PubMed:24014394
Annnotations
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 |
biored-valid-deepseek-nr-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-30 | GeneOrGeneProduct | denotes | LYRM7 |
| T2 | 31-36 | GeneOrGeneProduct | denotes | MZM1L |
| T3 | 53-79 | DiseaseOrPhenotypicFeature | denotes | early onset encephalopathy |
| T4 | 81-96 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T5 | 122-147 | ChemicalEntity | denotes | mitochondrial complex III |
| T6 | 211-229 | ChemicalEntity | denotes | complex III (cIII) |
| T7 | 237-268 | ChemicalEntity | denotes | mitochondrial respiratory chain |
| T8 | 309-313 | ChemicalEntity | denotes | cIII |
| T9 | 423-428 | GeneOrGeneProduct | denotes | LYRM7 |
| T10 | 429-434 | GeneOrGeneProduct | denotes | MZM1L |
| T11 | 452-457 | OrganismTaxon | denotes | yeast |
| T12 | 513-517 | ChemicalEntity | denotes | cIII |
| T13 | 542-576 | DiseaseOrPhenotypicFeature | denotes | early onset, severe encephalopathy |
| T14 | 578-593 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T15 | 617-621 | ChemicalEntity | denotes | cIII |
| T16 | 710-717 | SequenceVariant | denotes | c.73G>A |
| T17 | 722-727 | GeneOrGeneProduct | denotes | LYRM7 |
| T18 | 728-733 | GeneOrGeneProduct | denotes | MZM1L |
| T19 | 805-815 | SequenceVariant | denotes | p.Asp25Asn |
| T20 | 823-834 | OrganismTaxon | denotes | mzm1Δ yeast |
| T21 | 863-880 | SequenceVariant | denotes | mzm1(D25N) mutant |
| T22 | 1015-1034 | ChemicalEntity | denotes | Rieske Fe-S protein |
| T23 | 1081-1086 | GeneOrGeneProduct | denotes | LYRM7 |
| T24 | 1087-1092 | GeneOrGeneProduct | denotes | MZM1L |
| T25 | 1126-1130 | ChemicalEntity | denotes | cIII |
| T26 | 1142-1190 | DiseaseOrPhenotypicFeature | denotes | early onset, severe mitochondrial encephalopathy |
biored-valid
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-30 | GeneOrGeneProduct | denotes | LYRM7 |
| T2 | 31-36 | GeneOrGeneProduct | denotes | MZM1L |
| T3 | 65-79 | DiseaseOrPhenotypicFeature | denotes | encephalopathy |
| T4 | 81-96 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T5 | 109-147 | DiseaseOrPhenotypicFeature | denotes | reduction of mitochondrial complex III |
| T6 | 201-250 | DiseaseOrPhenotypicFeature | denotes | defective complex III (cIII) of the mitochondrial |
| T7 | 309-313 | GeneOrGeneProduct | denotes | cIII |
| T8 | 381-385 | GeneOrGeneProduct | denotes | cIII |
| T9 | 417-422 | OrganismTaxon | denotes | human |
| T10 | 423-428 | GeneOrGeneProduct | denotes | LYRM7 |
| T11 | 429-434 | GeneOrGeneProduct | denotes | MZM1L |
| T12 | 452-457 | OrganismTaxon | denotes | yeast |
| T13 | 458-462 | GeneOrGeneProduct | denotes | MZM1 |
| T14 | 513-517 | GeneOrGeneProduct | denotes | cIII |
| T15 | 529-536 | OrganismTaxon | denotes | patient |
| T16 | 562-576 | DiseaseOrPhenotypicFeature | denotes | encephalopathy |
| T17 | 578-593 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T18 | 617-632 | DiseaseOrPhenotypicFeature | denotes | cIII deficiency |
| T19 | 710-717 | SequenceVariant | denotes | c.73G>A |
| T20 | 722-727 | GeneOrGeneProduct | denotes | LYRM7 |
| T21 | 728-733 | GeneOrGeneProduct | denotes | MZM1L |
| T22 | 805-815 | SequenceVariant | denotes | p.Asp25Asn |
| T23 | 823-828 | GeneOrGeneProduct | denotes | mzm1Δ |
| T24 | 829-834 | OrganismTaxon | denotes | yeast |
| T25 | 863-867 | GeneOrGeneProduct | denotes | mzm1 |
| T26 | 868-872 | SequenceVariant | denotes | D25N |
