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PubMed:19037252 JSON TXT

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LitCoin-sentences

Id	Subject	Object	Predicate	Lexical cue
T1	0-95	Sentence	denotes	Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis.
T2	96-185	Sentence	denotes	Diffuse mesangial sclerosis occurs as an isolated abnormality or as a part of a syndrome.
T3	186-320	Sentence	denotes	Recently, mutations in phospholipase C epsilon 1 (PLCE1) were found to cause a nonsyndromic, autosomal recessive form of this disease.
T4	321-500	Sentence	denotes	Here we describe three children from one consanguineous kindred of Pakistani origin with diffuse mesangial sclerosis who presented with congenital or infantile nephrotic syndrome.
T5	501-653	Sentence	denotes	Homozygous mutations in PLCE1 (also known as KIAA1516, PLCE, or NPHS3) were identified following genome-wide mapping of single-nucleotide polymorphisms.
T6	654-783	Sentence	denotes	All affected children were homozygous for a four-basepair deletion in exon 3, which created a premature translational stop codon.
T7	784-902	Sentence	denotes	Analysis of the asymptomatic father of two of the children revealed that he was also homozygous for the same mutation.
T8	903-1082	Sentence	denotes	We conclude this nonpenetrance may be due to compensatory mutations at a second locus and that mutation within PLCE1 is not always sufficient to cause diffuse mesangial sclerosis.

LitCoin-entities-OrganismTaxon-PD

Id	Subject	Object	Predicate	Lexical cue	db_id
T1	777-782	OrganismTaxon	denotes	codon	NCBItxid:79338

LitCoin-entities

Id	Subject	Object	Predicate	Lexical cue	db_id
5537	13-38	GeneOrGeneProduct	denotes	phospholipase C epsilon 1	NCBIGene:51196
5538	67-94	DiseaseOrPhenotypicFeature	denotes	diffuse mesangial sclerosis	MESH:C537346
5539	96-123	DiseaseOrPhenotypicFeature	denotes	Diffuse mesangial sclerosis	MESH:C537346
5540	209-234	GeneOrGeneProduct	denotes	phospholipase C epsilon 1	NCBIGene:51196
5541	236-241	GeneOrGeneProduct	denotes	PLCE1	NCBIGene:51196
5542	410-437	DiseaseOrPhenotypicFeature	denotes	diffuse mesangial sclerosis	MESH:C537346
5543	457-499	DiseaseOrPhenotypicFeature	denotes	congenital or infantile nephrotic syndrome	MESH:C535761
5544	525-530	GeneOrGeneProduct	denotes	PLCE1	NCBIGene:51196
5545	546-554	GeneOrGeneProduct	denotes	KIAA1516	NCBIGene:51196
5546	556-560	GeneOrGeneProduct	denotes	PLCE	NCBIGene:51196
5547	565-570	GeneOrGeneProduct	denotes	NPHS3	NCBIGene:51196
5548	698-720	SequenceVariant	denotes	four-basepair deletion	c\|DEL\|\|4
5549	1014-1019	GeneOrGeneProduct	denotes	PLCE1	NCBIGene:51196
5550	1054-1081	DiseaseOrPhenotypicFeature	denotes	diffuse mesangial sclerosis	MESH:C537346

LitCoin_Mondo

Id	Subject	Object	Predicate	Lexical cue	mondo_id
T1	457-467	DiseaseOrPhenotypicFeature	denotes	congenital	0021140
T2	481-499	DiseaseOrPhenotypicFeature	denotes	nephrotic syndrome	0005377

LitCoin-GeneOrGeneProduct-v0

Id	Subject	Object	Predicate	Lexical cue
T1	0-9	GeneOrGeneProduct	denotes	Mutations
T2	13-38	GeneOrGeneProduct	denotes	phospholipase C epsilon 1
T3	164-170	GeneOrGeneProduct	denotes	a part
T4	176-184	GeneOrGeneProduct	denotes	syndrome
T5	196-205	GeneOrGeneProduct	denotes	mutations
T6	209-234	GeneOrGeneProduct	denotes	phospholipase C epsilon 1
T7	236-241	GeneOrGeneProduct	denotes	PLCE1
T8	491-499	GeneOrGeneProduct	denotes	syndrome
T9	512-521	GeneOrGeneProduct	denotes	mutations
T10	525-530	GeneOrGeneProduct	denotes	PLCE1
T11	556-560	GeneOrGeneProduct	denotes	PLCE
T12	565-570	GeneOrGeneProduct	denotes	NPHS3
T13	654-657	GeneOrGeneProduct	denotes	All
T14	738-745	GeneOrGeneProduct	denotes	created
T15	772-776	GeneOrGeneProduct	denotes	stop
T16	893-901	GeneOrGeneProduct	denotes	mutation
T17	961-970	GeneOrGeneProduct	denotes	mutations
T18	993-1006	GeneOrGeneProduct	denotes	that mutation
T19	1014-1019	GeneOrGeneProduct	denotes	PLCE1

