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PMID_GLOBAL

Id Subject Object Predicate Lexical cue mondo_id
T1 4-6 DiseaseOrPhenotypicFeature denotes FH 0016525
T2 93-97 DiseaseOrPhenotypicFeature denotes MCUL 0007888
T3 99-104 DiseaseOrPhenotypicFeature denotes HLRCC 0007888
T4 106-120 DiseaseOrPhenotypicFeature denotes tumor syndrome 0021058
T5 136-155 DiseaseOrPhenotypicFeature denotes fumarase deficiency 0011730
T6 217-219 DiseaseOrPhenotypicFeature denotes FH 0016525
T7 403-405 DiseaseOrPhenotypicFeature denotes FH 0016525
T8 475-484 DiseaseOrPhenotypicFeature denotes Leiomyoma 0001572
T9 542-544 DiseaseOrPhenotypicFeature denotes FH 0016525
T10 562-603 DiseaseOrPhenotypicFeature denotes multiple cutaneous and uterine leiomyomas 0007888
T11 606-610 DiseaseOrPhenotypicFeature denotes MCUL 0007888
T12 643-660 DiseaseOrPhenotypicFeature denotes renal cell cancer 0003007|0005549
T14 733-780 DiseaseOrPhenotypicFeature denotes hereditary leiomyomatosis and renal cell cancer 0007888
T15 782-787 DiseaseOrPhenotypicFeature denotes HLRCC 0007888
T16 825-827 DiseaseOrPhenotypicFeature denotes FH 0016525
T17 833-838 DiseaseOrPhenotypicFeature denotes tumor 0005070
T18 1092-1094 DiseaseOrPhenotypicFeature denotes FH 0016525
T19 1444-1446 DiseaseOrPhenotypicFeature denotes FH 0016525
T20 1655-1657 DiseaseOrPhenotypicFeature denotes FH 0016525
T21 1723-1725 DiseaseOrPhenotypicFeature denotes FH 0016525
T22 1764-1768 DiseaseOrPhenotypicFeature denotes MCUL 0007888
T23 2052-2054 DiseaseOrPhenotypicFeature denotes FH 0016525
T24 2090-2092 DiseaseOrPhenotypicFeature denotes FH 0016525
T25 2176-2178 DiseaseOrPhenotypicFeature denotes FH 0016525
T26 2447-2449 DiseaseOrPhenotypicFeature denotes FH 0016525
T27 2475-2484 DiseaseOrPhenotypicFeature denotes syndromes 0002254

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T3 169-349 Sentence denotes Fumarate hydratase (HGNC approved gene symbol - FH), also known as fumarase, is an enzyme of the tricarboxylic acid (TCA) cycle, involved in fundamental cellular energy production.
T1 0-156 Sentence denotes The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.
T2 157-168 Sentence denotes BACKGROUND:
T4 350-452 Sentence denotes First described by Zinn et al in 1986, deficiency of FH results in early onset, severe encephalopathy.
T5 453-625 Sentence denotes In 2002, the Multiple Leiomyoma Consortium identified heterozygous germline mutations of FH in patients with multiple cutaneous and uterine leiomyomas, (MCUL: OMIM 150800).
T6 626-802 Sentence denotes In some families renal cell cancer also forms a component of the complex and as such has been described as hereditary leiomyomatosis and renal cell cancer (HLRCC: OMIM 605839).
T7 803-1074 Sentence denotes The identification of FH as a tumor suppressor was an unexpected finding and following the identification of subunits of succinate dehydrogenase in 2000 and 2001, was only the second description of the involvement of an enzyme of intermediary metabolism in tumorigenesis.
T8 1075-1087 Sentence denotes DESCRIPTION:
T9 1088-1299 Sentence denotes The FH mutation database is a part of the TCA cycle gene mutation database (formerly the succinate dehydrogenase gene mutation database) and is based on the Leiden Open (source) Variation Database (LOVD) system.
T10 1300-1439 Sentence denotes The variants included in the database were derived from the published literature and annotated to conform to current mutation nomenclature.
T11 1440-1605 Sentence denotes The FH database applies HGVS nomenclature guidelines, and will assist researchers in applying these guidelines when directly submitting new sequence variants online.
T12 1606-1845 Sentence denotes Since the first molecular characterization of an FH mutation by Bourgeron et al in 1994, a series of reports of both FH deficiency patients and patients with MCUL/HLRRC have described 107 variants, of which 93 are thought to be pathogenic.
T13 1846-1991 Sentence denotes The most common type of mutation is missense (57%), followed by frameshifts & nonsense (27%), and diverse deletions, insertions and duplications.
T14 1992-2073 Sentence denotes Here we introduce an online database detailing all reported FH sequence variants.
T15 2074-2085 Sentence denotes CONCLUSION:
T16 2086-2188 Sentence denotes The FH mutation database strives to systematically unify all current genetic knowledge of FH variants.
T17 2189-2485 Sentence denotes We believe that this knowledge will assist clinical geneticists and treating physicians when advising patients and their families, will provide a rapid and convenient resource for research scientists, and may eventually assist in gaining novel insights into FH and its related clinical syndromes.