| T27 | 917-942 | DiseaseOrPhenotypicFeature | denotes | respiratory growth defect |
| T28 | 954-960 | ChemicalEntity | denotes | oxygen |
| T29 | 1015-1034 | GeneOrGeneProduct | denotes | Rieske Fe-S protein |
| T30 | 1048-1059 | GeneOrGeneProduct | denotes | complex III |
| T31 | 1081-1086 | GeneOrGeneProduct | denotes | LYRM7 |
| T32 | 1087-1092 | GeneOrGeneProduct | denotes | MZM1L |
| T33 | 1126-1140 | DiseaseOrPhenotypicFeature | denotes | cIII-defective |
| T34 | 1162-1190 | DiseaseOrPhenotypicFeature | denotes | mitochondrial encephalopathy |
biored-valid-deepseek-nr-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-30 | GeneOrGeneProduct | denotes | LYRM7 |
| T2 | 31-36 | GeneOrGeneProduct | denotes | MZM1L |
| T3 | 53-79 | DiseaseOrPhenotypicFeature | denotes | early onset encephalopathy |
| T4 | 81-96 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T5 | 122-147 | GeneOrGeneProduct | denotes | mitochondrial complex III |
| T6 | 211-222 | GeneOrGeneProduct | denotes | complex III |
| T7 | 237-250 | OrganismTaxon | denotes | mitochondrial |
| T8 | 314-322 | GeneOrGeneProduct | denotes | assembly |
| T9 | 423-428 | GeneOrGeneProduct | denotes | LYRM7 |
| T10 | 429-434 | GeneOrGeneProduct | denotes | MZM1L |
| T11 | 452-457 | OrganismTaxon | denotes | yeast |
| T12 | 542-576 | DiseaseOrPhenotypicFeature | denotes | early onset, severe encephalopathy |
| T13 | 578-593 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T14 | 710-717 | SequenceVariant | denotes | c.73G>A |
| T15 | 722-727 | GeneOrGeneProduct | denotes | LYRM7 |
| T16 | 728-733 | GeneOrGeneProduct | denotes | MZM1L |
| T17 | 805-815 | SequenceVariant | denotes | p.Asp25Asn |
| T18 | 823-828 | GeneOrGeneProduct | denotes | mzm1Δ |
| T19 | 863-873 | SequenceVariant | denotes | mzm1(D25N) |
| T20 | 1015-1034 | GeneOrGeneProduct | denotes | Rieske Fe-S protein |
| T21 | 1048-1059 | GeneOrGeneProduct | denotes | complex III |
| T22 | 1142-1190 | DiseaseOrPhenotypicFeature | denotes | early onset, severe mitochondrial encephalopathy |
biored-valid-deepseek-r-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-36 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T2 | 53-79 | DiseaseOrPhenotypicFeature | denotes | early onset encephalopathy |
| T3 | 81-96 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T4 | 417-422 | OrganismTaxon | denotes | human |
| T5 | 423-434 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T6 | 452-457 | OrganismTaxon | denotes | yeast |
| T7 | 617-632 | DiseaseOrPhenotypicFeature | denotes | cIII deficiency |
| T8 | 689-708 | SequenceVariant | denotes | homozygous mutation |
| T9 | 710-717 | SequenceVariant | denotes | c.73G>A |
| T10 | 722-733 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T11 | 805-815 | SequenceVariant | denotes | p.Asp25Asn |
| T12 | 823-828 | GeneOrGeneProduct | denotes | mzm1Δ |
| T13 | 829-834 | OrganismTaxon | denotes | yeast |
| T14 | 863-873 | GeneOrGeneProduct | denotes | mzm1(D25N) |
| T15 | 1015-1034 | GeneOrGeneProduct | denotes | Rieske Fe-S protein |
| T16 | 1081-1092 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T17 | 1162-1190 | DiseaseOrPhenotypicFeature | denotes | mitochondrial encephalopathy |
biored-valid-deepseek-r-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-36 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T2 | 53-79 | DiseaseOrPhenotypicFeature | denotes | early onset encephalopathy |
| T3 | 81-96 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T4 | 417-422 | OrganismTaxon | denotes | human |
