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LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-112 Sentence denotes Mutation analysis of FOXF2 in patients with disorders of sex development (DSD) in combination with cleft palate.
T2 113-334 Sentence denotes In contrast to disorders of sexual differentiation caused by lack of androgen production or inhibited androgen action, defects affecting development of the bipotent genital anlagen have rarely been investigated in humans.
T3 335-439 Sentence denotes We have previously documented that the transcription factor FOXF2 is highly expressed in human foreskin.
T4 440-551 Sentence denotes Moreover, Foxf2 knockout mice present with cleft palate in combination with hypoplasia of the genital tubercle.
T5 552-692 Sentence denotes We hypothesized that humans with disorders of sex development (DSD) in combination with cleft palate could have mutations in the FOXF2 gene.
T6 693-802 Sentence denotes Eighteen children with DSD and cleft palate were identified in the Lübeck DSD database (about 1,500 entries).
T7 803-942 Sentence denotes Genomic DNA sequence analysis of the FOXF2 gene was performed and compared with 10 normal female and 10 normal male controls, respectively.
T8 943-1209 Sentence denotes Two heterozygous DNA sequence variations were solely present in one single patient each but in none of the 20 normal controls: a duplication of GCC (c.97GCC[9]+[10]) resulting in an extra alanine within exon 1 and a 25*G>A substitution in the 3'-untranslated region.
T9 1210-1342 Sentence denotes Two patients carried a c.262G>A sequence variation predicting for an Ala88Thr exchange which was also detected in 2 normal controls.
T10 1343-1512 Sentence denotes Two silent mutations, c.1272C>T (Ser424Ser) and c.1284T>C (Tyr428Tyr), respectively, occurred in the coding region of exon 2, again in both patients and normal controls.
T11 1513-1634 Sentence denotes In conclusion, the majority of the detected sequence alterations were polymorphisms without obvious functional relevance.
T12 1635-1845 Sentence denotes However, it cannot be excluded that the 2 unique DNA sequence alterations could have affected FOXF2 on the mRNA or protein level thus contributing to the observed disturbances in genital and palate development.

LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 327-333 OrganismTaxon denotes humans NCBItxid:9605
T2 424-429 OrganismTaxon denotes human NCBItxid:9606
T3 465-469 OrganismTaxon denotes mice NCBItxid:10095|NCBItxid:10088
T5 573-579 OrganismTaxon denotes humans NCBItxid:9605

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
5820 21-26 GeneOrGeneProduct denotes FOXF2 NCBIGene:2295
5821 30-38 OrganismTaxon denotes patients NCBITaxon:9606
5822 44-72 DiseaseOrPhenotypicFeature denotes disorders of sex development MESH:D012734
5823 74-77 DiseaseOrPhenotypicFeature denotes DSD MESH:D012734
5824 99-111 DiseaseOrPhenotypicFeature denotes cleft palate MESH:D002972
5825 128-163 DiseaseOrPhenotypicFeature denotes disorders of sexual differentiation MESH:D012734
5826 182-190 ChemicalEntity denotes androgen MESH:D000728
5827 215-223 ChemicalEntity denotes androgen MESH:D000728
5828 327-333 OrganismTaxon denotes humans NCBITaxon:9606
5829 395-400 GeneOrGeneProduct denotes FOXF2 NCBIGene:2295
5830 424-429 OrganismTaxon denotes human NCBITaxon:9606
5831 450-455 GeneOrGeneProduct denotes Foxf2 NCBIGene:14238
5832 465-469 OrganismTaxon denotes mice NCBITaxon:10090
5833 483-495 DiseaseOrPhenotypicFeature denotes cleft palate MESH:D002972
5834 516-550 DiseaseOrPhenotypicFeature denotes hypoplasia of the genital tubercle MESH:C537540
5835 573-579 OrganismTaxon denotes humans NCBITaxon:9606
5836 585-613 DiseaseOrPhenotypicFeature denotes disorders of sex development MESH:D012734
5837 615-618 DiseaseOrPhenotypicFeature denotes DSD MESH:D012734
5838 640-652 DiseaseOrPhenotypicFeature denotes cleft palate MESH:D002972
5839 681-686 GeneOrGeneProduct denotes FOXF2 NCBIGene:2295
5840 716-719 DiseaseOrPhenotypicFeature denotes DSD MESH:D012734
5841 724-736 DiseaseOrPhenotypicFeature denotes cleft palate MESH:D002972
5842 767-770 DiseaseOrPhenotypicFeature denotes DSD MESH:D012734
5843 840-845 GeneOrGeneProduct denotes FOXF2 NCBIGene:2295
5844 1018-1025 OrganismTaxon denotes patient NCBITaxon:9606
5845 1072-1090 SequenceVariant denotes duplication of GCC c|DUP||GCC|
5846 1092-1107 SequenceVariant denotes c.97GCC[9]+[10] c|DUP|97|GCC|9-10
5847 1159-1165 SequenceVariant denotes 25*G>A c|SUB|G|*25|A
5848 1214-1222 OrganismTaxon denotes patients NCBITaxon:9606
5849 1233-1241 SequenceVariant denotes c.262G>A DBSNP:rs72667003
5850 1279-1287 SequenceVariant denotes Ala88Thr DBSNP:rs72667003
5851 1365-1374 SequenceVariant denotes c.1272C>T DBSNP:rs61753348
5852 1376-1385 SequenceVariant denotes Ser424Ser DBSNP:rs61753348
5853 1391-1400 SequenceVariant denotes c.1284T>C DBSNP:rs2293783
5854 1402-1411 SequenceVariant denotes Tyr428Tyr DBSNP:rs2293783
5855 1483-1491 OrganismTaxon denotes patients NCBITaxon:9606
5856 1729-1734 GeneOrGeneProduct denotes FOXF2 NCBIGene:2295