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
4833 4-6 GeneOrGeneProduct denotes FH NCBIGene:2271
4834 48-66 GeneOrGeneProduct denotes fumarate hydratase NCBIGene:2271
4835 93-97 DiseaseOrPhenotypicFeature denotes MCUL MESH:C535516
4836 99-104 DiseaseOrPhenotypicFeature denotes HLRCC MESH:C535516
4837 106-120 DiseaseOrPhenotypicFeature denotes tumor syndrome MESH:D009369
4838 136-155 DiseaseOrPhenotypicFeature denotes fumarase deficiency MESH:C538191
4839 169-187 GeneOrGeneProduct denotes Fumarate hydratase NCBIGene:2271
4840 217-219 GeneOrGeneProduct denotes FH NCBIGene:2271
4841 236-244 GeneOrGeneProduct denotes fumarase NCBIGene:2271
4842 266-284 ChemicalEntity denotes tricarboxylic acid MESH:D014233
4843 286-289 ChemicalEntity denotes TCA MESH:D014233
4844 389-405 DiseaseOrPhenotypicFeature denotes deficiency of FH MESH:C538191
4845 437-451 DiseaseOrPhenotypicFeature denotes encephalopathy MESH:D001927
4846 475-484 DiseaseOrPhenotypicFeature denotes Leiomyoma MESH:D007889
4847 542-544 GeneOrGeneProduct denotes FH NCBIGene:2271
4848 548-556 OrganismTaxon denotes patients NCBITaxon:9606
4849 562-603 DiseaseOrPhenotypicFeature denotes multiple cutaneous and uterine leiomyomas MESH:C535516
4850 606-610 DiseaseOrPhenotypicFeature denotes MCUL MESH:C535516
4851 612-623 DiseaseOrPhenotypicFeature denotes OMIM 150800 MESH:C535516
4852 643-660 DiseaseOrPhenotypicFeature denotes renal cell cancer MESH:D002292
4853 733-780 DiseaseOrPhenotypicFeature denotes hereditary leiomyomatosis and renal cell cancer MESH:C535516
4854 782-787 DiseaseOrPhenotypicFeature denotes HLRCC MESH:C535516
4855 789-800 DiseaseOrPhenotypicFeature denotes OMIM 605839 MESH:C535516
4856 825-827 GeneOrGeneProduct denotes FH NCBIGene:2271
4857 833-838 DiseaseOrPhenotypicFeature denotes tumor MESH:D009369
4858 1060-1073 DiseaseOrPhenotypicFeature denotes tumorigenesis MESH:D009369
4859 1092-1094 GeneOrGeneProduct denotes FH NCBIGene:2271
4860 1130-1133 ChemicalEntity denotes TCA MESH:D014233
4861 1444-1446 GeneOrGeneProduct denotes FH NCBIGene:2271
4862 1655-1657 GeneOrGeneProduct denotes FH NCBIGene:2271
4863 1723-1736 DiseaseOrPhenotypicFeature denotes FH deficiency MESH:C538191
4864 1737-1745 OrganismTaxon denotes patients NCBITaxon:9606
4865 1750-1758 OrganismTaxon denotes patients NCBITaxon:9606
4866 1764-1768 DiseaseOrPhenotypicFeature denotes MCUL MESH:C535516
4867 1769-1774 DiseaseOrPhenotypicFeature denotes HLRRC MESH:C535516
4868 2052-2054 GeneOrGeneProduct denotes FH NCBIGene:2271
4869 2090-2092 GeneOrGeneProduct denotes FH NCBIGene:2271
4870 2176-2178 GeneOrGeneProduct denotes FH NCBIGene:2271
4871 2291-2299 OrganismTaxon denotes patients NCBITaxon:9606
4872 2447-2449 GeneOrGeneProduct denotes FH NCBIGene:2271

