PubMed:10484772
Annnotations
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 187-203 | HP_0000479 | denotes | abnormal retinal |
| T2 | 187-203 | HP_0007901 | denotes | abnormal retinal |
| T3 | 187-212 | HP_0007797 | denotes | abnormal retinal vascular |
| T4 | 245-259 | HP_0001009 | denotes | telangiectasis |
| T5 | 335-363 | HP_0012231 | denotes | exudative retinal detachment |
| T6 | 335-352 | HP_0001146 | denotes | exudative retinal |
| T7 | 335-352 | HP_0001147 | denotes | exudative retinal |
| T8 | 345-363 | HP_0000541 | denotes | retinal detachment |
| T9 | 754-770 | HP_0001428 | denotes | somatic mutation |
| T10 | 859-873 | HP_0001009 | denotes | telangiectasis |
| T11 | 890-906 | HP_0001428 | denotes | somatic mutation |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10484772-0#99#102#gene4693 | 99-102 | gene4693 | denotes | NDP |
| 10484772-0#41#63#diseaseC0154832 | 41-63 | diseaseC0154832 | denotes | retinal telangiectasis |
| 10484772-6#78#81#gene4693 | 914-917 | gene4693 | denotes | NDP |
| 10484772-6#155#158#gene4693 | 991-994 | gene4693 | denotes | NDP |
| 10484772-6#23#37#diseaseC0039446 | 859-873 | diseaseC0039446 | denotes | telangiectasis |
| 99#102#gene469341#63#diseaseC0154832 | 10484772-0#99#102#gene4693 | 10484772-0#41#63#diseaseC0154832 | associated_with | NDP,retinal telangiectasis |
| 78#81#gene469323#37#diseaseC0039446 | 10484772-6#78#81#gene4693 | 10484772-6#23#37#diseaseC0039446 | associated_with | NDP,telangiectasis |
| 155#158#gene469323#37#diseaseC0039446 | 10484772-6#155#158#gene4693 | 10484772-6#23#37#diseaseC0039446 | associated_with | NDP,telangiectasis |
performance-test
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 828-834 | http://purl.obolibrary.org/obo/UBERON_0000479 | denotes | tissue |
| PD-UBERON-AE-B_T2 | 22-28 | http://purl.obolibrary.org/obo/UBERON_0000966 | denotes | retina |
| PD-UBERON-AE-B_T3 | 669-676 | http://purl.obolibrary.org/obo/UBERON_0000966 | denotes | retinas |
| PD-UBERON-AE-B_T4 | 1023-1029 | http://purl.obolibrary.org/obo/UBERON_0000966 | denotes | retina |
| PD-UBERON-AE-B_T5 | 335-344 | http://purl.obolibrary.org/obo/UBERON_0007780 | denotes | exudative |
| PD-UBERON-AE-B_T6 | 696-700 | http://purl.obolibrary.org/obo/UBERON_0000970 | denotes | eyes |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| AB1 | 335-363 | HP:0012231 | denotes | exudative retinal detachment |
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-151 | Sentence | denotes | Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis. |
| TextSentencer_T2 | 152-365 | Sentence | denotes | Coats' disease is characterized by abnormal retinal vascular development (so-called 'retinal telangiectasis') which results in massive intraretinal and subretinal lipid accumulation (exudative retinal detachment). |
| TextSentencer_T3 | 366-463 | Sentence | denotes | The classical form of Coats' disease is almost invariably isolated, unilateral and seen in males. |
| TextSentencer_T4 | 464-564 | Sentence | denotes | A female with a unilateral variant of Coats' disease gave birth to a son affected by Norrie disease. |
| TextSentencer_T5 | 565-639 | Sentence | denotes | Both carried a missense mutation within the NDP gene on chromosome Xp11.2. |
| TextSentencer_T6 | 640-835 | Sentence | denotes | Subsequently analysis of the retinas of nine enucleated eyes from males with Coats' disease demonstrated in one a somatic mutation in the NDP gene which was not present within non-retinal tissue. |
| TextSentencer_T7 | 836-1030 | Sentence | denotes | We suggest that Coats' telangiectasis is secondary to somatic mutation in the NDP gene which results in a deficiency of norrin (the protein product of the NDP gene) within the developing retina. |
| TextSentencer_T8 | 1031-1128 | Sentence | denotes | This supports recent observations that the protein is critical for normal retinal vasculogenesis. |
| T1 | 0-151 | Sentence | denotes | Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis. |
