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PubMed:20846357 JSONTXT

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LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 1480-1501 OrganismTaxon denotes Klebsiella pneumoniae NCBItxid:573

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-147 Sentence denotes A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome.
T2 148-159 Sentence denotes BACKGROUND:
T3 160-343 Sentence denotes Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal disorder, caused by heterozygous missense mutation in GJB2, encoding the gap junction protein connexin 26.
T4 344-454 Sentence denotes The commonest mutation is the p.Asp50Asn mutation, and only a few other mutations have been described to date.
T5 455-459 Sentence denotes AIM:
T6 460-624 Sentence denotes To report the fatal clinical course and characterize the genetic background of a premature male neonate with the clinical and histological features of KID syndrome.
T7 625-633 Sentence denotes METHODS:
T8 634-730 Sentence denotes Genomic DNA was extracted from peripheral blood and used for PCR amplification of the GJB2 gene.
T9 731-780 Sentence denotes Direct sequencing was used for mutation analysis.
T10 781-789 Sentence denotes RESULTS:
T11 790-1014 Sentence denotes The clinical features included hearing impairment, ichthyosiform erythroderma with hyperkeratotic plaques, palmoplantar keratoderma, alopecia of the scalp and eyelashes, and a thick vernix caseosa-like covering of the scalp.
T12 1015-1181 Sentence denotes On histological analysis, features characteristic of KID syndrome, such as acanthosis and papillomatosis of the epidermis with basket-weave hyperkeratosis, were seen.
T13 1182-1251 Sentence denotes The skin symptoms were treated successfully with acitretin 0.5 mg/kg.
T14 1252-1343 Sentence denotes The boy developed intraventricular and intracerebral haemorrhage, leading to hydrocephalus.
T15 1344-1502 Sentence denotes His condition was further complicated by septicaemia and meningitis caused by infection with extended-spectrum beta-lactamase-producing Klebsiella pneumoniae.
T16 1503-1613 Sentence denotes Severe respiratory failure followed, and the child died at 46 weeks of gestational age (13 weeks postnatally).
T17 1614-1809 Sentence denotes Sequencing of the GJB2 gene showed that the child was heterozygous for a novel nucleotide change, c.263C>T, in exon 2, leading to a substitution of alanine for valine at position 88 (p.Ala88Val).
T18 1810-1822 Sentence denotes CONCLUSIONS:
T19 1823-1949 Sentence denotes This study has identified a new heterozygous de novo mutation in the Cx26 gene (c.263C>T; p.Ala88Val) leading to KID syndrome.

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
8054 24-35 GeneOrGeneProduct denotes connexin 26 NCBIGene:2706
8055 42-46 GeneOrGeneProduct denotes GJB2 NCBIGene:2706
8056 102-146 DiseaseOrPhenotypicFeature denotes keratitis-ichthyosis-deafness (KID) syndrome MESH:C536168
8057 160-204 DiseaseOrPhenotypicFeature denotes Keratitis-ichthyosis-deafness (KID) syndrome MESH:C536168
8058 215-245 DiseaseOrPhenotypicFeature denotes congenital ectodermal disorder MESH:D004476
8059 291-295 GeneOrGeneProduct denotes GJB2 NCBIGene:2706
8060 331-342 GeneOrGeneProduct denotes connexin 26 NCBIGene:2706
8061 374-384 SequenceVariant denotes p.Asp50Asn DBSNP:rs28931594
8062 611-623 DiseaseOrPhenotypicFeature denotes KID syndrome MESH:C536168
8063 720-724 GeneOrGeneProduct denotes GJB2 NCBIGene:2706
8064 821-839 DiseaseOrPhenotypicFeature denotes hearing impairment MESH:D034381
8065 841-867 DiseaseOrPhenotypicFeature denotes ichthyosiform erythroderma MESH:D016113
8066 897-921 DiseaseOrPhenotypicFeature denotes palmoplantar keratoderma MESH:D007645
8067 923-958 DiseaseOrPhenotypicFeature denotes alopecia of the scalp and eyelashes MESH:D000505
8068 1068-1080 DiseaseOrPhenotypicFeature denotes KID syndrome MESH:C536168
8069 1090-1100 DiseaseOrPhenotypicFeature denotes acanthosis MESH:D000052
8070 1105-1119 DiseaseOrPhenotypicFeature denotes papillomatosis MESH:D010212
8071 1155-1169 DiseaseOrPhenotypicFeature denotes hyperkeratosis MESH:D017488
8072 1231-1240 ChemicalEntity denotes acitretin MESH:D017255
8073 1270-1316 DiseaseOrPhenotypicFeature denotes intraventricular and intracerebral haemorrhage MESH:D000074042|MESH:D002543
8074 1329-1342 DiseaseOrPhenotypicFeature denotes hydrocephalus MESH:D006849
8075 1385-1396 DiseaseOrPhenotypicFeature denotes septicaemia MESH:D018805
8076 1401-1411 DiseaseOrPhenotypicFeature denotes meningitis MESH:D008581
8077 1422-1431 DiseaseOrPhenotypicFeature denotes infection MESH:D007239
8078 1480-1501 DiseaseOrPhenotypicFeature denotes Klebsiella pneumoniae MESH:D007710
8079 1510-1529 DiseaseOrPhenotypicFeature denotes respiratory failure MESH:D012131
8080 1632-1636 GeneOrGeneProduct denotes GJB2 NCBIGene:2706
8081 1712-1720 SequenceVariant denotes c.263C>T c|SUB|C|263|T
8082 1762-1795 SequenceVariant denotes alanine for valine at position 88 p|SUB|A|88|V
8083 1797-1807 SequenceVariant denotes p.Ala88Val p|SUB|A|88|V
8084 1892-1896 GeneOrGeneProduct denotes Cx26 NCBIGene:2706
8085 1903-1911 SequenceVariant denotes c.263C>T c|SUB|C|263|T
8086 1913-1923 SequenceVariant denotes p.Ala88Val p|SUB|A|88|V
8087 1936-1948 DiseaseOrPhenotypicFeature denotes KID syndrome MESH:C536168

