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PubMed:16781314 JSONTXT

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LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-136 Sentence denotes Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.
T2 137-287 Sentence denotes We report an unusual case of an inherited disorder of the desmosomal protein plakophilin 1, resulting in ectodermal dysplasia-skin fragility syndrome.
T3 288-443 Sentence denotes The affected 6-year-old boy had red skin at birth and subsequently developed skin fragility, progressive plantar keratoderma, nail dystrophy, and alopecia.
T4 444-571 Sentence denotes Skin biopsy revealed widening of intercellular spaces in the epidermis and a reduced number of small, poorly formed desmosomes.
T5 572-689 Sentence denotes Mutation analysis of the plakophilin 1 gene PKP1 revealed a homozygous deletion of C at nucleotide 888 within exon 5.
T6 690-818 Sentence denotes This mutation differs from the PKP1 gene pathology reported in 8 previously published individuals with this rare genodermatosis.
T7 819-1043 Sentence denotes However, all cases show similar clinical features, highlighting the importance of functional plakophilin 1 in maintaining desmosomal adhesion in skin, as well as the role of this protein in aspects of ectodermal development.

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
3016 0-44 DiseaseOrPhenotypicFeature denotes Ectodermal dysplasia-skin fragility syndrome MESH:C536183
3017 87-94 SequenceVariant denotes 888delC c|DEL888|C
3018 122-135 GeneOrGeneProduct denotes plakophilin 1 NCBIGene:5317
3019 169-187 DiseaseOrPhenotypicFeature denotes inherited disorder MESH:D030342
3020 214-227 GeneOrGeneProduct denotes plakophilin 1 NCBIGene:5317
3021 242-286 DiseaseOrPhenotypicFeature denotes ectodermal dysplasia-skin fragility syndrome MESH:C536183
3022 365-379 DiseaseOrPhenotypicFeature denotes skin fragility MESH:C536183
3023 393-412 DiseaseOrPhenotypicFeature denotes plantar keratoderma MESH:D017499
3024 414-428 DiseaseOrPhenotypicFeature denotes nail dystrophy MESH:D009260
3025 434-442 DiseaseOrPhenotypicFeature denotes alopecia MESH:D000505
3026 597-610 GeneOrGeneProduct denotes plakophilin 1 NCBIGene:5317
3027 616-620 GeneOrGeneProduct denotes PKP1 NCBIGene:5317
3028 643-674 SequenceVariant denotes deletion of C at nucleotide 888 c|DEL888|C
3029 721-725 GeneOrGeneProduct denotes PKP1 NCBIGene:5317
3030 803-817 DiseaseOrPhenotypicFeature denotes genodermatosis MESH:D012873
3031 912-925 GeneOrGeneProduct denotes plakophilin 1 NCBIGene:5317

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 169-178 DiseaseOrPhenotypicFeature denotes inherited 0021152
T2 434-442 DiseaseOrPhenotypicFeature denotes alopecia 0004907
T3 798-802 DiseaseOrPhenotypicFeature denotes rare 0021136

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 87-94 SequenceVariant denotes 888delC
T2 643-656 SequenceVariant denotes deletion of C

