PubMed:16970763
Annnotations
TEST-DiseaseOrPhenotypicFeature
| Id | Subject | Object | Predicate | Lexical cue | #label |
|---|---|---|---|---|---|
| T1 | 43-57 | DiseaseOrPhenotypicFeature | denotes | Norrie disease | C537849 |
| T2 | 59-95 | DiseaseOrPhenotypicFeature | denotes | familial exudative vitreoretinopathy | D000080345 |
| T3 | 100-126 | DiseaseOrPhenotypicFeature | denotes | retinopathy of prematurity | D012178 |
| T4 | 192-206 | DiseaseOrPhenotypicFeature | denotes | Norrie disease | C537849 |
| T5 | 244-260 | DiseaseOrPhenotypicFeature | denotes | retinal diseases | D012164 |
| T6 | 261-275 | DiseaseOrPhenotypicFeature | denotes | Norrie disease | C537849 |
| T7 | 286-322 | DiseaseOrPhenotypicFeature | denotes | familial exudative vitreoretinopathy | D000080345 |
| T8 | 324-328 | DiseaseOrPhenotypicFeature | denotes | FEVR | D000080345 |
| T9 | 331-345 | DiseaseOrPhenotypicFeature | denotes | Coat's disease | D058456 |
| T10 | 350-376 | DiseaseOrPhenotypicFeature | denotes | retinopathy of prematurity | D012178 |
| T11 | 378-381 | DiseaseOrPhenotypicFeature | denotes | ROP | D012178 |
| T12 | 424-428 | DiseaseOrPhenotypicFeature | denotes | FEVR | D000080345 |
| T13 | 434-448 | DiseaseOrPhenotypicFeature | denotes | Coat's disease | D058456 |
| T14 | 453-456 | DiseaseOrPhenotypicFeature | denotes | ROP | D012178 |
| T15 | 977-981 | DiseaseOrPhenotypicFeature | denotes | FEVR | D000080345 |
| T16 | 1023-1037 | DiseaseOrPhenotypicFeature | denotes | Norrie disease | C537849 |
| T17 | 1195-1198 | DiseaseOrPhenotypicFeature | denotes | ROP | D012178 |
| T18 | 1313-1317 | DiseaseOrPhenotypicFeature | denotes | FEVR | D000080345 |
| T19 | 1355-1369 | DiseaseOrPhenotypicFeature | denotes | Norrie disease | C537849 |
| T20 | 1375-1383 | DiseaseOrPhenotypicFeature | denotes | deafness | D003638 |
| T21 | 1388-1406 | DiseaseOrPhenotypicFeature | denotes | mental retardation | D008607 |
| T22 | 1544-1558 | DiseaseOrPhenotypicFeature | denotes | Norrie disease | C537849 |
| T23 | 1578-1582 | DiseaseOrPhenotypicFeature | denotes | FEVR | D000080345 |
| T24 | 1664-1667 | DiseaseOrPhenotypicFeature | denotes | ROP | D012178 |
| T25 | 1773-1791 | DiseaseOrPhenotypicFeature | denotes | retinal detachment | D012163 |
| T26 | 1837-1851 | DiseaseOrPhenotypicFeature | denotes | Norrie disease | C537849 |
TEST-ChemicalEntity
| Id | Subject | Object | Predicate | Lexical cue | ID: |
|---|---|---|---|---|---|
| T1 | 17-20 | ChemicalEntity | denotes | NDP | http://purl.obolibrary.org/obo/CHEBI_16862 |
| T2 | 208-211 | ChemicalEntity | denotes | NDP | http://purl.obolibrary.org/obo/CHEBI_16862 |
| T3 | 244-251 | ChemicalEntity | denotes | retinal | D012172|http://purl.obolibrary.org/obo/CHEBI_15035 |
| T5 | 600-603 | ChemicalEntity | denotes | NDP | http://purl.obolibrary.org/obo/CHEBI_16862 |
| T6 | 936-939 | ChemicalEntity | denotes | NDP | http://purl.obolibrary.org/obo/CHEBI_16862 |
| T7 | 1145-1148 | ChemicalEntity | denotes | NDP | http://purl.obolibrary.org/obo/CHEBI_16862 |
| T8 | 1472-1475 | ChemicalEntity | denotes | NDP | http://purl.obolibrary.org/obo/CHEBI_16862 |