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 125-135 DiseaseOrPhenotypicFeature denotes congenital 0021140
T2 475-484 DiseaseOrPhenotypicFeature denotes Leiomyoma 0001572
T3 593-603 DiseaseOrPhenotypicFeature denotes leiomyomas 0001572
T4 654-660 DiseaseOrPhenotypicFeature denotes cancer 0004992
T5 733-780 DiseaseOrPhenotypicFeature denotes hereditary leiomyomatosis and renal cell cancer 0007888
T6 744-758 DiseaseOrPhenotypicFeature denotes leiomyomatosis 0003295
T7 774-780 DiseaseOrPhenotypicFeature denotes cancer 0004992

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 48-66 GeneOrGeneProduct denotes fumarate hydratase
T2 99-104 GeneOrGeneProduct denotes HLRCC
T3 112-120 GeneOrGeneProduct denotes syndrome
T4 136-144 GeneOrGeneProduct denotes fumarase
T5 169-187 GeneOrGeneProduct denotes Fumarate hydratase
T6 208-214 GeneOrGeneProduct denotes symbol
T7 236-244 GeneOrGeneProduct denotes fumarase
T8 252-258 GeneOrGeneProduct denotes enzyme
T9 280-284 GeneOrGeneProduct denotes acid
T10 291-296 GeneOrGeneProduct denotes cycle
T11 417-422 GeneOrGeneProduct denotes early
T12 466-474 GeneOrGeneProduct denotes Multiple
T13 562-570 GeneOrGeneProduct denotes multiple
T14 649-653 GeneOrGeneProduct denotes cell
T15 769-773 GeneOrGeneProduct denotes cell
T16 782-787 GeneOrGeneProduct denotes HLRCC
T17 833-849 GeneOrGeneProduct denotes tumor suppressor
T18 924-947 GeneOrGeneProduct denotes succinate dehydrogenase
T19 1023-1029 GeneOrGeneProduct denotes enzyme
T20 1116-1122 GeneOrGeneProduct denotes a part
T21 1134-1139 GeneOrGeneProduct denotes cycle
T22 1177-1200 GeneOrGeneProduct denotes succinate dehydrogenase
T23 1252-1256 GeneOrGeneProduct denotes Open
T24 2427-2432 GeneOrGeneProduct denotes novel
T25 2475-2484 GeneOrGeneProduct denotes syndromes

