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PubMed:16849419 JSONTXT

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LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-101 Sentence denotes Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria.
T2 102-110 Sentence denotes CONTEXT:
T3 111-352 Sentence denotes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder, characterized by hypophosphatemia and rickets/osteomalacia with increased serum 1,25-dihydroxyvitamin D [1,25-(OH)(2)D] resulting in hypercalciuria.
T4 353-363 Sentence denotes OBJECTIVE:
T5 364-532 Sentence denotes Our objective was to determine whether mutations in the SLC34A3 gene, which encodes sodium-phosphate cotransporter type IIc, are responsible for the occurrence of HHRH.
T6 533-552 Sentence denotes DESIGN AND SETTING:
T7 553-689 Sentence denotes Mutation analysis of exons and adjacent introns in the SLC34A3 gene was conducted at an academic research laboratory and medical center.
T8 690-721 Sentence denotes PATIENTS OR OTHER PARTICIPANTS:
T9 722-792 Sentence denotes Members of two unrelated families with HHRH participated in the study.
T10 793-801 Sentence denotes RESULTS:
T11 802-888 Sentence denotes Two affected siblings in one family were homozygous for a 101-bp deletion in intron 9.
T12 889-1001 Sentence denotes Haplotype analysis of the SLC34A3 locus in the family showed that the two deletions are on different haplotypes.
T13 1002-1158 Sentence denotes An unrelated individual with HHRH was a compound heterozygote for an 85-bp deletion in intron 10 and a G-to-A substitution at the last nucleotide in exon 7.
T14 1159-1272 Sentence denotes The intron 9 deletion (and likely the other two mutations) identified in this study causes aberrant RNA splicing.
T15 1273-1378 Sentence denotes Sequence analysis of the deleted regions revealed the presence of direct repeats of homologous sequences.
T16 1379-1449 Sentence denotes CONCLUSION: HHRH is caused by biallelic mutations in the SLC34A3 gene.
T17 1450-1530 Sentence denotes Haplotype analysis suggests that the two intron 9 deletions arose independently.
T18 1531-1724 Sentence denotes The identification of three independent deletions in introns 9 and 10 suggests that the SLC34A3 gene may be susceptible to unequal crossing over because of sequence misalignment during meiosis.

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
3242 26-33 GeneOrGeneProduct denotes SLC34A3 NCBIGene:142680
3243 45-100 DiseaseOrPhenotypicFeature denotes hereditary hypophosphatemic rickets with hypercalciuria MESH:C562793
3244 111-166 DiseaseOrPhenotypicFeature denotes Hereditary hypophosphatemic rickets with hypercalciuria MESH:C562793
3245 168-172 DiseaseOrPhenotypicFeature denotes HHRH MESH:C562793
3246 184-202 DiseaseOrPhenotypicFeature denotes metabolic disorder MESH:D008659
3247 221-237 DiseaseOrPhenotypicFeature denotes hypophosphatemia MESH:D017674
3248 242-249 DiseaseOrPhenotypicFeature denotes rickets MESH:D012279
3249 250-262 DiseaseOrPhenotypicFeature denotes osteomalacia MESH:D010018
3250 284-307 ChemicalEntity denotes 1,25-dihydroxyvitamin D MESH:C097949
3251 309-322 ChemicalEntity denotes 1,25-(OH)(2)D MESH:C097949
3252 337-351 DiseaseOrPhenotypicFeature denotes hypercalciuria MESH:D053565
3253 420-427 GeneOrGeneProduct denotes SLC34A3 NCBIGene:142680
3254 448-487 GeneOrGeneProduct denotes sodium-phosphate cotransporter type IIc NCBIGene:142680
3255 527-531 DiseaseOrPhenotypicFeature denotes HHRH MESH:C562793
3256 608-615 GeneOrGeneProduct denotes SLC34A3 NCBIGene:142680
3257 690-698 OrganismTaxon denotes PATIENTS NCBITaxon:9606
3258 761-765 DiseaseOrPhenotypicFeature denotes HHRH MESH:C562793
3259 860-875 SequenceVariant denotes 101-bp deletion c|DEL||101
3260 915-922 GeneOrGeneProduct denotes SLC34A3 NCBIGene:142680
3261 1031-1035 DiseaseOrPhenotypicFeature denotes HHRH MESH:C562793
3262 1071-1085 SequenceVariant denotes 85-bp deletion c|DEL||85
3263 1105-1111 SequenceVariant denotes G-to-A c|SUB|G||A
3264 1391-1395 DiseaseOrPhenotypicFeature denotes HHRH MESH:C562793
3265 1436-1443 GeneOrGeneProduct denotes SLC34A3 NCBIGene:142680
3266 1619-1626 GeneOrGeneProduct denotes SLC34A3 NCBIGene:142680