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 102-111 DiseaseOrPhenotypicFeature denotes keratitis 0003085
T2 112-122 DiseaseOrPhenotypicFeature denotes ichthyosis 0019269
T3 132-146 DiseaseOrPhenotypicFeature denotes (KID) syndrome 0018781
T4 160-169 DiseaseOrPhenotypicFeature denotes Keratitis 0003085
T5 170-180 DiseaseOrPhenotypicFeature denotes ichthyosis 0019269
T6 190-204 DiseaseOrPhenotypicFeature denotes (KID) syndrome 0018781
T7 210-214 DiseaseOrPhenotypicFeature denotes rare 0021136
T8 215-225 DiseaseOrPhenotypicFeature denotes congenital 0021140
T9 611-623 DiseaseOrPhenotypicFeature denotes KID syndrome 0018781
T10 923-931 DiseaseOrPhenotypicFeature denotes alopecia 0004907
T11 1068-1080 DiseaseOrPhenotypicFeature denotes KID syndrome 0018781
T12 1105-1119 DiseaseOrPhenotypicFeature denotes papillomatosis 0021098
T13 1329-1342 DiseaseOrPhenotypicFeature denotes hydrocephalus 0001150
T14 1401-1411 DiseaseOrPhenotypicFeature denotes meningitis 0021108
T15 1480-1501 DiseaseOrPhenotypicFeature denotes Klebsiella pneumoniae 0030602
T16 1510-1529 DiseaseOrPhenotypicFeature denotes respiratory failure 0021113
T17 1936-1948 DiseaseOrPhenotypicFeature denotes KID syndrome 0018781

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 374-384 SequenceVariant denotes p.Asp50Asn
T2 1712-1720 SequenceVariant denotes c.263C>T
T3 1797-1807 SequenceVariant denotes p.Ala88Val
T4 1903-1911 SequenceVariant denotes c.263C>T
T5 1913-1923 SequenceVariant denotes p.Ala88Val

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 2-7 GeneOrGeneProduct denotes novel
T2 8-16 GeneOrGeneProduct denotes mutation
T3 24-35 GeneOrGeneProduct denotes connexin 26
T4 42-46 GeneOrGeneProduct denotes GJB2
T5 112-122 GeneOrGeneProduct denotes ichthyosis
T6 123-131 GeneOrGeneProduct denotes deafness
T7 138-146 GeneOrGeneProduct denotes syndrome
T8 170-180 GeneOrGeneProduct denotes ichthyosis
T9 181-189 GeneOrGeneProduct denotes deafness
T10 196-204 GeneOrGeneProduct denotes syndrome
T11 210-214 GeneOrGeneProduct denotes rare
T12 226-236 GeneOrGeneProduct denotes ectodermal
T13 270-278 GeneOrGeneProduct denotes missense
T14 279-287 GeneOrGeneProduct denotes mutation
T15 291-295 GeneOrGeneProduct denotes GJB2
T16 310-342 GeneOrGeneProduct denotes gap junction protein connexin 26
T17 358-366 GeneOrGeneProduct denotes mutation
T18 385-393 GeneOrGeneProduct denotes mutation
T19 410-415 GeneOrGeneProduct denotes other
T20 416-425 GeneOrGeneProduct denotes mutations
T21 551-555 GeneOrGeneProduct denotes male
T22 615-623 GeneOrGeneProduct denotes syndrome
T23 625-632 GeneOrGeneProduct denotes METHODS
T24 720-724 GeneOrGeneProduct denotes GJB2
T25 762-770 GeneOrGeneProduct denotes mutation
T26 923-931 GeneOrGeneProduct denotes alopecia
T27 966-971 GeneOrGeneProduct denotes thick
T28 987-991 GeneOrGeneProduct denotes like
T29 1072-1080 GeneOrGeneProduct denotes syndrome
T30 1142-1148 GeneOrGeneProduct denotes basket
T31 1186-1190 GeneOrGeneProduct denotes skin
T32 1245-1247 GeneOrGeneProduct denotes mg
T33 1437-1445 GeneOrGeneProduct denotes extended
T34 1455-1469 GeneOrGeneProduct denotes beta-lactamase
T35 1632-1636 GeneOrGeneProduct denotes GJB2
T36 1687-1692 GeneOrGeneProduct denotes novel
T37 1762-1769 GeneOrGeneProduct denotes alanine
T38 1876-1884 GeneOrGeneProduct denotes mutation
T39 1892-1896 GeneOrGeneProduct denotes Cx26
T40 1940-1948 GeneOrGeneProduct denotes syndrome

