PubMed:16001362
Annnotations
TEST-DiseaseOrPhenotypicFeature
| Id | Subject | Object | Predicate | Lexical cue | #label |
|---|---|---|---|---|---|
| T1 | 22-39 | DiseaseOrPhenotypicFeature | denotes | cerebellar ataxia | D002524 |
| T2 | 274-291 | DiseaseOrPhenotypicFeature | denotes | cerebellar ataxia | D002524 |
| T3 | 327-354 | DiseaseOrPhenotypicFeature | denotes | neurodegenerative disorders | D019636 |
| T4 | 455-461 | DiseaseOrPhenotypicFeature | denotes | ataxia | D001259 |
| T5 | 534-551 | DiseaseOrPhenotypicFeature | denotes | cerebellar ataxia | D002524 |
| T6 | 623-641 | DiseaseOrPhenotypicFeature | denotes | hearing impairment | D034381 |
| T7 | 665-671 | DiseaseOrPhenotypicFeature | denotes | ataxia | D001259 |
| T8 | 1060-1067 | DiseaseOrPhenotypicFeature | denotes | atrophy | D001284 |
TEST-ChemicalEntity
| Id | Subject | Object | Predicate | Lexical cue | ID: |
|---|---|---|---|---|---|
| T1 | 211-218 | ChemicalEntity | denotes | guanine | D006147|http://purl.obolibrary.org/obo/CHEBI_16235 |
| T3 | 1243-1250 | ChemicalEntity | denotes | guanine | D006147|http://purl.obolibrary.org/obo/CHEBI_16235 |
| T5 | 1292-1299 | ChemicalEntity | denotes | GTPases | D020558 |
TEST-OrganismTaxon
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 791-799 | OrganismTaxon | denotes | patients |
| T2 | 1903-1908 | OrganismTaxon | denotes | human |
| T3 | 2106-2112 | OrganismTaxon | denotes | humans |
Test-SequenceVariant
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 858-863 | SequenceVariant | denotes | C-->T |
Test-GeneOrGeneProduct
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 172-181 | GeneOrGeneProduct | denotes | a protein |
| T2 | 187-195 | GeneOrGeneProduct | denotes | spectrin |
| T3 | 211-245 | GeneOrGeneProduct | denotes | guanine-nucleotide exchange-factor |
| T4 | 293-297 | GeneOrGeneProduct | denotes | ADCA |
| T5 | 489-493 | GeneOrGeneProduct | denotes | ADCA |
| T6 | 927-949 | GeneOrGeneProduct | denotes | translation initiation |
| T7 | 973-985 | GeneOrGeneProduct | denotes | hypothetical |
| T8 | 1030-1043 | GeneOrGeneProduct | denotes | puratrophin-1 |
| T9 | 1046-1088 | GeneOrGeneProduct | denotes | Purkinje cell atrophy associated protein-1 |
| T10 | 1107-1120 | GeneOrGeneProduct | denotes | puratrophin-1 |
| T11 | 1219-1227 | GeneOrGeneProduct | denotes | spectrin |
| T12 | 1251-1277 | GeneOrGeneProduct | denotes | nucleotide exchange factor |
| T13 | 1279-1282 | GeneOrGeneProduct | denotes | GEF |
| T14 | 1288-1299 | GeneOrGeneProduct | denotes | Rho GTPases |
| T15 | 1368-1381 | GeneOrGeneProduct | denotes | puratrophin-1 |
| T16 | 1413-1418 | GeneOrGeneProduct | denotes | actin |
| T17 | 1435-1450 | GeneOrGeneProduct | denotes | Golgi apparatus |
| T18 | 1452-1465 | GeneOrGeneProduct | denotes | Puratrophin-1 |
| T19 | 1626-1630 | GeneOrGeneProduct | denotes | ADCA |
| T20 | 1686-1699 | GeneOrGeneProduct | denotes | puratrophin-1 |
| T21 | 1721-1737 | GeneOrGeneProduct | denotes | membrane protein |
| T22 | 1742-1750 | GeneOrGeneProduct | denotes | spectrin |
| T23 | 2048-2051 | GeneOrGeneProduct | denotes | GEF |
Test-merged-2
| Id | Subject | Object | Predicate | Lexical cue | #label | ID: |
|---|---|---|---|---|---|---|
| T89093 | 858-863 | SequenceVariant | denotes | C-->T | ||
| T85272 | 211-218 | ChemicalEntity | denotes | guanine | D006147|http://purl.obolibrary.org/obo/CHEBI_16235 | |
| T35941 | 1243-1250 | ChemicalEntity | denotes | guanine | D006147|http://purl.obolibrary.org/obo/CHEBI_16235 | |
| T41683 | 1292-1299 | ChemicalEntity | denotes | GTPases | D020558 | |
| T35266 | 172-181 | GeneOrGeneProduct | denotes | a protein | ||
| T28939 | 187-195 | GeneOrGeneProduct | denotes | spectrin | ||
| T94131 | 211-245 | GeneOrGeneProduct | denotes | guanine-nucleotide exchange-factor | ||
| T26106 | 293-297 | GeneOrGeneProduct | denotes | ADCA | ||
| T90414 | 489-493 | GeneOrGeneProduct | denotes | ADCA | ||
| T90289 | 927-949 | GeneOrGeneProduct | denotes | translation initiation | ||
| T66078 | 973-985 | GeneOrGeneProduct | denotes | hypothetical | ||
| T97283 | 1030-1043 | GeneOrGeneProduct | denotes | puratrophin-1 | ||
