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PubMed:24014394 JSONTXT

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LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 417-422 OrganismTaxon denotes human NCBItxid:9606

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-157 Sentence denotes A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.
T2 158-406 Sentence denotes Mutations in nuclear genes associated with defective complex III (cIII) of the mitochondrial respiratory chain are rare, having been found in only two cIII assembly factors and, as private changes in single families, three cIII structural subunits.
T3 407-518 Sentence denotes Recently, human LYRM7/MZM1L, the ortholog of yeast MZM1, has been identified as a new assembly factor for cIII.
T4 519-817 Sentence denotes In a baby patient with early onset, severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle, we identified a disease-segregating homozygous mutation (c.73G>A) in LYRM7/MZM1L, predicting a drastic change in a highly conserved amino-acid residue (p.Asp25Asn).
T5 818-1080 Sentence denotes In a mzm1Δ yeast strain, the expression of a mzm1(D25N) mutant allele caused temperature-sensitive respiratory growth defect, decreased oxygen consumption, impaired maturation/stabilization of the Rieske Fe-S protein, and reduced complex III activity and amount.
T6 1081-1191 Sentence denotes LYRM7/MZM1L is a novel disease gene, causing cIII-defective, early onset, severe mitochondrial encephalopathy.

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
9356 25-30 GeneOrGeneProduct denotes LYRM7 NCBIGene:90624
9357 31-36 GeneOrGeneProduct denotes MZM1L NCBIGene:90624
9358 65-79 DiseaseOrPhenotypicFeature denotes encephalopathy MESH:D001927
9359 81-96 DiseaseOrPhenotypicFeature denotes lactic acidosis MESH:D000140
9360 109-147 DiseaseOrPhenotypicFeature denotes reduction of mitochondrial complex III MESH:C565128
9361 201-250 DiseaseOrPhenotypicFeature denotes defective complex III (cIII) of the mitochondrial MESH:C565128
9362 309-313 GeneOrGeneProduct denotes cIII NCBIGene:617
9363 381-385 GeneOrGeneProduct denotes cIII NCBIGene:617
9364 417-422 OrganismTaxon denotes human NCBITaxon:9606
9365 423-428 GeneOrGeneProduct denotes LYRM7 NCBIGene:90624
9366 429-434 GeneOrGeneProduct denotes MZM1L NCBIGene:90624
9367 452-457 OrganismTaxon denotes yeast NCBITaxon:4932
9368 458-462 GeneOrGeneProduct denotes MZM1 NCBIGene:852104
9369 513-517 GeneOrGeneProduct denotes cIII NCBIGene:617
9370 529-536 OrganismTaxon denotes patient NCBITaxon:9606
9371 562-576 DiseaseOrPhenotypicFeature denotes encephalopathy MESH:D001927
9372 578-593 DiseaseOrPhenotypicFeature denotes lactic acidosis MESH:D000140
9373 617-632 DiseaseOrPhenotypicFeature denotes cIII deficiency MESH:C565128
9374 710-717 SequenceVariant denotes c.73G>A DBSNP:rs587777433
9375 722-727 GeneOrGeneProduct denotes LYRM7 NCBIGene:90624
9376 728-733 GeneOrGeneProduct denotes MZM1L NCBIGene:90624
9377 805-815 SequenceVariant denotes p.Asp25Asn DBSNP:rs587777433
9378 823-828 GeneOrGeneProduct denotes mzm1Δ NCBIGene:852104
9379 829-834 OrganismTaxon denotes yeast NCBITaxon:4932
9380 863-867 GeneOrGeneProduct denotes mzm1 NCBIGene:852104
9381 868-872 SequenceVariant denotes D25N DBSNP:rs587777433
9382 917-942 DiseaseOrPhenotypicFeature denotes respiratory growth defect MESH:D012131
9383 954-960 ChemicalEntity denotes oxygen MESH:D010100
9384 1015-1034 GeneOrGeneProduct denotes Rieske Fe-S protein NCBIGene:856689
9385 1048-1059 GeneOrGeneProduct denotes complex III NCBIGene:617
9386 1081-1086 GeneOrGeneProduct denotes LYRM7 NCBIGene:90624
9387 1087-1092 GeneOrGeneProduct denotes MZM1L NCBIGene:90624
9388 1126-1140 DiseaseOrPhenotypicFeature denotes cIII-defective MESH:C565128
9389 1162-1190 DiseaseOrPhenotypicFeature denotes mitochondrial encephalopathy MESH:C538525