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 860-875 SequenceVariant denotes 101-bp deletion
T2 1071-1085 SequenceVariant denotes 85-bp deletion

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 45-100 DiseaseOrPhenotypicFeature denotes hereditary hypophosphatemic rickets with hypercalciuria 0009431
T2 45-80 DiseaseOrPhenotypicFeature denotes hereditary hypophosphatemic rickets 0000044
T3 56-80 DiseaseOrPhenotypicFeature denotes hypophosphatemic rickets 0024300
T4 73-80 DiseaseOrPhenotypicFeature denotes rickets 0005520
T5 111-166 DiseaseOrPhenotypicFeature denotes Hereditary hypophosphatemic rickets with hypercalciuria 0009431
T6 122-146 DiseaseOrPhenotypicFeature denotes hypophosphatemic rickets 0024300
T7 139-146 DiseaseOrPhenotypicFeature denotes rickets 0005520
T8 179-183 DiseaseOrPhenotypicFeature denotes rare 0021136
T9 221-237 DiseaseOrPhenotypicFeature denotes hypophosphatemia 0000313
T10 242-249 DiseaseOrPhenotypicFeature denotes rickets 0005520
T11 250-262 DiseaseOrPhenotypicFeature denotes osteomalacia 0001068

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 26-33 GeneOrGeneProduct denotes SLC34A3
T2 73-80 GeneOrGeneProduct denotes rickets
T3 139-146 GeneOrGeneProduct denotes rickets
T4 168-172 GeneOrGeneProduct denotes HHRH
T5 179-183 GeneOrGeneProduct denotes rare
T6 242-249 GeneOrGeneProduct denotes rickets
T7 385-394 GeneOrGeneProduct denotes determine
T8 403-412 GeneOrGeneProduct denotes mutations
T9 420-427 GeneOrGeneProduct denotes SLC34A3
T10 448-478 GeneOrGeneProduct denotes sodium-phosphate cotransporter
T11 484-487 GeneOrGeneProduct denotes IIc
T12 527-531 GeneOrGeneProduct denotes HHRH
T13 553-561 GeneOrGeneProduct denotes Mutation
T14 608-615 GeneOrGeneProduct denotes SLC34A3
T15 702-707 GeneOrGeneProduct denotes OTHER
T16 761-765 GeneOrGeneProduct denotes HHRH
T17 915-922 GeneOrGeneProduct denotes SLC34A3
T18 1031-1035 GeneOrGeneProduct denotes HHRH
T19 1132-1136 GeneOrGeneProduct denotes last
T20 1186-1192 GeneOrGeneProduct denotes likely
T21 1197-1202 GeneOrGeneProduct denotes other
T22 1207-1216 GeneOrGeneProduct denotes mutations
T23 1259-1271 GeneOrGeneProduct denotes RNA splicing
T24 1357-1367 GeneOrGeneProduct denotes homologous
T25 1391-1395 GeneOrGeneProduct denotes HHRH
T26 1419-1428 GeneOrGeneProduct denotes mutations
T27 1436-1443 GeneOrGeneProduct denotes SLC34A3
T28 1619-1626 GeneOrGeneProduct denotes SLC34A3

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 26-33 GeneOrGeneProduct denotes SLC34A3
T2 73-80 GeneOrGeneProduct denotes rickets
T3 139-146 GeneOrGeneProduct denotes rickets
T4 168-172 GeneOrGeneProduct denotes HHRH
T5 179-183 GeneOrGeneProduct denotes rare
T6 242-249 GeneOrGeneProduct denotes rickets
T7 420-427 GeneOrGeneProduct denotes SLC34A3
T8 448-478 GeneOrGeneProduct denotes sodium-phosphate cotransporter
T9 527-531 GeneOrGeneProduct denotes HHRH
T10 608-615 GeneOrGeneProduct denotes SLC34A3
T11 761-765 GeneOrGeneProduct denotes HHRH
T12 915-922 GeneOrGeneProduct denotes SLC34A3
T13 1031-1035 GeneOrGeneProduct denotes HHRH
T14 1197-1202 GeneOrGeneProduct denotes other
T15 1259-1271 GeneOrGeneProduct denotes RNA splicing
T16 1391-1395 GeneOrGeneProduct denotes HHRH
T17 1436-1443 GeneOrGeneProduct denotes SLC34A3
T18 1619-1626 GeneOrGeneProduct denotes SLC34A3

