct denotes pol gamma
T8 443-451 OrganismTaxon denotes patients
T9 457-472 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T10 569-573 GeneOrGeneProduct denotes POLG
T11 758-765 OrganismTaxon denotes patient
T12 771-786 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T13 807-821 SequenceVariant denotes E873stop/A467T
T14 906-911 SequenceVariant denotes A467T
T15 1039-1047 SequenceVariant denotes E873-TAG
T16 1147-1156 GeneOrGeneProduct denotes pol gamma
T17 1372-1376 GeneOrGeneProduct denotes POLG
T18 1422-1427 SequenceVariant denotes A467T
T19 1468-1476 SequenceVariant denotes E873stop
T20 1527-1531 GeneOrGeneProduct denotes POLG
T21 1575-1580 SequenceVariant denotes A467T
T22 1604-1620 DiseaseOrPhenotypicFeature denotes Alpers phenotype
T23 1629-1636 OrganismTaxon denotes patient
T24 1689-1694 SequenceVariant denotes A467T
T25 1756-1764 SequenceVariant denotes E873stop

biored-valid-gemini-r-m

Id Subject Object Predicate Lexical cue
T1 13-17 GeneOrGeneProduct denotes POLG
T2 98-105 OrganismTaxon denotes patient
T3 111-126 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T4 170-206 DiseaseOrPhenotypicFeature denotes mitochondrial DNA depletion disorder
T5 220-228 OrganismTaxon denotes children
T6 233-245 OrganismTaxon denotes young adults
T7 291-314 DiseaseOrPhenotypicFeature denotes brain and liver disease
T8 368-372 GeneOrGeneProduct denotes POLG
T9 396-424 GeneOrGeneProduct denotes mitochondrial DNA polymerase
T10 426-435 GeneOrGeneProduct denotes pol gamma
T11 443-451 OrganismTaxon denotes patients
T12 457-472 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T13 569-573 GeneOrGeneProduct denotes POLG
T14 741-752 CellLine denotes fibroblasts
T15 758-765 OrganismTaxon denotes patient
T16 771-786 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T17 807-815 SequenceVariant denotes E873stop
T18 816-821 SequenceVariant denotes A467T
T19 932-965 SequenceVariant denotes threonine to alanine substitution
T20 1039-1047 SequenceVariant denotes E873-TAG
T21 1147-1156 GeneOrGeneProduct denotes pol gamma
T22 1372-1381 GeneOrGeneProduct denotes POLG mRNA
T23 1422-1427 SequenceVariant denotes A467T
T24 1468-1476 SequenceVariant denotes E873stop
T25 1604-1620 DiseaseOrPhenotypicFeature denotes Alpers phenotype
T26 1629-1636 OrganismTaxon denotes patient

biored-valid-deepseek-r-m

Id Subject Object Predicate Lexical cue
T1 13-17 GeneOrGeneProduct denotes POLG
T2 111-126 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T3 128-143 DiseaseOrPhenotypicFeature denotes Alpers syndrome
T4 368-372 GeneOrGeneProduct denotes POLG
T5 426-435 GeneOrGeneProduct denotes pol gamma
T6 569-573 GeneOrGeneProduct denotes POLG
T7 807-815 SequenceVariant denotes E873stop
T8 816-821 SequenceVariant denotes A467T
T9 885-888 SequenceVariant denotes TAG
T10 1604-1620 DiseaseOrPhenotypicFeature denotes Alpers phenotype