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PubMed:25012610 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-88 Sentence denotes A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids.
TextSentencer_T2 89-269 Sentence denotes Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids is a neurodegenerative disease associated with mutations in the colony-stimulating factor 1 receptor gene (CSF1R).
TextSentencer_T3 270-391 Sentence denotes A 44-year-old woman with a 7-year history of depression presented with neurological signs and a recent cognitive decline.
TextSentencer_T4 392-598 Sentence denotes The diagnosis of hereditary diffuse leukoencephalopathy with neuroaxonal spheroids was suspected based on the findings of a predominant frontal leukoencephalopathy and neuroaxonal spheroids on brain biopsy.
TextSentencer_T5 599-689 Sentence denotes She shares with her mother a novel CSF1R exon 18 missense mutation (c.2350G > A; p.V784M).
TextSentencer_T6 690-796 Sentence denotes The mother has a long-standing bipolar disorder and mild multifocal white matter abnormalities in her 70s.
TextSentencer_T7 797-933 Sentence denotes This is the first report of hereditary diffuse leukoencephalopathy with neuroaxonal spheroids due to this novel CSF1R missense mutation.
TextSentencer_T8 934-1063 Sentence denotes Our report suggests that either marked intrafamilial variability or incomplete penetrance can be associated with CSF1R mutations.
TextSentencer_T9 1064-1343 Sentence denotes The observation of a small bone cyst in our patient supports the hypothesis that hereditary diffuse leukoencephalopathy with neuroaxonal spheroids and polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy may belong to a spectrum of overlapping phenotypes.
T1 0-88 Sentence denotes A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids.
T2 89-269 Sentence denotes Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids is a neurodegenerative disease associated with mutations in the colony-stimulating factor 1 receptor gene (CSF1R).
T3 270-391 Sentence denotes A 44-year-old woman with a 7-year history of depression presented with neurological signs and a recent cognitive decline.
T4 392-598 Sentence denotes The diagnosis of hereditary diffuse leukoencephalopathy with neuroaxonal spheroids was suspected based on the findings of a predominant frontal leukoencephalopathy and neuroaxonal spheroids on brain biopsy.
T5 599-689 Sentence denotes She shares with her mother a novel CSF1R exon 18 missense mutation (c.2350G > A; p.V784M).
T6 690-796 Sentence denotes The mother has a long-standing bipolar disorder and mild multifocal white matter abnormalities in her 70s.
T7 797-933 Sentence denotes This is the first report of hereditary diffuse leukoencephalopathy with neuroaxonal spheroids due to this novel CSF1R missense mutation.
T8 934-1063 Sentence denotes Our report suggests that either marked intrafamilial variability or incomplete penetrance can be associated with CSF1R mutations.
T9 1064-1343 Sentence denotes The observation of a small bone cyst in our patient supports the hypothesis that hereditary diffuse leukoencephalopathy with neuroaxonal spheroids and polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy may belong to a spectrum of overlapping phenotypes.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 100-127 HP_0006994 denotes diffuse leukoencephalopathy
T2 108-127 HP_0002352 denotes leukoencephalopathy
T3 315-325 HP_0000716 denotes depression
T4 373-390 HP_0001268 denotes cognitive decline
T5 420-447 HP_0006994 denotes diffuse leukoencephalopathy
T6 428-447 HP_0002352 denotes leukoencephalopathy
T7 536-555 HP_0002352 denotes leukoencephalopathy
T8 721-737 HP_0007302 denotes bipolar disorder
T9 758-784 HP_0002500 denotes white matter abnormalities
T10 836-863 HP_0006994 denotes diffuse leukoencephalopathy
T11 844-863 HP_0002352 denotes leukoencephalopathy
T12 1091-1100 HP_0012062 denotes bone cyst
T13 1156-1183 HP_0006994 denotes diffuse leukoencephalopathy
T14 1164-1183 HP_0002352 denotes leukoencephalopathy
T15 1272-1291 HP_0002352 denotes leukoencephalopathy

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
25012610-0#24#29#gene1436 24-29 gene1436 denotes CSF1R
25012610-0#53#72#diseaseC0270612 53-72 diseaseC0270612 denotes leukoencephalopathy
25012610-1#130#166#gene1436 219-255 gene1436 denotes colony-stimulating factor 1 receptor
25012610-1#173#178#gene1436 262-267 gene1436 denotes CSF1R
25012610-1#71#96#diseaseC0524851 160-185 diseaseC0524851 denotes neurodegenerative disease
24#29#gene143653#72#diseaseC0270612 25012610-0#24#29#gene1436 25012610-0#53#72#diseaseC0270612 associated_with CSF1R,leukoencephalopathy
130#166#gene143671#96#diseaseC0524851 25012610-1#130#166#gene1436 25012610-1#71#96#diseaseC0524851 associated_with colony-stimulating factor 1 receptor,neurodegenerative disease
173#178#gene143671#96#diseaseC0524851 25012610-1#173#178#gene1436 25012610-1#71#96#diseaseC0524851 associated_with CSF1R,neurodegenerative disease

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 100-127 HP:0006994 denotes diffuse leukoencephalopathy
TI1 53-72 HP:0002352 denotes leukoencephalopathy
AB2 315-325 HP:0000716 denotes depression
AB3 420-447 HP:0006994 denotes diffuse leukoencephalopathy
AB4 536-555 HP:0002352 denotes leukoencephalopathy
AB5 836-863 HP:0006994 denotes diffuse leukoencephalopathy
AB6 1091-1100 HP:0012062 denotes bone cyst
AB7 1156-1183 HP:0006994 denotes diffuse leukoencephalopathy
AB8 1272-1291 HP:0002352 denotes leukoencephalopathy

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 1215-1291 ORDO:2770 denotes polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 585-590 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T2 758-770 http://purl.obolibrary.org/obo/UBERON_0002316 denotes white matter

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 585-590 http://purl.obolibrary.org/obo/UBERON_0000955 denotes brain
PD-UBERON-AE-B_T2 758-770 http://purl.obolibrary.org/obo/UBERON_0002316 denotes white matter