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 2-7 GeneOrGeneProduct denotes novel
T2 24-35 GeneOrGeneProduct denotes connexin 26
T3 42-46 GeneOrGeneProduct denotes GJB2
T4 112-122 GeneOrGeneProduct denotes ichthyosis
T5 138-146 GeneOrGeneProduct denotes syndrome
T6 170-180 GeneOrGeneProduct denotes ichthyosis
T7 196-204 GeneOrGeneProduct denotes syndrome
T8 210-214 GeneOrGeneProduct denotes rare
T9 226-236 GeneOrGeneProduct denotes ectodermal
T10 291-295 GeneOrGeneProduct denotes GJB2
T11 310-342 GeneOrGeneProduct denotes gap junction protein connexin 26
T12 410-415 GeneOrGeneProduct denotes other
T13 615-623 GeneOrGeneProduct denotes syndrome
T14 720-724 GeneOrGeneProduct denotes GJB2
T15 923-931 GeneOrGeneProduct denotes alopecia
T16 966-971 GeneOrGeneProduct denotes thick
T17 987-991 GeneOrGeneProduct denotes like
T18 1072-1080 GeneOrGeneProduct denotes syndrome
T19 1142-1148 GeneOrGeneProduct denotes basket
T20 1437-1445 GeneOrGeneProduct denotes extended
T21 1455-1469 GeneOrGeneProduct denotes beta-lactamase
T22 1632-1636 GeneOrGeneProduct denotes GJB2
T23 1687-1692 GeneOrGeneProduct denotes novel
T24 1762-1769 GeneOrGeneProduct denotes alanine
T25 1892-1896 GeneOrGeneProduct denotes Cx26
T26 1940-1948 GeneOrGeneProduct denotes syndrome

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 102-146 DiseaseOrPhenotypicFeature denotes keratitis-ichthyosis-deafness (KID) syndrome C536168
T2 160-204 DiseaseOrPhenotypicFeature denotes Keratitis-ichthyosis-deafness (KID) syndrome C536168
T3 611-623 DiseaseOrPhenotypicFeature denotes KID syndrome C536168
T4 821-839 DiseaseOrPhenotypicFeature denotes hearing impairment D034381
T5 855-867 DiseaseOrPhenotypicFeature denotes erythroderma D003873
T6 897-921 DiseaseOrPhenotypicFeature denotes palmoplantar keratoderma D007645
T7 923-931 DiseaseOrPhenotypicFeature denotes alopecia D000505
T8 1068-1080 DiseaseOrPhenotypicFeature denotes KID syndrome C536168
T9 1105-1119 DiseaseOrPhenotypicFeature denotes papillomatosis D010212
T10 1329-1342 DiseaseOrPhenotypicFeature denotes hydrocephalus D006849
T11 1401-1411 DiseaseOrPhenotypicFeature denotes meningitis D008581
T12 1422-1431 DiseaseOrPhenotypicFeature denotes infection D007239
T13 1491-1501 DiseaseOrPhenotypicFeature denotes pneumoniae D011014
T14 1510-1529 DiseaseOrPhenotypicFeature denotes respiratory failure D012131
T15 1936-1948 DiseaseOrPhenotypicFeature denotes KID syndrome C536168

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 24-35 GeneOrGeneProduct denotes connexin 26
T2 42-46 GeneOrGeneProduct denotes GJB2
T3 291-295 GeneOrGeneProduct denotes GJB2
T4 310-342 GeneOrGeneProduct denotes gap junction protein connexin 26
T5 720-724 GeneOrGeneProduct denotes GJB2
T6 966-971 GeneOrGeneProduct denotes thick
T7 1142-1148 GeneOrGeneProduct denotes basket
T8 1455-1469 GeneOrGeneProduct denotes beta-lactamase
T9 1632-1636 GeneOrGeneProduct denotes GJB2
T10 1892-1896 GeneOrGeneProduct denotes Cx26

