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PubMed:18385794 JSONTXT

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test-210614

Id Subject Object Predicate Lexical cue proteinmutation
18385794_0 1824-1835 ProteinMutation denotes p.Ser157Ser rs35435463
18385794_1 1864-1876 ProteinMutation denotes p. Gln193Gln rs77677339
18385794_2 1942-1954 ProteinMutation denotes p. Asp291Asn rs77677339

PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
18385794_0 1824-1835 ProteinMutation denotes p.Ser157Ser rs35435463
18385794_1 1864-1876 ProteinMutation denotes p. Gln193Gln rs77677339
18385794_2 1942-1954 ProteinMutation denotes p. Asp291Asn rs77677339

PMID_GLOBAL

Id Subject Object Predicate Lexical cue mondo_id
T1 114-128 DiseaseOrPhenotypicFeature denotes microphthalmia 0021129
T2 233-247 DiseaseOrPhenotypicFeature denotes microphthalmia 0021129
T3 439-448 DiseaseOrPhenotypicFeature denotes sensitive 0000605
T4 2227-2241 DiseaseOrPhenotypicFeature denotes microphthalmia 0021129

LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 1119-1124 OrganismTaxon denotes codon NCBItxid:79338

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-129 Sentence denotes Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.
T2 130-138 Sentence denotes PURPOSE:
T3 139-248 Sentence denotes Mutations in the SOX2 and CHX10 genes have been reported in patients with anophthalmia and/or microphthalmia.
T4 249-414 Sentence denotes In this study, we evaluated 34 anophthalmic/microphthalmic patient DNA samples (two sets of siblings included) for mutations and sequence variants in SOX2 and CHX10.
T5 415-423 Sentence denotes METHODS:
T6 424-633 Sentence denotes Conformational sensitive gel electrophoresis (CSGE) was used for the initial SOX2 and CHX10 screening of 34 affected individuals (two sets of siblings), five unaffected family members, and 80 healthy controls.
T7 634-712 Sentence denotes Patient samples containing heteroduplexes were selected for sequence analysis.
T8 713-813 Sentence denotes Base pair changes in SOX2 and CHX10 were confirmed by sequencing bidirectionally in patient samples.
T9 814-822 Sentence denotes RESULTS:
T10 823-933 Sentence denotes Two novel heterozygous mutations and two sequence variants (one known) in SOX2 were identified in this cohort.
T11 934-956 Sentence denotes Mutation c.310 G>T (p.
T12 957-1125 Sentence denotes Glu104X), found in one patient, was in the region encoding the high mobility group (HMG) DNA-binding domain and resulted in a change from glutamic acid to a stop codon.
T13 1126-1225 Sentence denotes The second mutation, noted in two affected siblings, was a single nucleotide deletion c.549delC (p.
T14 1226-1363 Sentence denotes Pro184ArgfsX19) in the region encoding the activation domain, resulting in a frameshift and premature termination of the coding sequence.
T15 1364-1430 Sentence denotes The shortened protein products may result in the loss of function.
T16 1431-1546 Sentence denotes In addition, a novel nucleotide substitution c.*557G>A was identified in the 3'-untranslated region in one patient.
T17 1547-1636 Sentence denotes The relationship between the nucleotide change and the protein function is indeterminate.
T18 1637-1748 Sentence denotes A known single nucleotide polymorphism (c. *469 C>A, SNP rs11915160) was also detected in 2 of the 34 patients.
T19 1749-1866 Sentence denotes Screening of CHX10 identified two synonymous sequence variants, c.471 C>T (p.Ser157Ser, rs35435463) and c.579 G>A (p.
T20 1867-1944 Sentence denotes Gln193Gln, novel SNP), and one non-synonymous sequence variant, c.871 G>A (p.
T21 1945-1967 Sentence denotes Asp291Asn, novel SNP).
T22 1968-2063 Sentence denotes The non-synonymous polymorphism was also present in healthy controls, suggesting non-causality.
T23 2064-2076 Sentence denotes CONCLUSIONS:
T24 2077-2138 Sentence denotes These results support the role of SOX2 in ocular development.
T25 2139-2196 Sentence denotes Loss of SOX2 function results in severe eye malformation.
T26 2197-2277 Sentence denotes CHX10 was not implicated with microphthalmia/anophthalmia in our patient cohort.

