> top > docs > PubMed:12442272 > annotations

PubMed:12442272 JSONTXT

Annnotations TAB JSON ListView MergeView

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
461 0-4 SequenceVariant denotes D90A DBSNP:rs80265967
462 5-9 GeneOrGeneProduct denotes SOD1 NCBIGene:6647
463 19-48 DiseaseOrPhenotypicFeature denotes amyotrophic lateral sclerosis MESH:D000690
464 207-239 GeneOrGeneProduct denotes copper/zinc superoxide dismutase NCBIGene:6647
465 241-245 GeneOrGeneProduct denotes SOD1 NCBIGene:6647
466 266-274 OrganismTaxon denotes patients NCBITaxon:9606
467 280-309 DiseaseOrPhenotypicFeature denotes amyotrophic lateral sclerosis MESH:D000690
468 311-314 DiseaseOrPhenotypicFeature denotes ALS MESH:D000690
469 325-350 DiseaseOrPhenotypicFeature denotes neurodegenerative disease MESH:D019636
470 362-366 SequenceVariant denotes D90A DBSNP:rs80265967
471 367-371 GeneOrGeneProduct denotes SOD1 NCBIGene:6647
472 585-589 SequenceVariant denotes D90A DBSNP:rs80265967
473 590-594 GeneOrGeneProduct denotes SOD1 NCBIGene:6647
474 659-662 DiseaseOrPhenotypicFeature denotes ALS MESH:D000690
475 777-780 DiseaseOrPhenotypicFeature denotes ALS MESH:D000690
476 1041-1045 SequenceVariant denotes D90A DBSNP:rs80265967
477 1346-1350 GeneOrGeneProduct denotes SOD1 NCBIGene:6647
478 1459-1463 SequenceVariant denotes D90A DBSNP:rs80265967
479 1464-1468 GeneOrGeneProduct denotes SOD1 NCBIGene:6647
480 1511-1514 DiseaseOrPhenotypicFeature denotes ALS MESH:D000690

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-156 Sentence denotes D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype.
T2 157-351 Sentence denotes More than 100 different heterozygous mutations in copper/zinc superoxide dismutase (SOD1) have been found in patients with amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease.
T3 352-449 Sentence denotes Uniquely, D90A-SOD1 has been identified in recessive, dominant and apparently sporadic pedigrees.
T4 450-567 Sentence denotes The phenotype of homozygotes is stereotyped with an extended survival, whereas that of affected heterozygotes varies.
T5 568-694 Sentence denotes The frequency of D90A-SOD1 is 50 times higher in Scandinavia (2.5%) than elsewhere, though ALS prevalence is not raised there.
T6 695-857 Sentence denotes Our earlier study indicated separate founders for recessive and dominant/sporadic ALS and we proposed a disease-modifying factor linked to the recessive mutation.
T7 858-993 Sentence denotes Here we have doubled our sample set and employed novel markers to characterise the mutation's origin and localise any modifying factor.
T8 994-1187 Sentence denotes Linkage disequilibrium analysis indicates that D90A homozygotes and heterozygotes share a rare haplotype and are all descended from a single ancient founder (alpha 0.974) c.895 generations ago.
T9 1188-1259 Sentence denotes Homozygotes arose subsequently only c.63 generations ago (alpha 0.878).
T10 1260-1385 Sentence denotes Recombination has reduced the region shared by recessive kindreds to 97-265 kb around SOD1, excluding all neighbouring genes.
T11 1386-1577 Sentence denotes We propose that a cis-acting regulatory polymorphism has arisen close to D90A-SOD1 in the recessive founder, which decreases ALS susceptibility in heterozygotes and slows disease progression.

LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 101-104 OrganismTaxon denotes Cis NCBItxid:245896

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 19-48 DiseaseOrPhenotypicFeature denotes amyotrophic lateral sclerosis 0004976
T2 31-48 DiseaseOrPhenotypicFeature denotes lateral sclerosis 0018155
T3 280-309 DiseaseOrPhenotypicFeature denotes amyotrophic lateral sclerosis 0004976
T4 292-309 DiseaseOrPhenotypicFeature denotes lateral sclerosis 0018155
T5 325-350 DiseaseOrPhenotypicFeature denotes neurodegenerative disease 0005559
T6 1084-1088 DiseaseOrPhenotypicFeature denotes rare 0021136

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 0-4 SequenceVariant denotes D90A
T2 362-366 SequenceVariant denotes D90A
T3 585-589 SequenceVariant denotes D90A
T4 1041-1045 SequenceVariant denotes D90A
T5 1459-1463 SequenceVariant denotes D90A

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 5-9 GeneOrGeneProduct denotes SOD1
T2 10-18 GeneOrGeneProduct denotes mediated
T3 31-38 GeneOrGeneProduct denotes lateral
T4 71-74 GeneOrGeneProduct denotes all
T5 75-80 GeneOrGeneProduct denotes cases
T6 105-111 GeneOrGeneProduct denotes acting
T7 194-203 GeneOrGeneProduct denotes mutations
T8 207-239 GeneOrGeneProduct denotes copper/zinc superoxide dismutase
T9 241-245 GeneOrGeneProduct denotes SOD1
T10 292-299 GeneOrGeneProduct denotes lateral
T11 367-371 GeneOrGeneProduct denotes SOD1
T12 502-510 GeneOrGeneProduct denotes extended
T13 560-566 GeneOrGeneProduct denotes varies
T14 572-581 GeneOrGeneProduct denotes frequency
T15 590-594 GeneOrGeneProduct denotes SOD1
T16 601-606 GeneOrGeneProduct denotes times
T17 630-633 GeneOrGeneProduct denotes 2.5
T18 681-687 GeneOrGeneProduct denotes raised
T19 723-731 GeneOrGeneProduct denotes separate
T20 817-823 GeneOrGeneProduct denotes factor
T21 824-830 GeneOrGeneProduct denotes linked
T22 848-856 GeneOrGeneProduct denotes mutation
T23 871-878 GeneOrGeneProduct denotes doubled
T24 907-912 GeneOrGeneProduct denotes novel
T25 941-951 GeneOrGeneProduct denotes mutation's
T26 986-992 GeneOrGeneProduct denotes factor
T27 1084-1088 GeneOrGeneProduct denotes rare
T28 1107-1110 GeneOrGeneProduct denotes all
T29 1152-1157 GeneOrGeneProduct denotes alpha
T30 1246-1251 GeneOrGeneProduct denotes alpha
T31 1260-1273 GeneOrGeneProduct denotes Recombination
T32 1278-1285 GeneOrGeneProduct denotes reduced
T33 1346-1350 GeneOrGeneProduct denotes SOD1
T34 1362-1365 GeneOrGeneProduct denotes all
T35 1408-1414 GeneOrGeneProduct denotes acting
T36 1464-1468 GeneOrGeneProduct denotes SOD1
T37 1551-1556 GeneOrGeneProduct denotes slows

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 5-9 GeneOrGeneProduct denotes SOD1
T2 207-239 GeneOrGeneProduct denotes copper/zinc superoxide dismutase
T3 241-245 GeneOrGeneProduct denotes SOD1
T4 367-371 GeneOrGeneProduct denotes SOD1
T5 502-510 GeneOrGeneProduct denotes extended
T6 572-581 GeneOrGeneProduct denotes frequency
T7 590-594 GeneOrGeneProduct denotes SOD1
T8 681-687 GeneOrGeneProduct denotes raised
T9 817-823 GeneOrGeneProduct denotes factor
T10 871-878 GeneOrGeneProduct denotes doubled
T11 907-912 GeneOrGeneProduct denotes novel
T12 986-992 GeneOrGeneProduct denotes factor
T13 1084-1088 GeneOrGeneProduct denotes rare
T14 1152-1157 GeneOrGeneProduct denotes alpha
T15 1246-1251 GeneOrGeneProduct denotes alpha
T16 1260-1273 GeneOrGeneProduct denotes Recombination
T17 1278-1285 GeneOrGeneProduct denotes reduced
T18 1346-1350 GeneOrGeneProduct denotes SOD1
T19 1464-1468 GeneOrGeneProduct denotes SOD1