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 81-96 DiseaseOrPhenotypicFeature denotes lactic acidosis 0006040
T2 273-277 DiseaseOrPhenotypicFeature denotes rare 0021136
T3 578-593 DiseaseOrPhenotypicFeature denotes lactic acidosis 0006040

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 710-717 SequenceVariant denotes c.73G>A
T2 805-815 SequenceVariant denotes p.Asp25Asn
T3 868-872 SequenceVariant denotes D25N

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 13-21 GeneOrGeneProduct denotes mutation
T2 25-30 GeneOrGeneProduct denotes LYRM7
T3 31-36 GeneOrGeneProduct denotes MZM1L
T4 53-58 GeneOrGeneProduct denotes early
T5 122-135 GeneOrGeneProduct denotes mitochondrial
T6 136-147 GeneOrGeneProduct denotes complex III
T7 148-156 GeneOrGeneProduct denotes activity
T8 158-167 GeneOrGeneProduct denotes Mutations
T9 201-210 GeneOrGeneProduct denotes defective
T10 211-222 GeneOrGeneProduct denotes complex III
T11 224-228 GeneOrGeneProduct denotes cIII
T12 237-250 GeneOrGeneProduct denotes mitochondrial
T13 263-268 GeneOrGeneProduct denotes chain
T14 273-277 GeneOrGeneProduct denotes rare
T15 309-313 GeneOrGeneProduct denotes cIII
T16 314-322 GeneOrGeneProduct denotes assembly
T17 323-330 GeneOrGeneProduct denotes factors
T18 381-385 GeneOrGeneProduct denotes cIII
T19 423-428 GeneOrGeneProduct denotes LYRM7
T20 429-434 GeneOrGeneProduct denotes MZM1L
T21 452-457 GeneOrGeneProduct denotes yeast
T22 458-462 GeneOrGeneProduct denotes MZM1
T23 493-501 GeneOrGeneProduct denotes assembly
T24 502-508 GeneOrGeneProduct denotes factor
T25 513-517 GeneOrGeneProduct denotes cIII
T26 524-528 GeneOrGeneProduct denotes baby
T27 542-547 GeneOrGeneProduct denotes early
T28 617-621 GeneOrGeneProduct denotes cIII
T29 636-651 GeneOrGeneProduct denotes skeletal muscle
T30 700-708 GeneOrGeneProduct denotes mutation
T31 722-727 GeneOrGeneProduct denotes LYRM7
T32 728-733 GeneOrGeneProduct denotes MZM1L
T33 735-745 GeneOrGeneProduct denotes predicting
T34 763-767 GeneOrGeneProduct denotes in a
T35 768-774 GeneOrGeneProduct denotes highly
T36 775-784 GeneOrGeneProduct denotes conserved
T37 791-795 GeneOrGeneProduct denotes acid
T38 823-827 GeneOrGeneProduct denotes mzm1
T39 829-834 GeneOrGeneProduct denotes yeast
T40 863-867 GeneOrGeneProduct denotes mzm1
T41 874-880 GeneOrGeneProduct denotes mutant
T42 929-935 GeneOrGeneProduct denotes growth
T43 936-942 GeneOrGeneProduct denotes defect
T44 983-993 GeneOrGeneProduct denotes maturation
T45 1015-1034 GeneOrGeneProduct denotes Rieske Fe-S protein
T46 1040-1047 GeneOrGeneProduct denotes reduced
T47 1048-1059 GeneOrGeneProduct denotes complex III
T48 1060-1068 GeneOrGeneProduct denotes activity
T49 1081-1086 GeneOrGeneProduct denotes LYRM7
T50 1087-1092 GeneOrGeneProduct denotes MZM1L
T51 1098-1103 GeneOrGeneProduct denotes novel
T52 1126-1130 GeneOrGeneProduct denotes cIII
T53 1131-1140 GeneOrGeneProduct denotes defective
T54 1142-1147 GeneOrGeneProduct denotes early
T55 1162-1175 GeneOrGeneProduct denotes mitochondrial

