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test-210614

Id Subject Object Predicate Lexical cue proteinmutation
18470323_0 63-68 ProteinMutation denotes R124C rs121909210
18470323_1 654-659 ProteinMutation denotes R124C rs121909210
18470323_2 1684-1689 ProteinMutation denotes R124C rs121909210
18470323_3 1880-1885 ProteinMutation denotes tatio rs121909210

PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
18470323_0 63-68 ProteinMutation denotes R124C rs121909210
18470323_1 654-659 ProteinMutation denotes R124C rs121909210
18470323_2 1684-1689 ProteinMutation denotes R124C rs121909210
18470323_3 1880-1885 ProteinMutation denotes tatio rs121909210

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-104 Sentence denotes Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.
T2 105-113 Sentence denotes PURPOSE:
T3 114-242 Sentence denotes To report the clinical, ophthalmic, and genetic characteristics for lattice corneal dystrophy type I (LCDI) in a Chilean family.
T4 243-251 Sentence denotes METHODS:
T5 252-395 Sentence denotes Six affected family members were examined clinically including visual acuity, color cornea photography, applanation tonography, and fundoscopy.
T6 396-546 Sentence denotes Genomic DNA was extracted from peripheral leukocytes from six affected and three unaffected members of a family with lattice corneal dystrophy type I.
T7 547-690 Sentence denotes Exon 4 of the transforming growth factor-induced gene (TGFBI) was screened for the most frequent mutation, R124C, in the proband by sequencing.
T8 691-892 Sentence denotes We also designed a rapid polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method to analyze the same mutation, amplifying exon 4 and digesting with PstI restriction enzyme.
T9 893-988 Sentence denotes Using this strategy, we analyzed the mutation in six affected and three healthy family members.
T10 989-997 Sentence denotes RESULTS:
T11 998-1091 Sentence denotes Three generations of family members were positively diagnosed with lattice corneal dystrophy.
T12 1092-1169 Sentence denotes Six participants demonstrated LCD1 in both eyes, most of whom were symmetric.
T13 1170-1225 Sentence denotes Age at onset of symptoms was variable (3-42 years old).
T14 1226-1364 Sentence denotes Moreover, in this family, the age of onset of the disease decreased in succeeding generations, which could be interpreted as anticipation.
T15 1365-1403 Sentence denotes Visual acuity varied from 1.0 to 0.13.
T16 1404-1542 Sentence denotes Two patients, ages 69 and 44 years old, demonstrated a degree of severity "Bad" according to best-corrected vision and corneal commitment.
T17 1543-1726 Sentence denotes The exon 4 sequence of TGFBI of the proband exhibits the heterozygous single-nucleotide mutation, C417T, leading to amino acid substitution (R124C) in the encoded TGF-induced protein.
T18 1727-1854 Sentence denotes Using PCR-RFLP, we confirmed the heterozygous mutation in six affected family members and excluded it in three healthy members.
T19 1855-1867 Sentence denotes CONCLUSIONS:
T20 1868-1952 Sentence denotes The R124C mutation in TGFBI cosegregated with LCD type I in the investigated family.
T21 1953-2036 Sentence denotes This is the first report of a molecular analysis of LCD type I in Chilean patients.
T22 2037-2134 Sentence denotes The early onset affected persons in the fourth generation raises the possibility of anticipation.

