PubMed:17059986 / 584-900
Annnotations
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 |