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 53-58 DiseaseOrPhenotypicFeature denotes child 0017015
T2 102-146 DiseaseOrPhenotypicFeature denotes keratitis-ichthyosis-deafness (KID) syndrome 0018781
T3 160-204 DiseaseOrPhenotypicFeature denotes Keratitis-ichthyosis-deafness (KID) syndrome 0018781
T4 611-623 DiseaseOrPhenotypicFeature denotes KID syndrome 0018781
T5 821-839 DiseaseOrPhenotypicFeature denotes hearing impairment 0005365
T6 841-867 DiseaseOrPhenotypicFeature denotes ichthyosiform erythroderma 0019306
T7 897-921 DiseaseOrPhenotypicFeature denotes palmoplantar keratoderma 0006590
T8 923-931 DiseaseOrPhenotypicFeature denotes alopecia 0004907
T9 1068-1080 DiseaseOrPhenotypicFeature denotes KID syndrome 0018781
T10 1105-1119 DiseaseOrPhenotypicFeature denotes papillomatosis 0021098
T11 1186-1190 DiseaseOrPhenotypicFeature denotes skin 0002531
T12 1329-1342 DiseaseOrPhenotypicFeature denotes hydrocephalus 0001150
T13 1401-1411 DiseaseOrPhenotypicFeature denotes meningitis 0021108|0004796
T15 1422-1431 DiseaseOrPhenotypicFeature denotes infection 0005550
T16 1480-1501 DiseaseOrPhenotypicFeature denotes Klebsiella pneumoniae 0030602
T17 1510-1529 DiseaseOrPhenotypicFeature denotes respiratory failure 0021113
T18 1548-1553 DiseaseOrPhenotypicFeature denotes child 0017015
T19 1658-1663 DiseaseOrPhenotypicFeature denotes child 0017015
T20 1936-1948 DiseaseOrPhenotypicFeature denotes KID syndrome 0018781

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 102-146 DiseaseOrPhenotypicFeature denotes keratitis-ichthyosis-deafness (KID) syndrome C536168
T2 160-204 DiseaseOrPhenotypicFeature denotes Keratitis-ichthyosis-deafness (KID) syndrome C536168
T3 215-245 DiseaseOrPhenotypicFeature denotes congenital ectodermal disorder DISEASE
T4 611-623 DiseaseOrPhenotypicFeature denotes KID syndrome C536168
T5 821-839 DiseaseOrPhenotypicFeature denotes hearing impairment D034381
T6 855-867 DiseaseOrPhenotypicFeature denotes erythroderma D003873
T7 897-921 DiseaseOrPhenotypicFeature denotes palmoplantar keratoderma D007645
T8 923-958 DiseaseOrPhenotypicFeature denotes alopecia of the scalp and eyelashes DISEASE
T9 1068-1080 DiseaseOrPhenotypicFeature denotes KID syndrome C536168
T10 1090-1100 DiseaseOrPhenotypicFeature denotes acanthosis DISEASE
T11 1105-1119 DiseaseOrPhenotypicFeature denotes papillomatosis D010212
T12 1155-1169 DiseaseOrPhenotypicFeature denotes hyperkeratosis DISEASE
T13 1270-1316 DiseaseOrPhenotypicFeature denotes intraventricular and intracerebral haemorrhage DISEASE
T14 1329-1342 DiseaseOrPhenotypicFeature denotes hydrocephalus D006849
T15 1385-1396 DiseaseOrPhenotypicFeature denotes septicaemia DISEASE
T16 1401-1411 DiseaseOrPhenotypicFeature denotes meningitis D008581
T17 1422-1431 DiseaseOrPhenotypicFeature denotes infection D007239
T18 1491-1501 DiseaseOrPhenotypicFeature denotes pneumoniae D011014
T19 1510-1529 DiseaseOrPhenotypicFeature denotes respiratory failure D012131
T20 1554-1558 DiseaseOrPhenotypicFeature denotes died DISEASE
T21 1936-1948 DiseaseOrPhenotypicFeature denotes KID syndrome C536168

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 102-146 DiseaseOrPhenotypicFeature denotes keratitis-ichthyosis-deafness (KID) syndrome C536168
T2 160-204 DiseaseOrPhenotypicFeature denotes Keratitis-ichthyosis-deafness (KID) syndrome C536168
T3 215-245 DiseaseOrPhenotypicFeature denotes congenital ectodermal disorder DISEASE
T4 611-623 DiseaseOrPhenotypicFeature denotes KID syndrome C536168
T5 821-839 DiseaseOrPhenotypicFeature denotes hearing impairment D034381
T6 855-867 DiseaseOrPhenotypicFeature denotes erythroderma D003873
T7 897-921 DiseaseOrPhenotypicFeature denotes palmoplantar keratoderma D007645
T8 923-958 DiseaseOrPhenotypicFeature denotes alopecia of the scalp and eyelashes DISEASE
T9 1068-1080 DiseaseOrPhenotypicFeature denotes KID syndrome C536168
T10 1090-1100 DiseaseOrPhenotypicFeature denotes acanthosis DISEASE
T11 1105-1119 DiseaseOrPhenotypicFeature denotes papillomatosis D010212
T12 1155-1169 DiseaseOrPhenotypicFeature denotes hyperkeratosis DISEASE
T13 1270-1316 DiseaseOrPhenotypicFeature denotes intraventricular and intracerebral haemorrhage DISEASE
T14 1329-1342 DiseaseOrPhenotypicFeature denotes hydrocephalus D006849
T15 1385-1396 DiseaseOrPhenotypicFeature denotes septicaemia DISEASE
T16 1401-1411 DiseaseOrPhenotypicFeature denotes meningitis D008581
T17 1491-1501 DiseaseOrPhenotypicFeature denotes pneumoniae D011014
T18 1510-1529 DiseaseOrPhenotypicFeature denotes respiratory failure D012131
T19 1554-1558 DiseaseOrPhenotypicFeature denotes died DISEASE
T20 1936-1948 DiseaseOrPhenotypicFeature denotes KID syndrome C536168

