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 |