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
5076 25-57 DiseaseOrPhenotypicFeature denotes lattice corneal dystrophy type I MESH:C537881
5077 63-68 SequenceVariant denotes R124C DBSNP:rs121909210
5078 85-90 GeneOrGeneProduct denotes TGFBI NCBIGene:7045
5079 92-97 GeneOrGeneProduct denotes BIGH3 NCBIGene:7045
5080 182-214 DiseaseOrPhenotypicFeature denotes lattice corneal dystrophy type I MESH:C537881
5081 216-220 DiseaseOrPhenotypicFeature denotes LCDI MESH:C537881
5082 513-545 DiseaseOrPhenotypicFeature denotes lattice corneal dystrophy type I MESH:C537881
5083 561-600 GeneOrGeneProduct denotes transforming growth factor-induced gene NCBIGene:7045
5084 602-607 GeneOrGeneProduct denotes TGFBI NCBIGene:7045
5085 654-659 SequenceVariant denotes R124C DBSNP:rs121909210
5086 868-872 GeneOrGeneProduct denotes PstI NCBIGene:6690
5087 1065-1090 DiseaseOrPhenotypicFeature denotes lattice corneal dystrophy MESH:C537881
5088 1122-1126 DiseaseOrPhenotypicFeature denotes LCD1 MESH:C537881
5089 1408-1416 OrganismTaxon denotes patients NCBITaxon:9606
5090 1566-1571 GeneOrGeneProduct denotes TGFBI NCBIGene:7045
5091 1641-1646 SequenceVariant denotes C417T DBSNP:rs121909210
5092 1684-1689 SequenceVariant denotes R124C DBSNP:rs121909210
5093 1706-1725 GeneOrGeneProduct denotes TGF-induced protein NCBIGene:7045
5094 1872-1877 SequenceVariant denotes R124C DBSNP:rs121909210
5095 1890-1895 GeneOrGeneProduct denotes TGFBI NCBIGene:7045
5096 1914-1924 DiseaseOrPhenotypicFeature denotes LCD type I MESH:C537881
5097 2005-2015 DiseaseOrPhenotypicFeature denotes LCD type I MESH:C537881
5098 2027-2035 OrganismTaxon denotes patients NCBITaxon:9606

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 25-57 DiseaseOrPhenotypicFeature denotes lattice corneal dystrophy type I 0007380
T2 25-50 DiseaseOrPhenotypicFeature denotes lattice corneal dystrophy 0004686
T3 33-50 DiseaseOrPhenotypicFeature denotes corneal dystrophy 0018102
T4 182-214 DiseaseOrPhenotypicFeature denotes lattice corneal dystrophy type I 0007380
T5 182-207 DiseaseOrPhenotypicFeature denotes lattice corneal dystrophy 0004686
T6 190-207 DiseaseOrPhenotypicFeature denotes corneal dystrophy 0018102
T7 513-545 DiseaseOrPhenotypicFeature denotes lattice corneal dystrophy type I 0007380
T8 513-538 DiseaseOrPhenotypicFeature denotes lattice corneal dystrophy 0004686
T9 521-538 DiseaseOrPhenotypicFeature denotes corneal dystrophy 0018102
T10 1065-1090 DiseaseOrPhenotypicFeature denotes lattice corneal dystrophy 0004686
T11 1073-1090 DiseaseOrPhenotypicFeature denotes corneal dystrophy 0018102

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 63-68 SequenceVariant denotes R124C
T2 654-659 SequenceVariant denotes R124C
T3 1641-1646 SequenceVariant denotes C417T
T4 1684-1689 SequenceVariant denotes R124C
T5 1872-1877 SequenceVariant denotes R124C

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 51-57 GeneOrGeneProduct denotes type I
T2 85-90 GeneOrGeneProduct denotes TGFBI
T3 92-97 GeneOrGeneProduct denotes BIGH3
T4 208-214 GeneOrGeneProduct denotes type I
T5 539-545 GeneOrGeneProduct denotes type I
T6 574-587 GeneOrGeneProduct denotes growth factor
T7 602-607 GeneOrGeneProduct denotes TGFBI
T8 716-726 GeneOrGeneProduct denotes polymerase
T9 727-732 GeneOrGeneProduct denotes chain
T10 794-800 GeneOrGeneProduct denotes method
T11 885-891 GeneOrGeneProduct denotes enzyme
T12 1122-1126 GeneOrGeneProduct denotes LCD1
T13 1497-1501 GeneOrGeneProduct denotes best
T14 1566-1571 GeneOrGeneProduct denotes TGFBI
T15 1659-1669 GeneOrGeneProduct denotes amino acid
T16 1718-1725 GeneOrGeneProduct denotes protein
T17 1890-1895 GeneOrGeneProduct denotes TGFBI
T18 1918-1924 GeneOrGeneProduct denotes type I
T19 2009-2015 GeneOrGeneProduct denotes type I
T20 2041-2046 GeneOrGeneProduct denotes early