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
4873 63-67 GeneOrGeneProduct denotes SOX2 NCBIGene:6657
4874 72-77 GeneOrGeneProduct denotes CHX10 NCBIGene:338917
4875 87-95 OrganismTaxon denotes patients NCBITaxon:9606
4876 101-113 DiseaseOrPhenotypicFeature denotes anophthalmia MESH:D000853
4877 114-128 DiseaseOrPhenotypicFeature denotes microphthalmia MESH:D008850
4878 156-160 GeneOrGeneProduct denotes SOX2 NCBIGene:6657
4879 165-170 GeneOrGeneProduct denotes CHX10 NCBIGene:338917
4880 199-207 OrganismTaxon denotes patients NCBITaxon:9606
4881 213-225 DiseaseOrPhenotypicFeature denotes anophthalmia MESH:D000853
4882 233-247 DiseaseOrPhenotypicFeature denotes microphthalmia MESH:D008850
4883 280-292 DiseaseOrPhenotypicFeature denotes anophthalmic MESH:D000853
4884 293-307 DiseaseOrPhenotypicFeature denotes microphthalmic MESH:D008850
4885 308-315 OrganismTaxon denotes patient NCBITaxon:9606
4886 399-403 GeneOrGeneProduct denotes SOX2 NCBIGene:6657
4887 408-413 GeneOrGeneProduct denotes CHX10 NCBIGene:338917
4888 501-505 GeneOrGeneProduct denotes SOX2 NCBIGene:6657
4889 510-515 GeneOrGeneProduct denotes CHX10 NCBIGene:338917
4890 634-641 OrganismTaxon denotes Patient NCBITaxon:9606
4891 734-738 GeneOrGeneProduct denotes SOX2 NCBIGene:6657
4892 743-748 GeneOrGeneProduct denotes CHX10 NCBIGene:338917
4893 797-804 OrganismTaxon denotes patient NCBITaxon:9606
4894 897-901 GeneOrGeneProduct denotes SOX2 NCBIGene:6657
4895 943-952 SequenceVariant denotes c.310 G>T c|SUB|G|310|T
4896 954-964 SequenceVariant denotes p. Glu104X p|SUB|E|104|X
4897 980-987 OrganismTaxon denotes patient NCBITaxon:9606
4898 1095-1124 SequenceVariant denotes glutamic acid to a stop codon p|SUB|E||X
4899 1212-1221 SequenceVariant denotes c.549delC DBSNP:rs587776776
4900 1223-1240 SequenceVariant denotes p. Pro184ArgfsX19 DBSNP:rs587776776
4901 1476-1485 SequenceVariant denotes c.*557G>A DBSNP:rs77677339
4902 1538-1545 OrganismTaxon denotes patient NCBITaxon:9606
4903 1677-1688 SequenceVariant denotes c. *469 C>A DBSNP:rs11915160
4904 1694-1704 SequenceVariant denotes rs11915160 DBSNP:rs11915160
4905 1739-1747 OrganismTaxon denotes patients NCBITaxon:9606
4906 1762-1767 GeneOrGeneProduct denotes CHX10 NCBIGene:338917
4907 1813-1822 SequenceVariant denotes c.471 C>T DBSNP:rs35435463
4908 1824-1835 SequenceVariant denotes p.Ser157Ser DBSNP:rs35435463
4909 1837-1847 SequenceVariant denotes rs35435463 DBSNP:rs35435463
4910 1853-1862 SequenceVariant denotes c.579 G>A DBSNP:rs182972044
4911 1864-1876 SequenceVariant denotes p. Gln193Gln DBSNP:rs182972044
4912 1931-1940 SequenceVariant denotes c.871 G>A DBSNP:rs75395981
4913 1942-1954 SequenceVariant denotes p. Asp291Asn DBSNP:rs75395981
4914 2111-2115 GeneOrGeneProduct denotes SOX2 NCBIGene:6657
4915 2147-2151 GeneOrGeneProduct denotes SOX2 NCBIGene:6657
4916 2179-2195 DiseaseOrPhenotypicFeature denotes eye malformation MESH:D005124
4917 2197-2202 GeneOrGeneProduct denotes CHX10 NCBIGene:338917
4918 2227-2241 DiseaseOrPhenotypicFeature denotes microphthalmia MESH:D008850
4919 2242-2254 DiseaseOrPhenotypicFeature denotes anophthalmia MESH:D000853
4920 2262-2269 OrganismTaxon denotes patient NCBITaxon:9606