| T2 | 152-365 | Sentence | denotes | Coats' disease is characterized by abnormal retinal vascular development (so-called 'retinal telangiectasis') which results in massive intraretinal and subretinal lipid accumulation (exudative retinal detachment). |
| T3 | 366-463 | Sentence | denotes | The classical form of Coats' disease is almost invariably isolated, unilateral and seen in males. |
| T4 | 464-564 | Sentence | denotes | A female with a unilateral variant of Coats' disease gave birth to a son affected by Norrie disease. |
| T5 | 565-639 | Sentence | denotes | Both carried a missense mutation within the NDP gene on chromosome Xp11.2. |
| T6 | 640-835 | Sentence | denotes | Subsequently analysis of the retinas of nine enucleated eyes from males with Coats' disease demonstrated in one a somatic mutation in the NDP gene which was not present within non-retinal tissue. |
| T7 | 836-1030 | Sentence | denotes | We suggest that Coats' telangiectasis is secondary to somatic mutation in the NDP gene which results in a deficiency of norrin (the protein product of the NDP gene) within the developing retina. |
| T8 | 1031-1128 | Sentence | denotes | This supports recent observations that the protein is critical for normal retinal vasculogenesis. |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 0-14 | ORDO:190 | denotes | Coats' disease |
| AB1 | 388-402 | ORDO:190 | denotes | Coats' disease |
| AB2 | 502-516 | ORDO:190 | denotes | Coats' disease |
| AB3 | 549-563 | ORDO:649 | denotes | Norrie disease |
| AB4 | 717-731 | ORDO:190 | denotes | Coats' disease |
UBERON-AE
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| PD-UBERON-AE-B_T1 | 22-28 | http://purl.obolibrary.org/obo/UBERON_0000966 | denotes | retina |
| PD-UBERON-AE-B_T2 | 1023-1029 | http://purl.obolibrary.org/obo/UBERON_0000966 | denotes | retina |
| PD-UBERON-AE-B_T3 | 335-344 | http://purl.obolibrary.org/obo/UBERON_0007780 | denotes | exudative |
| PD-UBERON-AE-B_T4 | 696-700 | http://purl.obolibrary.org/obo/UBERON_0000970 | denotes | eyes |
| PD-UBERON-AE-B_T5 | 828-834 | http://purl.obolibrary.org/obo/UBERON_0000479 | denotes | tissue |
NCBIDiseaseCorpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-14 | SpecificDisease:D058456 | denotes | Coats' disease |
| T2 | 30-63 | SpecificDisease:D058456 | denotes | unilateral retinal telangiectasis |
| T3 | 152-166 | SpecificDisease:D058456 | denotes | Coats' disease |
| T4 | 187-224 | DiseaseClass:D058456 | denotes | abnormal retinal vascular development |
| T5 | 237-259 | SpecificDisease:D058456 | denotes | retinal telangiectasis |
| T6 | 287-333 | CompositeMention:D006949 | denotes | intraretinal and subretinal lipid accumulation |
| T7 | 335-363 | DiseaseClass:D012163 | denotes | exudative retinal detachment |
| T8 | 388-402 | SpecificDisease:D058456 | denotes | Coats' disease |
| T9 | 502-516 | SpecificDisease:D058456 | denotes | Coats' disease |
| T10 | 549-563 | SpecificDisease:C537849 | denotes | Norrie disease |
| T11 | 717-731 | SpecificDisease:D058456 | denotes | Coats' disease |
| T12 | 852-873 | SpecificDisease:D058456 | denotes | Coats' telangiectasis |
| T13 | 942-962 | DiseaseClass:C537849 | denotes | deficiency of norrin |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 99-102 | gene:4693 | denotes | NDP |
| T1 | 41-63 | disease:C0154832 | denotes | retinal telangiectasis |
| R1 | T0 | T1 | associated_with | NDP,retinal telangiectasis |
NCBI-Disease-Train
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T1780 | 0-14 | SpecificDisease | denotes | Coats' disease | D058456 |
| T1781 | 30-63 | SpecificDisease | denotes | unilateral retinal telangiectasis | D058456 |
| T1782 | 152-166 | SpecificDisease | denotes | Coats' disease | D058456 |
| T1783 | 187-224 | DiseaseClass | denotes | abnormal retinal vascular development | D058456 |
| T1784 | 237-259 | SpecificDisease | denotes | retinal telangiectasis | D058456 |
| T1785 | 287-333 | CompositeMention | denotes | intraretinal and subretinal lipid accumulation | D006949 |
| T1786 | 335-363 | DiseaseClass | denotes | exudative retinal detachment | D012163 |
| T1787 | 388-402 | SpecificDisease | denotes | Coats' disease | D058456 |