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 7-15 GeneOrGeneProduct denotes mutation
T2 48-66 GeneOrGeneProduct denotes fumarate hydratase
T3 67-76 GeneOrGeneProduct denotes mutations
T4 93-97 GeneOrGeneProduct denotes MCUL
T5 99-104 GeneOrGeneProduct denotes HLRCC
T6 106-111 GeneOrGeneProduct denotes tumor
T7 112-120 GeneOrGeneProduct denotes syndrome
T8 136-144 GeneOrGeneProduct denotes fumarase
T9 169-187 GeneOrGeneProduct denotes Fumarate hydratase
T10 208-214 GeneOrGeneProduct denotes symbol
T11 236-244 GeneOrGeneProduct denotes fumarase
T12 252-258 GeneOrGeneProduct denotes enzyme
T13 280-284 GeneOrGeneProduct denotes acid
T14 291-296 GeneOrGeneProduct denotes cycle
T15 338-348 GeneOrGeneProduct denotes production
T16 417-422 GeneOrGeneProduct denotes early
T17 466-474 GeneOrGeneProduct denotes Multiple
T18 529-538 GeneOrGeneProduct denotes mutations
T19 562-570 GeneOrGeneProduct denotes multiple
T20 606-610 GeneOrGeneProduct denotes MCUL
T21 649-653 GeneOrGeneProduct denotes cell
T22 769-773 GeneOrGeneProduct denotes cell
T23 782-787 GeneOrGeneProduct denotes HLRCC
T24 833-849 GeneOrGeneProduct denotes tumor suppressor
T25 868-879 GeneOrGeneProduct denotes finding and
T26 924-947 GeneOrGeneProduct denotes succinate dehydrogenase
T27 1023-1029 GeneOrGeneProduct denotes enzyme
T28 1095-1103 GeneOrGeneProduct denotes mutation
T29 1116-1122 GeneOrGeneProduct denotes a part
T30 1134-1139 GeneOrGeneProduct denotes cycle
T31 1145-1153 GeneOrGeneProduct denotes mutation
T32 1177-1200 GeneOrGeneProduct denotes succinate dehydrogenase
T33 1206-1214 GeneOrGeneProduct denotes mutation
T34 1232-1237 GeneOrGeneProduct denotes based
T35 1252-1256 GeneOrGeneProduct denotes Open
T36 1417-1425 GeneOrGeneProduct denotes mutation
T37 1652-1657 GeneOrGeneProduct denotes an FH
T38 1658-1666 GeneOrGeneProduct denotes mutation
T39 1764-1768 GeneOrGeneProduct denotes MCUL
T40 1867-1878 GeneOrGeneProduct denotes of mutation
T41 1882-1890 GeneOrGeneProduct denotes missense
T42 1978-1990 GeneOrGeneProduct denotes duplications
T43 2039-2042 GeneOrGeneProduct denotes all
T44 2093-2101 GeneOrGeneProduct denotes mutation
T45 2143-2146 GeneOrGeneProduct denotes all
T46 2427-2432 GeneOrGeneProduct denotes novel
T47 2475-2484 GeneOrGeneProduct denotes syndromes

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 106-111 DiseaseOrPhenotypicFeature denotes tumor D009369
T2 112-120 DiseaseOrPhenotypicFeature denotes syndrome D013577
T3 136-155 DiseaseOrPhenotypicFeature denotes fumarase deficiency C538191
T4 437-451 DiseaseOrPhenotypicFeature denotes encephalopathy D001927
T5 475-484 DiseaseOrPhenotypicFeature denotes Leiomyoma D007889
T6 593-603 DiseaseOrPhenotypicFeature denotes leiomyomas D007889
T7 643-660 DiseaseOrPhenotypicFeature denotes renal cell cancer D002292
T8 744-758 DiseaseOrPhenotypicFeature denotes leiomyomatosis D018231
T9 763-780 DiseaseOrPhenotypicFeature denotes renal cell cancer D002292
T10 833-838 DiseaseOrPhenotypicFeature denotes tumor D009369
T11 1060-1073 DiseaseOrPhenotypicFeature denotes tumorigenesis D063646
T12 2475-2484 DiseaseOrPhenotypicFeature denotes syndromes D013577

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 48-66 GeneOrGeneProduct denotes fumarate hydratase
T2 136-144 GeneOrGeneProduct denotes fumarase
T3 169-187 GeneOrGeneProduct denotes Fumarate hydratase
T4 208-214 GeneOrGeneProduct denotes symbol
T5 236-244 GeneOrGeneProduct denotes fumarase
T6 839-849 GeneOrGeneProduct denotes suppressor
T7 924-947 GeneOrGeneProduct denotes succinate dehydrogenase
T8 1177-1200 GeneOrGeneProduct denotes succinate dehydrogenase
T9 1252-1256 GeneOrGeneProduct denotes Open