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 114-128 DiseaseOrPhenotypicFeature denotes microphthalmia 0021129
T2 233-247 DiseaseOrPhenotypicFeature denotes microphthalmia 0021129
T3 2227-2241 DiseaseOrPhenotypicFeature denotes microphthalmia 0021129

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 943-952 SequenceVariant denotes c.310 G>T
T2 1212-1221 SequenceVariant denotes c.549delC
T3 1226-1235 SequenceVariant denotes Pro184Arg
T4 1476-1485 SequenceVariant denotes c.*557G>A
T5 1694-1704 SequenceVariant denotes rs11915160
T6 1813-1822 SequenceVariant denotes c.471 C>T
T7 1824-1835 SequenceVariant denotes p.Ser157Ser
T8 1837-1847 SequenceVariant denotes rs35435463
T9 1853-1862 SequenceVariant denotes c.579 G>A
T10 1867-1876 SequenceVariant denotes Gln193Gln
T11 1931-1940 SequenceVariant denotes c.871 G>A
T12 1945-1954 SequenceVariant denotes Asp291Asn

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 87-95 OrganismTaxon denotes patients
T2 199-207 OrganismTaxon denotes patients
T3 308-315 OrganismTaxon denotes patient
T4 634-641 OrganismTaxon denotes Patient
T5 797-804 OrganismTaxon denotes patient
T6 980-987 OrganismTaxon denotes patient
T7 1538-1545 OrganismTaxon denotes patient
T8 1739-1747 OrganismTaxon denotes patients
T9 2262-2269 OrganismTaxon denotes patient

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 18-23 GeneOrGeneProduct denotes novel
T2 63-67 GeneOrGeneProduct denotes SOX2
T3 72-77 GeneOrGeneProduct denotes CHX10
T4 114-128 GeneOrGeneProduct denotes microphthalmia
T5 156-160 GeneOrGeneProduct denotes SOX2
T6 165-170 GeneOrGeneProduct denotes CHX10
T7 233-247 GeneOrGeneProduct denotes microphthalmia
T8 399-403 GeneOrGeneProduct denotes SOX2
T9 408-413 GeneOrGeneProduct denotes CHX10
T10 501-505 GeneOrGeneProduct denotes SOX2
T11 510-515 GeneOrGeneProduct denotes CHX10
T12 734-738 GeneOrGeneProduct denotes SOX2
T13 743-748 GeneOrGeneProduct denotes CHX10
T14 827-832 GeneOrGeneProduct denotes novel
T15 897-901 GeneOrGeneProduct denotes SOX2
T16 1020-1039 GeneOrGeneProduct denotes high mobility group
T17 1041-1044 GeneOrGeneProduct denotes HMG
T18 1046-1064 GeneOrGeneProduct denotes DNA-binding domain
T19 1104-1108 GeneOrGeneProduct denotes acid
T20 1114-1118 GeneOrGeneProduct denotes stop
T21 1378-1385 GeneOrGeneProduct denotes protein
T22 1446-1451 GeneOrGeneProduct denotes novel
T23 1602-1609 GeneOrGeneProduct denotes protein
T24 1762-1767 GeneOrGeneProduct denotes CHX10
T25 1878-1883 GeneOrGeneProduct denotes novel
T26 1956-1961 GeneOrGeneProduct denotes novel
T27 2111-2115 GeneOrGeneProduct denotes SOX2
T28 2147-2151 GeneOrGeneProduct denotes SOX2
T29 2197-2202 GeneOrGeneProduct denotes CHX10
T30 2227-2241 GeneOrGeneProduct denotes microphthalmia