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 1480-1501 OrganismTaxon denotes Klebsiella pneumoniae

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 455-458 ChemicalEntity denotes AIM http://purl.obolibrary.org/obo/CHEBI_3416
T2 1231-1240 ChemicalEntity denotes acitretin D017255|http://purl.obolibrary.org/obo/CHEBI_50173|http://purl.obolibrary.org/obo/CHEBI_50172
T5 1455-1469 ChemicalEntity denotes beta-lactamase D001618
T6 1762-1769 ChemicalEntity denotes alanine http://purl.obolibrary.org/obo/CHEBI_16449
T7 1774-1780 ChemicalEntity denotes valine http://purl.obolibrary.org/obo/CHEBI_27266

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T7 1774-1780 ChemicalEntity denotes valine http://purl.obolibrary.org/obo/CHEBI_27266
T6 1762-1769 ChemicalEntity denotes alanine http://purl.obolibrary.org/obo/CHEBI_16449
T5 1455-1469 ChemicalEntity denotes beta-lactamase D001618
T2 1231-1240 ChemicalEntity denotes acitretin http://purl.obolibrary.org/obo/CHEBI_50172|http://purl.obolibrary.org/obo/CHEBI_50173|D017255
T1 455-458 ChemicalEntity denotes AIM http://purl.obolibrary.org/obo/CHEBI_3416
T10 1892-1896 GeneOrGeneProduct denotes Cx26
T9 1632-1636 GeneOrGeneProduct denotes GJB2
T8 1455-1469 GeneOrGeneProduct denotes beta-lactamase
T26983 1142-1148 GeneOrGeneProduct denotes basket
T93867 966-971 GeneOrGeneProduct denotes thick
T51122 720-724 GeneOrGeneProduct denotes GJB2
T4 310-342 GeneOrGeneProduct denotes gap junction protein connexin 26
T3 291-295 GeneOrGeneProduct denotes GJB2
T391 42-46 GeneOrGeneProduct denotes GJB2
T60262 24-35 GeneOrGeneProduct denotes connexin 26
T20 1936-1948 DiseaseOrPhenotypicFeature denotes KID syndrome C536168
T19 1554-1558 DiseaseOrPhenotypicFeature denotes died DISEASE
T18 1510-1529 DiseaseOrPhenotypicFeature denotes respiratory failure D012131
T17 1491-1501 DiseaseOrPhenotypicFeature denotes pneumoniae D011014
T16 1401-1411 DiseaseOrPhenotypicFeature denotes meningitis D008581
T15 1385-1396 DiseaseOrPhenotypicFeature denotes septicaemia DISEASE
T14 1329-1342 DiseaseOrPhenotypicFeature denotes hydrocephalus D006849
T13 1270-1316 DiseaseOrPhenotypicFeature denotes intraventricular and intracerebral haemorrhage DISEASE
T12 1155-1169 DiseaseOrPhenotypicFeature denotes hyperkeratosis DISEASE
T11 1105-1119 DiseaseOrPhenotypicFeature denotes papillomatosis D010212
T80256 1090-1100 DiseaseOrPhenotypicFeature denotes acanthosis DISEASE
T57722 1068-1080 DiseaseOrPhenotypicFeature denotes KID syndrome C536168
T345 923-958 DiseaseOrPhenotypicFeature denotes alopecia of the scalp and eyelashes DISEASE
T27266 897-921 DiseaseOrPhenotypicFeature denotes palmoplantar keratoderma D007645
T44801 855-867 DiseaseOrPhenotypicFeature denotes erythroderma D003873
T16818 821-839 DiseaseOrPhenotypicFeature denotes hearing impairment D034381
T59486 611-623 DiseaseOrPhenotypicFeature denotes KID syndrome C536168
T97852 215-245 DiseaseOrPhenotypicFeature denotes congenital ectodermal disorder DISEASE
T98087 160-204 DiseaseOrPhenotypicFeature denotes Keratitis-ichthyosis-deafness (KID) syndrome C536168
T58578 102-146 DiseaseOrPhenotypicFeature denotes keratitis-ichthyosis-deafness (KID) syndrome C536168
T86758 1480-1501 OrganismTaxon denotes Klebsiella pneumoniae
T42879 1913-1923 SequenceVariant denotes p.Ala88Val
T46122 1903-1911 SequenceVariant denotes c.263C>T
T30613 1797-1807 SequenceVariant denotes p.Ala88Val
T4622 1712-1720 SequenceVariant denotes c.263C>T
T3292 374-384 SequenceVariant denotes p.Asp50Asn

