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PubMed:20806042 JSONTXT

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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
20806042_0 860-867 ProteinMutation denotes R198W). rs375284574
20806042_1 823-858 ProteinMutation denotes ginine to tryptophan at codon 198 ( rs375284574
20806042_2 1075-1082 ProteinMutation denotes 98W mut rs375284574

TEST-DiseaseOrPhenotypicFeature

Id Subject Object Predicate Lexical cue #label
T1 44-73 DiseaseOrPhenotypicFeature denotes cataract-microcornea syndrome C538287
T2 133-147 DiseaseOrPhenotypicFeature denotes genetic defect DISEASE
T3 229-258 DiseaseOrPhenotypicFeature denotes cataract-microcornea syndrome C538287
T4 260-264 DiseaseOrPhenotypicFeature denotes CCMC C538287
T5 1101-1105 DiseaseOrPhenotypicFeature denotes CCMC C538287
T6 1186-1194 DiseaseOrPhenotypicFeature denotes cataract D002386

TEST-ChemicalEntity

Id Subject Object Predicate Lexical cue ID:
T1 821-829 ChemicalEntity denotes arginine http://purl.obolibrary.org/obo/CHEBI_32696|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_16467
T4 833-843 ChemicalEntity denotes tryptophan http://purl.obolibrary.org/obo/CHEBI_57912|http://purl.obolibrary.org/obo/CHEBI_57719|http://purl.obolibrary.org/obo/CHEBI_27897|http://purl.obolibrary.org/obo/CHEBI_16828

TEST-OrganismTaxon

Id Subject Object Predicate Lexical cue
T1 1290-1294 OrganismTaxon denotes lens

Test-SequenceVariant

Id Subject Object Predicate Lexical cue
T1 649-653 SequenceVariant denotes 592C
T2 858-865 SequenceVariant denotes p.R198W
T3 1071-1078 SequenceVariant denotes p.R198W

Test-GeneOrGeneProduct

Id Subject Object Predicate Lexical cue
T1 20-24 GeneOrGeneProduct denotes GJA8
T2 33-52 GeneOrGeneProduct denotes congenital cataract
T3 218-237 GeneOrGeneProduct denotes congenital cataract
T4 675-704 GeneOrGeneProduct denotes gap junction protein, alpha 8
T5 706-710 GeneOrGeneProduct denotes GJA8
T6 1091-1095 GeneOrGeneProduct denotes GJA8
T7 1151-1155 GeneOrGeneProduct denotes GJA8
T8 1175-1194 GeneOrGeneProduct denotes congenital cataract

Test-merged-2

Id Subject Object Predicate Lexical cue #label ID:
T20910 649-653 SequenceVariant denotes 592C
T2953 858-865 SequenceVariant denotes p.R198W
T61400 1071-1078 SequenceVariant denotes p.R198W
T20097 821-829 ChemicalEntity denotes arginine http://purl.obolibrary.org/obo/CHEBI_32696|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_16467
T4811 833-843 ChemicalEntity denotes tryptophan http://purl.obolibrary.org/obo/CHEBI_57912|http://purl.obolibrary.org/obo/CHEBI_57719|http://purl.obolibrary.org/obo/CHEBI_27897|http://purl.obolibrary.org/obo/CHEBI_16828
T22906 20-24 GeneOrGeneProduct denotes GJA8
T4430 33-52 GeneOrGeneProduct denotes congenital cataract
T67239 218-237 GeneOrGeneProduct denotes congenital cataract
T35887 675-704 GeneOrGeneProduct denotes gap junction protein, alpha 8
T13111 706-710 GeneOrGeneProduct denotes GJA8
T62370 1091-1095 GeneOrGeneProduct denotes GJA8
T7 1151-1155 GeneOrGeneProduct denotes GJA8
T8 1175-1194 GeneOrGeneProduct denotes congenital cataract
T61051 1290-1294 OrganismTaxon denotes lens
T1 44-73 DiseaseOrPhenotypicFeature denotes cataract-microcornea syndrome C538287
T2 133-147 DiseaseOrPhenotypicFeature denotes genetic defect DISEASE
T3 229-258 DiseaseOrPhenotypicFeature denotes cataract-microcornea syndrome C538287
T4 260-264 DiseaseOrPhenotypicFeature denotes CCMC C538287
T5 1101-1105 DiseaseOrPhenotypicFeature denotes CCMC C538287
T6 1186-1194 DiseaseOrPhenotypicFeature denotes cataract D002386

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1151-1155 gene:2703 denotes GJA8
T1 1175-1194 disease:C0009691 denotes congenital cataract
T2 1151-1155 gene:2703 denotes GJA8
T3 1199-1210 disease:C0266544 denotes microcornea
R1 T0 T1 associated_with GJA8,congenital cataract
R2 T2 T3 associated_with GJA8,microcornea

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 199-217 HP_0000006 denotes autosomal dominant
T2 218-237 HP_0000519 denotes congenital cataract
T3 229-237 HP_0000518 denotes cataract
T4 238-249 HP_0000482 denotes microcornea

Allie

Id Subject Object Predicate Lexical cue
SS1_20806042_2_0 218-258 expanded denotes congenital cataract-microcornea syndrome
SS2_20806042_2_0 260-264 abbr denotes CCMC
SS1_20806042_5_0 448-473 expanded denotes polymerase chain reaction
SS2_20806042_5_0 475-478 abbr denotes PCR
SS1_20806042_7_0 675-704 expanded denotes gap junction protein, alpha 8
SS2_20806042_7_0 706-710 abbr denotes GJA8
AE1_20806042_2_0 SS1_20806042_2_0 SS2_20806042_2_0 abbreviatedTo congenital cataract-microcornea syndrome,CCMC
AE1_20806042_5_0 SS1_20806042_5_0 SS2_20806042_5_0 abbreviatedTo polymerase chain reaction,PCR
AE1_20806042_7_0 SS1_20806042_7_0 SS2_20806042_7_0 abbreviatedTo "gap junction protein, alpha 8",GJA8

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
20806042-0#20#24#gene2703 20-24 gene2703 denotes GJA8
20806042-0#33#73#diseaseC0009691 33-73 diseaseC0009691 denotes congenital cataract-microcornea syndrome
20806042-0#33#73#diseaseC1861829 33-73 diseaseC1861829 denotes congenital cataract-microcornea syndrome
20#24#gene270333#73#diseaseC0009691 20806042-0#20#24#gene2703 20806042-0#33#73#diseaseC0009691 associated_with GJA8,congenital cataract-microcornea syndrome
20#24#gene270333#73#diseaseC1861829 20806042-0#20#24#gene2703 20806042-0#33#73#diseaseC1861829 associated_with GJA8,congenital cataract-microcornea syndrome

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 647-657 DNAMutation:c|SUB|C|592|T denotes c.592C-->T
T2 858-865 ProteinMutation:p|SUB|R|198|W denotes p.R198W
T3 1071-1078 ProteinMutation:p|SUB|R|198|W denotes p.R198W