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 18-23 GeneOrGeneProduct denotes novel
T2 24-33 GeneOrGeneProduct denotes mutations
T3 63-67 GeneOrGeneProduct denotes SOX2
T4 72-77 GeneOrGeneProduct denotes CHX10
T5 114-128 GeneOrGeneProduct denotes microphthalmia
T6 139-148 GeneOrGeneProduct denotes Mutations
T7 156-160 GeneOrGeneProduct denotes SOX2
T8 165-170 GeneOrGeneProduct denotes CHX10
T9 233-247 GeneOrGeneProduct denotes microphthalmia
T10 364-373 GeneOrGeneProduct denotes mutations
T11 399-403 GeneOrGeneProduct denotes SOX2
T12 408-413 GeneOrGeneProduct denotes CHX10
T13 415-422 GeneOrGeneProduct denotes METHODS
T14 449-452 GeneOrGeneProduct denotes gel
T15 470-474 GeneOrGeneProduct denotes CSGE
T16 493-500 GeneOrGeneProduct denotes initial
T17 501-505 GeneOrGeneProduct denotes SOX2
T18 510-515 GeneOrGeneProduct denotes CHX10
T19 713-717 GeneOrGeneProduct denotes Base
T20 718-722 GeneOrGeneProduct denotes pair
T21 734-738 GeneOrGeneProduct denotes SOX2
T22 743-748 GeneOrGeneProduct denotes CHX10
T23 827-832 GeneOrGeneProduct denotes novel
T24 846-855 GeneOrGeneProduct denotes mutations
T25 897-901 GeneOrGeneProduct denotes SOX2
T26 934-942 GeneOrGeneProduct denotes Mutation
T27 1020-1039 GeneOrGeneProduct denotes high mobility group
T28 1041-1044 GeneOrGeneProduct denotes HMG
T29 1046-1064 GeneOrGeneProduct denotes DNA-binding domain
T30 1078-1082 GeneOrGeneProduct denotes in a
T31 1095-1103 GeneOrGeneProduct denotes glutamic
T32 1104-1108 GeneOrGeneProduct denotes acid
T33 1114-1118 GeneOrGeneProduct denotes stop
T34 1137-1145 GeneOrGeneProduct denotes mutation
T35 1269-1279 GeneOrGeneProduct denotes activation
T36 1298-1302 GeneOrGeneProduct denotes in a
T37 1378-1385 GeneOrGeneProduct denotes protein
T38 1386-1394 GeneOrGeneProduct denotes products
T39 1446-1451 GeneOrGeneProduct denotes novel
T40 1602-1609 GeneOrGeneProduct denotes protein
T41 1724-1728 GeneOrGeneProduct denotes in 2
T42 1762-1767 GeneOrGeneProduct denotes CHX10
T43 1878-1883 GeneOrGeneProduct denotes novel
T44 1956-1961 GeneOrGeneProduct denotes novel
T45 2111-2115 GeneOrGeneProduct denotes SOX2
T46 2147-2151 GeneOrGeneProduct denotes SOX2
T47 2179-2182 GeneOrGeneProduct denotes eye
T48 2183-2195 GeneOrGeneProduct denotes malformation
T49 2197-2202 GeneOrGeneProduct denotes CHX10
T50 2227-2241 GeneOrGeneProduct denotes microphthalmia

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 101-113 DiseaseOrPhenotypicFeature denotes anophthalmia D000853
T2 114-128 DiseaseOrPhenotypicFeature denotes microphthalmia D008850
T3 213-225 DiseaseOrPhenotypicFeature denotes anophthalmia D000853
T4 233-247 DiseaseOrPhenotypicFeature denotes microphthalmia D008850
T5 2227-2241 DiseaseOrPhenotypicFeature denotes microphthalmia D008850
T6 2242-2254 DiseaseOrPhenotypicFeature denotes anophthalmia D000853

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 63-67 GeneOrGeneProduct denotes SOX2
T2 72-77 GeneOrGeneProduct denotes CHX10
T3 156-160 GeneOrGeneProduct denotes SOX2
T4 165-170 GeneOrGeneProduct denotes CHX10
T5 399-403 GeneOrGeneProduct denotes SOX2
T6 408-413 GeneOrGeneProduct denotes CHX10
T7 501-505 GeneOrGeneProduct denotes SOX2
T8 510-515 GeneOrGeneProduct denotes CHX10
T9 734-738 GeneOrGeneProduct denotes SOX2
T10 743-748 GeneOrGeneProduct denotes CHX10
T11 897-901 GeneOrGeneProduct denotes SOX2
T12 1020-1039 GeneOrGeneProduct denotes high mobility group
T13 1041-1044 GeneOrGeneProduct denotes HMG
T14 1602-1618 GeneOrGeneProduct denotes protein function
T15 1762-1767 GeneOrGeneProduct denotes CHX10
T16 2111-2115 GeneOrGeneProduct denotes SOX2
T17 2147-2151 GeneOrGeneProduct denotes SOX2
T18 2197-2202 GeneOrGeneProduct denotes CHX10