LitCoin-GeneOrGeneProduct-v2

Id	Subject	Object	Predicate	Lexical cue
T1	13-38	GeneOrGeneProduct	denotes	phospholipase C epsilon 1
T2	164-170	GeneOrGeneProduct	denotes	a part
T3	176-184	GeneOrGeneProduct	denotes	syndrome
T4	209-234	GeneOrGeneProduct	denotes	phospholipase C epsilon 1
T5	236-241	GeneOrGeneProduct	denotes	PLCE1
T6	491-499	GeneOrGeneProduct	denotes	syndrome
T7	525-530	GeneOrGeneProduct	denotes	PLCE1
T8	556-560	GeneOrGeneProduct	denotes	PLCE
T9	565-570	GeneOrGeneProduct	denotes	NPHS3
T10	772-776	GeneOrGeneProduct	denotes	stop
T11	1014-1019	GeneOrGeneProduct	denotes	PLCE1

LitCoin-Disease-MeSH

Id	Subject	Object	Predicate	Lexical cue	originalLabel
T1	67-94	DiseaseOrPhenotypicFeature	denotes	diffuse mesangial sclerosis	C537346
T2	96-123	DiseaseOrPhenotypicFeature	denotes	Diffuse mesangial sclerosis	C537346
T3	176-184	DiseaseOrPhenotypicFeature	denotes	syndrome	D013577
T4	312-319	DiseaseOrPhenotypicFeature	denotes	disease	D004194
T5	410-437	DiseaseOrPhenotypicFeature	denotes	diffuse mesangial sclerosis	C537346
T6	481-499	DiseaseOrPhenotypicFeature	denotes	nephrotic syndrome	D009404
T7	565-570	DiseaseOrPhenotypicFeature	denotes	NPHS3	C535761
T8	1054-1081	DiseaseOrPhenotypicFeature	denotes	diffuse mesangial sclerosis	C537346

LitCoin-GeneOrGeneProduct-v3

Id	Subject	Object	Predicate	Lexical cue
T1	13-38	GeneOrGeneProduct	denotes	phospholipase C epsilon 1
T2	209-234	GeneOrGeneProduct	denotes	phospholipase C epsilon 1
T3	236-241	GeneOrGeneProduct	denotes	PLCE1
T4	525-530	GeneOrGeneProduct	denotes	PLCE1
T5	556-560	GeneOrGeneProduct	denotes	PLCE
T6	565-570	GeneOrGeneProduct	denotes	NPHS3
T7	1014-1019	GeneOrGeneProduct	denotes	PLCE1

LitCoin_Mondo_095

Id	Subject	Object	Predicate	Lexical cue	mondo_id
T1	67-94	DiseaseOrPhenotypicFeature	denotes	diffuse mesangial sclerosis	0009733
T2	96-123	DiseaseOrPhenotypicFeature	denotes	Diffuse mesangial sclerosis	0009733
T3	176-184	DiseaseOrPhenotypicFeature	denotes	syndrome	0002254
T4	410-437	DiseaseOrPhenotypicFeature	denotes	diffuse mesangial sclerosis	0009733
T5	481-499	DiseaseOrPhenotypicFeature	denotes	nephrotic syndrome	0005377
T6	565-570	DiseaseOrPhenotypicFeature	denotes	NPHS3	0012546
T7	857-859	DiseaseOrPhenotypicFeature	denotes	he	0017319
T8	1054-1081	DiseaseOrPhenotypicFeature	denotes	diffuse mesangial sclerosis	0009733