| T9 | 1738-1744 | ChemicalEntity | denotes | oxygen | D010100|http://purl.obolibrary.org/obo/CHEBI_25805 |
| T11 | 1773-1780 | ChemicalEntity | denotes | retinal | D012172|http://purl.obolibrary.org/obo/CHEBI_15035 |
TEST-OrganismTaxon
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 457-465 | OrganismTaxon | denotes | patients |
| T2 | 982-989 | OrganismTaxon | denotes | patient |
| T3 | 1038-1046 | OrganismTaxon | denotes | patients |
Test-SequenceVariant
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 960-969 | SequenceVariant | denotes | Leu103Val |
| T2 | 994-1002 | SequenceVariant | denotes | His43Arg |
| T3 | 1084-1098 | SequenceVariant | denotes | 14-bp deletion |
| T4 | 1223-1237 | SequenceVariant | denotes | 14-bp deletion |
Test-GeneOrGeneProduct
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 43-57 | GeneOrGeneProduct | denotes | Norrie disease |
| T2 | 192-206 | GeneOrGeneProduct | denotes | Norrie disease |
| T3 | 261-275 | GeneOrGeneProduct | denotes | Norrie disease |
| T4 | 324-328 | GeneOrGeneProduct | denotes | FEVR |
| T5 | 331-345 | GeneOrGeneProduct | denotes | Coat's disease |
| T6 | 424-428 | GeneOrGeneProduct | denotes | FEVR |
| T7 | 434-448 | GeneOrGeneProduct | denotes | Coat's disease |
| T8 | 977-981 | GeneOrGeneProduct | denotes | FEVR |
| T9 | 1023-1037 | GeneOrGeneProduct | denotes | Norrie disease |
| T10 | 1313-1317 | GeneOrGeneProduct | denotes | FEVR |
| T11 | 1355-1369 | GeneOrGeneProduct | denotes | Norrie disease |
| T12 | 1544-1558 | GeneOrGeneProduct | denotes | Norrie disease |
| T13 | 1578-1582 | GeneOrGeneProduct | denotes | FEVR |
| T14 | 1837-1851 | GeneOrGeneProduct | denotes | Norrie disease |
Test-merged-2
| Id | Subject | Object | Predicate | Lexical cue | #label | ID: |
|---|---|---|---|---|---|---|
| T96247 | 960-969 | SequenceVariant | denotes | Leu103Val | ||
| T14487 | 994-1002 | SequenceVariant | denotes | His43Arg | ||
| T9660 | 1084-1098 | SequenceVariant | denotes | 14-bp deletion | ||
| T63952 | 1223-1237 | SequenceVariant | denotes | 14-bp deletion | ||
| T97652 | 17-20 | ChemicalEntity | denotes | NDP | http://purl.obolibrary.org/obo/CHEBI_16862 | |
| T43087 | 208-211 | ChemicalEntity | denotes | NDP | http://purl.obolibrary.org/obo/CHEBI_16862 | |
| T88094 | 244-251 | ChemicalEntity | denotes | retinal | http://purl.obolibrary.org/obo/CHEBI_15035|D012172 | |
| T89095 | 600-603 | ChemicalEntity | denotes | NDP | http://purl.obolibrary.org/obo/CHEBI_16862 | |
| T48937 | 936-939 | ChemicalEntity | denotes | NDP | http://purl.obolibrary.org/obo/CHEBI_16862 | |
| T2599 | 1145-1148 | ChemicalEntity | denotes | NDP | http://purl.obolibrary.org/obo/CHEBI_16862 | |
| T3558 | 1472-1475 | ChemicalEntity | denotes | NDP | http://purl.obolibrary.org/obo/CHEBI_16862 | |
| T78437 | 1738-1744 | ChemicalEntity | denotes | oxygen | D010100|http://purl.obolibrary.org/obo/CHEBI_25805 | |
| T69612 | 1773-1780 | ChemicalEntity | denotes | retinal | D012172|http://purl.obolibrary.org/obo/CHEBI_15035 | |
| T98643 | 43-57 | GeneOrGeneProduct | denotes | Norrie disease | ||
| T70926 | 192-206 | GeneOrGeneProduct | denotes | Norrie disease | ||