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 114-128 DiseaseOrPhenotypicFeature denotes microphthalmia 0021129
T2 233-247 DiseaseOrPhenotypicFeature denotes microphthalmia 0021129
T3 439-448 DiseaseOrPhenotypicFeature denotes sensitive 0000605
T4 2227-2241 DiseaseOrPhenotypicFeature denotes microphthalmia 0021129

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 101-113 DiseaseOrPhenotypicFeature denotes anophthalmia D000853
T2 114-128 DiseaseOrPhenotypicFeature denotes microphthalmia D008850
T3 213-225 DiseaseOrPhenotypicFeature denotes anophthalmia D000853
T4 233-247 DiseaseOrPhenotypicFeature denotes microphthalmia D008850
T5 280-292 DiseaseOrPhenotypicFeature denotes anophthalmic DISEASE
T6 293-307 DiseaseOrPhenotypicFeature denotes microphthalmic DISEASE
T7 2179-2195 DiseaseOrPhenotypicFeature denotes eye malformation DISEASE
T8 2227-2241 DiseaseOrPhenotypicFeature denotes microphthalmia D008850
T9 2242-2254 DiseaseOrPhenotypicFeature denotes anophthalmia D000853

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 101-113 DiseaseOrPhenotypicFeature denotes anophthalmia D000853
T2 114-128 DiseaseOrPhenotypicFeature denotes microphthalmia D008850
T3 213-225 DiseaseOrPhenotypicFeature denotes anophthalmia D000853
T4 233-247 DiseaseOrPhenotypicFeature denotes microphthalmia D008850
T5 280-292 DiseaseOrPhenotypicFeature denotes anophthalmic DISEASE
T6 293-307 DiseaseOrPhenotypicFeature denotes microphthalmic DISEASE
T7 2179-2195 DiseaseOrPhenotypicFeature denotes eye malformation DISEASE
T8 2227-2241 DiseaseOrPhenotypicFeature denotes microphthalmia D008850
T9 2242-2254 DiseaseOrPhenotypicFeature denotes anophthalmia D000853

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 713-717 ChemicalEntity denotes Base http://purl.obolibrary.org/obo/CHEBI_18282
T2 1095-1108 ChemicalEntity denotes glutamic acid http://purl.obolibrary.org/obo/CHEBI_18237|http://purl.obolibrary.org/obo/CHEBI_16015