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 99-111 DiseaseOrPhenotypicFeature denotes cleft palate 0016064
T2 299-305 DiseaseOrPhenotypicFeature denotes rarely 0021136
T3 483-495 DiseaseOrPhenotypicFeature denotes cleft palate 0016064
T4 640-652 DiseaseOrPhenotypicFeature denotes cleft palate 0016064
T5 724-736 DiseaseOrPhenotypicFeature denotes cleft palate 0016064

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 1094-1099 SequenceVariant denotes 97GCC
T2 1233-1241 SequenceVariant denotes c.262G>A
T3 1279-1287 SequenceVariant denotes Ala88Thr
T4 1365-1374 SequenceVariant denotes c.1272C>T
T5 1376-1385 SequenceVariant denotes Ser424Ser
T6 1391-1400 SequenceVariant denotes c.1284T>C
T7 1402-1411 SequenceVariant denotes Tyr428Tyr

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 0-8 GeneOrGeneProduct denotes Mutation
T2 21-26 GeneOrGeneProduct denotes FOXF2
T3 99-104 GeneOrGeneProduct denotes cleft
T4 116-124 GeneOrGeneProduct denotes contrast
T5 174-178 GeneOrGeneProduct denotes lack
T6 191-201 GeneOrGeneProduct denotes production
T7 232-239 GeneOrGeneProduct denotes defects
T8 299-305 GeneOrGeneProduct denotes rarely
T9 374-394 GeneOrGeneProduct denotes transcription factor
T10 395-400 GeneOrGeneProduct denotes FOXF2
T11 404-410 GeneOrGeneProduct denotes highly
T12 450-455 GeneOrGeneProduct denotes Foxf2
T13 456-464 GeneOrGeneProduct denotes knockout
T14 465-469 GeneOrGeneProduct denotes mice
T15 483-488 GeneOrGeneProduct denotes cleft
T16 640-645 GeneOrGeneProduct denotes cleft
T17 664-673 GeneOrGeneProduct denotes mutations
T18 681-686 GeneOrGeneProduct denotes FOXF2
T19 724-729 GeneOrGeneProduct denotes cleft
T20 840-845 GeneOrGeneProduct denotes FOXF2
T21 914-918 GeneOrGeneProduct denotes male
T22 1038-1042 GeneOrGeneProduct denotes none
T23 1072-1083 GeneOrGeneProduct denotes duplication
T24 1087-1090 GeneOrGeneProduct denotes GCC
T25 1125-1130 GeneOrGeneProduct denotes extra
T26 1131-1138 GeneOrGeneProduct denotes alanine
T27 1151-1156 GeneOrGeneProduct denotes 1 and
T28 1261-1271 GeneOrGeneProduct denotes predicting
T29 1321-1325 GeneOrGeneProduct denotes in 2
T30 1354-1363 GeneOrGeneProduct denotes mutations
T31 1532-1540 GeneOrGeneProduct denotes majority
T32 1729-1734 GeneOrGeneProduct denotes FOXF2
T33 1742-1746 GeneOrGeneProduct denotes mRNA
T34 1750-1757 GeneOrGeneProduct denotes protein

