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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

biored-valid-deepseek-nr-ng

Id Subject Object Predicate Lexical cue
T1 63-67 GeneOrGeneProduct denotes SOX2
T2 72-77 GeneOrGeneProduct denotes CHX10
T3 101-128 DiseaseOrPhenotypicFeature denotes anophthalmia/microphthalmia
T4 156-160 GeneOrGeneProduct denotes SOX2
T5 165-170 GeneOrGeneProduct denotes CHX10
T6 213-247 DiseaseOrPhenotypicFeature denotes anophthalmia and/or microphthalmia
T7 280-307 DiseaseOrPhenotypicFeature denotes anophthalmic/microphthalmic
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 833-855 SequenceVariant denotes heterozygous mutations
T15 864-881 SequenceVariant denotes sequence variants
T16 897-901 GeneOrGeneProduct denotes SOX2
T17 943-952 SequenceVariant denotes c.310 G>T
T18 954-964 SequenceVariant denotes p. Glu104X
T19 1212-1221 SequenceVariant denotes c.549delC
T20 1223-1240 SequenceVariant denotes p. Pro184ArgfsX19
T21 1476-1485 SequenceVariant denotes c.*557G>A
T22 1677-1704 SequenceVariant denotes c. *469 C>A, SNP rs11915160
T23 1762-1767 GeneOrGeneProduct denotes CHX10
T24 1813-1822 SequenceVariant denotes c.471 C>T
T25 1824-1847 SequenceVariant denotes p.Ser157Ser, rs35435463
T26 1853-1862 SequenceVariant denotes c.579 G>A
T27 1864-1876 SequenceVariant denotes p. Gln193Gln
T28 1931-1940 SequenceVariant denotes c.871 G>A
T29 1942-1965 SequenceVariant denotes p. Asp291Asn, novel SNP
T30 2227-2254 DiseaseOrPhenotypicFeature denotes microphthalmia/anophthalmia

biored-valid

Id Subject Object Predicate Lexical cue
T1 63-67 GeneOrGeneProduct denotes SOX2
T2 72-77 GeneOrGeneProduct denotes CHX10
T3 87-95 OrganismTaxon denotes patients
T4 101-113 DiseaseOrPhenotypicFeature denotes anophthalmia
T5 114-128 DiseaseOrPhenotypicFeature denotes microphthalmia
T6 156-160 GeneOrGeneProduct denotes SOX2
T7 165-170 GeneOrGeneProduct denotes CHX10
T8 199-207 OrganismTaxon denotes patients
T9 213-225 DiseaseOrPhenotypicFeature denotes anophthalmia
T10 233-247 DiseaseOrPhenotypicFeature denotes microphthalmia
T11 280-292 DiseaseOrPhenotypicFeature denotes anophthalmic
T12 293-307 DiseaseOrPhenotypicFeature denotes microphthalmic
T13 308-315 OrganismTaxon denotes patient
T14 399-403 GeneOrGeneProduct denotes SOX2
T15 408-413 GeneOrGeneProduct denotes CHX10
T16 501-505 GeneOrGeneProduct denotes SOX2
T17 510-515 GeneOrGeneProduct denotes CHX10
T18 634-641 OrganismTaxon denotes Patient
T19 734-738 GeneOrGeneProduct denotes SOX2
T20 743-748 GeneOrGeneProduct denotes CHX10
T21 797-804 OrganismTaxon denotes patient
T22 897-901 GeneOrGeneProduct denotes SOX2
T23 943-952 SequenceVariant denotes c.310 G>T
T24 954-964 SequenceVariant denotes p. Glu104X
T25 980-987 OrganismTaxon denotes patient
T26 1095-1124 SequenceVariant denotes glutamic acid to a stop codon
T27 1212-1221 SequenceVariant denotes c.549delC
T28 1223-1240 SequenceVariant denotes p. Pro184ArgfsX19
T29 1476-1485 SequenceVariant denotes c.*557G>A
T30 1538-1545 OrganismTaxon denotes patient
T31 1677-1688 SequenceVariant denotes c. *469 C>A
T32 1694-1704 SequenceVariant denotes rs11915160
T33 1739-1747 OrganismTaxon denotes patients
T34 1762-1767 GeneOrGeneProduct denotes CHX10
T35 1813-1822 SequenceVariant denotes c.471 C>T
T36 1824-1835 SequenceVariant denotes p.Ser157Ser
T37 1837-1847 SequenceVariant denotes rs35435463
T38 1853-1862 SequenceVariant denotes c.579 G>A
T39 1864-1876 SequenceVariant denotes p. Gln193Gln
T40 1931-1940 SequenceVariant denotes c.871 G>A
T41 1942-1954 SequenceVariant denotes p. Asp291Asn
T42 2111-2115 GeneOrGeneProduct denotes SOX2
T43 2147-2151 GeneOrGeneProduct denotes SOX2
T44 2179-2195 DiseaseOrPhenotypicFeature denotes eye malformation
T45 2197-2202 GeneOrGeneProduct denotes CHX10
T46 2227-2241 DiseaseOrPhenotypicFeature denotes microphthalmia
T47 2242-2254 DiseaseOrPhenotypicFeature denotes anophthalmia
T48 2262-2269 OrganismTaxon denotes patient

