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PubMed:18975016 JSONTXT

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PMID_GLOBAL

Id Subject Object Predicate Lexical cue mondo_id
T1 31-36 DiseaseOrPhenotypicFeature denotes NPHS3 0012546
T2 94-98 DiseaseOrPhenotypicFeature denotes FSGS 0005363
T3 100-138 DiseaseOrPhenotypicFeature denotes Focal and segmental glomerulosclerosis 0005363
T4 140-144 DiseaseOrPhenotypicFeature denotes FSGS 0005363
T5 185-209 DiseaseOrPhenotypicFeature denotes end-stage kidney disease 0004375
T6 211-215 DiseaseOrPhenotypicFeature denotes ESKD 0004375
T7 243-247 DiseaseOrPhenotypicFeature denotes FSGS 0005363
T8 342-361 DiseaseOrPhenotypicFeature denotes nephrotic syndromes 0005377
T9 459-464 DiseaseOrPhenotypicFeature denotes NPHS3 0012546
T10 507-525 DiseaseOrPhenotypicFeature denotes nephrotic syndrome 0005377
T11 543-570 DiseaseOrPhenotypicFeature denotes diffuse mesangial sclerosis 0009733
T12 572-575 DiseaseOrPhenotypicFeature denotes DMS 0009733
T13 687-691 DiseaseOrPhenotypicFeature denotes FSGS 0005363
T14 758-762 DiseaseOrPhenotypicFeature denotes FSGS 0005363
T15 817-821 DiseaseOrPhenotypicFeature denotes FSGS 0005363
T16 965-969 DiseaseOrPhenotypicFeature denotes ESKD 0004375
T17 1237-1242 DiseaseOrPhenotypicFeature denotes NPHS3 0012546
T18 1272-1276 DiseaseOrPhenotypicFeature denotes FSGS 0005363
T19 1327-1332 DiseaseOrPhenotypicFeature denotes NPHS3 0012546
T20 1401-1405 DiseaseOrPhenotypicFeature denotes FSGS 0005363
T21 1426-1430 DiseaseOrPhenotypicFeature denotes FSGS 0005363
T22 1600-1604 DiseaseOrPhenotypicFeature denotes FSGS 0005363

