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PubMed:17059986 / 584-900 JSONTXT

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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
17059986_0 124-168 ProteinMutation denotes serine by leucine at amino acid position 555 rs148038173
17059986_1 170-181 ProteinMutation denotes p.Ser555Leu rs148038173

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T5 0-316 Sentence denotes However, mutation analysis showed that the proband is a compound heterozygote for 2 mutations in SLC12A3: a substitution of serine by leucine at amino acid position 555 (p.Ser555Leu) and a novel guanine to cytosine transition at the 5' splice site of intron 22 (c.2633+1G>C), providing the molecular diagnosis of GS.

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
3545 97-104 GeneOrGeneProduct denotes SLC12A3 NCBIGene:6559
3546 124-168 SequenceVariant denotes serine by leucine at amino acid position 555 DBSNP:rs148038173
3547 170-181 SequenceVariant denotes p.Ser555Leu DBSNP:rs148038173
3548 195-214 SequenceVariant denotes guanine to cytosine c|SUB|G||C
3549 262-273 SequenceVariant denotes c.2633+1G>C c|SUB|G|2633+1|C
3550 313-315 DiseaseOrPhenotypicFeature denotes GS MESH:D053579

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 170-181 SequenceVariant denotes p.Ser555Leu
T2 262-273 SequenceVariant denotes c.2633+1G>C

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T12 97-104 GeneOrGeneProduct denotes SLC12A3
T13 145-155 GeneOrGeneProduct denotes amino acid
T14 189-194 GeneOrGeneProduct denotes novel

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T20 9-17 GeneOrGeneProduct denotes mutation
T21 84-93 GeneOrGeneProduct denotes mutations
T22 97-104 GeneOrGeneProduct denotes SLC12A3
T23 145-155 GeneOrGeneProduct denotes amino acid
T24 189-194 GeneOrGeneProduct denotes novel
T25 236-242 GeneOrGeneProduct denotes splice
T26 313-315 GeneOrGeneProduct denotes GS

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T12 313-315 DiseaseOrPhenotypicFeature denotes GS D053579

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T2 97-104 GeneOrGeneProduct denotes SLC12A3

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T14 313-315 DiseaseOrPhenotypicFeature denotes GS 0005773|0009904

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T14 313-315 DiseaseOrPhenotypicFeature denotes GS D053579

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T14 313-315 DiseaseOrPhenotypicFeature denotes GS D053579

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 124-130 ChemicalEntity denotes serine http://purl.obolibrary.org/obo/CHEBI_17822
T2 134-141 ChemicalEntity denotes leucine http://purl.obolibrary.org/obo/CHEBI_25017
T3 195-202 ChemicalEntity denotes guanine D006147|http://purl.obolibrary.org/obo/CHEBI_16235
T5 206-214 ChemicalEntity denotes cytosine D003596|http://purl.obolibrary.org/obo/CHEBI_16040

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T5 206-214 ChemicalEntity denotes cytosine http://purl.obolibrary.org/obo/CHEBI_16040|D003596
T3 195-202 ChemicalEntity denotes guanine http://purl.obolibrary.org/obo/CHEBI_16235|D006147
T2 134-141 ChemicalEntity denotes leucine http://purl.obolibrary.org/obo/CHEBI_25017
T1 124-130 ChemicalEntity denotes serine http://purl.obolibrary.org/obo/CHEBI_17822
T36179 97-104 GeneOrGeneProduct denotes SLC12A3
T14 313-315 DiseaseOrPhenotypicFeature denotes GS D053579
T33809 262-273 SequenceVariant denotes c.2633+1G>C
T51166 170-181 SequenceVariant denotes p.Ser555Leu

sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T5 0-316 Sentence denotes However, mutation analysis showed that the proband is a compound heterozygote for 2 mutations in SLC12A3: a substitution of serine by leucine at amino acid position 555 (p.Ser555Leu) and a novel guanine to cytosine transition at the 5' splice site of intron 22 (c.2633+1G>C), providing the molecular diagnosis of GS.
T5 0-316 Sentence denotes However, mutation analysis showed that the proband is a compound heterozygote for 2 mutations in SLC12A3: a substitution of serine by leucine at amino acid position 555 (p.Ser555Leu) and a novel guanine to cytosine transition at the 5' splice site of intron 22 (c.2633+1G>C), providing the molecular diagnosis of GS.

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
17059986-4#170#181#geners148038173 170-181 geners148038173 denotes p.Ser555Leu
17059986-4#313#315#diseaseC0268450 313-315 diseaseC0268450 denotes GS
170#181#geners148038173313#315#diseaseC0268450 17059986-4#170#181#geners148038173 17059986-4#313#315#diseaseC0268450 associated_with p.Ser555Leu,GS

tmVarCorpus

Id Subject Object Predicate Lexical cue
T1 170-181 ProteinMutation:p|SUB|S|555|L denotes p.Ser555Leu
T2 262-273 DNAMutation:c|SUB|G|2633+1|C denotes c.2633+1G>C