| T5 | 423-434 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T6 | 452-457 | OrganismTaxon | denotes | yeast |
| T7 | 542-576 | DiseaseOrPhenotypicFeature | denotes | early onset, severe encephalopathy |
| T8 | 578-593 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T9 | 710-717 | SequenceVariant | denotes | c.73G>A |
| T10 | 722-733 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T11 | 805-815 | SequenceVariant | denotes | p.Asp25Asn |
| T12 | 829-834 | OrganismTaxon | denotes | yeast |
| T13 | 863-873 | SequenceVariant | denotes | mzm1(D25N) |
| T14 | 1015-1034 | GeneOrGeneProduct | denotes | Rieske Fe-S protein |
| T15 | 1081-1092 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T16 | 1162-1190 | DiseaseOrPhenotypicFeature | denotes | mitochondrial encephalopathy |
biored-valid-gemini-nr-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-36 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T2 | 53-79 | DiseaseOrPhenotypicFeature | denotes | early onset encephalopathy |
| T3 | 81-96 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T4 | 102-156 | DiseaseOrPhenotypicFeature | denotes | severe reduction of mitochondrial complex III activity |
| T5 | 201-222 | DiseaseOrPhenotypicFeature | denotes | defective complex III |
| T6 | 224-228 | GeneOrGeneProduct | denotes | cIII |
| T7 | 237-268 | GeneOrGeneProduct | denotes | mitochondrial respiratory chain |
| T8 | 309-313 | GeneOrGeneProduct | denotes | cIII |
| T9 | 381-385 | GeneOrGeneProduct | denotes | cIII |
| T10 | 417-434 | GeneOrGeneProduct | denotes | human LYRM7/MZM1L |
| T11 | 452-462 | GeneOrGeneProduct | denotes | yeast MZM1 |
| T12 | 513-517 | GeneOrGeneProduct | denotes | cIII |
| T13 | 578-593 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T14 | 598-632 | DiseaseOrPhenotypicFeature | denotes | profound, isolated cIII deficiency |
| T15 | 710-717 | SequenceVariant | denotes | c.73G>A |
| T16 | 722-733 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T17 | 805-815 | SequenceVariant | denotes | p.Asp25Asn |
| T18 | 823-828 | GeneOrGeneProduct | denotes | mzm1Δ |
| T19 | 829-834 | OrganismTaxon | denotes | yeast |
| T20 | 863-873 | GeneOrGeneProduct | denotes | mzm1(D25N) |
| T21 | 917-942 | DiseaseOrPhenotypicFeature | denotes | respiratory growth defect |
| T22 | 944-972 | DiseaseOrPhenotypicFeature | denotes | decreased oxygen consumption |
| T23 | 974-1034 | DiseaseOrPhenotypicFeature | denotes | impaired maturation/stabilization of the Rieske Fe-S protein |
| T24 | 1040-1079 | DiseaseOrPhenotypicFeature | denotes | reduced complex III activity and amount |
| T25 | 1081-1092 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T26 | 1126-1140 | DiseaseOrPhenotypicFeature | denotes | cIII-defective |
| T27 | 1155-1190 | DiseaseOrPhenotypicFeature | denotes | severe mitochondrial encephalopathy |
biored-valid-gemini-r-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-36 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T2 | 53-79 | DiseaseOrPhenotypicFeature | denotes | early onset encephalopathy |
| T3 | 81-96 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T4 | 122-147 | GeneOrGeneProduct | denotes | mitochondrial complex III |
| T5 | 211-222 | GeneOrGeneProduct | denotes | complex III |
| T6 | 224-228 | GeneOrGeneProduct | denotes | cIII |
| T7 | 309-330 | GeneOrGeneProduct | denotes | cIII assembly factors |
| T8 | 381-405 | GeneOrGeneProduct | denotes | cIII structural subunits |