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 4-6 DiseaseOrPhenotypicFeature denotes FH 0016525
T2 93-97 DiseaseOrPhenotypicFeature denotes MCUL 0007888
T3 99-104 DiseaseOrPhenotypicFeature denotes HLRCC 0007888
T4 106-120 DiseaseOrPhenotypicFeature denotes tumor syndrome 0021058
T5 136-155 DiseaseOrPhenotypicFeature denotes fumarase deficiency 0011730
T6 217-219 DiseaseOrPhenotypicFeature denotes FH 0016525
T7 403-405 DiseaseOrPhenotypicFeature denotes FH 0016525
T8 475-484 DiseaseOrPhenotypicFeature denotes Leiomyoma 0001572
T9 542-544 DiseaseOrPhenotypicFeature denotes FH 0016525
T10 562-603 DiseaseOrPhenotypicFeature denotes multiple cutaneous and uterine leiomyomas 0007888
T11 606-610 DiseaseOrPhenotypicFeature denotes MCUL 0007888
T12 643-660 DiseaseOrPhenotypicFeature denotes renal cell cancer 0005549|0003007
T14 733-780 DiseaseOrPhenotypicFeature denotes hereditary leiomyomatosis and renal cell cancer 0007888
T15 782-787 DiseaseOrPhenotypicFeature denotes HLRCC 0007888
T16 825-827 DiseaseOrPhenotypicFeature denotes FH 0016525
T17 833-838 DiseaseOrPhenotypicFeature denotes tumor 0005070
T18 1092-1094 DiseaseOrPhenotypicFeature denotes FH 0016525
T19 1444-1446 DiseaseOrPhenotypicFeature denotes FH 0016525
T20 1655-1657 DiseaseOrPhenotypicFeature denotes FH 0016525
T21 1723-1725 DiseaseOrPhenotypicFeature denotes FH 0016525
T22 1764-1768 DiseaseOrPhenotypicFeature denotes MCUL 0007888
T23 2052-2054 DiseaseOrPhenotypicFeature denotes FH 0016525
T24 2090-2092 DiseaseOrPhenotypicFeature denotes FH 0016525
T25 2176-2178 DiseaseOrPhenotypicFeature denotes FH 0016525
T26 2447-2449 DiseaseOrPhenotypicFeature denotes FH 0016525
T27 2475-2484 DiseaseOrPhenotypicFeature denotes syndromes 0002254

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 93-97 DiseaseOrPhenotypicFeature denotes MCUL DISEASE
T2 99-104 DiseaseOrPhenotypicFeature denotes HLRCC DISEASE
T3 106-111 DiseaseOrPhenotypicFeature denotes tumor D009369
T4 112-120 DiseaseOrPhenotypicFeature denotes syndrome D013577
T5 136-155 DiseaseOrPhenotypicFeature denotes fumarase deficiency C538191
T6 389-405 DiseaseOrPhenotypicFeature denotes deficiency of FH DISEASE
T7 437-451 DiseaseOrPhenotypicFeature denotes encephalopathy D001927
T8 475-484 DiseaseOrPhenotypicFeature denotes Leiomyoma D007889
T9 562-603 DiseaseOrPhenotypicFeature denotes multiple cutaneous and uterine leiomyomas DISEASE
T10 606-610 DiseaseOrPhenotypicFeature denotes MCUL DISEASE
T11 612-623 DiseaseOrPhenotypicFeature denotes OMIM 150800 DISEASE
T12 643-660 DiseaseOrPhenotypicFeature denotes renal cell cancer D002292
T13 733-780 DiseaseOrPhenotypicFeature denotes hereditary leiomyomatosis and renal cell cancer C535516
T14 782-787 DiseaseOrPhenotypicFeature denotes HLRCC DISEASE
T15 789-800 DiseaseOrPhenotypicFeature denotes OMIM 605839 DISEASE
T16 833-838 DiseaseOrPhenotypicFeature denotes tumor D009369
T17 1060-1073 DiseaseOrPhenotypicFeature denotes tumorigenesis D063646
T18 1723-1736 DiseaseOrPhenotypicFeature denotes FH deficiency DISEASE
T19 1764-1768 DiseaseOrPhenotypicFeature denotes MCUL DISEASE
T20 1769-1774 DiseaseOrPhenotypicFeature denotes HLRRC DISEASE
T21 2475-2484 DiseaseOrPhenotypicFeature denotes syndromes D013577