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-147 Sentence denotes A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome.
TextSentencer_T2 148-159 Sentence denotes BACKGROUND:
TextSentencer_T3 160-343 Sentence denotes Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal disorder, caused by heterozygous missense mutation in GJB2, encoding the gap junction protein connexin 26.
TextSentencer_T4 344-454 Sentence denotes The commonest mutation is the p.Asp50Asn mutation, and only a few other mutations have been described to date.
TextSentencer_T5 455-459 Sentence denotes AIM:
TextSentencer_T6 460-624 Sentence denotes To report the fatal clinical course and characterize the genetic background of a premature male neonate with the clinical and histological features of KID syndrome.
TextSentencer_T7 625-633 Sentence denotes METHODS:
TextSentencer_T8 634-730 Sentence denotes Genomic DNA was extracted from peripheral blood and used for PCR amplification of the GJB2 gene.
TextSentencer_T9 731-780 Sentence denotes Direct sequencing was used for mutation analysis.
TextSentencer_T10 781-789 Sentence denotes RESULTS:
TextSentencer_T11 790-1014 Sentence denotes The clinical features included hearing impairment, ichthyosiform erythroderma with hyperkeratotic plaques, palmoplantar keratoderma, alopecia of the scalp and eyelashes, and a thick vernix caseosa-like covering of the scalp.
TextSentencer_T12 1015-1181 Sentence denotes On histological analysis, features characteristic of KID syndrome, such as acanthosis and papillomatosis of the epidermis with basket-weave hyperkeratosis, were seen.
TextSentencer_T13 1182-1251 Sentence denotes The skin symptoms were treated successfully with acitretin 0.5 mg/kg.
TextSentencer_T14 1252-1343 Sentence denotes The boy developed intraventricular and intracerebral haemorrhage, leading to hydrocephalus.
TextSentencer_T15 1344-1502 Sentence denotes His condition was further complicated by septicaemia and meningitis caused by infection with extended-spectrum beta-lactamase-producing Klebsiella pneumoniae.
TextSentencer_T16 1503-1613 Sentence denotes Severe respiratory failure followed, and the child died at 46 weeks of gestational age (13 weeks postnatally).
TextSentencer_T17 1614-1809 Sentence denotes Sequencing of the GJB2 gene showed that the child was heterozygous for a novel nucleotide change, c.263C>T, in exon 2, leading to a substitution of alanine for valine at position 88 (p.Ala88Val).
TextSentencer_T18 1810-1822 Sentence denotes CONCLUSIONS:
TextSentencer_T19 1823-1949 Sentence denotes This study has identified a new heterozygous de novo mutation in the Cx26 gene (c.263C>T; p.Ala88Val) leading to KID syndrome.
T1 0-147 Sentence denotes A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome.
T2 148-159 Sentence denotes BACKGROUND:
T3 160-343 Sentence denotes Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal disorder, caused by heterozygous missense mutation in GJB2, encoding the gap junction protein connexin 26.
T4 344-454 Sentence denotes The commonest mutation is the p.Asp50Asn mutation, and only a few other mutations have been described to date.
T5 455-459 Sentence denotes AIM:
T6 460-624 Sentence denotes To report the fatal clinical course and characterize the genetic background of a premature male neonate with the clinical and histological features of KID syndrome.
T7 625-633 Sentence denotes METHODS:
T8 634-730 Sentence denotes Genomic DNA was extracted from peripheral blood and used for PCR amplification of the GJB2 gene.
T9 731-780 Sentence denotes Direct sequencing was used for mutation analysis.
T10 781-789 Sentence denotes RESULTS:
T11 790-1014 Sentence denotes The clinical features included hearing impairment, ichthyosiform erythroderma with hyperkeratotic plaques, palmoplantar keratoderma, alopecia of the scalp and eyelashes, and a thick vernix caseosa-like covering of the scalp.
T12 1015-1181 Sentence denotes On histological analysis, features characteristic of KID syndrome, such as acanthosis and papillomatosis of the epidermis with basket-weave hyperkeratosis, were seen.
T13 1182-1251 Sentence denotes The skin symptoms were treated successfully with acitretin 0.5 mg/kg.
T14 1252-1343 Sentence denotes The boy developed intraventricular and intracerebral haemorrhage, leading to hydrocephalus.
T15 1344-1502 Sentence denotes His condition was further complicated by septicaemia and meningitis caused by infection with extended-spectrum beta-lactamase-producing Klebsiella pneumoniae.
T16 1503-1613 Sentence denotes Severe respiratory failure followed, and the child died at 46 weeks of gestational age (13 weeks postnatally).
T17 1614-1809 Sentence denotes Sequencing of the GJB2 gene showed that the child was heterozygous for a novel nucleotide change, c.263C>T, in exon 2, leading to a substitution of alanine for valine at position 88 (p.Ala88Val).
T18 1810-1822 Sentence denotes CONCLUSIONS:
T19 1823-1949 Sentence denotes This study has identified a new heterozygous de novo mutation in the Cx26 gene (c.263C>T; p.Ala88Val) leading to KID syndrome.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 24-35 gene:2706 denotes connexin 26
T1 102-111 disease:C0022568 denotes keratitis
T2 24-35 gene:2706 denotes connexin 26
T3 133-146 disease:C0265336 denotes KID) syndrome
T4 24-35 gene:2706 denotes connexin 26
T5 133-146 disease:C3665333 denotes KID) syndrome
T6 42-46 gene:2706 denotes GJB2
T7 102-111 disease:C0022568 denotes keratitis
T8 42-46 gene:2706 denotes GJB2
T9 133-146 disease:C0265336 denotes KID) syndrome
T10 42-46 gene:2706 denotes GJB2
T11 133-146 disease:C3665333 denotes KID) syndrome
R1 T0 T1 associated_with connexin 26,keratitis
R2 T2 T3 associated_with connexin 26,KID) syndrome
R3 T4 T5 associated_with connexin 26,KID) syndrome
R4 T6 T7 associated_with GJB2,keratitis
R5 T8 T9 associated_with GJB2,KID) syndrome
R6 T10 T11 associated_with GJB2,KID) syndrome