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 25-30 GeneOrGeneProduct denotes LYRM7
T2 31-36 GeneOrGeneProduct denotes MZM1L
T3 53-58 GeneOrGeneProduct denotes early
T4 122-135 GeneOrGeneProduct denotes mitochondrial
T5 136-147 GeneOrGeneProduct denotes complex III
T6 201-210 GeneOrGeneProduct denotes defective
T7 211-222 GeneOrGeneProduct denotes complex III
T8 224-228 GeneOrGeneProduct denotes cIII
T9 237-250 GeneOrGeneProduct denotes mitochondrial
T10 263-268 GeneOrGeneProduct denotes chain
T11 273-277 GeneOrGeneProduct denotes rare
T12 309-313 GeneOrGeneProduct denotes cIII
T13 314-322 GeneOrGeneProduct denotes assembly
T14 381-385 GeneOrGeneProduct denotes cIII
T15 423-428 GeneOrGeneProduct denotes LYRM7
T16 429-434 GeneOrGeneProduct denotes MZM1L
T17 452-457 GeneOrGeneProduct denotes yeast
T18 458-462 GeneOrGeneProduct denotes MZM1
T19 493-501 GeneOrGeneProduct denotes assembly
T20 502-508 GeneOrGeneProduct denotes factor
T21 513-517 GeneOrGeneProduct denotes cIII
T22 542-547 GeneOrGeneProduct denotes early
T23 617-621 GeneOrGeneProduct denotes cIII
T24 636-651 GeneOrGeneProduct denotes skeletal muscle
T25 722-727 GeneOrGeneProduct denotes LYRM7
T26 728-733 GeneOrGeneProduct denotes MZM1L
T27 775-784 GeneOrGeneProduct denotes conserved
T28 791-795 GeneOrGeneProduct denotes acid
T29 829-834 GeneOrGeneProduct denotes yeast
T30 874-880 GeneOrGeneProduct denotes mutant
T31 929-935 GeneOrGeneProduct denotes growth
T32 983-993 GeneOrGeneProduct denotes maturation
T33 1015-1034 GeneOrGeneProduct denotes Rieske Fe-S protein
T34 1040-1047 GeneOrGeneProduct denotes reduced
T35 1048-1059 GeneOrGeneProduct denotes complex III
T36 1081-1086 GeneOrGeneProduct denotes LYRM7
T37 1087-1092 GeneOrGeneProduct denotes MZM1L
T38 1098-1103 GeneOrGeneProduct denotes novel
T39 1126-1130 GeneOrGeneProduct denotes cIII
T40 1131-1140 GeneOrGeneProduct denotes defective
T41 1142-1147 GeneOrGeneProduct denotes early
T42 1162-1175 GeneOrGeneProduct denotes mitochondrial

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 65-79 DiseaseOrPhenotypicFeature denotes encephalopathy D001927
T2 81-96 DiseaseOrPhenotypicFeature denotes lactic acidosis D000140
T3 562-576 DiseaseOrPhenotypicFeature denotes encephalopathy D001927
T4 578-593 DiseaseOrPhenotypicFeature denotes lactic acidosis D000140
T5 669-676 DiseaseOrPhenotypicFeature denotes disease D004194
T6 835-841 DiseaseOrPhenotypicFeature denotes strain D013180
T7 1104-1111 DiseaseOrPhenotypicFeature denotes disease D004194
T8 1162-1190 DiseaseOrPhenotypicFeature denotes mitochondrial encephalopathy C538525