| T9 | 417-422 | OrganismTaxon | denotes | human |
| T10 | 423-434 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T11 | 452-457 | OrganismTaxon | denotes | yeast |
| T12 | 513-517 | GeneOrGeneProduct | denotes | cIII |
| T13 | 542-576 | DiseaseOrPhenotypicFeature | denotes | early onset, severe encephalopathy |
| T14 | 578-593 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T15 | 617-632 | DiseaseOrPhenotypicFeature | denotes | cIII deficiency |
| T16 | 710-717 | SequenceVariant | denotes | c.73G>A |
| T17 | 722-733 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T18 | 785-795 | ChemicalEntity | denotes | amino-acid |
| T19 | 805-815 | SequenceVariant | denotes | p.Asp25Asn |
| T20 | 823-827 | GeneOrGeneProduct | denotes | mzm1 |
| T21 | 829-834 | OrganismTaxon | denotes | yeast |
| T22 | 868-872 | SequenceVariant | denotes | D25N |
| T23 | 895-942 | DiseaseOrPhenotypicFeature | denotes | temperature-sensitive respiratory growth defect |
| T24 | 944-972 | DiseaseOrPhenotypicFeature | denotes | decreased oxygen consumption |
| T25 | 1015-1034 | GeneOrGeneProduct | denotes | Rieske Fe-S protein |
| T26 | 1048-1059 | GeneOrGeneProduct | denotes | complex III |
| T27 | 1081-1092 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T28 | 1126-1190 | DiseaseOrPhenotypicFeature | denotes | cIII-defective, early onset, severe mitochondrial encephalopathy |
biored-valid-gemini-r-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-36 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T2 | 53-79 | DiseaseOrPhenotypicFeature | denotes | early onset encephalopathy |
| T3 | 81-96 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T4 | 122-147 | GeneOrGeneProduct | denotes | mitochondrial complex III |
| T5 | 211-222 | GeneOrGeneProduct | denotes | complex III |
| T6 | 224-228 | GeneOrGeneProduct | denotes | cIII |
| T7 | 381-385 | GeneOrGeneProduct | denotes | cIII |
| T8 | 417-422 | OrganismTaxon | denotes | human |
| T9 | 423-434 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T10 | 452-457 | OrganismTaxon | denotes | yeast |
| T11 | 542-576 | DiseaseOrPhenotypicFeature | denotes | early onset, severe encephalopathy |
| T12 | 578-593 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T13 | 617-632 | DiseaseOrPhenotypicFeature | denotes | cIII deficiency |
| T14 | 709-718 | SequenceVariant | denotes | (c.73G>A) |
| T15 | 722-733 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T16 | 804-816 | SequenceVariant | denotes | (p.Asp25Asn) |
| T17 | 823-828 | SequenceVariant | denotes | mzm1Δ |
| T18 | 829-834 | OrganismTaxon | denotes | yeast |
| T19 | 863-873 | SequenceVariant | denotes | mzm1(D25N) |
| T20 | 895-942 | DiseaseOrPhenotypicFeature | denotes | temperature-sensitive respiratory growth defect |
| T21 | 944-972 | DiseaseOrPhenotypicFeature | denotes | decreased oxygen consumption |
| T22 | 974-1034 | DiseaseOrPhenotypicFeature | denotes | impaired maturation/stabilization of the Rieske Fe-S protein |
| T23 | 1048-1059 | GeneOrGeneProduct | denotes | complex III |
| T24 | 1081-1092 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T25 | 1126-1190 | DiseaseOrPhenotypicFeature | denotes | cIII-defective, early onset, severe mitochondrial encephalopathy |
biored-valid-gpt-nr-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-36 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T2 | 53-79 | DiseaseOrPhenotypicFeature | denotes | early onset encephalopathy |
