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PubMed:15459975 JSONTXT

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LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
1067 52-56 GeneOrGeneProduct denotes SSH1 NCBIGene:54434
1068 60-106 DiseaseOrPhenotypicFeature denotes disseminated superficial actinic porokeratosis MESH:D017499
1069 108-154 DiseaseOrPhenotypicFeature denotes Disseminated superficial actinic porokeratosis MESH:D017499
1070 156-160 DiseaseOrPhenotypicFeature denotes DSAP MESH:D017499
1071 204-227 DiseaseOrPhenotypicFeature denotes keratinization disorder MESH:D007642
1072 267-284 DiseaseOrPhenotypicFeature denotes keratotic lesions MESH:D007642
1073 367-371 DiseaseOrPhenotypicFeature denotes DSAP MESH:D017499
1074 734-744 SequenceVariant denotes p.Ser63Asn p|SUB|S|63|N
1075 748-752 GeneOrGeneProduct denotes SSH1 NCBIGene:54434
1076 791-806 SequenceVariant denotes p.Ser19CysfsX24 p|FS|S|19|C|24
1077 848-852 GeneOrGeneProduct denotes SSH1 NCBIGene:54434
1078 899-914 SequenceVariant denotes p.Pro27ProfsX54 p|FS|P|63|P|54
1079 977-981 DiseaseOrPhenotypicFeature denotes DSAP MESH:D017499
1080 983-987 GeneOrGeneProduct denotes SSH1 NCBIGene:54434
1081 1173-1177 DiseaseOrPhenotypicFeature denotes DSAP MESH:D017499

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-107 Sentence denotes Fine mapping and identification of a candidate gene SSH1 in disseminated superficial actinic porokeratosis.
T2 108-334 Sentence denotes Disseminated superficial actinic porokeratosis (DSAP) is an uncommon autosomal dominant chronic keratinization disorder, characterized by multiple superficial keratotic lesions surrounded by a slightly raised keratotic border.
T3 335-475 Sentence denotes Thus far, although two loci for DSAP have been identified, the genetic basis and pathogenesis of this disorder have not been elucidated yet.
T4 476-663 Sentence denotes In this study, we performed a genome-wide linkage analysis in three Chinese affected families and localized the gene in an 8.0 cM interval defined by D12S330 and D12S354 on chromosome 12.
T5 664-982 Sentence denotes Upon screening 30 candidate genes, we identified a missense mutation, p.Ser63Asn in SSH1 in one family, a frameshift mutation, p.Ser19CysfsX24 in an alternative variant (isoform f) of SSH1 in another family, and a frameshift mutation, p.Pro27ProfsX54 in the same alternative variant in one non-familial case with DSAP.
T6 983-1054 Sentence denotes SSH1 encodes a phosphatase that plays a pivotal role in actin dynamics.
T7 1055-1178 Sentence denotes Our data suggested that cytoskeleton disorganization in epidermal cells is likely associated with the pathogenesis of DSAP.

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 60-106 DiseaseOrPhenotypicFeature denotes disseminated superficial actinic porokeratosis 0019212
T2 60-72 DiseaseOrPhenotypicFeature denotes disseminated 0022202
T3 93-106 DiseaseOrPhenotypicFeature denotes porokeratosis 0006602
T4 108-154 DiseaseOrPhenotypicFeature denotes Disseminated superficial actinic porokeratosis 0019212
T5 141-154 DiseaseOrPhenotypicFeature denotes porokeratosis 0006602

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 734-744 SequenceVariant denotes p.Ser63Asn
T2 791-806 SequenceVariant denotes p.Ser19CysfsX24
T3 899-914 SequenceVariant denotes p.Pro27ProfsX54