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 21-26 GeneOrGeneProduct denotes FOXF2
T2 99-104 GeneOrGeneProduct denotes cleft
T3 174-178 GeneOrGeneProduct denotes lack
T4 374-394 GeneOrGeneProduct denotes transcription factor
T5 395-400 GeneOrGeneProduct denotes FOXF2
T6 450-455 GeneOrGeneProduct denotes Foxf2
T7 456-464 GeneOrGeneProduct denotes knockout
T8 483-488 GeneOrGeneProduct denotes cleft
T9 640-645 GeneOrGeneProduct denotes cleft
T10 681-686 GeneOrGeneProduct denotes FOXF2
T11 724-729 GeneOrGeneProduct denotes cleft
T12 840-845 GeneOrGeneProduct denotes FOXF2
T13 1038-1042 GeneOrGeneProduct denotes none
T14 1087-1090 GeneOrGeneProduct denotes GCC
T15 1125-1130 GeneOrGeneProduct denotes extra
T16 1131-1138 GeneOrGeneProduct denotes alanine
T17 1729-1734 GeneOrGeneProduct denotes FOXF2
T18 1742-1746 GeneOrGeneProduct denotes mRNA
T19 1750-1757 GeneOrGeneProduct denotes protein

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 44-72 DiseaseOrPhenotypicFeature denotes disorders of sex development D012734
T2 74-77 DiseaseOrPhenotypicFeature denotes DSD D012734
T3 99-111 DiseaseOrPhenotypicFeature denotes cleft palate D002972
T4 128-163 DiseaseOrPhenotypicFeature denotes disorders of sexual differentiation D012734
T5 182-190 DiseaseOrPhenotypicFeature denotes androgen D014770
T6 215-223 DiseaseOrPhenotypicFeature denotes androgen D014770
T7 483-495 DiseaseOrPhenotypicFeature denotes cleft palate D002972
T8 585-613 DiseaseOrPhenotypicFeature denotes disorders of sex development D012734
T9 615-618 DiseaseOrPhenotypicFeature denotes DSD D012734
T10 640-652 DiseaseOrPhenotypicFeature denotes cleft palate D002972
T11 716-719 DiseaseOrPhenotypicFeature denotes DSD D012734
T12 724-736 DiseaseOrPhenotypicFeature denotes cleft palate D002972
T13 767-770 DiseaseOrPhenotypicFeature denotes DSD D012734

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 21-26 GeneOrGeneProduct denotes FOXF2
T2 374-394 GeneOrGeneProduct denotes transcription factor
T3 395-400 GeneOrGeneProduct denotes FOXF2
T4 450-455 GeneOrGeneProduct denotes Foxf2
T5 681-686 GeneOrGeneProduct denotes FOXF2
T6 840-845 GeneOrGeneProduct denotes FOXF2
T7 1087-1090 GeneOrGeneProduct denotes GCC
T8 1125-1130 GeneOrGeneProduct denotes extra
T9 1729-1734 GeneOrGeneProduct denotes FOXF2

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 44-78 DiseaseOrPhenotypicFeature denotes disorders of sex development (DSD) 0002145
T2 99-111 DiseaseOrPhenotypicFeature denotes cleft palate 0016064|0007336
T4 128-163 DiseaseOrPhenotypicFeature denotes disorders of sexual differentiation 0002145
T5 483-495 DiseaseOrPhenotypicFeature denotes cleft palate 0016064|0007336
T7 585-619 DiseaseOrPhenotypicFeature denotes disorders of sex development (DSD) 0002145
T8 640-652 DiseaseOrPhenotypicFeature denotes cleft palate 0016064|0007336
T10 716-719 DiseaseOrPhenotypicFeature denotes DSD 0002145
T11 724-736 DiseaseOrPhenotypicFeature denotes cleft palate 0016064|0007336
T13 767-770 DiseaseOrPhenotypicFeature denotes DSD 0002145
T14 1087-1090 DiseaseOrPhenotypicFeature denotes GCC 0018017