biored-valid-deepseek-nr-g

Id Subject Object Predicate Lexical cue
T1 63-67 GeneOrGeneProduct denotes SOX2
T2 72-77 GeneOrGeneProduct denotes CHX10
T3 101-128 DiseaseOrPhenotypicFeature denotes anophthalmia/microphthalmia
T4 156-160 GeneOrGeneProduct denotes SOX2
T5 165-170 GeneOrGeneProduct denotes CHX10
T6 213-247 DiseaseOrPhenotypicFeature denotes anophthalmia and/or microphthalmia
T7 280-307 DiseaseOrPhenotypicFeature denotes anophthalmic/microphthalmic
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 897-901 GeneOrGeneProduct denotes SOX2
T15 943-965 SequenceVariant denotes c.310 G>T (p. Glu104X)
T16 1041-1044 GeneOrGeneProduct denotes HMG
T17 1212-1241 SequenceVariant denotes c.549delC (p. Pro184ArgfsX19)
T18 1476-1485 SequenceVariant denotes c.*557G>A
T19 1677-1704 SequenceVariant denotes c. *469 C>A, SNP rs11915160
T20 1813-1848 SequenceVariant denotes c.471 C>T (p.Ser157Ser, rs35435463)
T21 2172-2195 DiseaseOrPhenotypicFeature denotes severe eye malformation
T22 2227-2254 DiseaseOrPhenotypicFeature denotes microphthalmia/anophthalmia

biored-valid-deepseek-r-ng

Id Subject Object Predicate Lexical cue
T1 63-67 GeneOrGeneProduct denotes SOX2
T2 72-77 GeneOrGeneProduct denotes CHX10
T3 101-113 DiseaseOrPhenotypicFeature denotes anophthalmia
T4 114-128 DiseaseOrPhenotypicFeature denotes microphthalmia
T5 156-160 GeneOrGeneProduct denotes SOX2
T6 165-170 GeneOrGeneProduct denotes CHX10
T7 213-225 DiseaseOrPhenotypicFeature denotes anophthalmia
T8 233-247 DiseaseOrPhenotypicFeature denotes microphthalmia
T9 280-292 DiseaseOrPhenotypicFeature denotes anophthalmic
T10 293-307 DiseaseOrPhenotypicFeature denotes microphthalmic
T11 734-738 GeneOrGeneProduct denotes SOX2
T12 743-748 GeneOrGeneProduct denotes CHX10
T13 943-952 SequenceVariant denotes c.310 G>T
T14 954-964 SequenceVariant denotes p. Glu104X
T15 1095-1108 ChemicalEntity denotes glutamic acid
T16 1212-1221 SequenceVariant denotes c.549delC
T17 1223-1240 SequenceVariant denotes p. Pro184ArgfsX19
T18 1476-1485 SequenceVariant denotes c.*557G>A
T19 1677-1688 SequenceVariant denotes c. *469 C>A
T20 1813-1822 SequenceVariant denotes c.471 C>T
T21 1824-1835 SequenceVariant denotes p.Ser157Ser
T22 1853-1862 SequenceVariant denotes c.579 G>A
T23 1864-1876 SequenceVariant denotes p. Gln193Gln
T24 1931-1940 SequenceVariant denotes c.871 G>A
T25 1942-1954 SequenceVariant denotes p. Asp291Asn
T26 2179-2195 DiseaseOrPhenotypicFeature denotes eye malformation
T27 2227-2254 DiseaseOrPhenotypicFeature denotes microphthalmia/anophthalmia

biored-valid-deepseek-r-g

Id Subject Object Predicate Lexical cue
T1 63-67 GeneOrGeneProduct denotes SOX2
T2 72-77 GeneOrGeneProduct denotes CHX10
T3 101-128 DiseaseOrPhenotypicFeature denotes anophthalmia/microphthalmia
T4 156-160 GeneOrGeneProduct denotes SOX2
T5 165-170 GeneOrGeneProduct denotes CHX10
T6 280-307 DiseaseOrPhenotypicFeature denotes anophthalmic/microphthalmic
T7 399-403 GeneOrGeneProduct denotes SOX2
T8 408-413 GeneOrGeneProduct denotes CHX10
T9 501-505 GeneOrGeneProduct denotes SOX2
T10 743-748 GeneOrGeneProduct denotes CHX10
T11 897-901 GeneOrGeneProduct denotes SOX2
T12 943-952 SequenceVariant denotes c.310 G>T
T13 1212-1221 SequenceVariant denotes c.549delC
T14 1476-1485 SequenceVariant denotes c.*557G>A
T15 1677-1688 SequenceVariant denotes c. *469 C>A
T16 1694-1704 SequenceVariant denotes rs11915160
T17 1813-1822 SequenceVariant denotes c.471 C>T
T18 1837-1847 SequenceVariant denotes rs35435463
T19 1853-1862 SequenceVariant denotes c.579 G>A
T20 1931-1940 SequenceVariant denotes c.871 G>A
T21 2172-2195 DiseaseOrPhenotypicFeature denotes severe eye malformation
T22 2227-2254 DiseaseOrPhenotypicFeature denotes microphthalmia/anophthalmia