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-99 Sentence denotes Exclusion of homozygous PLCE1 (NPHS3) mutations in 69 families with idiopathic and hereditary FSGS.
TextSentencer_T2 100-217 Sentence denotes Focal and segmental glomerulosclerosis (FSGS) is the most common glomerular cause of end-stage kidney disease (ESKD).
TextSentencer_T3 218-439 Sentence denotes Although the etiology of FSGS has not been fully elucidated, recent results from the positional cloning of genes mutated in nephrotic syndromes are now beginning to provide insight into the pathogenesis of these diseases.
TextSentencer_T4 440-587 Sentence denotes Mutations in PLCE1/NPHS3 have recently been reported as a cause of nephrotic syndrome characterized by diffuse mesangial sclerosis (DMS) histology.
TextSentencer_T5 588-692 Sentence denotes One single family with a missense mutation had late onset of the disease that was characterized by FSGS.
TextSentencer_T6 693-822 Sentence denotes To further define the role of PLCE1 mutations in the etiology of FSGS, we performed mutational analysis in 69 families with FSGS.
TextSentencer_T7 823-890 Sentence denotes A total of 69 families with 231 affected individuals were examined.
TextSentencer_T8 891-955 Sentence denotes The median age of disease onset was 26 years (range 1-66 years).
TextSentencer_T9 956-1004 Sentence denotes Onset of ESKD was at a median age of 35.5 years.
TextSentencer_T10 1005-1153 Sentence denotes Seven variants leading to non-synonymous changes were found, of which only two are new variants (exon 4 c.1682 G>A R561Q, exon 31 c.6518A>G K2173R).
TextSentencer_T11 1154-1230 Sentence denotes No known disease-causing mutations were identified in the families screened.
TextSentencer_T12 1231-1292 Sentence denotes PLCE1/NPHS3 mutations are not a cause of FSGS in this cohort.
TextSentencer_T13 1293-1458 Sentence denotes The absence of mutations in PLCE1/NPHS3 in this study indicates that there are additional genetic causes of FSGS and that hereditary FSGS is a heterogeneous disease.
TextSentencer_T14 1459-1605 Sentence denotes Kindreds appropriate for genome-wide screening are currently being subjected to analysis with the aim of identifying other genetic causes of FSGS.
T1 0-99 Sentence denotes Exclusion of homozygous PLCE1 (NPHS3) mutations in 69 families with idiopathic and hereditary FSGS.
T2 100-217 Sentence denotes Focal and segmental glomerulosclerosis (FSGS) is the most common glomerular cause of end-stage kidney disease (ESKD).
T3 218-439 Sentence denotes Although the etiology of FSGS has not been fully elucidated, recent results from the positional cloning of genes mutated in nephrotic syndromes are now beginning to provide insight into the pathogenesis of these diseases.
T4 440-587 Sentence denotes Mutations in PLCE1/NPHS3 have recently been reported as a cause of nephrotic syndrome characterized by diffuse mesangial sclerosis (DMS) histology.
T5 588-692 Sentence denotes One single family with a missense mutation had late onset of the disease that was characterized by FSGS.
T6 693-822 Sentence denotes To further define the role of PLCE1 mutations in the etiology of FSGS, we performed mutational analysis in 69 families with FSGS.
T7 823-890 Sentence denotes A total of 69 families with 231 affected individuals were examined.
T8 891-955 Sentence denotes The median age of disease onset was 26 years (range 1-66 years).
T9 956-1004 Sentence denotes Onset of ESKD was at a median age of 35.5 years.
T10 1005-1153 Sentence denotes Seven variants leading to non-synonymous changes were found, of which only two are new variants (exon 4 c.1682 G>A R561Q, exon 31 c.6518A>G K2173R).
T11 1154-1230 Sentence denotes No known disease-causing mutations were identified in the families screened.
T12 1231-1292 Sentence denotes PLCE1/NPHS3 mutations are not a cause of FSGS in this cohort.
T13 1293-1458 Sentence denotes The absence of mutations in PLCE1/NPHS3 in this study indicates that there are additional genetic causes of FSGS and that hereditary FSGS is a heterogeneous disease.
T14 1459-1605 Sentence denotes Kindreds appropriate for genome-wide screening are currently being subjected to analysis with the aim of identifying other genetic causes of FSGS.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1231-1236 gene:51196 denotes PLCE1
T1 1272-1276 disease:C0017668 denotes FSGS
T2 1237-1242 gene:51196 denotes NPHS3
T3 1272-1276 disease:C0017668 denotes FSGS
R1 T0 T1 associated_with PLCE1,FSGS
R2 T2 T3 associated_with NPHS3,FSGS

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
18975016-0#24#29#gene51196 24-29 gene51196 denotes PLCE1
18975016-0#31#36#gene51196 31-36 gene51196 denotes NPHS3
18975016-0#94#98#diseaseC0017668 94-98 diseaseC0017668 denotes FSGS
18975016-3#19#24#gene51196 459-464 gene51196 denotes NPHS3
18975016-3#67#85#diseaseC0027726 507-525 diseaseC0027726 denotes nephrotic syndrome
18975016-3#103#130#diseaseC0268747 543-570 diseaseC0268747 denotes diffuse mesangial sclerosis
18975016-3#132#135#diseaseC0268747 572-575 diseaseC0268747 denotes DMS
24#29#gene5119694#98#diseaseC0017668 18975016-0#24#29#gene51196 18975016-0#94#98#diseaseC0017668 associated_with PLCE1,FSGS
31#36#gene5119694#98#diseaseC0017668 18975016-0#31#36#gene51196 18975016-0#94#98#diseaseC0017668 associated_with NPHS3,FSGS
19#24#gene5119667#85#diseaseC0027726 18975016-3#19#24#gene51196 18975016-3#67#85#diseaseC0027726 associated_with NPHS3,nephrotic syndrome
19#24#gene51196103#130#diseaseC0268747 18975016-3#19#24#gene51196 18975016-3#103#130#diseaseC0268747 associated_with NPHS3,diffuse mesangial sclerosis
19#24#gene51196132#135#diseaseC0268747 18975016-3#19#24#gene51196 18975016-3#132#135#diseaseC0268747 associated_with NPHS3,DMS

DisGeNet-2017-sample

Id Subject Object Predicate Lexical cue
T1600 24-29 gene:51196 denotes PLCE1
T1601 94-98 disease:C0017668 denotes FSGS
T1602 31-36 gene:51196 denotes NPHS3
R1 T1600 T1601 associated_with PLCE1,FSGS
R2 T1602 T1601 associated_with NPHS3,FSGS

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 195-201 http://purl.obolibrary.org/obo/UBERON_0002113 denotes kidney

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 195-201 http://purl.obolibrary.org/obo/UBERON_0002113 denotes kidney