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 19-48 DiseaseOrPhenotypicFeature denotes amyotrophic lateral sclerosis D000690
T2 112-119 DiseaseOrPhenotypicFeature denotes disease D004194
T3 280-309 DiseaseOrPhenotypicFeature denotes amyotrophic lateral sclerosis D000690
T4 311-314 DiseaseOrPhenotypicFeature denotes ALS D000690
T5 325-350 DiseaseOrPhenotypicFeature denotes neurodegenerative disease D019636
T6 659-662 DiseaseOrPhenotypicFeature denotes ALS D000690
T7 777-780 DiseaseOrPhenotypicFeature denotes ALS D000690
T8 799-806 DiseaseOrPhenotypicFeature denotes disease D004194
T9 1511-1514 DiseaseOrPhenotypicFeature denotes ALS D000690
T10 1557-1576 DiseaseOrPhenotypicFeature denotes disease progression D018450

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 5-9 GeneOrGeneProduct denotes SOD1
T2 207-239 GeneOrGeneProduct denotes copper/zinc superoxide dismutase
T3 241-245 GeneOrGeneProduct denotes SOD1
T4 367-371 GeneOrGeneProduct denotes SOD1
T5 590-594 GeneOrGeneProduct denotes SOD1
T6 1152-1157 GeneOrGeneProduct denotes alpha
T7 1246-1251 GeneOrGeneProduct denotes alpha
T8 1346-1350 GeneOrGeneProduct denotes SOD1
T9 1464-1468 GeneOrGeneProduct denotes SOD1

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 19-48 DiseaseOrPhenotypicFeature denotes amyotrophic lateral sclerosis 0004976
T2 280-309 DiseaseOrPhenotypicFeature denotes amyotrophic lateral sclerosis 0004976
T3 311-314 DiseaseOrPhenotypicFeature denotes ALS 0004976
T4 325-350 DiseaseOrPhenotypicFeature denotes neurodegenerative disease 0005559
T5 659-662 DiseaseOrPhenotypicFeature denotes ALS 0004976
T6 777-780 DiseaseOrPhenotypicFeature denotes ALS 0004976
T7 1511-1514 DiseaseOrPhenotypicFeature denotes ALS 0004976

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 19-48 DiseaseOrPhenotypicFeature denotes amyotrophic lateral sclerosis D000690
T2 112-119 DiseaseOrPhenotypicFeature denotes disease D004194
T3 280-309 DiseaseOrPhenotypicFeature denotes amyotrophic lateral sclerosis D000690
T4 311-314 DiseaseOrPhenotypicFeature denotes ALS D000690
T5 325-350 DiseaseOrPhenotypicFeature denotes neurodegenerative disease D019636
T6 659-662 DiseaseOrPhenotypicFeature denotes ALS D000690
T7 777-780 DiseaseOrPhenotypicFeature denotes ALS D000690
T8 799-806 DiseaseOrPhenotypicFeature denotes disease D004194
T9 1511-1514 DiseaseOrPhenotypicFeature denotes ALS D000690
T10 1557-1576 DiseaseOrPhenotypicFeature denotes disease progression D018450

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 19-48 DiseaseOrPhenotypicFeature denotes amyotrophic lateral sclerosis D000690
T2 280-309 DiseaseOrPhenotypicFeature denotes amyotrophic lateral sclerosis D000690
T3 311-314 DiseaseOrPhenotypicFeature denotes ALS D000690
T4 325-350 DiseaseOrPhenotypicFeature denotes neurodegenerative disease D019636
T5 659-662 DiseaseOrPhenotypicFeature denotes ALS D000690
T6 777-780 DiseaseOrPhenotypicFeature denotes ALS D000690
T7 1511-1514 DiseaseOrPhenotypicFeature denotes ALS D000690

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 207-213 ChemicalEntity denotes copper D003300|http://purl.obolibrary.org/obo/CHEBI_30052|http://purl.obolibrary.org/obo/CHEBI_28694
T4 214-218 ChemicalEntity denotes zinc D015032|http://purl.obolibrary.org/obo/CHEBI_30185|http://purl.obolibrary.org/obo/CHEBI_27363
T7 219-239 ChemicalEntity denotes superoxide dismutase D013482