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 45-100 DiseaseOrPhenotypicFeature denotes hereditary hypophosphatemic rickets with hypercalciuria C562793
T2 111-166 DiseaseOrPhenotypicFeature denotes Hereditary hypophosphatemic rickets with hypercalciuria C562793
T3 168-172 DiseaseOrPhenotypicFeature denotes HHRH D053565
T4 221-237 DiseaseOrPhenotypicFeature denotes hypophosphatemia D017674
T5 242-249 DiseaseOrPhenotypicFeature denotes rickets D012279
T6 250-262 DiseaseOrPhenotypicFeature denotes osteomalacia D010018
T7 337-351 DiseaseOrPhenotypicFeature denotes hypercalciuria D053565
T8 527-531 DiseaseOrPhenotypicFeature denotes HHRH D053565
T9 761-765 DiseaseOrPhenotypicFeature denotes HHRH D053565
T10 1031-1035 DiseaseOrPhenotypicFeature denotes HHRH D053565
T11 1391-1395 DiseaseOrPhenotypicFeature denotes HHRH D053565

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 45-100 DiseaseOrPhenotypicFeature denotes hereditary hypophosphatemic rickets with hypercalciuria 0009431
T2 111-166 DiseaseOrPhenotypicFeature denotes Hereditary hypophosphatemic rickets with hypercalciuria 0009431
T3 168-172 DiseaseOrPhenotypicFeature denotes HHRH 0009431
T4 184-202 DiseaseOrPhenotypicFeature denotes metabolic disorder 0005066
T5 221-237 DiseaseOrPhenotypicFeature denotes hypophosphatemia 0000313
T6 242-249 DiseaseOrPhenotypicFeature denotes rickets 0005520
T7 250-262 DiseaseOrPhenotypicFeature denotes osteomalacia 0001068
T8 527-531 DiseaseOrPhenotypicFeature denotes HHRH 0009431
T9 761-765 DiseaseOrPhenotypicFeature denotes HHRH 0009431
T10 1031-1035 DiseaseOrPhenotypicFeature denotes HHRH 0009431
T11 1391-1395 DiseaseOrPhenotypicFeature denotes HHRH 0009431

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 26-33 GeneOrGeneProduct denotes SLC34A3
T2 420-427 GeneOrGeneProduct denotes SLC34A3
T3 448-478 GeneOrGeneProduct denotes sodium-phosphate cotransporter
T4 608-615 GeneOrGeneProduct denotes SLC34A3
T5 915-922 GeneOrGeneProduct denotes SLC34A3
T6 1259-1271 GeneOrGeneProduct denotes RNA splicing
T7 1436-1443 GeneOrGeneProduct denotes SLC34A3
T8 1619-1626 GeneOrGeneProduct denotes SLC34A3

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 45-100 DiseaseOrPhenotypicFeature denotes hereditary hypophosphatemic rickets with hypercalciuria C562793
T2 111-166 DiseaseOrPhenotypicFeature denotes Hereditary hypophosphatemic rickets with hypercalciuria C562793
T3 168-172 DiseaseOrPhenotypicFeature denotes HHRH D053565
T4 184-202 DiseaseOrPhenotypicFeature denotes metabolic disorder DISEASE
T5 221-237 DiseaseOrPhenotypicFeature denotes hypophosphatemia D017674
T6 242-249 DiseaseOrPhenotypicFeature denotes rickets D012279
T7 250-262 DiseaseOrPhenotypicFeature denotes osteomalacia D010018
T8 337-351 DiseaseOrPhenotypicFeature denotes hypercalciuria D053565
T9 527-531 DiseaseOrPhenotypicFeature denotes HHRH D053565
T10 761-765 DiseaseOrPhenotypicFeature denotes HHRH D053565
T11 1031-1035 DiseaseOrPhenotypicFeature denotes HHRH D053565
T12 1391-1395 DiseaseOrPhenotypicFeature denotes HHRH D053565

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 45-100 DiseaseOrPhenotypicFeature denotes hereditary hypophosphatemic rickets with hypercalciuria C562793
T2 111-166 DiseaseOrPhenotypicFeature denotes Hereditary hypophosphatemic rickets with hypercalciuria C562793
T3 168-172 DiseaseOrPhenotypicFeature denotes HHRH D053565
T4 184-202 DiseaseOrPhenotypicFeature denotes metabolic disorder DISEASE
T5 221-237 DiseaseOrPhenotypicFeature denotes hypophosphatemia D017674
T6 242-249 DiseaseOrPhenotypicFeature denotes rickets D012279
T7 250-262 DiseaseOrPhenotypicFeature denotes osteomalacia D010018
T8 337-351 DiseaseOrPhenotypicFeature denotes hypercalciuria D053565
T9 527-531 DiseaseOrPhenotypicFeature denotes HHRH D053565
T10 761-765 DiseaseOrPhenotypicFeature denotes HHRH D053565
T11 1031-1035 DiseaseOrPhenotypicFeature denotes HHRH D053565
T12 1391-1395 DiseaseOrPhenotypicFeature denotes HHRH D053565