| T3 | 81-96 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T4 | 102-156 | DiseaseOrPhenotypicFeature | denotes | severe reduction of mitochondrial complex III activity |
| T5 | 201-268 | DiseaseOrPhenotypicFeature | denotes | defective complex III (cIII) of the mitochondrial respiratory chain |
| T6 | 417-422 | OrganismTaxon | denotes | human |
| T7 | 423-434 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T8 | 452-457 | OrganismTaxon | denotes | yeast |
| T9 | 555-576 | DiseaseOrPhenotypicFeature | denotes | severe encephalopathy |
| T10 | 598-651 | DiseaseOrPhenotypicFeature | denotes | profound, isolated cIII deficiency in skeletal muscle |
| T11 | 710-717 | SequenceVariant | denotes | c.73G>A |
| T12 | 722-733 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T13 | 805-815 | SequenceVariant | denotes | p.Asp25Asn |
| T14 | 823-828 | SequenceVariant | denotes | mzm1Δ |
| T15 | 829-834 | OrganismTaxon | denotes | yeast |
| T16 | 863-873 | SequenceVariant | denotes | mzm1(D25N) |
| T17 | 895-942 | DiseaseOrPhenotypicFeature | denotes | temperature-sensitive respiratory growth defect |
| T18 | 944-972 | DiseaseOrPhenotypicFeature | denotes | decreased oxygen consumption |
| T19 | 1015-1034 | GeneOrGeneProduct | denotes | Rieske Fe-S protein |
| T20 | 1040-1079 | DiseaseOrPhenotypicFeature | denotes | reduced complex III activity and amount |
| T21 | 1081-1092 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T22 | 1126-1140 | DiseaseOrPhenotypicFeature | denotes | cIII-defective |
| T23 | 1142-1190 | DiseaseOrPhenotypicFeature | denotes | early onset, severe mitochondrial encephalopathy |
biored-valid-gpt-r-ng
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-36 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T2 | 53-79 | DiseaseOrPhenotypicFeature | denotes | early onset encephalopathy |
| T3 | 81-96 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T4 | 102-156 | DiseaseOrPhenotypicFeature | denotes | severe reduction of mitochondrial complex III activity |
| T5 | 201-268 | DiseaseOrPhenotypicFeature | denotes | defective complex III (cIII) of the mitochondrial respiratory chain |
| T6 | 309-313 | GeneOrGeneProduct | denotes | cIII |
| T7 | 381-385 | GeneOrGeneProduct | denotes | cIII |
| T8 | 417-422 | OrganismTaxon | denotes | human |
| T9 | 423-434 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T10 | 452-457 | OrganismTaxon | denotes | yeast |
| T11 | 513-517 | GeneOrGeneProduct | denotes | cIII |
| T12 | 542-553 | DiseaseOrPhenotypicFeature | denotes | early onset |
| T13 | 555-576 | DiseaseOrPhenotypicFeature | denotes | severe encephalopathy |
| T14 | 578-593 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T15 | 598-632 | DiseaseOrPhenotypicFeature | denotes | profound, isolated cIII deficiency |
| T16 | 710-717 | SequenceVariant | denotes | c.73G>A |
| T17 | 722-733 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T18 | 785-795 | ChemicalEntity | denotes | amino-acid |
| T19 | 805-815 | SequenceVariant | denotes | p.Asp25Asn |
| T20 | 823-841 | CellLine | denotes | mzm1Δ yeast strain |
| T21 | 863-873 | SequenceVariant | denotes | mzm1(D25N) |
| T22 | 895-942 | DiseaseOrPhenotypicFeature | denotes | temperature-sensitive respiratory growth defect |
| T23 | 944-972 | DiseaseOrPhenotypicFeature | denotes | decreased oxygen consumption |
| T24 | 974-1034 | DiseaseOrPhenotypicFeature | denotes | impaired maturation/stabilization of the Rieske Fe-S protein |
| T25 | 1040-1079 | DiseaseOrPhenotypicFeature | denotes | reduced complex III activity and amount |