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 51-57 GeneOrGeneProduct denotes type I
T2 69-77 GeneOrGeneProduct denotes mutation
T3 85-90 GeneOrGeneProduct denotes TGFBI
T4 92-97 GeneOrGeneProduct denotes BIGH3
T5 208-214 GeneOrGeneProduct denotes type I
T6 222-226 GeneOrGeneProduct denotes in a
T7 243-250 GeneOrGeneProduct denotes METHODS
T8 488-500 GeneOrGeneProduct denotes members of a
T9 539-545 GeneOrGeneProduct denotes type I
T10 574-587 GeneOrGeneProduct denotes growth factor
T11 588-595 GeneOrGeneProduct denotes induced
T12 602-607 GeneOrGeneProduct denotes TGFBI
T13 644-652 GeneOrGeneProduct denotes mutation
T14 716-726 GeneOrGeneProduct denotes polymerase
T15 727-732 GeneOrGeneProduct denotes chain
T16 788-792 GeneOrGeneProduct denotes RFLP
T17 794-800 GeneOrGeneProduct denotes method
T18 821-829 GeneOrGeneProduct denotes mutation
T19 847-852 GeneOrGeneProduct denotes 4 and
T20 868-872 GeneOrGeneProduct denotes PstI
T21 885-891 GeneOrGeneProduct denotes enzyme
T22 930-938 GeneOrGeneProduct denotes mutation
T23 1122-1126 GeneOrGeneProduct denotes LCD1
T24 1135-1139 GeneOrGeneProduct denotes eyes
T25 1214-1219 GeneOrGeneProduct denotes years
T26 1379-1385 GeneOrGeneProduct denotes varied
T27 1433-1438 GeneOrGeneProduct denotes years
T28 1497-1501 GeneOrGeneProduct denotes best
T29 1566-1571 GeneOrGeneProduct denotes TGFBI
T30 1631-1639 GeneOrGeneProduct denotes mutation
T31 1659-1669 GeneOrGeneProduct denotes amino acid
T32 1710-1717 GeneOrGeneProduct denotes induced
T33 1718-1725 GeneOrGeneProduct denotes protein
T34 1737-1741 GeneOrGeneProduct denotes RFLP
T35 1773-1781 GeneOrGeneProduct denotes mutation
T36 1878-1886 GeneOrGeneProduct denotes mutation
T37 1890-1895 GeneOrGeneProduct denotes TGFBI
T38 1918-1924 GeneOrGeneProduct denotes type I
T39 2009-2015 GeneOrGeneProduct denotes type I
T40 2041-2046 GeneOrGeneProduct denotes early
T41 2095-2101 GeneOrGeneProduct denotes raises

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 33-50 DiseaseOrPhenotypicFeature denotes corneal dystrophy D003317
T2 190-207 DiseaseOrPhenotypicFeature denotes corneal dystrophy D003317
T3 521-538 DiseaseOrPhenotypicFeature denotes corneal dystrophy D003317
T4 1073-1090 DiseaseOrPhenotypicFeature denotes corneal dystrophy D003317
T5 1276-1283 DiseaseOrPhenotypicFeature denotes disease D004194

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 85-90 GeneOrGeneProduct denotes TGFBI
T2 92-97 GeneOrGeneProduct denotes BIGH3
T3 574-587 GeneOrGeneProduct denotes growth factor
T4 602-607 GeneOrGeneProduct denotes TGFBI
T5 1122-1126 GeneOrGeneProduct denotes LCD1
T6 1566-1571 GeneOrGeneProduct denotes TGFBI
T7 1890-1895 GeneOrGeneProduct denotes TGFBI

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 25-57 DiseaseOrPhenotypicFeature denotes lattice corneal dystrophy type I 0007380
T2 182-214 DiseaseOrPhenotypicFeature denotes lattice corneal dystrophy type I 0007380
T3 216-220 DiseaseOrPhenotypicFeature denotes LCDI 0007380
T4 513-545 DiseaseOrPhenotypicFeature denotes lattice corneal dystrophy type I 0007380
T5 1065-1090 DiseaseOrPhenotypicFeature denotes lattice corneal dystrophy 0004686
T6 1914-1917 DiseaseOrPhenotypicFeature denotes LCD 0007380
T7 2005-2008 DiseaseOrPhenotypicFeature denotes LCD 0007380