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 52-56 GeneOrGeneProduct denotes SSH1
T2 85-92 GeneOrGeneProduct denotes actinic
T3 133-140 GeneOrGeneProduct denotes actinic
T4 204-218 GeneOrGeneProduct denotes keratinization
T5 246-254 GeneOrGeneProduct denotes multiple
T6 277-284 GeneOrGeneProduct denotes lesions
T7 301-309 GeneOrGeneProduct denotes slightly
T8 310-316 GeneOrGeneProduct denotes raised
T9 327-333 GeneOrGeneProduct denotes border
T10 406-411 GeneOrGeneProduct denotes basis
T11 715-723 GeneOrGeneProduct denotes missense
T12 724-732 GeneOrGeneProduct denotes mutation
T13 748-752 GeneOrGeneProduct denotes SSH1
T14 781-789 GeneOrGeneProduct denotes mutation
T15 848-852 GeneOrGeneProduct denotes SSH1
T16 889-897 GeneOrGeneProduct denotes mutation
T17 967-971 GeneOrGeneProduct denotes case
T18 983-987 GeneOrGeneProduct denotes SSH1
T19 998-1009 GeneOrGeneProduct denotes phosphatase
T20 1023-1030 GeneOrGeneProduct denotes pivotal
T21 1039-1044 GeneOrGeneProduct denotes actin
T22 1092-1107 GeneOrGeneProduct denotes disorganization
T23 1121-1126 GeneOrGeneProduct denotes cells
T24 1130-1136 GeneOrGeneProduct denotes likely

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 52-56 GeneOrGeneProduct denotes SSH1
T2 246-254 GeneOrGeneProduct denotes multiple
T3 277-284 GeneOrGeneProduct denotes lesions
T4 310-316 GeneOrGeneProduct denotes raised
T5 748-752 GeneOrGeneProduct denotes SSH1
T6 848-852 GeneOrGeneProduct denotes SSH1
T7 983-987 GeneOrGeneProduct denotes SSH1
T8 998-1009 GeneOrGeneProduct denotes phosphatase
T9 1039-1044 GeneOrGeneProduct denotes actin
T10 1092-1107 GeneOrGeneProduct denotes disorganization

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 60-106 DiseaseOrPhenotypicFeature denotes disseminated superficial actinic porokeratosis D017499
T2 141-154 DiseaseOrPhenotypicFeature denotes porokeratosis D017499
T3 156-160 DiseaseOrPhenotypicFeature denotes DSAP D017499
T4 367-371 DiseaseOrPhenotypicFeature denotes DSAP D017499
T5 977-981 DiseaseOrPhenotypicFeature denotes DSAP D017499
T6 1173-1177 DiseaseOrPhenotypicFeature denotes DSAP D017499

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 60-106 DiseaseOrPhenotypicFeature denotes disseminated superficial actinic porokeratosis 0019212
T2 108-154 DiseaseOrPhenotypicFeature denotes Disseminated superficial actinic porokeratosis 0019212
T3 156-160 DiseaseOrPhenotypicFeature denotes DSAP 0019212
T4 367-371 DiseaseOrPhenotypicFeature denotes DSAP 0019212
T5 977-981 DiseaseOrPhenotypicFeature denotes DSAP 0019212
T6 1173-1177 DiseaseOrPhenotypicFeature denotes DSAP 0019212

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 52-56 GeneOrGeneProduct denotes SSH1
T2 748-752 GeneOrGeneProduct denotes SSH1
T3 848-852 GeneOrGeneProduct denotes SSH1
T4 983-987 GeneOrGeneProduct denotes SSH1
T5 998-1009 GeneOrGeneProduct denotes phosphatase
T6 1039-1044 GeneOrGeneProduct denotes actin
T7 1092-1107 GeneOrGeneProduct denotes disorganization

