PubMed:17962394
Annnotations
TEST-DiseaseOrPhenotypicFeature
Id | Subject | Object | Predicate | Lexical cue | #label |
---|---|---|---|---|---|
T1 | 173-187 | DiseaseOrPhenotypicFeature | denotes | genetic defect | DISEASE |
TEST-ChemicalEntity
Id | Subject | Object | Predicate | Lexical cue | ID: |
---|---|---|---|---|---|
T1 | 571-579 | ChemicalEntity | denotes | androgen | ChemicalEntity |
T2 | 789-797 | ChemicalEntity | denotes | arginine | http://purl.obolibrary.org/obo/CHEBI_32696|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_16467 |
T5 | 828-835 | ChemicalEntity | denotes | glycine | http://purl.obolibrary.org/obo/CHEBI_57305|http://purl.obolibrary.org/obo/CHEBI_29947|http://purl.obolibrary.org/obo/CHEBI_15428 |
Test-SequenceVariant
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 77-84 | SequenceVariant | denotes | p.R229G |
T2 | 725-733 | SequenceVariant | denotes | c.686C>G |
T3 | 837-844 | SequenceVariant | denotes | p.R229G |
T4 | 1179-1186 | SequenceVariant | denotes | p.R229G |
Test-GeneOrGeneProduct
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 111-116 | GeneOrGeneProduct | denotes | FRMD7 |
T2 | 254-258 | GeneOrGeneProduct | denotes | Xp11 |
T3 | 352-357 | GeneOrGeneProduct | denotes | FRMD7 |
T4 | 399-411 | GeneOrGeneProduct | denotes | X chromosome |
T5 | 571-588 | GeneOrGeneProduct | denotes | androgen receptor |
T6 | 863-868 | GeneOrGeneProduct | denotes | FRMD7 |
T7 | 1203-1208 | GeneOrGeneProduct | denotes | FRMD7 |
Test-merged
Id | Subject | Object | Predicate | Lexical cue | #label | ID: |
---|---|---|---|---|---|---|
T1 | 173-187 | DiseaseOrPhenotypicFeature | denotes | genetic defect | DISEASE | |
T7 | 1203-1208 | GeneOrGeneProduct | denotes | FRMD7 | ||
T6 | 863-868 | GeneOrGeneProduct | denotes | FRMD7 | ||
T5 | 571-588 | GeneOrGeneProduct | denotes | androgen receptor | ||
T4 | 399-411 | GeneOrGeneProduct | denotes | X chromosome | ||
T3 | 352-357 | GeneOrGeneProduct | denotes | FRMD7 | ||
T2 | 254-258 | GeneOrGeneProduct | denotes | Xp11 | ||
T5223 | 111-116 | GeneOrGeneProduct | denotes | FRMD7 | ||
T22164 | 828-835 | ChemicalEntity | denotes | glycine | http://purl.obolibrary.org/obo/CHEBI_15428|http://purl.obolibrary.org/obo/CHEBI_29947|http://purl.obolibrary.org/obo/CHEBI_57305 | |
T47011 | 789-797 | ChemicalEntity | denotes | arginine | http://purl.obolibrary.org/obo/CHEBI_16467|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_32696 | |
T5327 | 1179-1186 | SequenceVariant | denotes | p.R229G | ||
T86947 | 837-844 | SequenceVariant | denotes | p.R229G | ||
T61695 | 725-733 | SequenceVariant | denotes | c.686C>G | ||
T26469 | 77-84 | SequenceVariant | denotes | p.R229G |
Test-merged-2
Id | Subject | Object | Predicate | Lexical cue | #label | ID: |
---|---|---|---|---|---|---|
T26469 | 77-84 | SequenceVariant | denotes | p.R229G | ||
T61695 | 725-733 | SequenceVariant | denotes | c.686C>G | ||
T86947 | 837-844 | SequenceVariant | denotes | p.R229G | ||
T5327 | 1179-1186 | SequenceVariant | denotes | p.R229G | ||
T97569 | 571-579 | ChemicalEntity | denotes | androgen | ChemicalEntity | |
T47011 | 789-797 | ChemicalEntity | denotes | arginine | http://purl.obolibrary.org/obo/CHEBI_32696|http://purl.obolibrary.org/obo/CHEBI_29016|http://purl.obolibrary.org/obo/CHEBI_16467 | |
T22164 | 828-835 | ChemicalEntity | denotes | glycine | http://purl.obolibrary.org/obo/CHEBI_57305|http://purl.obolibrary.org/obo/CHEBI_29947|http://purl.obolibrary.org/obo/CHEBI_15428 | |
T5223 | 111-116 | GeneOrGeneProduct | denotes | FRMD7 | ||
T2 | 254-258 | GeneOrGeneProduct | denotes | Xp11 | ||
T3 | 352-357 | GeneOrGeneProduct | denotes | FRMD7 | ||
T4 | 399-411 | GeneOrGeneProduct | denotes | X chromosome | ||
T5 | 571-588 | GeneOrGeneProduct | denotes | androgen receptor | ||
T6 | 863-868 | GeneOrGeneProduct | denotes | FRMD7 | ||
T7 | 1203-1208 | GeneOrGeneProduct | denotes | FRMD7 | ||
T1 | 173-187 | DiseaseOrPhenotypicFeature | denotes | genetic defect | DISEASE |
DisGeNET
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T0 | 1203-1208 | gene:90167 | denotes | FRMD7 |
T1 | 1225-1228 | disease:C0028738 | denotes | NYS |
R1 | T0 | T1 | associated_with | FRMD7,NYS |
PubmedHPO
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 207-215 | HP_0001417 | denotes | X linked |
T2 | 216-225 | HP_0000639 | denotes | nystagmus |
DisGeNET5_variant_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
17962394-11#8#15#geners137852212 | 1179-1186 | geners137852212 | denotes | p.R229G |
17962394-11#54#57#diseaseC0028738 | 1225-1228 | diseaseC0028738 | denotes | NYS |
17962394-11#151#154#diseaseC0028738 | 1322-1325 | diseaseC0028738 | denotes | NYS |
8#15#geners13785221254#57#diseaseC0028738 | 17962394-11#8#15#geners137852212 | 17962394-11#54#57#diseaseC0028738 | associated_with | p.R229G,NYS |
8#15#geners137852212151#154#diseaseC0028738 | 17962394-11#8#15#geners137852212 | 17962394-11#151#154#diseaseC0028738 | associated_with | p.R229G,NYS |
DisGeNET5_gene_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
17962394-11#32#37#gene90167 | 1203-1208 | gene90167 | denotes | FRMD7 |
17962394-11#54#57#diseaseC0028738 | 1225-1228 | diseaseC0028738 | denotes | NYS |
32#37#gene9016754#57#diseaseC0028738 | 17962394-11#32#37#gene90167 | 17962394-11#54#57#diseaseC0028738 | associated_with | FRMD7,NYS |
tmVarCorpus
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 77-84 | ProteinMutation:p|SUB|R|229|G | denotes | p.R229G |
T2 | 725-733 | DNAMutation:c|SUB|C|686|G | denotes | c.686C>G |
T3 | 837-844 | ProteinMutation:p|SUB|R|229|G | denotes | p.R229G |
T4 | 1179-1186 | ProteinMutation:p|SUB|R|229|G | denotes | p.R229G |