| T26 | 1081-1092 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T27 | 1126-1130 | GeneOrGeneProduct | denotes | cIII |
biored-valid-gpt-r-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-36 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T2 | 65-79 | DiseaseOrPhenotypicFeature | denotes | encephalopathy |
| T3 | 81-96 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T4 | 109-156 | DiseaseOrPhenotypicFeature | denotes | reduction of mitochondrial complex III activity |
| T5 | 211-222 | GeneOrGeneProduct | denotes | complex III |
| T6 | 224-228 | GeneOrGeneProduct | denotes | cIII |
| T7 | 309-313 | GeneOrGeneProduct | denotes | cIII |
| T8 | 381-385 | GeneOrGeneProduct | denotes | cIII |
| T9 | 417-422 | OrganismTaxon | denotes | human |
| T10 | 423-434 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T11 | 513-517 | GeneOrGeneProduct | denotes | cIII |
| T12 | 562-576 | DiseaseOrPhenotypicFeature | denotes | encephalopathy |
| T13 | 578-593 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T14 | 617-621 | GeneOrGeneProduct | denotes | cIII |
| T15 | 710-717 | SequenceVariant | denotes | c.73G>A |
| T16 | 722-733 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T17 | 805-815 | SequenceVariant | denotes | p.Asp25Asn |
| T18 | 823-828 | SequenceVariant | denotes | mzm1Δ |
| T19 | 863-873 | SequenceVariant | denotes | mzm1(D25N) |
| T20 | 954-960 | ChemicalEntity | denotes | oxygen |
| T21 | 1015-1034 | GeneOrGeneProduct | denotes | Rieske Fe-S protein |
| T22 | 1048-1059 | GeneOrGeneProduct | denotes | complex III |
| T23 | 1081-1092 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T24 | 1126-1130 | GeneOrGeneProduct | denotes | cIII |
| T25 | 1162-1190 | DiseaseOrPhenotypicFeature | denotes | mitochondrial encephalopathy |
biored-valid-gpt-nr-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-36 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T2 | 53-79 | DiseaseOrPhenotypicFeature | denotes | early onset encephalopathy |
| T3 | 81-96 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T4 | 136-147 | GeneOrGeneProduct | denotes | complex III |
| T5 | 211-222 | GeneOrGeneProduct | denotes | complex III |
| T6 | 224-228 | GeneOrGeneProduct | denotes | cIII |
| T7 | 309-313 | GeneOrGeneProduct | denotes | cIII |
| T8 | 381-385 | GeneOrGeneProduct | denotes | cIII |
| T9 | 417-422 | OrganismTaxon | denotes | human |
| T10 | 423-434 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T11 | 452-457 | OrganismTaxon | denotes | yeast |
| T12 | 513-517 | GeneOrGeneProduct | denotes | cIII |
| T13 | 555-576 | DiseaseOrPhenotypicFeature | denotes | severe encephalopathy |
| T14 | 578-593 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T15 | 608-632 | DiseaseOrPhenotypicFeature | denotes | isolated cIII deficiency |
| T16 | 710-717 | SequenceVariant | denotes | c.73G>A |
| T17 | 722-733 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T18 | 805-815 | SequenceVariant | denotes | p.Asp25Asn |
| T19 | 823-828 | SequenceVariant | denotes | mzm1Δ |
| T20 | 829-834 | OrganismTaxon | denotes | yeast |
| T21 | 863-873 | SequenceVariant | denotes | mzm1(D25N) |
| T22 | 895-942 | DiseaseOrPhenotypicFeature | denotes | temperature-sensitive respiratory growth defect |
| T23 | 944-972 | DiseaseOrPhenotypicFeature | denotes | decreased oxygen consumption |
| T24 | 974-1034 | DiseaseOrPhenotypicFeature | denotes | impaired maturation/stabilization of the Rieske Fe-S protein |