| T48424 | 261-275 | GeneOrGeneProduct | denotes | Norrie disease | ||
| T32694 | 324-328 | GeneOrGeneProduct | denotes | FEVR | ||
| T58491 | 331-345 | GeneOrGeneProduct | denotes | Coat's disease | ||
| T61299 | 424-428 | GeneOrGeneProduct | denotes | FEVR | ||
| T12916 | 434-448 | GeneOrGeneProduct | denotes | Coat's disease | ||
| T80610 | 977-981 | GeneOrGeneProduct | denotes | FEVR | ||
| T99823 | 1023-1037 | GeneOrGeneProduct | denotes | Norrie disease | ||
| T94875 | 1313-1317 | GeneOrGeneProduct | denotes | FEVR | ||
| T65203 | 1355-1369 | GeneOrGeneProduct | denotes | Norrie disease | ||
| T52040 | 1544-1558 | GeneOrGeneProduct | denotes | Norrie disease | ||
| T95271 | 1578-1582 | GeneOrGeneProduct | denotes | FEVR | ||
| T23312 | 1837-1851 | GeneOrGeneProduct | denotes | Norrie disease | ||
| T65212 | 457-465 | OrganismTaxon | denotes | patients | ||
| T42672 | 982-989 | OrganismTaxon | denotes | patient | ||
| T3697 | 1038-1046 | OrganismTaxon | denotes | patients | ||
| T1 | 43-57 | DiseaseOrPhenotypicFeature | denotes | Norrie disease | C537849 | |
| T2 | 59-95 | DiseaseOrPhenotypicFeature | denotes | familial exudative vitreoretinopathy | D000080345 | |
| T3 | 100-126 | DiseaseOrPhenotypicFeature | denotes | retinopathy of prematurity | D012178 | |
| T4 | 192-206 | DiseaseOrPhenotypicFeature | denotes | Norrie disease | C537849 | |
| T5 | 244-260 | DiseaseOrPhenotypicFeature | denotes | retinal diseases | D012164 | |
| T6 | 261-275 | DiseaseOrPhenotypicFeature | denotes | Norrie disease | C537849 | |
| T7 | 286-322 | DiseaseOrPhenotypicFeature | denotes | familial exudative vitreoretinopathy | D000080345 | |
| T8 | 324-328 | DiseaseOrPhenotypicFeature | denotes | FEVR | D000080345 | |
| T9 | 331-345 | DiseaseOrPhenotypicFeature | denotes | Coat's disease | D058456 | |
| T10 | 350-376 | DiseaseOrPhenotypicFeature | denotes | retinopathy of prematurity | D012178 | |
| T11 | 378-381 | DiseaseOrPhenotypicFeature | denotes | ROP | D012178 | |
| T12 | 424-428 | DiseaseOrPhenotypicFeature | denotes | FEVR | D000080345 | |
| T13 | 434-448 | DiseaseOrPhenotypicFeature | denotes | Coat's disease | D058456 | |
| T14 | 453-456 | DiseaseOrPhenotypicFeature | denotes | ROP | D012178 | |
| T15 | 977-981 | DiseaseOrPhenotypicFeature | denotes | FEVR | D000080345 | |
| T16 | 1023-1037 | DiseaseOrPhenotypicFeature | denotes | Norrie disease | C537849 | |
| T17 | 1195-1198 | DiseaseOrPhenotypicFeature | denotes | ROP | D012178 | |
| T18 | 1313-1317 | DiseaseOrPhenotypicFeature | denotes | FEVR | D000080345 | |
| T19 | 1355-1369 | DiseaseOrPhenotypicFeature | denotes | Norrie disease | C537849 | |
| T20 | 1375-1383 | DiseaseOrPhenotypicFeature | denotes | deafness | D003638 | |
| T21 | 1388-1406 | DiseaseOrPhenotypicFeature | denotes | mental retardation | D008607 | |
| T22 | 1544-1558 | DiseaseOrPhenotypicFeature | denotes | Norrie disease | C537849 | |
| T23 | 1578-1582 | DiseaseOrPhenotypicFeature | denotes | FEVR | D000080345 | |
| T24 | 1664-1667 | DiseaseOrPhenotypicFeature | denotes | ROP | D012178 | |