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 93-97 DiseaseOrPhenotypicFeature denotes MCUL DISEASE
T2 99-104 DiseaseOrPhenotypicFeature denotes HLRCC DISEASE
T3 106-111 DiseaseOrPhenotypicFeature denotes tumor D009369
T4 136-155 DiseaseOrPhenotypicFeature denotes fumarase deficiency C538191
T5 389-405 DiseaseOrPhenotypicFeature denotes deficiency of FH DISEASE
T6 437-451 DiseaseOrPhenotypicFeature denotes encephalopathy D001927
T7 475-484 DiseaseOrPhenotypicFeature denotes Leiomyoma D007889
T8 562-603 DiseaseOrPhenotypicFeature denotes multiple cutaneous and uterine leiomyomas DISEASE
T9 606-610 DiseaseOrPhenotypicFeature denotes MCUL DISEASE
T10 612-623 DiseaseOrPhenotypicFeature denotes OMIM 150800 DISEASE
T11 643-660 DiseaseOrPhenotypicFeature denotes renal cell cancer D002292
T12 733-780 DiseaseOrPhenotypicFeature denotes hereditary leiomyomatosis and renal cell cancer C535516
T13 782-787 DiseaseOrPhenotypicFeature denotes HLRCC DISEASE
T14 789-800 DiseaseOrPhenotypicFeature denotes OMIM 605839 DISEASE
T15 833-838 DiseaseOrPhenotypicFeature denotes tumor D009369
T16 1060-1073 DiseaseOrPhenotypicFeature denotes tumorigenesis D063646
T17 1723-1736 DiseaseOrPhenotypicFeature denotes FH deficiency DISEASE
T18 1764-1768 DiseaseOrPhenotypicFeature denotes MCUL DISEASE
T19 1769-1774 DiseaseOrPhenotypicFeature denotes HLRRC DISEASE

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 548-556 OrganismTaxon denotes patients
T2 1737-1745 OrganismTaxon denotes patients
T3 1750-1758 OrganismTaxon denotes patients
T4 2291-2299 OrganismTaxon denotes patients

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 48-66 ChemicalEntity denotes fumarate hydratase D005649
T2 136-155 ChemicalEntity denotes fumarase deficiency C538191
T3 169-187 ChemicalEntity denotes Fumarate hydratase D005649
T4 236-244 ChemicalEntity denotes fumarase D005649
T5 266-284 ChemicalEntity denotes tricarboxylic acid D014233|http://purl.obolibrary.org/obo/CHEBI_27093
T7 286-289 ChemicalEntity denotes TCA http://purl.obolibrary.org/obo/CHEBI_30956|D014233
T9 369-373 ChemicalEntity denotes Zinn http://purl.obolibrary.org/obo/CHEBI_27007
T10 924-933 ChemicalEntity denotes succinate D019802|http://purl.obolibrary.org/obo/CHEBI_30031|http://purl.obolibrary.org/obo/CHEBI_26806
T13 934-947 ChemicalEntity denotes dehydrogenase D010088
T14 1130-1133 ChemicalEntity denotes TCA http://purl.obolibrary.org/obo/CHEBI_30956|D014233
T16 1177-1186 ChemicalEntity denotes succinate D019802|http://purl.obolibrary.org/obo/CHEBI_30031|http://purl.obolibrary.org/obo/CHEBI_26806
T19 1187-1200 ChemicalEntity denotes dehydrogenase D010088