| T25 | 1040-1068 | DiseaseOrPhenotypicFeature | denotes | reduced complex III activity |
| T26 | 1081-1092 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T27 | 1126-1130 | GeneOrGeneProduct | denotes | cIII |
| T28 | 1155-1190 | DiseaseOrPhenotypicFeature | denotes | severe mitochondrial encephalopathy |
biored-valid-gemini-nr-g
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-36 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T2 | 53-79 | DiseaseOrPhenotypicFeature | denotes | early onset encephalopathy |
| T3 | 81-96 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T4 | 122-147 | GeneOrGeneProduct | denotes | mitochondrial complex III |
| T5 | 224-228 | GeneOrGeneProduct | denotes | cIII |
| T6 | 237-268 | GeneOrGeneProduct | denotes | mitochondrial respiratory chain |
| T7 | 309-313 | GeneOrGeneProduct | denotes | cIII |
| T8 | 417-422 | OrganismTaxon | denotes | human |
| T9 | 423-434 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T10 | 452-457 | OrganismTaxon | denotes | yeast |
| T11 | 513-517 | GeneOrGeneProduct | denotes | cIII |
| T12 | 555-576 | DiseaseOrPhenotypicFeature | denotes | severe encephalopathy |
| T13 | 578-593 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T14 | 617-632 | DiseaseOrPhenotypicFeature | denotes | cIII deficiency |
| T15 | 636-651 | OrganismTaxon | denotes | skeletal muscle |
| T16 | 710-717 | SequenceVariant | denotes | c.73G>A |
| T17 | 722-733 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T18 | 805-815 | SequenceVariant | denotes | p.Asp25Asn |
| T19 | 823-828 | GeneOrGeneProduct | denotes | mzm1Δ |
| T20 | 829-834 | OrganismTaxon | denotes | yeast |
| T21 | 863-873 | GeneOrGeneProduct | denotes | mzm1(D25N) |
| T22 | 917-942 | DiseaseOrPhenotypicFeature | denotes | respiratory growth defect |
| T23 | 1015-1034 | GeneOrGeneProduct | denotes | Rieske Fe-S protein |
| T24 | 1048-1059 | GeneOrGeneProduct | denotes | complex III |
| T25 | 1081-1092 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T26 | 1162-1190 | DiseaseOrPhenotypicFeature | denotes | mitochondrial encephalopathy |
biored-valid-gpt-r-m
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-36 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T2 | 65-79 | DiseaseOrPhenotypicFeature | denotes | encephalopathy |
| T3 | 81-96 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T4 | 136-147 | GeneOrGeneProduct | denotes | complex III |
| T5 | 211-222 | GeneOrGeneProduct | denotes | complex III |
| T6 | 224-228 | GeneOrGeneProduct | denotes | cIII |
| T7 | 309-313 | GeneOrGeneProduct | denotes | cIII |
| T8 | 381-385 | GeneOrGeneProduct | denotes | cIII |
| T9 | 417-422 | OrganismTaxon | denotes | human |
| T10 | 423-434 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T11 | 452-457 | OrganismTaxon | denotes | yeast |
| T12 | 513-517 | GeneOrGeneProduct | denotes | cIII |
| T13 | 529-536 | OrganismTaxon | denotes | patient |
| T14 | 562-576 | DiseaseOrPhenotypicFeature | denotes | encephalopathy |
| T15 | 578-593 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T16 | 617-621 | GeneOrGeneProduct | denotes | cIII |
| T17 | 710-717 | SequenceVariant | denotes | c.73G>A |
| T18 | 722-733 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T19 | 805-815 | SequenceVariant | denotes | p.Asp25Asn |
| T20 | 823-828 | SequenceVariant | denotes | mzm1Δ |
| T21 | 829-834 | OrganismTaxon | denotes | yeast |
| T22 | 868-872 | SequenceVariant | denotes | D25N |