PMID_GLOBAL

Id Subject Object Predicate Lexical cue mondo_id
T1 25-57 DiseaseOrPhenotypicFeature denotes lattice corneal dystrophy type I 0007380
T2 182-214 DiseaseOrPhenotypicFeature denotes lattice corneal dystrophy type I 0007380
T3 216-220 DiseaseOrPhenotypicFeature denotes LCDI 0007380
T4 513-545 DiseaseOrPhenotypicFeature denotes lattice corneal dystrophy type I 0007380
T5 1065-1090 DiseaseOrPhenotypicFeature denotes lattice corneal dystrophy 0004686
T6 1914-1917 DiseaseOrPhenotypicFeature denotes LCD 0007380
T7 2005-2008 DiseaseOrPhenotypicFeature denotes LCD 0007380

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 33-50 DiseaseOrPhenotypicFeature denotes corneal dystrophy D003317
T2 190-207 DiseaseOrPhenotypicFeature denotes corneal dystrophy D003317
T3 216-220 DiseaseOrPhenotypicFeature denotes LCDI DISEASE
T4 521-538 DiseaseOrPhenotypicFeature denotes corneal dystrophy D003317
T5 1073-1090 DiseaseOrPhenotypicFeature denotes corneal dystrophy D003317
T6 1122-1126 DiseaseOrPhenotypicFeature denotes LCD1 DISEASE
T7 1276-1283 DiseaseOrPhenotypicFeature denotes disease D004194

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 25-57 DiseaseOrPhenotypicFeature denotes lattice corneal dystrophy type I C537881
T2 182-214 DiseaseOrPhenotypicFeature denotes lattice corneal dystrophy type I C537881
T3 216-220 DiseaseOrPhenotypicFeature denotes LCDI DISEASE
T4 513-545 DiseaseOrPhenotypicFeature denotes lattice corneal dystrophy type I C537881
T5 1073-1090 DiseaseOrPhenotypicFeature denotes corneal dystrophy D003317
T6 1122-1126 DiseaseOrPhenotypicFeature denotes LCD1 DISEASE
T7 1914-1924 DiseaseOrPhenotypicFeature denotes LCD type I DISEASE
T8 2005-2015 DiseaseOrPhenotypicFeature denotes LCD type I DISEASE

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 868-891 ChemicalEntity denotes PstI restriction enzyme C024388

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 1408-1416 OrganismTaxon denotes patients
T2 2027-2035 OrganismTaxon denotes patients

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T1 868-891 ChemicalEntity denotes PstI restriction enzyme C024388
T7 1890-1895 GeneOrGeneProduct denotes TGFBI
T6 1566-1571 GeneOrGeneProduct denotes TGFBI
T5 1122-1126 GeneOrGeneProduct denotes LCD1
T4 602-607 GeneOrGeneProduct denotes TGFBI
T3 574-587 GeneOrGeneProduct denotes growth factor
T2 92-97 GeneOrGeneProduct denotes BIGH3
T55442 85-90 GeneOrGeneProduct denotes TGFBI
T8 2005-2015 DiseaseOrPhenotypicFeature denotes LCD type I DISEASE
T9349 1914-1924 DiseaseOrPhenotypicFeature denotes LCD type I DISEASE
T33553 1122-1126 DiseaseOrPhenotypicFeature denotes LCD1 DISEASE
T74276 1073-1090 DiseaseOrPhenotypicFeature denotes corneal dystrophy D003317
T90895 513-545 DiseaseOrPhenotypicFeature denotes lattice corneal dystrophy type I C537881
T62723 216-220 DiseaseOrPhenotypicFeature denotes LCDI DISEASE
T84989 182-214 DiseaseOrPhenotypicFeature denotes lattice corneal dystrophy type I C537881
T50708 25-57 DiseaseOrPhenotypicFeature denotes lattice corneal dystrophy type I C537881
T49314 2027-2035 OrganismTaxon denotes patients
T88196 1408-1416 OrganismTaxon denotes patients
T82542 1872-1877 SequenceVariant denotes R124C
T28348 1684-1689 SequenceVariant denotes R124C
T96972 1641-1646 SequenceVariant denotes C417T
T81756 654-659 SequenceVariant denotes R124C
T23491 63-68 SequenceVariant denotes R124C