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 0-10 GeneOrGeneProduct denotes Ectodermal
T2 21-25 GeneOrGeneProduct denotes skin
T3 36-44 GeneOrGeneProduct denotes syndrome
T4 77-85 GeneOrGeneProduct denotes mutation
T5 114-121 GeneOrGeneProduct denotes protein
T6 122-135 GeneOrGeneProduct denotes plakophilin 1
T7 158-162 GeneOrGeneProduct denotes case
T8 206-213 GeneOrGeneProduct denotes protein
T9 214-227 GeneOrGeneProduct denotes plakophilin 1
T10 242-252 GeneOrGeneProduct denotes ectodermal
T11 263-267 GeneOrGeneProduct denotes skin
T12 278-286 GeneOrGeneProduct denotes syndrome
T13 303-307 GeneOrGeneProduct denotes year
T14 320-323 GeneOrGeneProduct denotes red
T15 324-328 GeneOrGeneProduct denotes skin
T16 365-369 GeneOrGeneProduct denotes skin
T17 414-418 GeneOrGeneProduct denotes nail
T18 434-442 GeneOrGeneProduct denotes alopecia
T19 444-448 GeneOrGeneProduct denotes Skin
T20 521-528 GeneOrGeneProduct denotes reduced
T21 539-544 GeneOrGeneProduct denotes small
T22 572-580 GeneOrGeneProduct denotes Mutation
T23 597-610 GeneOrGeneProduct denotes plakophilin 1
T24 616-620 GeneOrGeneProduct denotes PKP1
T25 695-703 GeneOrGeneProduct denotes mutation
T26 721-725 GeneOrGeneProduct denotes PKP1
T27 750-754 GeneOrGeneProduct denotes in 8
T28 798-802 GeneOrGeneProduct denotes rare
T29 828-831 GeneOrGeneProduct denotes all
T30 832-837 GeneOrGeneProduct denotes cases
T31 843-850 GeneOrGeneProduct denotes similar
T32 912-925 GeneOrGeneProduct denotes plakophilin 1
T33 952-960 GeneOrGeneProduct denotes adhesion
T34 964-968 GeneOrGeneProduct denotes skin
T35 998-1005 GeneOrGeneProduct denotes protein
T36 1020-1030 GeneOrGeneProduct denotes ectodermal

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 0-10 GeneOrGeneProduct denotes Ectodermal
T2 36-44 GeneOrGeneProduct denotes syndrome
T3 114-121 GeneOrGeneProduct denotes protein
T4 122-135 GeneOrGeneProduct denotes plakophilin 1
T5 206-213 GeneOrGeneProduct denotes protein
T6 214-227 GeneOrGeneProduct denotes plakophilin 1
T7 242-252 GeneOrGeneProduct denotes ectodermal
T8 278-286 GeneOrGeneProduct denotes syndrome
T9 434-442 GeneOrGeneProduct denotes alopecia
T10 444-448 GeneOrGeneProduct denotes Skin
T11 521-528 GeneOrGeneProduct denotes reduced
T12 539-544 GeneOrGeneProduct denotes small
T13 597-610 GeneOrGeneProduct denotes plakophilin 1
T14 616-620 GeneOrGeneProduct denotes PKP1
T15 721-725 GeneOrGeneProduct denotes PKP1
T16 798-802 GeneOrGeneProduct denotes rare
T17 843-850 GeneOrGeneProduct denotes similar
T18 912-925 GeneOrGeneProduct denotes plakophilin 1
T19 952-960 GeneOrGeneProduct denotes adhesion
T20 998-1005 GeneOrGeneProduct denotes protein
T21 1020-1030 GeneOrGeneProduct denotes ectodermal

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 0-44 DiseaseOrPhenotypicFeature denotes Ectodermal dysplasia-skin fragility syndrome C536183
T2 169-187 DiseaseOrPhenotypicFeature denotes inherited disorder DISEASE
T3 242-286 DiseaseOrPhenotypicFeature denotes ectodermal dysplasia-skin fragility syndrome C536183
T4 434-442 DiseaseOrPhenotypicFeature denotes alopecia D000505

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 122-135 GeneOrGeneProduct denotes plakophilin 1
T2 214-227 GeneOrGeneProduct denotes plakophilin 1
T3 444-448 GeneOrGeneProduct denotes Skin
T4 597-610 GeneOrGeneProduct denotes plakophilin 1
T5 616-620 GeneOrGeneProduct denotes PKP1
T6 721-725 GeneOrGeneProduct denotes PKP1
T7 912-925 GeneOrGeneProduct denotes plakophilin 1

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 0-44 DiseaseOrPhenotypicFeature denotes Ectodermal dysplasia-skin fragility syndrome 0011472
T2 242-286 DiseaseOrPhenotypicFeature denotes ectodermal dysplasia-skin fragility syndrome 0011472
T3 324-328 DiseaseOrPhenotypicFeature denotes skin 0002531
T4 365-369 DiseaseOrPhenotypicFeature denotes skin 0002531
T5 401-412 DiseaseOrPhenotypicFeature denotes keratoderma 0006566
T6 434-442 DiseaseOrPhenotypicFeature denotes alopecia 0004907
T7 803-817 DiseaseOrPhenotypicFeature denotes genodermatosis 0024255
T8 964-968 DiseaseOrPhenotypicFeature denotes skin 0002531