| T9 | 1046-1088 | GeneOrGeneProduct | denotes | Purkinje cell atrophy associated protein-1 | ||
| T10 | 1107-1120 | GeneOrGeneProduct | denotes | puratrophin-1 | ||
| T11 | 1219-1227 | GeneOrGeneProduct | denotes | spectrin | ||
| T12 | 1251-1277 | GeneOrGeneProduct | denotes | nucleotide exchange factor | ||
| T13 | 1279-1282 | GeneOrGeneProduct | denotes | GEF | ||
| T14 | 1288-1299 | GeneOrGeneProduct | denotes | Rho GTPases | ||
| T15 | 1368-1381 | GeneOrGeneProduct | denotes | puratrophin-1 | ||
| T16 | 1413-1418 | GeneOrGeneProduct | denotes | actin | ||
| T17 | 1435-1450 | GeneOrGeneProduct | denotes | Golgi apparatus | ||
| T18 | 1452-1465 | GeneOrGeneProduct | denotes | Puratrophin-1 | ||
| T19 | 1626-1630 | GeneOrGeneProduct | denotes | ADCA | ||
| T20 | 1686-1699 | GeneOrGeneProduct | denotes | puratrophin-1 | ||
| T21 | 1721-1737 | GeneOrGeneProduct | denotes | membrane protein | ||
| T22 | 1742-1750 | GeneOrGeneProduct | denotes | spectrin | ||
| T23 | 2048-2051 | GeneOrGeneProduct | denotes | GEF | ||
| T66283 | 791-799 | OrganismTaxon | denotes | patients | ||
| T86132 | 1903-1908 | OrganismTaxon | denotes | human | ||
| T3750 | 2106-2112 | OrganismTaxon | denotes | humans | ||
| T1 | 22-39 | DiseaseOrPhenotypicFeature | denotes | cerebellar ataxia | D002524 | |
| T2 | 274-291 | DiseaseOrPhenotypicFeature | denotes | cerebellar ataxia | D002524 | |
| T3 | 327-354 | DiseaseOrPhenotypicFeature | denotes | neurodegenerative disorders | D019636 | |
| T4 | 455-461 | DiseaseOrPhenotypicFeature | denotes | ataxia | D001259 | |
| T5 | 534-551 | DiseaseOrPhenotypicFeature | denotes | cerebellar ataxia | D002524 | |
| T6 | 623-641 | DiseaseOrPhenotypicFeature | denotes | hearing impairment | D034381 | |
| T7 | 665-671 | DiseaseOrPhenotypicFeature | denotes | ataxia | D001259 | |
| T8 | 1060-1067 | DiseaseOrPhenotypicFeature | denotes | atrophy | D001284 |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 255-273 | HP_0000006 | denotes | Autosomal dominant |
| T2 | 274-291 | HP_0001251 | denotes | cerebellar ataxia |
| T3 | 285-291 | HP_0001251 | denotes | ataxia |
| T4 | 455-461 | HP_0001251 | denotes | ataxia |
| T5 | 534-551 | HP_0001251 | denotes | cerebellar ataxia |
| T6 | 545-551 | HP_0001251 | denotes | ataxia |
| T7 | 609-641 | HP_0000407 | denotes | sensorineural hearing impairment |
| T8 | 623-641 | HP_0000365 | denotes | hearing impairment |
| T9 | 665-671 | HP_0001251 | denotes | ataxia |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 16001362-0#207#245#gene64283 | 207-245 | gene64283 | denotes | Rho guanine-nucleotide exchange-factor |
| 16001362-0#22#39#diseaseC0007758 | 22-39 | diseaseC0007758 | denotes | cerebellar ataxia |
| 16001362-8#255#258#gene9181 | 2048-2051 | gene9181 | denotes | GEF |
| 16001362-8#255#258#gene56731 | 2048-2051 | gene56731 | denotes | GEF |
| 16001362-8#286#309#diseaseC0262404 | 2079-2102 | diseaseC0262404 | denotes | cerebellar degeneration |
| 207#245#gene6428322#39#diseaseC0007758 | 16001362-0#207#245#gene64283 | 16001362-0#22#39#diseaseC0007758 | associated_with | Rho guanine-nucleotide exchange-factor,cerebellar ataxia |
| 255#258#gene9181286#309#diseaseC0262404 | 16001362-8#255#258#gene9181 | 16001362-8#286#309#diseaseC0262404 | associated_with | GEF,cerebellar degeneration |
| 255#258#gene56731286#309#diseaseC0262404 | 16001362-8#255#258#gene56731 | 16001362-8#286#309#diseaseC0262404 | associated_with | GEF,cerebellar degeneration |
tmVarCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 858-863 | DNAMutation:|SUB|C||T | denotes | C-->T |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 207-245 | gene:64283 | denotes | Rho guanine-nucleotide exchange-factor |
| T1 | 22-39 | disease:C0007758 | denotes | cerebellar ataxia |
| T2 | 2048-2051 | gene:56731 | denotes | GEF |
| T3 | 2079-2102 | disease:C0262404 | denotes | cerebellar degeneration |
| T4 | 2048-2051 | gene:9181 | denotes | GEF |
| T5 | 2079-2102 | disease:C0262404 | denotes | cerebellar degeneration |
| R1 | T0 | T1 | associated_with | Rho guanine-nucleotide exchange-factor,cerebellar ataxia |
| R2 | T2 | T3 | associated_with | GEF,cerebellar degeneration |
| R3 | T4 | T5 | associated_with | GEF,cerebellar degeneration |