Allie

Id Subject Object Predicate Lexical cue
SS1_20846357_0_0 102-131 expanded denotes keratitis-ichthyosis-deafness
SS2_20846357_0_0 133-136 abbr denotes KID
SS1_20846357_2_0 160-189 expanded denotes Keratitis-ichthyosis-deafness
SS2_20846357_2_0 191-194 abbr denotes KID
AE1_20846357_0_0 SS1_20846357_0_0 SS2_20846357_0_0 abbreviatedTo keratitis-ichthyosis-deafness,KID
AE1_20846357_2_0 SS1_20846357_2_0 SS2_20846357_2_0 abbreviatedTo Keratitis-ichthyosis-deafness,KID

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 170-180 HP_0008064 denotes ichthyosis
T2 181-189 HP_0000365 denotes deafness

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
20846357-0#24#35#gene2706 24-35 gene2706 denotes connexin 26
20846357-0#42#46#gene2706 42-46 gene2706 denotes GJB2
20846357-0#24#35#gene2706 24-35 gene2706 denotes connexin 26
20846357-0#42#46#gene2706 42-46 gene2706 denotes GJB2
20846357-0#133#146#diseaseC0265336 133-146 diseaseC0265336 denotes KID) syndrome
20846357-0#133#146#diseaseC3665333 133-146 diseaseC3665333 denotes KID) syndrome
20846357-0#133#146#diseaseC0265336 133-146 diseaseC0265336 denotes KID) syndrome
20846357-0#133#146#diseaseC3665333 133-146 diseaseC3665333 denotes KID) syndrome
20846357-0#102#111#diseaseC0022568 102-111 diseaseC0022568 denotes keratitis
24#35#gene2706133#146#diseaseC0265336 20846357-0#24#35#gene2706 20846357-0#133#146#diseaseC0265336 associated_with connexin 26,KID) syndrome
24#35#gene2706133#146#diseaseC3665333 20846357-0#24#35#gene2706 20846357-0#133#146#diseaseC3665333 associated_with connexin 26,KID) syndrome
24#35#gene2706133#146#diseaseC0265336 20846357-0#24#35#gene2706 20846357-0#133#146#diseaseC0265336 associated_with connexin 26,KID) syndrome
24#35#gene2706133#146#diseaseC3665333 20846357-0#24#35#gene2706 20846357-0#133#146#diseaseC3665333 associated_with connexin 26,KID) syndrome
24#35#gene2706102#111#diseaseC0022568 20846357-0#24#35#gene2706 20846357-0#102#111#diseaseC0022568 associated_with connexin 26,keratitis
42#46#gene2706133#146#diseaseC0265336 20846357-0#42#46#gene2706 20846357-0#133#146#diseaseC0265336 associated_with GJB2,KID) syndrome
42#46#gene2706133#146#diseaseC3665333 20846357-0#42#46#gene2706 20846357-0#133#146#diseaseC3665333 associated_with GJB2,KID) syndrome
42#46#gene2706133#146#diseaseC0265336 20846357-0#42#46#gene2706 20846357-0#133#146#diseaseC0265336 associated_with GJB2,KID) syndrome
42#46#gene2706133#146#diseaseC3665333 20846357-0#42#46#gene2706 20846357-0#133#146#diseaseC3665333 associated_with GJB2,KID) syndrome
42#46#gene2706102#111#diseaseC0022568 20846357-0#42#46#gene2706 20846357-0#102#111#diseaseC0022568 associated_with GJB2,keratitis
24#35#gene2706133#146#diseaseC0265336 20846357-0#24#35#gene2706 20846357-0#133#146#diseaseC0265336 associated_with connexin 26,KID) syndrome
24#35#gene2706133#146#diseaseC3665333 20846357-0#24#35#gene2706 20846357-0#133#146#diseaseC3665333 associated_with connexin 26,KID) syndrome
24#35#gene2706133#146#diseaseC0265336 20846357-0#24#35#gene2706 20846357-0#133#146#diseaseC0265336 associated_with connexin 26,KID) syndrome
24#35#gene2706133#146#diseaseC3665333 20846357-0#24#35#gene2706 20846357-0#133#146#diseaseC3665333 associated_with connexin 26,KID) syndrome
24#35#gene2706102#111#diseaseC0022568 20846357-0#24#35#gene2706 20846357-0#102#111#diseaseC0022568 associated_with connexin 26,keratitis
42#46#gene2706133#146#diseaseC0265336 20846357-0#42#46#gene2706 20846357-0#133#146#diseaseC0265336 associated_with GJB2,KID) syndrome
42#46#gene2706133#146#diseaseC3665333 20846357-0#42#46#gene2706 20846357-0#133#146#diseaseC3665333 associated_with GJB2,KID) syndrome
42#46#gene2706133#146#diseaseC0265336 20846357-0#42#46#gene2706 20846357-0#133#146#diseaseC0265336 associated_with GJB2,KID) syndrome
42#46#gene2706133#146#diseaseC3665333 20846357-0#42#46#gene2706 20846357-0#133#146#diseaseC3665333 associated_with GJB2,KID) syndrome
42#46#gene2706102#111#diseaseC0022568 20846357-0#42#46#gene2706 20846357-0#102#111#diseaseC0022568 associated_with GJB2,keratitis