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T2 1095-1108 ChemicalEntity denotes glutamic acid http://purl.obolibrary.org/obo/CHEBI_16015|http://purl.obolibrary.org/obo/CHEBI_18237
T1 713-717 ChemicalEntity denotes Base http://purl.obolibrary.org/obo/CHEBI_18282
T18 2197-2202 GeneOrGeneProduct denotes CHX10
T17 2147-2151 GeneOrGeneProduct denotes SOX2
T16 2111-2115 GeneOrGeneProduct denotes SOX2
T15 1762-1767 GeneOrGeneProduct denotes CHX10
T14 1602-1618 GeneOrGeneProduct denotes protein function
T13 1041-1044 GeneOrGeneProduct denotes HMG
T12 1020-1039 GeneOrGeneProduct denotes high mobility group
T11 897-901 GeneOrGeneProduct denotes SOX2
T10 743-748 GeneOrGeneProduct denotes CHX10
T9 734-738 GeneOrGeneProduct denotes SOX2
T8 510-515 GeneOrGeneProduct denotes CHX10
T7 501-505 GeneOrGeneProduct denotes SOX2
T6 408-413 GeneOrGeneProduct denotes CHX10
T5 399-403 GeneOrGeneProduct denotes SOX2
T4 165-170 GeneOrGeneProduct denotes CHX10
T3 156-160 GeneOrGeneProduct denotes SOX2
T25444 72-77 GeneOrGeneProduct denotes CHX10
T99114 63-67 GeneOrGeneProduct denotes SOX2
T40827 2242-2254 DiseaseOrPhenotypicFeature denotes anophthalmia D000853
T88647 2227-2241 DiseaseOrPhenotypicFeature denotes microphthalmia D008850
T740 2179-2195 DiseaseOrPhenotypicFeature denotes eye malformation DISEASE
T31742 293-307 DiseaseOrPhenotypicFeature denotes microphthalmic DISEASE
T79227 280-292 DiseaseOrPhenotypicFeature denotes anophthalmic DISEASE
T98451 233-247 DiseaseOrPhenotypicFeature denotes microphthalmia D008850
T30119 213-225 DiseaseOrPhenotypicFeature denotes anophthalmia D000853
T8193 114-128 DiseaseOrPhenotypicFeature denotes microphthalmia D008850
T56294 101-113 DiseaseOrPhenotypicFeature denotes anophthalmia D000853
T11894 2262-2269 OrganismTaxon denotes patient
T57366 1739-1747 OrganismTaxon denotes patients
T83381 1538-1545 OrganismTaxon denotes patient
T60883 980-987 OrganismTaxon denotes patient
T10034 797-804 OrganismTaxon denotes patient
T354 634-641 OrganismTaxon denotes Patient
T67817 308-315 OrganismTaxon denotes patient
T89067 199-207 OrganismTaxon denotes patients
T16555 87-95 OrganismTaxon denotes patients
T84342 1945-1954 SequenceVariant denotes Asp291Asn
T24304 1931-1940 SequenceVariant denotes c.871 G>A
T55954 1867-1876 SequenceVariant denotes Gln193Gln
T91987 1853-1862 SequenceVariant denotes c.579 G>A
T29079 1837-1847 SequenceVariant denotes rs35435463
T47916 1824-1835 SequenceVariant denotes p.Ser157Ser
T15455 1813-1822 SequenceVariant denotes c.471 C>T
T44793 1694-1704 SequenceVariant denotes rs11915160
T85445 1476-1485 SequenceVariant denotes c.*557G>A
T26635 1226-1235 SequenceVariant denotes Pro184Arg
T13125 1212-1221 SequenceVariant denotes c.549delC
T83554 943-952 SequenceVariant denotes c.310 G>T

DisGeNET

Id Subject Object Predicate Lexical cue
T0 2147-2151 gene:6657 denotes SOX2
T1 2179-2195 disease:C0015393 denotes eye malformation
T2 2197-2202 gene:338917 denotes CHX10
T3 2227-2241 disease:C0026010 denotes microphthalmia
T4 2197-2202 gene:338917 denotes CHX10
T5 2242-2254 disease:C0003119 denotes anophthalmia
R1 T0 T1 associated_with SOX2,eye malformation
R2 T2 T3 associated_with CHX10,microphthalmia
R3 T4 T5 associated_with CHX10,anophthalmia

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
18385794-0#63#67#gene6657 63-67 gene6657 denotes SOX2
18385794-0#101#113#diseaseC0003119 101-113 diseaseC0003119 denotes anophthalmia
63#67#gene6657101#113#diseaseC0003119 18385794-0#63#67#gene6657 18385794-0#101#113#diseaseC0003119 associated_with SOX2,anophthalmia

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 943-952 DNAMutation:c|SUB|G|310|T denotes c.310 G>T
T2 954-964 ProteinMutation:p|SUB|E|104|X denotes p. Glu104X
T3 1212-1221 DNAMutation:c|DEL|549|C denotes c.549delC
T4 1223-1240 ProteinMutation:p|FS|P|184|R|19 denotes p. Pro184ArgfsX19
T5 1476-1485 DNAMutation:c|SUB|G|*557|A denotes c.*557G>A
T6 1677-1688 DNAMutation:c|SUB|C|*469|A denotes c. *469 C>A
T7 1694-1704 SNP:rs11915160 denotes rs11915160
T8 1813-1822 DNAMutation:c|SUB|C|471|T denotes c.471 C>T
T9 1824-1835 ProteinMutation:p|SUB|S|157|S denotes p.Ser157Ser
T10 1837-1847 SNP:rs35435463 denotes rs35435463
T11 1853-1862 DNAMutation:c|SUB|G|579|A denotes c.579 G>A
T12 1864-1876 ProteinMutation:p|SUB|Q|193|Q denotes p. Gln193Gln
T13 1931-1940 DNAMutation:c|SUB|G|871|A denotes c.871 G>A
T14 1942-1954 ProteinMutation:p|SUB|D|291|N denotes p. Asp291Asn