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 44-72 DiseaseOrPhenotypicFeature denotes disorders of sex development D012734
T2 74-77 DiseaseOrPhenotypicFeature denotes DSD D012734
T3 99-111 DiseaseOrPhenotypicFeature denotes cleft palate D002972
T4 128-163 DiseaseOrPhenotypicFeature denotes disorders of sexual differentiation D012734
T5 483-495 DiseaseOrPhenotypicFeature denotes cleft palate D002972
T6 516-550 DiseaseOrPhenotypicFeature denotes hypoplasia of the genital tubercle DISEASE
T7 585-613 DiseaseOrPhenotypicFeature denotes disorders of sex development D012734
T8 615-618 DiseaseOrPhenotypicFeature denotes DSD D012734
T9 640-652 DiseaseOrPhenotypicFeature denotes cleft palate D002972
T10 716-719 DiseaseOrPhenotypicFeature denotes DSD D012734
T11 724-736 DiseaseOrPhenotypicFeature denotes cleft palate D002972
T12 767-770 DiseaseOrPhenotypicFeature denotes DSD D012734

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 44-72 DiseaseOrPhenotypicFeature denotes disorders of sex development D012734
T2 74-77 DiseaseOrPhenotypicFeature denotes DSD D012734
T3 99-111 DiseaseOrPhenotypicFeature denotes cleft palate D002972
T4 128-163 DiseaseOrPhenotypicFeature denotes disorders of sexual differentiation D012734
T5 483-495 DiseaseOrPhenotypicFeature denotes cleft palate D002972
T6 516-550 DiseaseOrPhenotypicFeature denotes hypoplasia of the genital tubercle DISEASE
T7 585-613 DiseaseOrPhenotypicFeature denotes disorders of sex development D012734
T8 615-618 DiseaseOrPhenotypicFeature denotes DSD D012734
T9 640-652 DiseaseOrPhenotypicFeature denotes cleft palate D002972
T10 716-719 DiseaseOrPhenotypicFeature denotes DSD D012734
T11 724-736 DiseaseOrPhenotypicFeature denotes cleft palate D002972
T12 767-770 DiseaseOrPhenotypicFeature denotes DSD D012734

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 30-38 OrganismTaxon denotes patients
T2 327-333 OrganismTaxon denotes humans
T3 424-429 OrganismTaxon denotes human
T4 465-469 OrganismTaxon denotes mice
T5 573-579 OrganismTaxon denotes humans
T6 1018-1025 OrganismTaxon denotes patient
T7 1214-1222 OrganismTaxon denotes patients
T8 1483-1491 OrganismTaxon denotes patients

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 182-190 ChemicalEntity denotes androgen ChemicalEntity
T2 215-223 ChemicalEntity denotes androgen ChemicalEntity
T3 1131-1138 ChemicalEntity denotes alanine http://purl.obolibrary.org/obo/CHEBI_16449

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T3 1131-1138 ChemicalEntity denotes alanine http://purl.obolibrary.org/obo/CHEBI_16449
T2 215-223 ChemicalEntity denotes androgen ChemicalEntity
T1 182-190 ChemicalEntity denotes androgen ChemicalEntity
T9 1729-1734 GeneOrGeneProduct denotes FOXF2
T8 1125-1130 GeneOrGeneProduct denotes extra
T7 1087-1090 GeneOrGeneProduct denotes GCC
T6 840-845 GeneOrGeneProduct denotes FOXF2
T5 681-686 GeneOrGeneProduct denotes FOXF2
T4 450-455 GeneOrGeneProduct denotes Foxf2
T58744 395-400 GeneOrGeneProduct denotes FOXF2
T19595 374-394 GeneOrGeneProduct denotes transcription factor
T92056 21-26 GeneOrGeneProduct denotes FOXF2
T12 767-770 DiseaseOrPhenotypicFeature denotes DSD D012734
T11 724-736 DiseaseOrPhenotypicFeature denotes cleft palate D002972
T10 716-719 DiseaseOrPhenotypicFeature denotes DSD D012734
T12171 640-652 DiseaseOrPhenotypicFeature denotes cleft palate D002972
T29990 615-618 DiseaseOrPhenotypicFeature denotes DSD D012734
T99194 585-613 DiseaseOrPhenotypicFeature denotes disorders of sex development D012734
T25061 516-550 DiseaseOrPhenotypicFeature denotes hypoplasia of the genital tubercle DISEASE
T3509 483-495 DiseaseOrPhenotypicFeature denotes cleft palate D002972
T36955 128-163 DiseaseOrPhenotypicFeature denotes disorders of sexual differentiation D012734
T75150 99-111 DiseaseOrPhenotypicFeature denotes cleft palate D002972
T82720 74-77 DiseaseOrPhenotypicFeature denotes DSD D012734
T24817 44-72 DiseaseOrPhenotypicFeature denotes disorders of sex development D012734
T23477 1483-1491 OrganismTaxon denotes patients
T76097 1214-1222 OrganismTaxon denotes patients
T86491 1018-1025 OrganismTaxon denotes patient
T21729 573-579 OrganismTaxon denotes humans
T1565 465-469 OrganismTaxon denotes mice
T37826 424-429 OrganismTaxon denotes human
T1810 327-333 OrganismTaxon denotes humans
T7778 30-38 OrganismTaxon denotes patients
T98671 1402-1411 SequenceVariant denotes Tyr428Tyr
T17655 1391-1400 SequenceVariant denotes c.1284T>C
T58821 1376-1385 SequenceVariant denotes Ser424Ser
T54334 1365-1374 SequenceVariant denotes c.1272C>T
T37935 1279-1287 SequenceVariant denotes Ala88Thr
T79207 1233-1241 SequenceVariant denotes c.262G>A
T20146 1094-1099 SequenceVariant denotes 97GCC