biored-valid-gemini-nr-ng

Id Subject Object Predicate Lexical cue
T1 63-67 GeneOrGeneProduct denotes SOX2
T2 72-77 GeneOrGeneProduct denotes CHX10
T3 101-128 DiseaseOrPhenotypicFeature denotes anophthalmia/microphthalmia
T4 139-148 SequenceVariant denotes Mutations
T5 156-160 GeneOrGeneProduct denotes SOX2
T6 165-170 GeneOrGeneProduct denotes CHX10
T7 213-225 DiseaseOrPhenotypicFeature denotes anophthalmia
T8 233-247 DiseaseOrPhenotypicFeature denotes microphthalmia
T9 280-307 DiseaseOrPhenotypicFeature denotes anophthalmic/microphthalmic
T10 364-373 SequenceVariant denotes mutations
T11 378-395 SequenceVariant denotes sequence variants
T12 399-403 GeneOrGeneProduct denotes SOX2
T13 408-413 GeneOrGeneProduct denotes CHX10
T14 501-505 GeneOrGeneProduct denotes SOX2
T15 510-515 GeneOrGeneProduct denotes CHX10
T16 734-738 GeneOrGeneProduct denotes SOX2
T17 846-855 SequenceVariant denotes mutations
T18 864-881 SequenceVariant denotes sequence variants
T19 934-943 SequenceVariant denotes Mutation
T20 943-952 SequenceVariant denotes c.310 G>T
T21 954-964 SequenceVariant denotes p. Glu104X
T22 1095-1108 ChemicalEntity denotes glutamic acid
T23 1192-1211 SequenceVariant denotes nucleotide deletion
T24 1212-1221 SequenceVariant denotes c.549delC
T25 1223-1240 SequenceVariant denotes p. Pro184ArgfsX19
T26 1452-1475 SequenceVariant denotes nucleotide substitution
T27 1476-1485 SequenceVariant denotes c.*557G>A
T28 1645-1675 SequenceVariant denotes single nucleotide polymorphism
T29 1677-1688 SequenceVariant denotes c. *469 C>A
T30 1690-1704 SequenceVariant denotes SNP rs11915160
T31 1762-1767 GeneOrGeneProduct denotes CHX10
T32 1783-1811 SequenceVariant denotes synonymous sequence variants
T33 1813-1823 SequenceVariant denotes c.471 C>T
T34 1824-1835 SequenceVariant denotes p.Ser157Ser
T35 1837-1847 SequenceVariant denotes rs35435463
T36 1853-1863 SequenceVariant denotes c.579 G>A
T37 1864-1876 SequenceVariant denotes p. Gln193Gln
T38 1878-1887 SequenceVariant denotes novel SNP
T39 1898-1929 SequenceVariant denotes non-synonymous sequence variant
T40 1931-1941 SequenceVariant denotes c.871 G>A
T41 1942-1954 SequenceVariant denotes p. Asp291Asn
T42 1972-1999 SequenceVariant denotes non-synonymous polymorphism
T43 2111-2115 GeneOrGeneProduct denotes SOX2
T44 2172-2195 DiseaseOrPhenotypicFeature denotes severe eye malformation
T45 2227-2254 DiseaseOrPhenotypicFeature denotes microphthalmia/anophthalmia