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 60-106 DiseaseOrPhenotypicFeature denotes disseminated superficial actinic porokeratosis DISEASE|D017499
T3 108-154 DiseaseOrPhenotypicFeature denotes Disseminated superficial actinic porokeratosis DISEASE
T4 156-160 DiseaseOrPhenotypicFeature denotes DSAP DISEASE
T5 204-227 DiseaseOrPhenotypicFeature denotes keratinization disorder DISEASE
T6 267-284 DiseaseOrPhenotypicFeature denotes keratotic lesions DISEASE
T7 367-371 DiseaseOrPhenotypicFeature denotes DSAP DISEASE
T8 977-981 DiseaseOrPhenotypicFeature denotes DSAP DISEASE
T9 1173-1177 DiseaseOrPhenotypicFeature denotes DSAP DISEASE

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 60-106 DiseaseOrPhenotypicFeature denotes disseminated superficial actinic porokeratosis D017499
T2 108-154 DiseaseOrPhenotypicFeature denotes Disseminated superficial actinic porokeratosis DISEASE
T3 156-160 DiseaseOrPhenotypicFeature denotes DSAP DISEASE
T4 204-227 DiseaseOrPhenotypicFeature denotes keratinization disorder DISEASE
T5 267-284 DiseaseOrPhenotypicFeature denotes keratotic lesions DISEASE
T6 367-371 DiseaseOrPhenotypicFeature denotes DSAP DISEASE
T7 977-981 DiseaseOrPhenotypicFeature denotes DSAP DISEASE
T8 1173-1177 DiseaseOrPhenotypicFeature denotes DSAP DISEASE

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 998-1009 ChemicalEntity denotes phosphatase D010744

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T1 998-1009 ChemicalEntity denotes phosphatase D010744
T7 1092-1107 GeneOrGeneProduct denotes disorganization
T6 1039-1044 GeneOrGeneProduct denotes actin
T5 998-1009 GeneOrGeneProduct denotes phosphatase
T4 983-987 GeneOrGeneProduct denotes SSH1
T3 848-852 GeneOrGeneProduct denotes SSH1
T2 748-752 GeneOrGeneProduct denotes SSH1
T9005 52-56 GeneOrGeneProduct denotes SSH1
T8 1173-1177 DiseaseOrPhenotypicFeature denotes DSAP DISEASE
T86473 977-981 DiseaseOrPhenotypicFeature denotes DSAP DISEASE
T17160 367-371 DiseaseOrPhenotypicFeature denotes DSAP DISEASE
T99296 267-284 DiseaseOrPhenotypicFeature denotes keratotic lesions DISEASE
T395 204-227 DiseaseOrPhenotypicFeature denotes keratinization disorder DISEASE
T83183 156-160 DiseaseOrPhenotypicFeature denotes DSAP DISEASE
T69650 108-154 DiseaseOrPhenotypicFeature denotes Disseminated superficial actinic porokeratosis DISEASE
T33163 60-106 DiseaseOrPhenotypicFeature denotes disseminated superficial actinic porokeratosis D017499
T68730 899-914 SequenceVariant denotes p.Pro27ProfsX54
T35345 791-806 SequenceVariant denotes p.Ser19CysfsX24
T44277 734-744 SequenceVariant denotes p.Ser63Asn

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
15459975-0#52#56#gene54434 52-56 gene54434 denotes SSH1
15459975-0#60#106#diseaseC0265970 60-106 diseaseC0265970 denotes disseminated superficial actinic porokeratosis
52#56#gene5443460#106#diseaseC0265970 15459975-0#52#56#gene54434 15459975-0#60#106#diseaseC0265970 associated_with SSH1,disseminated superficial actinic porokeratosis

DisGeNET

Id Subject Object Predicate Lexical cue
T0 52-56 gene:54434 denotes SSH1
T1 60-106 disease:C0265970 denotes disseminated superficial actinic porokeratosis
T2 848-852 gene:54434 denotes SSH1
T3 977-981 disease:C1867981 denotes DSAP
T4 748-752 gene:54434 denotes SSH1
T5 977-981 disease:C1867981 denotes DSAP
R1 T0 T1 associated_with SSH1,disseminated superficial actinic porokeratosis
R2 T2 T3 associated_with SSH1,DSAP
R3 T4 T5 associated_with SSH1,DSAP