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T19 1187-1200 ChemicalEntity denotes dehydrogenase D010088
T16 1177-1186 ChemicalEntity denotes succinate http://purl.obolibrary.org/obo/CHEBI_26806|http://purl.obolibrary.org/obo/CHEBI_30031|D019802
T14 1130-1133 ChemicalEntity denotes TCA D014233|http://purl.obolibrary.org/obo/CHEBI_30956
T13 934-947 ChemicalEntity denotes dehydrogenase D010088
T10 924-933 ChemicalEntity denotes succinate http://purl.obolibrary.org/obo/CHEBI_26806|http://purl.obolibrary.org/obo/CHEBI_30031|D019802
T9 369-373 ChemicalEntity denotes Zinn http://purl.obolibrary.org/obo/CHEBI_27007
T7 286-289 ChemicalEntity denotes TCA D014233|http://purl.obolibrary.org/obo/CHEBI_30956
T5 266-284 ChemicalEntity denotes tricarboxylic acid http://purl.obolibrary.org/obo/CHEBI_27093|D014233
T4 236-244 ChemicalEntity denotes fumarase D005649
T3 169-187 ChemicalEntity denotes Fumarate hydratase D005649
T2 136-155 ChemicalEntity denotes fumarase deficiency C538191
T1 48-66 ChemicalEntity denotes fumarate hydratase D005649
T94871 1252-1256 GeneOrGeneProduct denotes Open
T8 1177-1200 GeneOrGeneProduct denotes succinate dehydrogenase
T73346 924-947 GeneOrGeneProduct denotes succinate dehydrogenase
T6 839-849 GeneOrGeneProduct denotes suppressor
T88768 236-244 GeneOrGeneProduct denotes fumarase
T4528 208-214 GeneOrGeneProduct denotes symbol
T90547 169-187 GeneOrGeneProduct denotes Fumarate hydratase
T71330 136-144 GeneOrGeneProduct denotes fumarase
T53952 48-66 GeneOrGeneProduct denotes fumarate hydratase
T30013 1769-1774 DiseaseOrPhenotypicFeature denotes HLRRC DISEASE
T18 1764-1768 DiseaseOrPhenotypicFeature denotes MCUL DISEASE
T17 1723-1736 DiseaseOrPhenotypicFeature denotes FH deficiency DISEASE
T25239 1060-1073 DiseaseOrPhenotypicFeature denotes tumorigenesis D063646
T15 833-838 DiseaseOrPhenotypicFeature denotes tumor D009369
T30480 789-800 DiseaseOrPhenotypicFeature denotes OMIM 605839 DISEASE
T18175 782-787 DiseaseOrPhenotypicFeature denotes HLRCC DISEASE
T12 733-780 DiseaseOrPhenotypicFeature denotes hereditary leiomyomatosis and renal cell cancer C535516
T11 643-660 DiseaseOrPhenotypicFeature denotes renal cell cancer D002292
T30897 612-623 DiseaseOrPhenotypicFeature denotes OMIM 150800 DISEASE
T77092 606-610 DiseaseOrPhenotypicFeature denotes MCUL DISEASE
T43739 562-603 DiseaseOrPhenotypicFeature denotes multiple cutaneous and uterine leiomyomas DISEASE
T50201 475-484 DiseaseOrPhenotypicFeature denotes Leiomyoma D007889
T894 437-451 DiseaseOrPhenotypicFeature denotes encephalopathy D001927
T51730 389-405 DiseaseOrPhenotypicFeature denotes deficiency of FH DISEASE
T17349 136-155 DiseaseOrPhenotypicFeature denotes fumarase deficiency C538191
T6572 106-111 DiseaseOrPhenotypicFeature denotes tumor D009369
T48138 99-104 DiseaseOrPhenotypicFeature denotes HLRCC DISEASE
T63073 93-97 DiseaseOrPhenotypicFeature denotes MCUL DISEASE
T20703 2291-2299 OrganismTaxon denotes patients
T27336 1750-1758 OrganismTaxon denotes patients
T73627 1737-1745 OrganismTaxon denotes patients
T73931 548-556 OrganismTaxon denotes patients

DisGeNET

Id Subject Object Predicate Lexical cue
T0 48-66 gene:2271 denotes fumarate hydratase
T1 136-155 disease:C0342770 denotes fumarase deficiency
T2 782-787 gene:2271 denotes HLRCC
T3 733-780 disease:C1708350 denotes hereditary leiomyomatosis and renal cell cancer
T4 782-787 gene:2271 denotes HLRCC
T5 643-660 disease:C0007134 denotes renal cell cancer
R1 T0 T1 associated_with fumarate hydratase,fumarase deficiency
R2 T2 T3 associated_with HLRCC,hereditary leiomyomatosis and renal cell cancer
R3 T4 T5 associated_with HLRCC,renal cell cancer

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
18366737-0#48#66#gene2271 48-66 gene2271 denotes fumarate hydratase
18366737-0#99#104#diseaseC1708350 99-104 diseaseC1708350 denotes HLRCC
18366737-0#136#155#diseaseC0342770 136-155 diseaseC0342770 denotes fumarase deficiency
48#66#gene227199#104#diseaseC1708350 18366737-0#48#66#gene2271 18366737-0#99#104#diseaseC1708350 associated_with fumarate hydratase,HLRCC
48#66#gene2271136#155#diseaseC0342770 18366737-0#48#66#gene2271 18366737-0#136#155#diseaseC0342770 associated_with fumarate hydratase,fumarase deficiency