biored-valid-gemini-r-ng

Id Subject Object Predicate Lexical cue
T1 24-33 SequenceVariant denotes mutations
T2 38-55 SequenceVariant denotes sequence variants
T3 63-67 GeneOrGeneProduct denotes SOX2
T4 72-77 GeneOrGeneProduct denotes CHX10
T5 101-128 DiseaseOrPhenotypicFeature denotes anophthalmia/microphthalmia
T6 139-148 SequenceVariant denotes Mutations
T7 156-160 GeneOrGeneProduct denotes SOX2
T8 165-170 GeneOrGeneProduct denotes CHX10
T9 213-225 DiseaseOrPhenotypicFeature denotes anophthalmia
T10 233-247 DiseaseOrPhenotypicFeature denotes microphthalmia
T11 280-307 DiseaseOrPhenotypicFeature denotes anophthalmic/microphthalmic
T12 364-373 SequenceVariant denotes mutations
T13 378-395 SequenceVariant denotes sequence variants
T14 399-403 GeneOrGeneProduct denotes SOX2
T15 408-413 GeneOrGeneProduct denotes CHX10
T16 501-505 GeneOrGeneProduct denotes SOX2
T17 510-515 GeneOrGeneProduct denotes CHX10
T18 661-675 DiseaseOrPhenotypicFeature denotes heteroduplexes
T19 734-738 GeneOrGeneProduct denotes SOX2
T20 743-748 GeneOrGeneProduct denotes CHX10
T21 833-855 SequenceVariant denotes heterozygous mutations
T22 864-881 SequenceVariant denotes sequence variants
T23 897-901 GeneOrGeneProduct denotes SOX2
T24 934-942 SequenceVariant denotes Mutation
T25 943-952 SequenceVariant denotes c.310 G>T
T26 954-964 SequenceVariant denotes p. Glu104X
T27 1095-1108 ChemicalEntity denotes glutamic acid
T28 1137-1145 SequenceVariant denotes mutation
T29 1185-1211 SequenceVariant denotes single nucleotide deletion
T30 1212-1221 SequenceVariant denotes c.549delC
T31 1223-1240 SequenceVariant denotes p. Pro184ArgfsX19
T32 1303-1313 SequenceVariant denotes frameshift
T33 1378-1385 GeneOrGeneProduct denotes protein
T34 1452-1475 SequenceVariant denotes nucleotide substitution
T35 1476-1485 SequenceVariant denotes c.*557G>A
T36 1576-1593 SequenceVariant denotes nucleotide change
T37 1602-1609 GeneOrGeneProduct denotes protein
T38 1645-1675 SequenceVariant denotes single nucleotide polymorphism
T39 1677-1688 SequenceVariant denotes c. *469 C>A
T40 1690-1704 SequenceVariant denotes SNP rs11915160
T41 1762-1767 GeneOrGeneProduct denotes CHX10
T42 1783-1811 SequenceVariant denotes synonymous sequence variants
T43 1813-1822 SequenceVariant denotes c.471 C>T
T44 1824-1835 SequenceVariant denotes p.Ser157Ser
T45 1837-1847 SequenceVariant denotes rs35435463
T46 1853-1862 SequenceVariant denotes c.579 G>A
T47 1864-1876 SequenceVariant denotes p. Gln193Gln
T48 1878-1887 SequenceVariant denotes novel SNP
T49 1898-1929 SequenceVariant denotes non-synonymous sequence variant
T50 1931-1940 SequenceVariant denotes c.871 G>A
T51 1942-1954 SequenceVariant denotes p. Asp291Asn
T52 1972-1999 SequenceVariant denotes non-synonymous polymorphism
T53 2111-2115 GeneOrGeneProduct denotes SOX2
T54 2172-2195 DiseaseOrPhenotypicFeature denotes severe eye malformation
T55 2197-2202 GeneOrGeneProduct denotes CHX10
T56 2227-2254 DiseaseOrPhenotypicFeature denotes microphthalmia/anophthalmia

biored-valid-gemini-r-g

Id Subject Object Predicate Lexical cue
T1 63-67 GeneOrGeneProduct denotes SOX2
T2 72-77 GeneOrGeneProduct denotes CHX10
T3 101-128 DiseaseOrPhenotypicFeature denotes anophthalmia/microphthalmia
T4 156-160 GeneOrGeneProduct denotes SOX2
T5 165-170 GeneOrGeneProduct denotes CHX10
T6 213-225 DiseaseOrPhenotypicFeature denotes anophthalmia
T7 233-247 DiseaseOrPhenotypicFeature denotes microphthalmia
T8 280-307 DiseaseOrPhenotypicFeature denotes anophthalmic/microphthalmic
T9 399-403 GeneOrGeneProduct denotes SOX2
T10 408-413 GeneOrGeneProduct denotes CHX10
T11 501-505 GeneOrGeneProduct denotes SOX2
T12 510-515 GeneOrGeneProduct denotes CHX10
T13 734-738 GeneOrGeneProduct denotes SOX2
T14 943-965 SequenceVariant denotes c.310 G>T (p. Glu104X)
T15 1020-1045 GeneOrGeneProduct denotes high mobility group (HMG)
T16 1212-1241 SequenceVariant denotes c.549delC (p. Pro184ArgfsX19)
T17 1476-1485 SequenceVariant denotes c.*557G>A
T18 1645-1705 SequenceVariant denotes single nucleotide polymorphism (c. *469 C>A, SNP rs11915160)
T19 1762-1767 GeneOrGeneProduct denotes CHX10
T20 1813-1848 SequenceVariant denotes c.471 C>T (p.Ser157Ser, rs35435463)
T21 1853-1888 SequenceVariant denotes c.579 G>A (p. Gln193Gln, novel SNP)
T22 1931-1966 SequenceVariant denotes c.871 G>A (p. Asp291Asn, novel SNP)
T23 2111-2115 GeneOrGeneProduct denotes SOX2
T24 2179-2195 DiseaseOrPhenotypicFeature denotes eye malformation
T25 2227-2254 DiseaseOrPhenotypicFeature denotes microphthalmia/anophthalmia