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-104 Sentence denotes Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.
TextSentencer_T2 105-113 Sentence denotes PURPOSE:
TextSentencer_T3 114-242 Sentence denotes To report the clinical, ophthalmic, and genetic characteristics for lattice corneal dystrophy type I (LCDI) in a Chilean family.
TextSentencer_T4 243-251 Sentence denotes METHODS:
TextSentencer_T5 252-395 Sentence denotes Six affected family members were examined clinically including visual acuity, color cornea photography, applanation tonography, and fundoscopy.
TextSentencer_T6 396-546 Sentence denotes Genomic DNA was extracted from peripheral leukocytes from six affected and three unaffected members of a family with lattice corneal dystrophy type I.
TextSentencer_T7 547-690 Sentence denotes Exon 4 of the transforming growth factor-induced gene (TGFBI) was screened for the most frequent mutation, R124C, in the proband by sequencing.
TextSentencer_T8 691-892 Sentence denotes We also designed a rapid polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method to analyze the same mutation, amplifying exon 4 and digesting with PstI restriction enzyme.
TextSentencer_T9 893-988 Sentence denotes Using this strategy, we analyzed the mutation in six affected and three healthy family members.
TextSentencer_T10 989-997 Sentence denotes RESULTS:
TextSentencer_T11 998-1091 Sentence denotes Three generations of family members were positively diagnosed with lattice corneal dystrophy.
TextSentencer_T12 1092-1169 Sentence denotes Six participants demonstrated LCD1 in both eyes, most of whom were symmetric.
TextSentencer_T13 1170-1225 Sentence denotes Age at onset of symptoms was variable (3-42 years old).
TextSentencer_T14 1226-1364 Sentence denotes Moreover, in this family, the age of onset of the disease decreased in succeeding generations, which could be interpreted as anticipation.
TextSentencer_T15 1365-1403 Sentence denotes Visual acuity varied from 1.0 to 0.13.
TextSentencer_T16 1404-1542 Sentence denotes Two patients, ages 69 and 44 years old, demonstrated a degree of severity "Bad" according to best-corrected vision and corneal commitment.
TextSentencer_T17 1543-1726 Sentence denotes The exon 4 sequence of TGFBI of the proband exhibits the heterozygous single-nucleotide mutation, C417T, leading to amino acid substitution (R124C) in the encoded TGF-induced protein.
TextSentencer_T18 1727-1854 Sentence denotes Using PCR-RFLP, we confirmed the heterozygous mutation in six affected family members and excluded it in three healthy members.
TextSentencer_T19 1855-1867 Sentence denotes CONCLUSIONS:
TextSentencer_T20 1868-1952 Sentence denotes The R124C mutation in TGFBI cosegregated with LCD type I in the investigated family.
TextSentencer_T21 1953-2036 Sentence denotes This is the first report of a molecular analysis of LCD type I in Chilean patients.
TextSentencer_T22 2037-2134 Sentence denotes The early onset affected persons in the fourth generation raises the possibility of anticipation.
T1 0-104 Sentence denotes Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.
T2 105-113 Sentence denotes PURPOSE:
T3 114-242 Sentence denotes To report the clinical, ophthalmic, and genetic characteristics for lattice corneal dystrophy type I (LCDI) in a Chilean family.
T4 243-251 Sentence denotes METHODS:
T5 252-395 Sentence denotes Six affected family members were examined clinically including visual acuity, color cornea photography, applanation tonography, and fundoscopy.
T6 396-546 Sentence denotes Genomic DNA was extracted from peripheral leukocytes from six affected and three unaffected members of a family with lattice corneal dystrophy type I.
T7 547-690 Sentence denotes Exon 4 of the transforming growth factor-induced gene (TGFBI) was screened for the most frequent mutation, R124C, in the proband by sequencing.
T8 691-892 Sentence denotes We also designed a rapid polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method to analyze the same mutation, amplifying exon 4 and digesting with PstI restriction enzyme.
T9 893-988 Sentence denotes Using this strategy, we analyzed the mutation in six affected and three healthy family members.
T10 989-997 Sentence denotes RESULTS:
T11 998-1091 Sentence denotes Three generations of family members were positively diagnosed with lattice corneal dystrophy.
T12 1092-1169 Sentence denotes Six participants demonstrated LCD1 in both eyes, most of whom were symmetric.
T13 1170-1225 Sentence denotes Age at onset of symptoms was variable (3-42 years old).
T14 1226-1364 Sentence denotes Moreover, in this family, the age of onset of the disease decreased in succeeding generations, which could be interpreted as anticipation.
T15 1365-1403 Sentence denotes Visual acuity varied from 1.0 to 0.13.
T16 1404-1542 Sentence denotes Two patients, ages 69 and 44 years old, demonstrated a degree of severity "Bad" according to best-corrected vision and corneal commitment.
T17 1543-1726 Sentence denotes The exon 4 sequence of TGFBI of the proband exhibits the heterozygous single-nucleotide mutation, C417T, leading to amino acid substitution (R124C) in the encoded TGF-induced protein.
T18 1727-1854 Sentence denotes Using PCR-RFLP, we confirmed the heterozygous mutation in six affected family members and excluded it in three healthy members.
T19 1855-1867 Sentence denotes CONCLUSIONS:
T20 1868-1952 Sentence denotes The R124C mutation in TGFBI cosegregated with LCD type I in the investigated family.
T21 1953-2036 Sentence denotes This is the first report of a molecular analysis of LCD type I in Chilean patients.
T22 2037-2134 Sentence denotes The early onset affected persons in the fourth generation raises the possibility of anticipation.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 85-90 gene:7045 denotes TGFBI
T1 25-57 disease:C1690006 denotes lattice corneal dystrophy type I
T2 92-97 gene:7045 denotes BIGH3
T3 25-57 disease:C1690006 denotes lattice corneal dystrophy type I
R1 T0 T1 associated_with TGFBI,lattice corneal dystrophy type I
R2 T2 T3 associated_with BIGH3,lattice corneal dystrophy type I