LitCoin-MeSH-Disease-2

Id	Subject	Object	Predicate	Lexical cue	ID:
T1	67-94	DiseaseOrPhenotypicFeature	denotes	diffuse mesangial sclerosis	C537346
T2	96-123	DiseaseOrPhenotypicFeature	denotes	Diffuse mesangial sclerosis	C537346
T3	176-184	DiseaseOrPhenotypicFeature	denotes	syndrome	D013577
T4	312-319	DiseaseOrPhenotypicFeature	denotes	disease	D004194
T5	410-437	DiseaseOrPhenotypicFeature	denotes	diffuse mesangial sclerosis	C537346
T6	457-499	DiseaseOrPhenotypicFeature	denotes	congenital or infantile nephrotic syndrome	DISEASE
T7	1054-1081	DiseaseOrPhenotypicFeature	denotes	diffuse mesangial sclerosis	C537346

LitCoin-MONDO_bioort2019

Id	Subject	Object	Predicate	Lexical cue	#label
T1	67-94	DiseaseOrPhenotypicFeature	denotes	diffuse mesangial sclerosis	C537346
T2	96-123	DiseaseOrPhenotypicFeature	denotes	Diffuse mesangial sclerosis	C537346
T3	410-437	DiseaseOrPhenotypicFeature	denotes	diffuse mesangial sclerosis	C537346
T4	457-499	DiseaseOrPhenotypicFeature	denotes	congenital or infantile nephrotic syndrome	DISEASE
T5	1054-1081	DiseaseOrPhenotypicFeature	denotes	diffuse mesangial sclerosis	C537346

LitCoin-Chemical-MeSH-CHEBI

Id	Subject	Object	Predicate	Lexical cue	ID:
T1	13-28	ChemicalEntity	denotes	phospholipase C	D010738
T2	209-224	ChemicalEntity	denotes	phospholipase C	D010738

LitCoin-training-merged

Id	Subject	Object	Predicate	Lexical cue	#label	ID:
T2	209-224	ChemicalEntity	denotes	phospholipase C		D010738
T1	13-28	ChemicalEntity	denotes	phospholipase C		D010738
T7	1014-1019	GeneOrGeneProduct	denotes	PLCE1
T6	565-570	GeneOrGeneProduct	denotes	NPHS3
T5	556-560	GeneOrGeneProduct	denotes	PLCE
T4	525-530	GeneOrGeneProduct	denotes	PLCE1
T3	236-241	GeneOrGeneProduct	denotes	PLCE1
T8056	209-234	GeneOrGeneProduct	denotes	phospholipase C epsilon 1
T23643	13-38	GeneOrGeneProduct	denotes	phospholipase C epsilon 1
T17728	1054-1081	DiseaseOrPhenotypicFeature	denotes	diffuse mesangial sclerosis	C537346
T64916	457-499	DiseaseOrPhenotypicFeature	denotes	congenital or infantile nephrotic syndrome	DISEASE
T54746	410-437	DiseaseOrPhenotypicFeature	denotes	diffuse mesangial sclerosis	C537346
T53175	96-123	DiseaseOrPhenotypicFeature	denotes	Diffuse mesangial sclerosis	C537346
T28018	67-94	DiseaseOrPhenotypicFeature	denotes	diffuse mesangial sclerosis	C537346

DisGeNET

Id	Subject	Object	Predicate	Lexical cue
T0	1014-1019	gene:51196	denotes	PLCE1
T1	1054-1081	disease:C0268747	denotes	diffuse mesangial sclerosis
R1	T0	T1	associated_with	PLCE1,diffuse mesangial sclerosis

DisGeNET5_gene_disease

Id	Subject	Object	Predicate	Lexical cue
19037252-0#13#38#gene51196	13-38	gene51196	denotes	phospholipase C epsilon 1
19037252-0#67#94#diseaseC0268747	67-94	diseaseC0268747	denotes	diffuse mesangial sclerosis
13#38#gene5119667#94#diseaseC0268747	19037252-0#13#38#gene51196	19037252-0#67#94#diseaseC0268747	associated_with	phospholipase C epsilon 1,diffuse mesangial sclerosis

PubCasesHPO

Id	Subject	Object	Predicate	Lexical cue
AB1	96-123	HP:0001967	denotes	Diffuse mesangial sclerosis
TI1	67-94	HP:0001967	denotes	diffuse mesangial sclerosis
AB2	410-437	HP:0001967	denotes	diffuse mesangial sclerosis
AB3	481-499	HP:0000100	denotes	nephrotic syndrome
AB4	1054-1081	HP:0001967	denotes	diffuse mesangial sclerosis