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 0-44 DiseaseOrPhenotypicFeature denotes Ectodermal dysplasia-skin fragility syndrome C536183
T2 169-187 DiseaseOrPhenotypicFeature denotes inherited disorder DISEASE
T3 242-286 DiseaseOrPhenotypicFeature denotes ectodermal dysplasia-skin fragility syndrome C536183
T4 365-379 DiseaseOrPhenotypicFeature denotes skin fragility DISEASE
T5 393-412 DiseaseOrPhenotypicFeature denotes plantar keratoderma DISEASE
T6 414-428 DiseaseOrPhenotypicFeature denotes nail dystrophy DISEASE
T7 434-442 DiseaseOrPhenotypicFeature denotes alopecia D000505
T8 803-817 DiseaseOrPhenotypicFeature denotes genodermatosis DISEASE

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 0-44 DiseaseOrPhenotypicFeature denotes Ectodermal dysplasia-skin fragility syndrome C536183
T2 169-187 DiseaseOrPhenotypicFeature denotes inherited disorder DISEASE
T3 242-286 DiseaseOrPhenotypicFeature denotes ectodermal dysplasia-skin fragility syndrome C536183
T4 365-379 DiseaseOrPhenotypicFeature denotes skin fragility DISEASE
T5 393-412 DiseaseOrPhenotypicFeature denotes plantar keratoderma DISEASE
T6 414-428 DiseaseOrPhenotypicFeature denotes nail dystrophy DISEASE
T7 434-442 DiseaseOrPhenotypicFeature denotes alopecia D000505
T8 803-817 DiseaseOrPhenotypicFeature denotes genodermatosis DISEASE

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label
T7 912-925 GeneOrGeneProduct denotes plakophilin 1
T6 721-725 GeneOrGeneProduct denotes PKP1
T5 616-620 GeneOrGeneProduct denotes PKP1
T4 597-610 GeneOrGeneProduct denotes plakophilin 1
T3 444-448 GeneOrGeneProduct denotes Skin
T2 214-227 GeneOrGeneProduct denotes plakophilin 1
T1 122-135 GeneOrGeneProduct denotes plakophilin 1
T8 803-817 DiseaseOrPhenotypicFeature denotes genodermatosis DISEASE
T98095 434-442 DiseaseOrPhenotypicFeature denotes alopecia D000505
T11431 414-428 DiseaseOrPhenotypicFeature denotes nail dystrophy DISEASE
T73192 393-412 DiseaseOrPhenotypicFeature denotes plantar keratoderma DISEASE
T95371 365-379 DiseaseOrPhenotypicFeature denotes skin fragility DISEASE
T32858 242-286 DiseaseOrPhenotypicFeature denotes ectodermal dysplasia-skin fragility syndrome C536183
T3596 169-187 DiseaseOrPhenotypicFeature denotes inherited disorder DISEASE
T73070 0-44 DiseaseOrPhenotypicFeature denotes Ectodermal dysplasia-skin fragility syndrome C536183
T20656 643-656 SequenceVariant denotes deletion of C
T254 87-94 SequenceVariant denotes 888delC