| T1788 | 502-516 | SpecificDisease | denotes | Coats' disease | D058456 |
| T1789 | 549-563 | SpecificDisease | denotes | Norrie disease | C537849 |
| T1790 | 717-731 | SpecificDisease | denotes | Coats' disease | D058456 |
| T1791 | 852-873 | SpecificDisease | denotes | Coats' telangiectasis | D058456 |
| T1792 | 942-962 | DiseaseClass | denotes | deficiency of norrin | C537849 |
NCBI-Disease-Corpus-All
| Id | Subject | Object | Predicate | Lexical cue | database_id |
|---|---|---|---|---|---|
| T1780 | 0-14 | SpecificDisease | denotes | Coats' disease | D058456 |
| T1781 | 30-63 | SpecificDisease | denotes | unilateral retinal telangiectasis | D058456 |
| T1782 | 152-166 | SpecificDisease | denotes | Coats' disease | D058456 |
| T1783 | 187-224 | DiseaseClass | denotes | abnormal retinal vascular development | D058456 |
| T1784 | 237-259 | SpecificDisease | denotes | retinal telangiectasis | D058456 |
| T1785 | 287-333 | CompositeMention | denotes | intraretinal and subretinal lipid accumulation | D006949 |
| T1786 | 335-363 | DiseaseClass | denotes | exudative retinal detachment | D012163 |
| T1787 | 388-402 | SpecificDisease | denotes | Coats' disease | D058456 |
| T1788 | 502-516 | SpecificDisease | denotes | Coats' disease | D058456 |
| T1789 | 549-563 | SpecificDisease | denotes | Norrie disease | C537849 |
| T1790 | 717-731 | SpecificDisease | denotes | Coats' disease | D058456 |
| T1791 | 852-873 | SpecificDisease | denotes | Coats' telangiectasis | D058456 |
| T1792 | 942-962 | DiseaseClass | denotes | deficiency of norrin | C537849 |
NCBI-Disease-Corpus-2stage-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 7-14 | SpecificDisease | denotes | disease |
| T2 | 49-63 | DiseaseClass | denotes | telangiectasis |
| T3 | 159-166 | SpecificDisease | denotes | disease |
| T4 | 245-259 | DiseaseClass | denotes | telangiectasis |
| T5 | 395-402 | SpecificDisease | denotes | disease |
| T6 | 509-516 | SpecificDisease | denotes | disease |
| T7 | 549-563 | SpecificDisease | denotes | Norrie disease |
| T8 | 724-731 | SpecificDisease | denotes | disease |
| T9 | 859-873 | DiseaseClass | denotes | telangiectasis |
NCBI-Disease-Corpus-rezarta-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-14 | SpecificDisease | denotes | Coats' disease |
| T2 | 152-166 | SpecificDisease | denotes | Coats' disease |
| T3 | 388-402 | SpecificDisease | denotes | Coats' disease |
| T4 | 502-516 | SpecificDisease | denotes | Coats' disease |
| T5 | 549-563 | SpecificDisease | denotes | Norrie disease |
| T6 | 717-731 | SpecificDisease | denotes | Coats' disease |
| T7 | 852-873 | SpecificDisease | denotes | Coats' telangiectasis |
NCBI-Disease-Corpus-4oGuideline-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 7-14 | SpecificDisease | denotes | disease |
| T2 | 22-28 | Modifier | denotes | retina |
| T3 | 41-63 | SpecificDisease | denotes | retinal telangiectasis |
| T4 | 152-166 | SpecificDisease | denotes | Coats' disease |
| T5 | 237-259 | SpecificDisease | denotes | retinal telangiectasis |
| T6 | 345-363 | SpecificDisease | denotes | retinal detachment |
| T7 | 388-402 | SpecificDisease | denotes | Coats' disease |
| T8 | 502-516 | SpecificDisease | denotes | Coats' disease |
| T9 | 549-563 | SpecificDisease | denotes | Norrie disease |
| T10 | 717-731 | SpecificDisease | denotes | Coats' disease |
| T11 | 852-873 | SpecificDisease | denotes | Coats' telangiectasis |
NCBI-Disease-Corpus-Simple-All
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 0-14 | SpecificDisease | denotes | Coats' disease |
| T2 | 49-63 | Modifier | denotes | telangiectasis |
| T3 | 152-166 | SpecificDisease | denotes | Coats' disease |
| T4 | 245-259 | Modifier | denotes | telangiectasis |
| T5 | 335-363 | Modifier | denotes | exudative retinal detachment |
| T6 | 388-402 | SpecificDisease | denotes | Coats' disease |
| T7 | 502-516 | SpecificDisease | denotes | Coats' disease |
| T8 | 549-563 | SpecificDisease | denotes | Norrie disease |
| T9 | 717-731 | SpecificDisease | denotes | Coats' disease |
| T10 | 852-873 | CompositeMention | denotes | Coats' telangiectasis |