biored-valid-gpt-nr-ng

Id Subject Object Predicate Lexical cue
T1 63-67 GeneOrGeneProduct denotes SOX2
T2 72-77 GeneOrGeneProduct denotes CHX10
T3 101-128 DiseaseOrPhenotypicFeature denotes anophthalmia/microphthalmia
T4 156-160 GeneOrGeneProduct denotes SOX2
T5 165-170 GeneOrGeneProduct denotes CHX10
T6 213-225 DiseaseOrPhenotypicFeature denotes anophthalmia
T7 233-247 DiseaseOrPhenotypicFeature denotes microphthalmia
T8 280-307 DiseaseOrPhenotypicFeature denotes anophthalmic/microphthalmic
T9 316-319 ChemicalEntity denotes DNA
T10 399-403 GeneOrGeneProduct denotes SOX2
T11 408-413 GeneOrGeneProduct denotes CHX10
T12 501-505 GeneOrGeneProduct denotes SOX2
T13 510-515 GeneOrGeneProduct denotes CHX10
T14 734-738 GeneOrGeneProduct denotes SOX2
T15 743-748 GeneOrGeneProduct denotes CHX10
T16 897-901 GeneOrGeneProduct denotes SOX2
T17 943-952 SequenceVariant denotes c.310 G>T
T18 954-964 SequenceVariant denotes p. Glu104X
T19 1095-1108 ChemicalEntity denotes glutamic acid
T20 1212-1221 SequenceVariant denotes c.549delC
T21 1223-1240 SequenceVariant denotes p. Pro184ArgfsX19
T22 1476-1485 SequenceVariant denotes c.*557G>A
T23 1677-1688 SequenceVariant denotes c. *469 C>A
T24 1694-1704 SequenceVariant denotes rs11915160
T25 1762-1767 GeneOrGeneProduct denotes CHX10
T26 1813-1822 SequenceVariant denotes c.471 C>T
T27 1824-1835 SequenceVariant denotes p.Ser157Ser
T28 1837-1847 SequenceVariant denotes rs35435463
T29 1853-1862 SequenceVariant denotes c.579 G>A
T30 1864-1876 SequenceVariant denotes p. Gln193Gln
T31 1931-1940 SequenceVariant denotes c.871 G>A
T32 1942-1954 SequenceVariant denotes p. Asp291Asn
T33 2111-2115 GeneOrGeneProduct denotes SOX2
T34 2179-2195 DiseaseOrPhenotypicFeature denotes eye malformation
T35 2197-2202 GeneOrGeneProduct denotes CHX10
T36 2227-2254 DiseaseOrPhenotypicFeature denotes microphthalmia/anophthalmia

biored-valid-gpt-r-ng

Id Subject Object Predicate Lexical cue
T1 63-67 GeneOrGeneProduct denotes SOX2
T2 72-77 GeneOrGeneProduct denotes CHX10
T3 101-128 DiseaseOrPhenotypicFeature denotes anophthalmia/microphthalmia
T4 156-160 GeneOrGeneProduct denotes SOX2
T5 165-170 GeneOrGeneProduct denotes CHX10
T6 213-225 DiseaseOrPhenotypicFeature denotes anophthalmia
T7 233-247 DiseaseOrPhenotypicFeature denotes microphthalmia
T8 280-307 DiseaseOrPhenotypicFeature denotes anophthalmic/microphthalmic
T9 316-319 ChemicalEntity denotes DNA
T10 399-403 GeneOrGeneProduct denotes SOX2
T11 408-413 GeneOrGeneProduct denotes CHX10
T12 501-505 GeneOrGeneProduct denotes SOX2
T13 510-515 GeneOrGeneProduct denotes CHX10
T14 734-738 GeneOrGeneProduct denotes SOX2
T15 743-748 GeneOrGeneProduct denotes CHX10
T16 897-901 GeneOrGeneProduct denotes SOX2
T17 943-952 SequenceVariant denotes c.310 G>T
T18 954-964 SequenceVariant denotes p. Glu104X
T19 1046-1049 ChemicalEntity denotes DNA
T20 1095-1108 ChemicalEntity denotes glutamic acid
T21 1212-1221 SequenceVariant denotes c.549delC
T22 1223-1240 SequenceVariant denotes p. Pro184ArgfsX19
T23 1476-1485 SequenceVariant denotes c.*557G>A
T24 1677-1688 SequenceVariant denotes c. *469 C>A
T25 1694-1704 SequenceVariant denotes rs11915160
T26 1762-1767 GeneOrGeneProduct denotes CHX10
T27 1813-1822 SequenceVariant denotes c.471 C>T
T28 1824-1835 SequenceVariant denotes p.Ser157Ser
T29 1837-1847 SequenceVariant denotes rs35435463
T30 1853-1862 SequenceVariant denotes c.579 G>A
T31 1864-1876 SequenceVariant denotes p. Gln193Gln
T32 1931-1940 SequenceVariant denotes c.871 G>A
T33 1942-1954 SequenceVariant denotes p. Asp291Asn
T34 2111-2115 GeneOrGeneProduct denotes SOX2
T35 2172-2195 DiseaseOrPhenotypicFeature denotes severe eye malformation
T36 2197-2202 GeneOrGeneProduct denotes CHX10
T37 2227-2254 DiseaseOrPhenotypicFeature denotes microphthalmia/anophthalmia