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 25-30 GeneOrGeneProduct denotes LYRM7
T2 31-36 GeneOrGeneProduct denotes MZM1L
T3 423-428 GeneOrGeneProduct denotes LYRM7
T4 429-434 GeneOrGeneProduct denotes MZM1L
T5 458-462 GeneOrGeneProduct denotes MZM1
T6 722-727 GeneOrGeneProduct denotes LYRM7
T7 728-733 GeneOrGeneProduct denotes MZM1L
T8 1015-1034 GeneOrGeneProduct denotes Rieske Fe-S protein
T9 1081-1086 GeneOrGeneProduct denotes LYRM7
T10 1087-1092 GeneOrGeneProduct denotes MZM1L

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 81-96 DiseaseOrPhenotypicFeature denotes lactic acidosis 0024306|0006040
T3 578-593 DiseaseOrPhenotypicFeature denotes lactic acidosis 0024306|0006040
T5 907-916 DiseaseOrPhenotypicFeature denotes sensitive 0000605
T6 936-942 DiseaseOrPhenotypicFeature denotes defect 0008568

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 65-79 DiseaseOrPhenotypicFeature denotes encephalopathy D001927
T2 81-96 DiseaseOrPhenotypicFeature denotes lactic acidosis D000140
T3 109-147 DiseaseOrPhenotypicFeature denotes reduction of mitochondrial complex III DISEASE
T4 562-576 DiseaseOrPhenotypicFeature denotes encephalopathy D001927
T5 578-593 DiseaseOrPhenotypicFeature denotes lactic acidosis D000140
T6 617-632 DiseaseOrPhenotypicFeature denotes cIII deficiency DISEASE
T7 669-676 DiseaseOrPhenotypicFeature denotes disease D004194
T8 835-841 DiseaseOrPhenotypicFeature denotes strain D013180
T9 917-942 DiseaseOrPhenotypicFeature denotes respiratory growth defect DISEASE
T10 1104-1111 DiseaseOrPhenotypicFeature denotes disease D004194
T11 1126-1140 DiseaseOrPhenotypicFeature denotes cIII-defective DISEASE
T12 1162-1190 DiseaseOrPhenotypicFeature denotes mitochondrial encephalopathy C538525

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 65-79 DiseaseOrPhenotypicFeature denotes encephalopathy D001927
T2 81-96 DiseaseOrPhenotypicFeature denotes lactic acidosis D000140
T3 109-147 DiseaseOrPhenotypicFeature denotes reduction of mitochondrial complex III DISEASE
T4 562-576 DiseaseOrPhenotypicFeature denotes encephalopathy D001927
T5 578-593 DiseaseOrPhenotypicFeature denotes lactic acidosis D000140
T6 617-632 DiseaseOrPhenotypicFeature denotes cIII deficiency DISEASE
T7 917-942 DiseaseOrPhenotypicFeature denotes respiratory growth defect DISEASE
T8 1126-1140 DiseaseOrPhenotypicFeature denotes cIII-defective DISEASE
T9 1162-1190 DiseaseOrPhenotypicFeature denotes mitochondrial encephalopathy C538525

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 785-803 ChemicalEntity denotes amino-acid residue http://purl.obolibrary.org/obo/CHEBI_33708
T2 954-960 ChemicalEntity denotes oxygen D010100|http://purl.obolibrary.org/obo/CHEBI_25805
T4 1022-1034 ChemicalEntity denotes Fe-S protein http://purl.obolibrary.org/obo/CHEBI_35135

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 417-422 OrganismTaxon denotes human
T2 529-536 OrganismTaxon denotes patient