PMID_GLOBAL

Id Subject Object Predicate Lexical cue mondo_id
T1 44-78 DiseaseOrPhenotypicFeature denotes disorders of sex development (DSD) 0002145
T2 99-111 DiseaseOrPhenotypicFeature denotes cleft palate 0007336|0016064
T4 128-163 DiseaseOrPhenotypicFeature denotes disorders of sexual differentiation 0002145
T5 483-495 DiseaseOrPhenotypicFeature denotes cleft palate 0007336|0016064
T7 585-619 DiseaseOrPhenotypicFeature denotes disorders of sex development (DSD) 0002145
T8 640-652 DiseaseOrPhenotypicFeature denotes cleft palate 0007336|0016064
T10 716-719 DiseaseOrPhenotypicFeature denotes DSD 0002145
T11 724-736 DiseaseOrPhenotypicFeature denotes cleft palate 0007336|0016064
T13 767-770 DiseaseOrPhenotypicFeature denotes DSD 0002145
T14 1087-1090 DiseaseOrPhenotypicFeature denotes GCC 0018017

DisGeNET

Id Subject Object Predicate Lexical cue
T0 21-26 gene:2295 denotes FOXF2
T1 44-72 disease:C0036875 denotes disorders of sex development
T2 21-26 gene:2295 denotes FOXF2
T3 74-77 disease:C0036875 denotes DSD
T4 21-26 gene:2295 denotes FOXF2
T5 99-111 disease:C0008925 denotes cleft palate
T6 450-455 gene:2295 denotes Foxf2
T7 483-495 disease:C0008925 denotes cleft palate
T8 681-686 gene:2295 denotes FOXF2
T9 585-613 disease:C0036875 denotes disorders of sex development
T10 681-686 gene:2295 denotes FOXF2
T11 615-618 disease:C0036875 denotes DSD
T12 681-686 gene:2295 denotes FOXF2
T13 640-652 disease:C0008925 denotes cleft palate
R1 T0 T1 associated_with FOXF2,disorders of sex development
R2 T2 T3 associated_with FOXF2,DSD
R3 T4 T5 associated_with FOXF2,cleft palate
R4 T6 T7 associated_with Foxf2,cleft palate
R5 T8 T9 associated_with FOXF2,disorders of sex development
R6 T10 T11 associated_with FOXF2,DSD
R7 T12 T13 associated_with FOXF2,cleft palate

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 1092-1107 DNAMutation:c|DUP|97|GCC|9-10 denotes c.97GCC[9]+[10]
T2 1159-1165 DNAMutation:c|SUB|G|*25|A denotes 25*G>A
T3 1233-1241 DNAMutation:c|SUB|G|262|A denotes c.262G>A
T4 1279-1287 ProteinMutation:p|SUB|A|88|T denotes Ala88Thr
T5 1365-1374 DNAMutation:c|SUB|C|1272|T denotes c.1272C>T
T6 1376-1385 ProteinMutation:p|SUB|S|424|S denotes Ser424Ser
T7 1391-1400 DNAMutation:c|SUB|T|1284|C denotes c.1284T>C
T8 1402-1411 ProteinMutation:p|SUB|Y|428|Y denotes Tyr428Tyr