biored-valid-gpt-r-g

Id Subject Object Predicate Lexical cue
T1 63-67 GeneOrGeneProduct denotes SOX2
T2 72-77 GeneOrGeneProduct denotes CHX10
T3 101-128 DiseaseOrPhenotypicFeature denotes anophthalmia/microphthalmia
T4 156-160 GeneOrGeneProduct denotes SOX2
T5 165-170 GeneOrGeneProduct denotes CHX10
T6 213-225 DiseaseOrPhenotypicFeature denotes anophthalmia
T7 233-247 DiseaseOrPhenotypicFeature denotes microphthalmia
T8 280-307 DiseaseOrPhenotypicFeature denotes anophthalmic/microphthalmic
T9 399-403 GeneOrGeneProduct denotes SOX2
T10 408-413 GeneOrGeneProduct denotes CHX10
T11 501-505 GeneOrGeneProduct denotes SOX2
T12 510-515 GeneOrGeneProduct denotes CHX10
T13 734-738 GeneOrGeneProduct denotes SOX2
T14 743-748 GeneOrGeneProduct denotes CHX10
T15 897-901 GeneOrGeneProduct denotes SOX2
T16 943-952 SequenceVariant denotes c.310 G>T
T17 954-964 SequenceVariant denotes p. Glu104X
T18 1212-1221 SequenceVariant denotes c.549delC
T19 1223-1240 SequenceVariant denotes p. Pro184ArgfsX19
T20 1476-1485 SequenceVariant denotes c.*557G>A
T21 1677-1688 SequenceVariant denotes c. *469 C>A
T22 1694-1704 SequenceVariant denotes rs11915160
T23 1762-1767 GeneOrGeneProduct denotes CHX10
T24 1813-1822 SequenceVariant denotes c.471 C>T
T25 1824-1835 SequenceVariant denotes p.Ser157Ser
T26 1837-1847 SequenceVariant denotes rs35435463
T27 1853-1862 SequenceVariant denotes c.579 G>A
T28 1864-1876 SequenceVariant denotes p. Gln193Gln
T29 1931-1940 SequenceVariant denotes c.871 G>A
T30 1942-1954 SequenceVariant denotes p. Asp291Asn
T31 2111-2115 GeneOrGeneProduct denotes SOX2
T32 2179-2195 DiseaseOrPhenotypicFeature denotes eye malformation
T33 2197-2202 GeneOrGeneProduct denotes CHX10
T34 2227-2254 DiseaseOrPhenotypicFeature denotes microphthalmia/anophthalmia

biored-valid-gpt-nr-g

Id Subject Object Predicate Lexical cue
T1 63-67 GeneOrGeneProduct denotes SOX2
T2 72-77 GeneOrGeneProduct denotes CHX10
T3 101-128 DiseaseOrPhenotypicFeature denotes anophthalmia/microphthalmia
T4 280-307 DiseaseOrPhenotypicFeature denotes anophthalmic/microphthalmic
T5 943-952 SequenceVariant denotes c.310 G>T
T6 954-964 SequenceVariant denotes p. Glu104X
T7 1212-1221 SequenceVariant denotes c.549delC
T8 1223-1240 SequenceVariant denotes p. Pro184ArgfsX19
T9 1476-1485 SequenceVariant denotes c.*557G>A
T10 1677-1688 SequenceVariant denotes c. *469 C>A
T11 1694-1704 SequenceVariant denotes rs11915160
T12 1813-1822 SequenceVariant denotes c.471 C>T
T13 1824-1835 SequenceVariant denotes p.Ser157Ser
T14 1837-1847 SequenceVariant denotes rs35435463
T15 1853-1862 SequenceVariant denotes c.579 G>A
T16 1864-1876 SequenceVariant denotes p. Gln193Gln
T17 1931-1940 SequenceVariant denotes c.871 G>A
T18 1942-1954 SequenceVariant denotes p. Asp291Asn
T19 2172-2195 DiseaseOrPhenotypicFeature denotes severe eye malformation
T20 2227-2254 DiseaseOrPhenotypicFeature denotes microphthalmia/anophthalmia

biored-valid-gemini-nr-g

Id Subject Object Predicate Lexical cue
T1 63-67 GeneOrGeneProduct denotes SOX2
T2 72-77 GeneOrGeneProduct denotes CHX10
T3 101-113 DiseaseOrPhenotypicFeature denotes anophthalmia
T4 114-128 DiseaseOrPhenotypicFeature denotes microphthalmia
T5 156-160 GeneOrGeneProduct denotes SOX2
T6 165-170 GeneOrGeneProduct denotes CHX10
T7 213-225 DiseaseOrPhenotypicFeature denotes anophthalmia
T8 233-247 DiseaseOrPhenotypicFeature denotes microphthalmia
T9 280-292 DiseaseOrPhenotypicFeature denotes anophthalmic
T10 293-307 DiseaseOrPhenotypicFeature denotes microphthalmic
T11 399-403 GeneOrGeneProduct denotes SOX2
T12 408-413 GeneOrGeneProduct denotes CHX10
T13 501-505 GeneOrGeneProduct denotes SOX2
T14 510-515 GeneOrGeneProduct denotes CHX10
T15 734-738 GeneOrGeneProduct denotes SOX2
T16 943-952 SequenceVariant denotes c.310 G>T
T17 954-964 SequenceVariant denotes p. Glu104X
T18 1095-1108 ChemicalEntity denotes glutamic acid
T19 1212-1221 SequenceVariant denotes c.549delC
T20 1223-1240 SequenceVariant denotes p. Pro184ArgfsX19
T21 1476-1485 SequenceVariant denotes c.*557G>A
T22 1677-1704 SequenceVariant denotes c. *469 C>A, SNP rs11915160
T23 1762-1767 GeneOrGeneProduct denotes CHX10
T24 1813-1822 SequenceVariant denotes c.471 C>T
T25 1824-1835 SequenceVariant denotes p.Ser157Ser
T26 1837-1847 SequenceVariant denotes rs35435463
T27 1853-1862 SequenceVariant denotes c.579 G>A
T28 1864-1876 SequenceVariant denotes p. Gln193Gln
T29 1931-1940 SequenceVariant denotes c.871 G>A
T30 1942-1954 SequenceVariant denotes p. Asp291Asn
T31 2111-2115 GeneOrGeneProduct denotes SOX2
T32 2172-2195 DiseaseOrPhenotypicFeature denotes severe eye malformation
T33 2227-2241 DiseaseOrPhenotypicFeature denotes microphthalmia
T34 2242-2254 DiseaseOrPhenotypicFeature denotes anophthalmia