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 284-307 ChemicalEntity denotes 1,25-dihydroxyvitamin D ChemicalEntity
T2 309-322 ChemicalEntity denotes 1,25-(OH)(2)D ChemicalEntity
T3 448-464 ChemicalEntity denotes sodium-phosphate http://purl.obolibrary.org/obo/CHEBI_37586|http://purl.obolibrary.org/obo/CHEBI_37583|C018279

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T3 448-464 ChemicalEntity denotes sodium-phosphate http://purl.obolibrary.org/obo/CHEBI_37583|http://purl.obolibrary.org/obo/CHEBI_37586|C018279
T2 309-322 ChemicalEntity denotes 1,25-(OH)(2)D ChemicalEntity
T1 284-307 ChemicalEntity denotes 1,25-dihydroxyvitamin D ChemicalEntity
T8 1619-1626 GeneOrGeneProduct denotes SLC34A3
T7 1436-1443 GeneOrGeneProduct denotes SLC34A3
T6 1259-1271 GeneOrGeneProduct denotes RNA splicing
T5 915-922 GeneOrGeneProduct denotes SLC34A3
T4 608-615 GeneOrGeneProduct denotes SLC34A3
T61425 448-478 GeneOrGeneProduct denotes sodium-phosphate cotransporter
T79628 420-427 GeneOrGeneProduct denotes SLC34A3
T41564 26-33 GeneOrGeneProduct denotes SLC34A3
T12 1391-1395 DiseaseOrPhenotypicFeature denotes HHRH D053565
T11 1031-1035 DiseaseOrPhenotypicFeature denotes HHRH D053565
T10 761-765 DiseaseOrPhenotypicFeature denotes HHRH D053565
T9 527-531 DiseaseOrPhenotypicFeature denotes HHRH D053565
T54795 337-351 DiseaseOrPhenotypicFeature denotes hypercalciuria D053565
T56309 250-262 DiseaseOrPhenotypicFeature denotes osteomalacia D010018
T32187 242-249 DiseaseOrPhenotypicFeature denotes rickets D012279
T69129 221-237 DiseaseOrPhenotypicFeature denotes hypophosphatemia D017674
T88866 184-202 DiseaseOrPhenotypicFeature denotes metabolic disorder DISEASE
T8995 168-172 DiseaseOrPhenotypicFeature denotes HHRH D053565
T72925 111-166 DiseaseOrPhenotypicFeature denotes Hereditary hypophosphatemic rickets with hypercalciuria C562793
T68886 45-100 DiseaseOrPhenotypicFeature denotes hereditary hypophosphatemic rickets with hypercalciuria C562793
T81030 1071-1085 SequenceVariant denotes 85-bp deletion
T95620 860-875 SequenceVariant denotes 101-bp deletion

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
16849419-0#26#33#gene142680 26-33 gene142680 denotes SLC34A3
16849419-0#45#80#diseaseC0733682 45-80 diseaseC0733682 denotes hereditary hypophosphatemic rickets
16849419-0#45#80#diseaseC3536983 45-80 diseaseC3536983 denotes hereditary hypophosphatemic rickets
16849419-0#86#100#diseaseC0020438 86-100 diseaseC0020438 denotes hypercalciuria
26#33#gene14268045#80#diseaseC0733682 16849419-0#26#33#gene142680 16849419-0#45#80#diseaseC0733682 associated_with SLC34A3,hereditary hypophosphatemic rickets
26#33#gene14268045#80#diseaseC3536983 16849419-0#26#33#gene142680 16849419-0#45#80#diseaseC3536983 associated_with SLC34A3,hereditary hypophosphatemic rickets
26#33#gene14268086#100#diseaseC0020438 16849419-0#26#33#gene142680 16849419-0#86#100#diseaseC0020438 associated_with SLC34A3,hypercalciuria

DisGeNET

Id Subject Object Predicate Lexical cue
T0 1619-1626 gene:142680 denotes SLC34A3
T1 1696-1708 disease:C1275957 denotes misalignment
R1 T0 T1 associated_with SLC34A3,misalignment