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 676-681 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood
PD-UBERON-AE-B_T2 226-236 http://purl.obolibrary.org/obo/UBERON_0000924 denotes ectodermal
PD-UBERON-AE-B_T3 939-944 http://purl.obolibrary.org/obo/UBERON_0000403 denotes scalp
PD-UBERON-AE-B_T4 1008-1013 http://purl.obolibrary.org/obo/UBERON_0000403 denotes scalp
PD-UBERON-AE-B_T5 949-958 http://purl.obolibrary.org/obo/UBERON_0001702 denotes eyelashes
PD-UBERON-AE-B_T6 972-986 http://purl.obolibrary.org/obo/UBERON_0007108 denotes vernix caseosa

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 226-236 http://purl.obolibrary.org/obo/UBERON_0000924 denotes ectodermal
PD-UBERON-AE-B_T2 676-681 http://purl.obolibrary.org/obo/UBERON_0000178 denotes blood
PD-UBERON-AE-B_T3 939-944 http://purl.obolibrary.org/obo/UBERON_0000403 denotes scalp
PD-UBERON-AE-B_T4 1008-1013 http://purl.obolibrary.org/obo/UBERON_0000403 denotes scalp
PD-UBERON-AE-B_T5 949-958 http://purl.obolibrary.org/obo/UBERON_0001702 denotes eyelashes
PD-UBERON-AE-B_T6 972-986 http://purl.obolibrary.org/obo/UBERON_0007108 denotes vernix caseosa

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 151-169 HP:0000491 denotes KGROUND: Keratitis
AB2 170-180 HP:0008064 denotes ichthyosis
TI1 102-111 HP:0000491 denotes keratitis
TI2 112-122 HP:0008064 denotes ichthyosis
AB3 821-839 HP:0000365 denotes hearing impairment
AB4 855-867 HP:0001019 denotes erythroderma
AB5 897-921 HP:0000982 denotes palmoplantar keratoderma
AB6 923-931 HP:0001596 denotes alopecia
AB7 1155-1169 HP:0000962 denotes hyperkeratosis
AB8 1329-1342 HP:0000238 denotes hydrocephalus
AB9 1401-1411 HP:0001287 denotes meningitis
AB10 1491-1501 HP:0002090 denotes pneumoniae
AB11 1510-1529 HP:0002878 denotes respiratory failure

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 191-204 ORDO:477 denotes KID) syndrome
TI1 133-146 ORDO:477 denotes KID) syndrome
AB2 611-623 ORDO:477 denotes KID syndrome
AB3 1068-1080 ORDO:477 denotes KID syndrome
AB4 1936-1948 ORDO:477 denotes KID syndrome

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 374-384 ProteinMutation:p|SUB|D|50|N denotes p.Asp50Asn
T2 1712-1720 DNAMutation:c|SUB|C|263|T denotes c.263C>T
T3 1797-1807 ProteinMutation:p|SUB|A|88|V denotes p.Ala88Val
T4 1903-1911 DNAMutation:c|SUB|C|263|T denotes c.263C>T
T5 1913-1923 ProteinMutation:p|SUB|A|88|V denotes p.Ala88Val