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 101-104 OrganismTaxon denotes Cis
T2 266-274 OrganismTaxon denotes patients
T3 1404-1407 OrganismTaxon denotes cis

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T7 219-239 ChemicalEntity denotes superoxide dismutase D013482
T4 214-218 ChemicalEntity denotes zinc http://purl.obolibrary.org/obo/CHEBI_27363|http://purl.obolibrary.org/obo/CHEBI_30185|D015032
T1 207-213 ChemicalEntity denotes copper http://purl.obolibrary.org/obo/CHEBI_28694|http://purl.obolibrary.org/obo/CHEBI_30052|D003300
T9 1464-1468 GeneOrGeneProduct denotes SOD1
T8 1346-1350 GeneOrGeneProduct denotes SOD1
T65129 1246-1251 GeneOrGeneProduct denotes alpha
T6 1152-1157 GeneOrGeneProduct denotes alpha
T5 590-594 GeneOrGeneProduct denotes SOD1
T94277 367-371 GeneOrGeneProduct denotes SOD1
T3 241-245 GeneOrGeneProduct denotes SOD1
T2 207-239 GeneOrGeneProduct denotes copper/zinc superoxide dismutase
T99746 5-9 GeneOrGeneProduct denotes SOD1
T20170 1511-1514 DiseaseOrPhenotypicFeature denotes ALS D000690
T35153 777-780 DiseaseOrPhenotypicFeature denotes ALS D000690
T58789 659-662 DiseaseOrPhenotypicFeature denotes ALS D000690
T49188 325-350 DiseaseOrPhenotypicFeature denotes neurodegenerative disease D019636
T48985 311-314 DiseaseOrPhenotypicFeature denotes ALS D000690
T70295 280-309 DiseaseOrPhenotypicFeature denotes amyotrophic lateral sclerosis D000690
T25902 19-48 DiseaseOrPhenotypicFeature denotes amyotrophic lateral sclerosis D000690
T19904 1404-1407 OrganismTaxon denotes cis
T63028 266-274 OrganismTaxon denotes patients
T67746 101-104 OrganismTaxon denotes Cis
T51635 1459-1463 SequenceVariant denotes D90A
T32129 1041-1045 SequenceVariant denotes D90A
T71090 585-589 SequenceVariant denotes D90A
T86658 362-366 SequenceVariant denotes D90A
T17666 0-4 SequenceVariant denotes D90A

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
12442272-0#0#4#geners80265967 0-4 geners80265967 denotes D90A
12442272-0#19#48#diseaseC0002736 19-48 diseaseC0002736 denotes amyotrophic lateral sclerosis
0#4#geners8026596719#48#diseaseC0002736 12442272-0#0#4#geners80265967 12442272-0#19#48#diseaseC0002736 associated_with D90A,amyotrophic lateral sclerosis

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
12442272-0#5#9#gene6647 5-9 gene6647 denotes SOD1
12442272-0#19#48#diseaseC0002736 19-48 diseaseC0002736 denotes amyotrophic lateral sclerosis
12442272-1#84#88#gene6647 241-245 gene6647 denotes SOD1
12442272-1#168#193#diseaseC0524851 325-350 diseaseC0524851 denotes neurodegenerative disease
5#9#gene664719#48#diseaseC0002736 12442272-0#5#9#gene6647 12442272-0#19#48#diseaseC0002736 associated_with SOD1,amyotrophic lateral sclerosis
84#88#gene6647168#193#diseaseC0524851 12442272-1#84#88#gene6647 12442272-1#168#193#diseaseC0524851 associated_with SOD1,neurodegenerative disease

DisGeNET

Id Subject Object Predicate Lexical cue
T0 241-245 gene:6647 denotes SOD1
T1 280-309 disease:C0002736 denotes amyotrophic lateral sclerosis
T2 241-245 gene:6647 denotes SOD1
T3 311-314 disease:C0002736 denotes ALS
T4 241-245 gene:6647 denotes SOD1
T5 325-350 disease:C0524851 denotes neurodegenerative disease
R1 T0 T1 associated_with SOD1,amyotrophic lateral sclerosis
R2 T2 T3 associated_with SOD1,ALS
R3 T4 T5 associated_with SOD1,neurodegenerative disease