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-136 Sentence denotes Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.
TextSentencer_T2 137-287 Sentence denotes We report an unusual case of an inherited disorder of the desmosomal protein plakophilin 1, resulting in ectodermal dysplasia-skin fragility syndrome.
TextSentencer_T3 288-443 Sentence denotes The affected 6-year-old boy had red skin at birth and subsequently developed skin fragility, progressive plantar keratoderma, nail dystrophy, and alopecia.
TextSentencer_T4 444-571 Sentence denotes Skin biopsy revealed widening of intercellular spaces in the epidermis and a reduced number of small, poorly formed desmosomes.
TextSentencer_T5 572-689 Sentence denotes Mutation analysis of the plakophilin 1 gene PKP1 revealed a homozygous deletion of C at nucleotide 888 within exon 5.
TextSentencer_T6 690-818 Sentence denotes This mutation differs from the PKP1 gene pathology reported in 8 previously published individuals with this rare genodermatosis.
TextSentencer_T7 819-1043 Sentence denotes However, all cases show similar clinical features, highlighting the importance of functional plakophilin 1 in maintaining desmosomal adhesion in skin, as well as the role of this protein in aspects of ectodermal development.
T1 0-136 Sentence denotes Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.
T2 137-287 Sentence denotes We report an unusual case of an inherited disorder of the desmosomal protein plakophilin 1, resulting in ectodermal dysplasia-skin fragility syndrome.
T3 288-443 Sentence denotes The affected 6-year-old boy had red skin at birth and subsequently developed skin fragility, progressive plantar keratoderma, nail dystrophy, and alopecia.
T4 444-571 Sentence denotes Skin biopsy revealed widening of intercellular spaces in the epidermis and a reduced number of small, poorly formed desmosomes.
T5 572-689 Sentence denotes Mutation analysis of the plakophilin 1 gene PKP1 revealed a homozygous deletion of C at nucleotide 888 within exon 5.
T6 690-818 Sentence denotes This mutation differs from the PKP1 gene pathology reported in 8 previously published individuals with this rare genodermatosis.
T7 819-1043 Sentence denotes However, all cases show similar clinical features, highlighting the importance of functional plakophilin 1 in maintaining desmosomal adhesion in skin, as well as the role of this protein in aspects of ectodermal development.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 242-262 HP_0000968 denotes ectodermal dysplasia
T2 263-277 HP_0001030 denotes skin fragility
T3 365-379 HP_0001030 denotes skin fragility
T4 414-428 HP_0008404 denotes nail dystrophy
T5 434-442 HP_0001596 denotes alopecia

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
16781314-1#77#90#gene5317 214-227 gene5317 denotes plakophilin 1
16781314-1#105#149#diseaseC1858302 242-286 diseaseC1858302 denotes ectodermal dysplasia-skin fragility syndrome
16781314-5#31#35#gene5317 721-725 gene5317 denotes PKP1
16781314-5#113#127#diseaseC0037277 803-817 diseaseC0037277 denotes genodermatosis
77#90#gene5317105#149#diseaseC1858302 16781314-1#77#90#gene5317 16781314-1#105#149#diseaseC1858302 associated_with plakophilin 1,ectodermal dysplasia-skin fragility syndrome
31#35#gene5317113#127#diseaseC0037277 16781314-5#31#35#gene5317 16781314-5#113#127#diseaseC0037277 associated_with PKP1,genodermatosis

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 0-20 HP:0000968 denotes Ectodermal dysplasia
AB1 242-262 HP:0000968 denotes ectodermal dysplasia
AB2 414-428 HP:0008404 denotes nail dystrophy
AB3 434-442 HP:0001596 denotes alopecia

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 0-44 ORDO:158668 denotes Ectodermal dysplasia-skin fragility syndrome
AB1 242-286 ORDO:158668 denotes ectodermal dysplasia-skin fragility syndrome

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 414-418 http://purl.obolibrary.org/obo/UBERON_0001705 denotes nail
PD-UBERON-AE-B_T2 0-10 http://purl.obolibrary.org/obo/UBERON_0000924 denotes Ectodermal
PD-UBERON-AE-B_T3 242-252 http://purl.obolibrary.org/obo/UBERON_0000924 denotes ectodermal
PD-UBERON-AE-B_T4 1020-1030 http://purl.obolibrary.org/obo/UBERON_0000924 denotes ectodermal

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 87-94 DNAMutation:|DEL|888|C denotes 888delC

DisGeNET

Id Subject Object Predicate Lexical cue
T0 214-227 gene:5317 denotes plakophilin 1
T1 242-286 disease:C1858302 denotes ectodermal dysplasia-skin fragility syndrome
T2 721-725 gene:5317 denotes PKP1
T3 803-817 disease:C0037277 denotes genodermatosis
R1 T0 T1 associated_with plakophilin 1,ectodermal dysplasia-skin fragility syndrome
R2 T2 T3 associated_with PKP1,genodermatosis