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T4 1022-1034 ChemicalEntity denotes Fe-S protein http://purl.obolibrary.org/obo/CHEBI_35135
T2 954-960 ChemicalEntity denotes oxygen http://purl.obolibrary.org/obo/CHEBI_25805|D010100
T1 785-803 ChemicalEntity denotes amino-acid residue http://purl.obolibrary.org/obo/CHEBI_33708
T10 1087-1092 GeneOrGeneProduct denotes MZM1L
T9 1081-1086 GeneOrGeneProduct denotes LYRM7
T8 1015-1034 GeneOrGeneProduct denotes Rieske Fe-S protein
T7 728-733 GeneOrGeneProduct denotes MZM1L
T6 722-727 GeneOrGeneProduct denotes LYRM7
T5 458-462 GeneOrGeneProduct denotes MZM1
T72407 429-434 GeneOrGeneProduct denotes MZM1L
T3 423-428 GeneOrGeneProduct denotes LYRM7
T40900 31-36 GeneOrGeneProduct denotes MZM1L
T87827 25-30 GeneOrGeneProduct denotes LYRM7
T70622 1162-1190 DiseaseOrPhenotypicFeature denotes mitochondrial encephalopathy C538525
T48422 1126-1140 DiseaseOrPhenotypicFeature denotes cIII-defective DISEASE
T795 917-942 DiseaseOrPhenotypicFeature denotes respiratory growth defect DISEASE
T65433 617-632 DiseaseOrPhenotypicFeature denotes cIII deficiency DISEASE
T64243 578-593 DiseaseOrPhenotypicFeature denotes lactic acidosis D000140
T34407 562-576 DiseaseOrPhenotypicFeature denotes encephalopathy D001927
T41524 109-147 DiseaseOrPhenotypicFeature denotes reduction of mitochondrial complex III DISEASE
T36137 81-96 DiseaseOrPhenotypicFeature denotes lactic acidosis D000140
T43885 65-79 DiseaseOrPhenotypicFeature denotes encephalopathy D001927
T12513 529-536 OrganismTaxon denotes patient
T98784 417-422 OrganismTaxon denotes human
T86911 868-872 SequenceVariant denotes D25N
T45775 805-815 SequenceVariant denotes p.Asp25Asn
T18513 710-717 SequenceVariant denotes c.73G>A

DisGeNET

Id Subject Object Predicate Lexical cue
T0 25-30 gene:90624 denotes LYRM7
T1 65-79 disease:C0085584 denotes encephalopathy
T2 31-36 gene:90624 denotes MZM1L
T3 65-79 disease:C0085584 denotes encephalopathy
R1 T0 T1 associated_with LYRM7,encephalopathy
R2 T2 T3 associated_with MZM1L,encephalopathy

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 237-250 HP_0001427 denotes mitochondrial
T2 562-576 HP_0001298 denotes encephalopathy
T3 578-593 HP_0003128 denotes lactic acidosis
T4 585-593 HP_0001941 denotes acidosis
T5 929-942 HP_0001507 denotes growth defect
T6 1162-1175 HP_0001427 denotes mitochondrial
T7 1162-1190 HP_0006789 denotes mitochondrial encephalopathy
T8 1176-1190 HP_0001298 denotes encephalopathy

Allie

Id Subject Object Predicate Lexical cue
SS1_24014394_1_0 211-222 expanded denotes complex III
SS2_24014394_1_0 224-228 abbr denotes cIII
AE1_24014394_1_0 SS1_24014394_1_0 SS2_24014394_1_0 abbreviatedTo complex III,cIII

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
24014394-0#31#36#gene90624 31-36 gene90624 denotes MZM1L
24014394-0#65#79#diseaseC0006111 65-79 diseaseC0006111 denotes encephalopathy
24014394-0#65#79#diseaseC0085584 65-79 diseaseC0085584 denotes encephalopathy
24014394-5#6#11#gene90624 1087-1092 gene90624 denotes MZM1L
24014394-5#81#109#diseaseC1852373 1162-1190 diseaseC1852373 denotes mitochondrial encephalopathy
31#36#gene9062465#79#diseaseC0006111 24014394-0#31#36#gene90624 24014394-0#65#79#diseaseC0006111 associated_with MZM1L,encephalopathy
31#36#gene9062465#79#diseaseC0085584 24014394-0#31#36#gene90624 24014394-0#65#79#diseaseC0085584 associated_with MZM1L,encephalopathy
6#11#gene9062481#109#diseaseC1852373 24014394-5#6#11#gene90624 24014394-5#81#109#diseaseC1852373 associated_with MZM1L,mitochondrial encephalopathy

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 65-79 HP:0001298 denotes encephalopathy
TI2 81-96 HP:0003128 denotes lactic acidosis
AB1 562-576 HP:0001298 denotes encephalopathy
AB2 578-593 HP:0003128 denotes lactic acidosis
AB3 1162-1190 HP:0006789 denotes mitochondrial encephalopathy