| T25 | 1773-1791 | DiseaseOrPhenotypicFeature | denotes | retinal detachment | D012163 | |
| T26 | 1837-1851 | DiseaseOrPhenotypicFeature | denotes | Norrie disease | C537849 |
Test-merged
| Id | Subject | Object | Predicate | Lexical cue | #label | ID: |
|---|---|---|---|---|---|---|
| T26 | 1837-1851 | DiseaseOrPhenotypicFeature | denotes | Norrie disease | C537849 | |
| T25 | 1773-1791 | DiseaseOrPhenotypicFeature | denotes | retinal detachment | D012163 | |
| T24 | 1664-1667 | DiseaseOrPhenotypicFeature | denotes | ROP | D012178 | |
| T23 | 1578-1582 | DiseaseOrPhenotypicFeature | denotes | FEVR | D000080345 | |
| T22 | 1544-1558 | DiseaseOrPhenotypicFeature | denotes | Norrie disease | C537849 | |
| T21 | 1388-1406 | DiseaseOrPhenotypicFeature | denotes | mental retardation | D008607 | |
| T20 | 1375-1383 | DiseaseOrPhenotypicFeature | denotes | deafness | D003638 | |
| T19 | 1355-1369 | DiseaseOrPhenotypicFeature | denotes | Norrie disease | C537849 | |
| T18 | 1313-1317 | DiseaseOrPhenotypicFeature | denotes | FEVR | D000080345 | |
| T17 | 1195-1198 | DiseaseOrPhenotypicFeature | denotes | ROP | D012178 | |
| T16 | 1023-1037 | DiseaseOrPhenotypicFeature | denotes | Norrie disease | C537849 | |
| T15 | 977-981 | DiseaseOrPhenotypicFeature | denotes | FEVR | D000080345 | |
| T14 | 453-456 | DiseaseOrPhenotypicFeature | denotes | ROP | D012178 | |
| T13 | 434-448 | DiseaseOrPhenotypicFeature | denotes | Coat's disease | D058456 | |
| T12 | 424-428 | DiseaseOrPhenotypicFeature | denotes | FEVR | D000080345 | |
| T11 | 378-381 | DiseaseOrPhenotypicFeature | denotes | ROP | D012178 | |
| T10 | 350-376 | DiseaseOrPhenotypicFeature | denotes | retinopathy of prematurity | D012178 | |
| T9 | 331-345 | DiseaseOrPhenotypicFeature | denotes | Coat's disease | D058456 | |
| T8 | 324-328 | DiseaseOrPhenotypicFeature | denotes | FEVR | D000080345 | |
| T7 | 286-322 | DiseaseOrPhenotypicFeature | denotes | familial exudative vitreoretinopathy | D000080345 | |
| T6 | 261-275 | DiseaseOrPhenotypicFeature | denotes | Norrie disease | C537849 | |
| T5 | 244-260 | DiseaseOrPhenotypicFeature | denotes | retinal diseases | D012164 | |
| T4 | 192-206 | DiseaseOrPhenotypicFeature | denotes | Norrie disease | C537849 | |
| T3 | 100-126 | DiseaseOrPhenotypicFeature | denotes | retinopathy of prematurity | D012178 | |
| T2 | 59-95 | DiseaseOrPhenotypicFeature | denotes | familial exudative vitreoretinopathy | D000080345 | |
| T1 | 43-57 | DiseaseOrPhenotypicFeature | denotes | Norrie disease | C537849 | |
| T3697 | 1038-1046 | OrganismTaxon | denotes | patients | ||
| T42672 | 982-989 | OrganismTaxon | denotes | patient | ||
| T65212 | 457-465 | OrganismTaxon | denotes | patients | ||
| T78437 | 1738-1744 | ChemicalEntity | denotes | oxygen | http://purl.obolibrary.org/obo/CHEBI_25805|D010100 | |
| T3558 | 1472-1475 | ChemicalEntity | denotes | NDP | http://purl.obolibrary.org/obo/CHEBI_16862 | |
| T2599 | 1145-1148 | ChemicalEntity | denotes | NDP | http://purl.obolibrary.org/obo/CHEBI_16862 | |
| T48937 | 936-939 | ChemicalEntity | denotes | NDP | http://purl.obolibrary.org/obo/CHEBI_16862 | |
