> top > docs > PubMed:20558831 > annotations

PubMed:20558831 JSONTXT

Annnotations TAB JSON ListView MergeView

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-92 Sentence denotes COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review.
TextSentencer_T2 93-116 Sentence denotes BACKGROUND AND PURPOSE:
TextSentencer_T3 117-191 Sentence denotes A number of single gene disorders can cause cerebral small vessel disease.
TextSentencer_T4 192-453 Sentence denotes Mutations in the COL4A1 gene encoding the type IV collagen alpha 1 chain, which are already associated with porencephaly and infantile hemiparesis, have been recently recognized as a further monogenic cause of small vessel disease that can present in adulthood.
TextSentencer_T5 454-462 Sentence denotes METHODS:
TextSentencer_T6 463-623 Sentence denotes We performed a systematic review of published data from 1966 to January 8, 2010 to characterize the features of small vessel disease seen with COL4A1 mutations.
TextSentencer_T7 624-632 Sentence denotes RESULTS:
TextSentencer_T8 633-679 Sentence denotes We identified a total of 52 mutation carriers.
TextSentencer_T9 680-850 Sentence denotes A history of stroke was reported in 9 subjects (17.3%); in 6 cases it was attributable to subcortical hemorrhage and in 3 cases it was attributable to lacunar infarction.
TextSentencer_T10 851-970 Sentence denotes Stroke often occurred as first presentation of the disease, with a mean age of onset of 36.1 (SD, 12.95; range, 14-49).
TextSentencer_T11 971-1082 Sentence denotes Hemorrhages, often recurrent, have been associated with physical trauma and activity and anticoagulant therapy.
TextSentencer_T12 1083-1254 Sentence denotes Brain imaging showed frequent leukoaraiosis (63.5%), microbleeds that are usually subcortical (52.9%), lacunar infarction (13.5%), and dilated perivascular spaces (19.2%).
TextSentencer_T13 1255-1340 Sentence denotes Extensive leukoaraiosis was seen in a number of asymptomatic adult mutation carriers.
TextSentencer_T14 1341-1420 Sentence denotes Asymptomatic intracranial aneurysms were common (44.4% of 18 with angiography).
TextSentencer_T15 1421-1516 Sentence denotes Migraine (with and without aura) was reported in 10 subjects, with a mean age at onset of 31.7.
TextSentencer_T16 1517-1623 Sentence denotes Systemic features are also frequent, affecting the eye (10/21, 47.6%), kidney (15.4%), and muscle (15.4%).
TextSentencer_T17 1624-1828 Sentence denotes CONCLUSIONS: COL4A1 is a further cause of familial vasculopathy and may present with stroke, ischemic as well as hemorrhagic, in adult life and with radiological features of leukoaraiosis and microbleeds.
T1 0-92 Sentence denotes COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review.
T2 93-116 Sentence denotes BACKGROUND AND PURPOSE:
T3 117-191 Sentence denotes A number of single gene disorders can cause cerebral small vessel disease.
T4 192-453 Sentence denotes Mutations in the COL4A1 gene encoding the type IV collagen alpha 1 chain, which are already associated with porencephaly and infantile hemiparesis, have been recently recognized as a further monogenic cause of small vessel disease that can present in adulthood.
T5 454-462 Sentence denotes METHODS:
T6 463-623 Sentence denotes We performed a systematic review of published data from 1966 to January 8, 2010 to characterize the features of small vessel disease seen with COL4A1 mutations.
T7 624-632 Sentence denotes RESULTS:
T8 633-679 Sentence denotes We identified a total of 52 mutation carriers.
T9 680-850 Sentence denotes A history of stroke was reported in 9 subjects (17.3%); in 6 cases it was attributable to subcortical hemorrhage and in 3 cases it was attributable to lacunar infarction.
T10 851-970 Sentence denotes Stroke often occurred as first presentation of the disease, with a mean age of onset of 36.1 (SD, 12.95; range, 14-49).
T11 971-1082 Sentence denotes Hemorrhages, often recurrent, have been associated with physical trauma and activity and anticoagulant therapy.
T12 1083-1254 Sentence denotes Brain imaging showed frequent leukoaraiosis (63.5%), microbleeds that are usually subcortical (52.9%), lacunar infarction (13.5%), and dilated perivascular spaces (19.2%).
T13 1255-1340 Sentence denotes Extensive leukoaraiosis was seen in a number of asymptomatic adult mutation carriers.
T14 1341-1420 Sentence denotes Asymptomatic intracranial aneurysms were common (44.4% of 18 with angiography).
T15 1421-1516 Sentence denotes Migraine (with and without aura) was reported in 10 subjects, with a mean age at onset of 31.7.
T16 1517-1623 Sentence denotes Systemic features are also frequent, affecting the eye (10/21, 47.6%), kidney (15.4%), and muscle (15.4%).
T17 1624-1828 Sentence denotes CONCLUSIONS: COL4A1 is a further cause of familial vasculopathy and may present with stroke, ischemic as well as hemorrhagic, in adult life and with radiological features of leukoaraiosis and microbleeds.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1637-1643 gene:1282 denotes COL4A1
T1 1709-1725 disease:C0948008 denotes stroke, ischemic
R1 T0 T1 associated_with COL4A1,"stroke, ischemic"

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 300-312 HP_0002132 denotes porencephaly
T2 327-338 HP_0001269 denotes hemiparesis