biored-valid-gpt-r-m

Id Subject Object Predicate Lexical cue
T1 63-67 GeneOrGeneProduct denotes SOX2
T2 72-77 GeneOrGeneProduct denotes CHX10
T3 87-95 OrganismTaxon denotes patients
T4 101-128 DiseaseOrPhenotypicFeature denotes anophthalmia/microphthalmia
T5 156-160 GeneOrGeneProduct denotes SOX2
T6 165-170 GeneOrGeneProduct denotes CHX10
T7 199-207 OrganismTaxon denotes patients
T8 213-247 DiseaseOrPhenotypicFeature denotes anophthalmia and/or microphthalmia
T9 280-307 DiseaseOrPhenotypicFeature denotes anophthalmic/microphthalmic
T10 308-315 OrganismTaxon denotes patient
T11 341-349 OrganismTaxon denotes siblings
T12 399-403 GeneOrGeneProduct denotes SOX2
T13 408-413 GeneOrGeneProduct denotes CHX10
T14 501-505 GeneOrGeneProduct denotes SOX2
T15 510-515 GeneOrGeneProduct denotes CHX10
T16 541-552 OrganismTaxon denotes individuals
T17 566-574 OrganismTaxon denotes siblings
T18 593-607 OrganismTaxon denotes family members
T19 624-632 OrganismTaxon denotes controls
T20 634-641 OrganismTaxon denotes Patient
T21 734-738 GeneOrGeneProduct denotes SOX2
T22 743-748 GeneOrGeneProduct denotes CHX10
T23 797-804 OrganismTaxon denotes patient
T24 897-901 GeneOrGeneProduct denotes SOX2
T25 943-952 SequenceVariant denotes c.310 G>T
T26 954-964 SequenceVariant denotes p. Glu104X
T27 980-987 OrganismTaxon denotes patient
T28 1169-1177 OrganismTaxon denotes siblings
T29 1212-1221 SequenceVariant denotes c.549delC
T30 1223-1240 SequenceVariant denotes p. Pro184ArgfsX19
T31 1476-1485 SequenceVariant denotes c.*557G>A
T32 1538-1545 OrganismTaxon denotes patient
T33 1677-1688 SequenceVariant denotes c. *469 C>A
T34 1694-1704 SequenceVariant denotes rs11915160
T35 1739-1747 OrganismTaxon denotes patients
T36 1762-1767 GeneOrGeneProduct denotes CHX10
T37 1813-1822 SequenceVariant denotes c.471 C>T
T38 1824-1835 SequenceVariant denotes p.Ser157Ser
T39 1837-1847 SequenceVariant denotes rs35435463
T40 1853-1862 SequenceVariant denotes c.579 G>A
T41 1864-1876 SequenceVariant denotes p. Gln193Gln
T42 1931-1940 SequenceVariant denotes c.871 G>A
T43 1942-1954 SequenceVariant denotes p. Asp291Asn
T44 2028-2036 OrganismTaxon denotes controls
T45 2111-2115 GeneOrGeneProduct denotes SOX2
T46 2179-2195 DiseaseOrPhenotypicFeature denotes eye malformation
T47 2197-2202 GeneOrGeneProduct denotes CHX10
T48 2227-2254 DiseaseOrPhenotypicFeature denotes microphthalmia/anophthalmia
T49 2262-2269 OrganismTaxon denotes patient