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
18470323-0#63#68#geners121909210 63-68 geners121909210 denotes R124C
18470323-0#25#57#diseaseC1690006 25-57 diseaseC1690006 denotes lattice corneal dystrophy type I
63#68#geners12190921025#57#diseaseC1690006 18470323-0#63#68#geners121909210 18470323-0#25#57#diseaseC1690006 associated_with R124C,lattice corneal dystrophy type I

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
18470323-0#85#90#gene7045 85-90 gene7045 denotes TGFBI
18470323-0#92#97#gene7045 92-97 gene7045 denotes BIGH3
18470323-0#25#57#diseaseC1690006 25-57 diseaseC1690006 denotes lattice corneal dystrophy type I
85#90#gene704525#57#diseaseC1690006 18470323-0#85#90#gene7045 18470323-0#25#57#diseaseC1690006 associated_with TGFBI,lattice corneal dystrophy type I
92#97#gene704525#57#diseaseC1690006 18470323-0#92#97#gene7045 18470323-0#25#57#diseaseC1690006 associated_with BIGH3,lattice corneal dystrophy type I

PubCasesHPO

Id Subject Object Predicate Lexical cue
TI1 25-50 HP:0001149 denotes lattice corneal dystrophy
AB1 182-207 HP:0001149 denotes lattice corneal dystrophy
AB2 513-538 HP:0001149 denotes lattice corneal dystrophy
AB3 1065-1090 HP:0001149 denotes lattice corneal dystrophy

PubCasesORDO

Id Subject Object Predicate Lexical cue
TI1 25-57 ORDO:98964 denotes lattice corneal dystrophy type I
AB1 182-214 ORDO:98964 denotes lattice corneal dystrophy type I
AB2 216-220 ORDO:98964 denotes LCDI
AB3 513-545 ORDO:98964 denotes lattice corneal dystrophy type I
AB4 1122-1126 ORDO:98964 denotes LCD1

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 336-342 http://purl.obolibrary.org/obo/UBERON_0000964 denotes cornea
PD-UBERON-AE-B_T2 1135-1139 http://purl.obolibrary.org/obo/UBERON_0000970 denotes eyes

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 336-342 http://purl.obolibrary.org/obo/UBERON_0000964 denotes cornea
PD-UBERON-AE-B_T2 1135-1139 http://purl.obolibrary.org/obo/UBERON_0000970 denotes eyes

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 63-68 ProteinMutation:p|SUB|R|124|C denotes R124C
T2 654-659 ProteinMutation:p|SUB|R|124|C denotes R124C
T3 1641-1646 DNAMutation:c|SUB|C|417|T denotes C417T
T4 1684-1689 ProteinMutation:p|SUB|R|124|C denotes R124C
T5 1872-1877 ProteinMutation:p|SUB|R|124|C denotes R124C