| T89095 | 600-603 | ChemicalEntity | denotes | NDP | http://purl.obolibrary.org/obo/CHEBI_16862 | |
| T43087 | 208-211 | ChemicalEntity | denotes | NDP | http://purl.obolibrary.org/obo/CHEBI_16862 | |
| T97652 | 17-20 | ChemicalEntity | denotes | NDP | http://purl.obolibrary.org/obo/CHEBI_16862 | |
| T63952 | 1223-1237 | SequenceVariant | denotes | 14-bp deletion | ||
| T9660 | 1084-1098 | SequenceVariant | denotes | 14-bp deletion | ||
| T14487 | 994-1002 | SequenceVariant | denotes | His43Arg | ||
| T96247 | 960-969 | SequenceVariant | denotes | Leu103Val |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 16970763-5#98#106#geners104894874 | 994-1002 | geners104894874 | denotes | His43Arg |
| 16970763-5#127#141#diseaseC0266526 | 1023-1037 | diseaseC0266526 | denotes | Norrie disease |
| 98#106#geners104894874127#141#diseaseC0266526 | 16970763-5#98#106#geners104894874 | 16970763-5#127#141#diseaseC0266526 | associated_with | His43Arg,Norrie disease |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 16970763-0#17#20#gene4693 | 17-20 | gene4693 | denotes | NDP |
| 16970763-0#43#57#diseaseC0266526 | 43-57 | diseaseC0266526 | denotes | Norrie disease |
| 16970763-1#68#71#gene4693 | 208-211 | gene4693 | denotes | NDP |
| 16970763-1#104#120#diseaseC0035309 | 244-260 | diseaseC0035309 | denotes | retinal diseases |
| 16970763-1#191#205#diseaseC0154832 | 331-345 | diseaseC0154832 | denotes | Coat's disease |
| 16970763-2#207#210#gene4693 | 600-603 | gene4693 | denotes | NDP |
| 16970763-2#83#99#diseaseC0021294 | 476-492 | diseaseC0021294 | denotes | premature babies |
| 16970763-6#97#100#gene4693 | 1145-1148 | gene4693 | denotes | NDP |
| 16970763-6#147#150#diseaseC0035344 | 1195-1198 | diseaseC0035344 | denotes | ROP |
| 16970763-9#52#55#gene4693 | 1472-1475 | gene4693 | denotes | NDP |
| 16970763-9#158#162#diseaseC0339539 | 1578-1582 | diseaseC0339539 | denotes | FEVR |
| 17#20#gene469343#57#diseaseC0266526 | 16970763-0#17#20#gene4693 | 16970763-0#43#57#diseaseC0266526 | associated_with | NDP,Norrie disease |
| 68#71#gene4693104#120#diseaseC0035309 | 16970763-1#68#71#gene4693 | 16970763-1#104#120#diseaseC0035309 | associated_with | NDP,retinal diseases |
| 68#71#gene4693191#205#diseaseC0154832 | 16970763-1#68#71#gene4693 | 16970763-1#191#205#diseaseC0154832 | associated_with | NDP,Coat's disease |
| 207#210#gene469383#99#diseaseC0021294 | 16970763-2#207#210#gene4693 | 16970763-2#83#99#diseaseC0021294 | associated_with | NDP,premature babies |
| 97#100#gene4693147#150#diseaseC0035344 | 16970763-6#97#100#gene4693 | 16970763-6#147#150#diseaseC0035344 | associated_with | NDP,ROP |
| 52#55#gene4693158#162#diseaseC0339539 | 16970763-9#52#55#gene4693 | 16970763-9#158#162#diseaseC0339539 | associated_with | NDP,FEVR |
tmVarCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 960-969 | ProteinMutation:p|SUB|L|103|V | denotes | Leu103Val |
| T2 | 994-1002 | ProteinMutation:p|SUB|H|43|R | denotes | His43Arg |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 1145-1148 | gene:4693 | denotes | NDP |
| T1 | 1195-1198 | disease:C0035344 | denotes | ROP |
| R1 | T0 | T1 | associated_with | NDP,ROP |