biored-valid-gemini-r-m

Id Subject Object Predicate Lexical cue
T1 18-33 SequenceVariant denotes novel mutations
T2 38-55 SequenceVariant denotes sequence variants
T3 63-67 GeneOrGeneProduct denotes SOX2
T4 72-77 GeneOrGeneProduct denotes CHX10
T5 87-95 OrganismTaxon denotes patients
T6 101-128 DiseaseOrPhenotypicFeature denotes anophthalmia/microphthalmia
T7 156-160 GeneOrGeneProduct denotes SOX2
T8 165-170 GeneOrGeneProduct denotes CHX10
T9 199-207 OrganismTaxon denotes patients
T10 213-225 DiseaseOrPhenotypicFeature denotes anophthalmia
T11 233-247 DiseaseOrPhenotypicFeature denotes microphthalmia
T12 280-307 DiseaseOrPhenotypicFeature denotes anophthalmic/microphthalmic
T13 308-315 OrganismTaxon denotes patient
T14 341-349 OrganismTaxon denotes siblings
T15 378-395 SequenceVariant denotes sequence variants
T16 399-403 GeneOrGeneProduct denotes SOX2
T17 408-413 GeneOrGeneProduct denotes CHX10
T18 501-505 GeneOrGeneProduct denotes SOX2
T19 510-515 GeneOrGeneProduct denotes CHX10
T20 532-552 OrganismTaxon denotes affected individuals
T21 566-574 OrganismTaxon denotes siblings
T22 582-607 OrganismTaxon denotes unaffected family members
T23 616-632 OrganismTaxon denotes healthy controls
T24 634-641 OrganismTaxon denotes Patient
T25 713-730 SequenceVariant denotes Base pair changes
T26 734-738 GeneOrGeneProduct denotes SOX2
T27 743-748 GeneOrGeneProduct denotes CHX10
T28 797-804 OrganismTaxon denotes patient
T29 833-855 SequenceVariant denotes heterozygous mutations
T30 864-881 SequenceVariant denotes sequence variants
T31 897-901 GeneOrGeneProduct denotes SOX2
T32 934-965 SequenceVariant denotes Mutation c.310 G>T (p. Glu104X)
T33 980-987 OrganismTaxon denotes patient
T34 1020-1045 GeneOrGeneProduct denotes high mobility group (HMG)
T35 1169-1177 OrganismTaxon denotes siblings
T36 1185-1241 SequenceVariant denotes single nucleotide deletion c.549delC (p. Pro184ArgfsX19)
T37 1303-1313 DiseaseOrPhenotypicFeature denotes frameshift
T38 1413-1429 DiseaseOrPhenotypicFeature denotes loss of function
T39 1452-1485 SequenceVariant denotes nucleotide substitution c.*557G>A
T40 1538-1545 OrganismTaxon denotes patient
T41 1576-1593 SequenceVariant denotes nucleotide change
T42 1645-1705 SequenceVariant denotes single nucleotide polymorphism (c. *469 C>A, SNP rs11915160)
T43 1739-1747 OrganismTaxon denotes patients
T44 1762-1767 GeneOrGeneProduct denotes CHX10
T45 1783-1811 SequenceVariant denotes synonymous sequence variants
T46 1813-1848 SequenceVariant denotes c.471 C>T (p.Ser157Ser, rs35435463)
T47 1853-1888 SequenceVariant denotes c.579 G>A (p. Gln193Gln, novel SNP)
T48 1898-1929 SequenceVariant denotes non-synonymous sequence variant
T49 1931-1966 SequenceVariant denotes c.871 G>A (p. Asp291Asn, novel SNP)
T50 1972-1999 SequenceVariant denotes non-synonymous polymorphism
T51 2020-2036 OrganismTaxon denotes healthy controls
T52 2111-2115 GeneOrGeneProduct denotes SOX2
T53 2139-2160 DiseaseOrPhenotypicFeature denotes Loss of SOX2 function
T54 2172-2195 DiseaseOrPhenotypicFeature denotes severe eye malformation
T55 2197-2202 GeneOrGeneProduct denotes CHX10
T56 2227-2254 DiseaseOrPhenotypicFeature denotes microphthalmia/anophthalmia
T57 2262-2269 OrganismTaxon denotes patient

biored-valid-deepseek-r-m

Id Subject Object Predicate Lexical cue
T1 63-67 GeneOrGeneProduct denotes SOX2
T2 72-77 GeneOrGeneProduct denotes CHX10
T3 101-128 DiseaseOrPhenotypicFeature denotes anophthalmia/microphthalmia
T4 156-160 GeneOrGeneProduct denotes SOX2
T5 165-170 GeneOrGeneProduct denotes CHX10
T6 213-225 DiseaseOrPhenotypicFeature denotes anophthalmia
T7 233-247 DiseaseOrPhenotypicFeature denotes microphthalmia
T8 280-307 DiseaseOrPhenotypicFeature denotes anophthalmic/microphthalmic
T9 399-403 GeneOrGeneProduct denotes SOX2
T10 408-413 GeneOrGeneProduct denotes CHX10
T11 501-505 GeneOrGeneProduct denotes SOX2
T12 743-748 GeneOrGeneProduct denotes CHX10
T13 897-901 GeneOrGeneProduct denotes SOX2
T14 943-952 SequenceVariant denotes c.310 G>T
T15 954-964 SequenceVariant denotes p. Glu104X
T16 1212-1221 SequenceVariant denotes c.549delC
T17 1223-1240 SequenceVariant denotes p. Pro184ArgfsX19
T18 1476-1485 SequenceVariant denotes c.*557G>A
T19 1677-1688 SequenceVariant denotes c. *469 C>A
T20 1690-1704 SequenceVariant denotes SNP rs11915160
T21 1813-1822 SequenceVariant denotes c.471 C>T
T22 1824-1835 SequenceVariant denotes p.Ser157Ser
T23 1837-1847 SequenceVariant denotes rs35435463
T24 1853-1862 SequenceVariant denotes c.579 G>A
T25 1864-1876 SequenceVariant denotes p. Gln193Gln
T26 1931-1940 SequenceVariant denotes c.871 G>A
T27 1942-1954 SequenceVariant denotes p. Asp291Asn
T28 2179-2195 DiseaseOrPhenotypicFeature denotes eye malformation
T29 2227-2254 DiseaseOrPhenotypicFeature denotes microphthalmia/anophthalmia