| T23 | 917-942 | DiseaseOrPhenotypicFeature | denotes | respiratory growth defect |
| T24 | 944-972 | DiseaseOrPhenotypicFeature | denotes | decreased oxygen consumption |
| T25 | 1015-1034 | GeneOrGeneProduct | denotes | Rieske Fe-S protein |
| T26 | 1048-1059 | GeneOrGeneProduct | denotes | complex III |
| T27 | 1081-1092 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T28 | 1126-1130 | GeneOrGeneProduct | denotes | cIII |
| T29 | 1162-1190 | DiseaseOrPhenotypicFeature | denotes | mitochondrial encephalopathy |
biored-valid-gemini-r-m
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-36 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T2 | 65-79 | DiseaseOrPhenotypicFeature | denotes | encephalopathy |
| T3 | 81-96 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T4 | 122-147 | GeneOrGeneProduct | denotes | mitochondrial complex III |
| T5 | 211-222 | GeneOrGeneProduct | denotes | complex III |
| T6 | 224-228 | GeneOrGeneProduct | denotes | cIII |
| T7 | 237-268 | GeneOrGeneProduct | denotes | mitochondrial respiratory chain |
| T8 | 309-313 | GeneOrGeneProduct | denotes | cIII |
| T9 | 417-422 | OrganismTaxon | denotes | human |
| T10 | 423-434 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T11 | 452-457 | OrganismTaxon | denotes | yeast |
| T12 | 513-517 | GeneOrGeneProduct | denotes | cIII |
| T13 | 529-536 | OrganismTaxon | denotes | patient |
| T14 | 562-576 | DiseaseOrPhenotypicFeature | denotes | encephalopathy |
| T15 | 578-593 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T16 | 617-632 | DiseaseOrPhenotypicFeature | denotes | cIII deficiency |
| T17 | 710-717 | SequenceVariant | denotes | c.73G>A |
| T18 | 722-733 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T19 | 805-815 | SequenceVariant | denotes | p.Asp25Asn |
| T20 | 823-828 | SequenceVariant | denotes | mzm1Δ |
| T21 | 829-834 | OrganismTaxon | denotes | yeast |
| T22 | 868-872 | SequenceVariant | denotes | D25N |
| T23 | 917-942 | DiseaseOrPhenotypicFeature | denotes | respiratory growth defect |
| T24 | 1015-1034 | GeneOrGeneProduct | denotes | Rieske Fe-S protein |
| T25 | 1048-1059 | GeneOrGeneProduct | denotes | complex III |
| T26 | 1081-1092 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T27 | 1126-1140 | DiseaseOrPhenotypicFeature | denotes | cIII-defective |
| T28 | 1162-1190 | DiseaseOrPhenotypicFeature | denotes | mitochondrial encephalopathy |
biored-valid-deepseek-r-m
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 25-36 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T2 | 53-79 | DiseaseOrPhenotypicFeature | denotes | early onset encephalopathy |
| T3 | 81-96 | DiseaseOrPhenotypicFeature | denotes | lactic acidosis |
| T4 | 417-422 | OrganismTaxon | denotes | human |
| T5 | 423-434 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T6 | 452-457 | OrganismTaxon | denotes | yeast |
| T7 | 542-576 | DiseaseOrPhenotypicFeature | denotes | early onset, severe encephalopathy |
| T8 | 617-632 | DiseaseOrPhenotypicFeature | denotes | cIII deficiency |
| T9 | 710-717 | SequenceVariant | denotes | c.73G>A |
| T10 | 722-733 | GeneOrGeneProduct | denotes | LYRM7/MZM1L |
| T11 | 805-815 | SequenceVariant | denotes | p.Asp25Asn |
| T12 | 863-873 | SequenceVariant | denotes | mzm1(D25N) |
| T13 | 1015-1034 | GeneOrGeneProduct | denotes | Rieske Fe-S protein |
| T14 | 1126-1140 | DiseaseOrPhenotypicFeature | denotes | cIII-defective |
| T15 | 1162-1190 | DiseaseOrPhenotypicFeature | denotes | mitochondrial encephalopathy |