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
20558831-0#0#6#gene1282 0-6 gene1282 denotes COL4A1
20558831-0#41#70#diseaseC2733158 41-70 diseaseC2733158 denotes cerebral small vessel disease
20558831-13#0#6#gene1282 1637-1643 gene1282 denotes COL4A1
20558831-13#72#88#diseaseC0948008 1709-1725 diseaseC0948008 denotes stroke, ischemic
20558831-2#17#23#gene1282 209-215 gene1282 denotes COL4A1
20558831-2#17#23#gene1282 209-215 gene1282 denotes COL4A1
20558831-2#108#120#diseaseC0151860 300-312 diseaseC0151860 denotes porencephaly
20558831-2#108#120#diseaseC0302892 300-312 diseaseC0302892 denotes porencephaly
20558831-2#108#120#diseaseC4082173 300-312 diseaseC4082173 denotes porencephaly
20558831-2#125#146#diseaseC1843512 317-338 diseaseC1843512 denotes infantile hemiparesis
0#6#gene128241#70#diseaseC2733158 20558831-0#0#6#gene1282 20558831-0#41#70#diseaseC2733158 associated_with COL4A1,cerebral small vessel disease
0#6#gene128272#88#diseaseC0948008 20558831-13#0#6#gene1282 20558831-13#72#88#diseaseC0948008 associated_with COL4A1,"stroke, ischemic"
17#23#gene1282108#120#diseaseC0151860 20558831-2#17#23#gene1282 20558831-2#108#120#diseaseC0151860 associated_with COL4A1,porencephaly
17#23#gene1282108#120#diseaseC0302892 20558831-2#17#23#gene1282 20558831-2#108#120#diseaseC0302892 associated_with COL4A1,porencephaly
17#23#gene1282108#120#diseaseC4082173 20558831-2#17#23#gene1282 20558831-2#108#120#diseaseC4082173 associated_with COL4A1,porencephaly
17#23#gene1282125#146#diseaseC1843512 20558831-2#17#23#gene1282 20558831-2#125#146#diseaseC1843512 associated_with COL4A1,infantile hemiparesis
17#23#gene1282108#120#diseaseC0151860 20558831-2#17#23#gene1282 20558831-2#108#120#diseaseC0151860 associated_with COL4A1,porencephaly
17#23#gene1282108#120#diseaseC0302892 20558831-2#17#23#gene1282 20558831-2#108#120#diseaseC0302892 associated_with COL4A1,porencephaly
17#23#gene1282108#120#diseaseC4082173 20558831-2#17#23#gene1282 20558831-2#108#120#diseaseC4082173 associated_with COL4A1,porencephaly
17#23#gene1282125#146#diseaseC1843512 20558831-2#17#23#gene1282 20558831-2#125#146#diseaseC1843512 associated_with COL4A1,infantile hemiparesis

DisGeNet-2017-sample

Id Subject Object Predicate Lexical cue
T2176 209-215 gene:1282 denotes COL4A1
T2177 300-312 disease:C0151860 denotes porencephaly
R1 T2176 T2177 associated_with COL4A1,porencephaly
R2 T2176 T2177 associated_with COL4A1,porencephaly
R3 T2176 T2177 associated_with COL4A1,porencephaly

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 56-62 http://purl.obolibrary.org/obo/UBERON_0000055 denotes vessel
PD-UBERON-AE-B_T2 176-182 http://purl.obolibrary.org/obo/UBERON_0000055 denotes vessel
PD-UBERON-AE-B_T3 408-414 http://purl.obolibrary.org/obo/UBERON_0000055 denotes vessel
PD-UBERON-AE-B_T4 581-587 http://purl.obolibrary.org/obo/UBERON_0000055 denotes vessel
PD-UBERON-AE-B_T5 1226-1245 http://purl.obolibrary.org/obo/UBERON_0014930 denotes perivascular spaces
PD-UBERON-AE-B_T6 1568-1571 http://purl.obolibrary.org/obo/UBERON_0000970 denotes eye
PD-UBERON-AE-B_T7 1588-1594 http://purl.obolibrary.org/obo/UBERON_0002113 denotes kidney

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1588-1594 http://purl.obolibrary.org/obo/UBERON_0002113 denotes kidney
PD-UBERON-AE-B_T2 1083-1088 http://purl.obolibrary.org/obo/UBERON_0000955 denotes Brain
PD-UBERON-AE-B_T3 56-62 http://purl.obolibrary.org/obo/UBERON_0000055 denotes vessel
PD-UBERON-AE-B_T4 176-182 http://purl.obolibrary.org/obo/UBERON_0000055 denotes vessel
PD-UBERON-AE-B_T5 408-414 http://purl.obolibrary.org/obo/UBERON_0000055 denotes vessel
PD-UBERON-AE-B_T6 581-587 http://purl.obolibrary.org/obo/UBERON_0000055 denotes vessel
PD-UBERON-AE-B_T7 1226-1245 http://purl.obolibrary.org/obo/UBERON_0014930 denotes perivascular spaces
PD-UBERON-AE-B_T8 1255-1264 http://purl.obolibrary.org/obo/UBERON_2000106 denotes Extensive
PD-UBERON-AE-B_T9 1568-1571 http://purl.obolibrary.org/obo/UBERON_0000970 denotes eye