PubMed:10200283
Annnotations
PMID_GLOBAL
| Id | Subject | Object | Predicate | Lexical cue | mondo_id |
|---|---|---|---|---|---|
| T1 | 18-32 | DiseaseOrPhenotypicFeature | denotes | achondroplasia | 0007037 |
| T2 | 92-106 | DiseaseOrPhenotypicFeature | denotes | Achondroplasia | 0007037 |
| T3 | 163-179 | DiseaseOrPhenotypicFeature | denotes | genetic disorder | 0003847 |
| T4 | 337-351 | DiseaseOrPhenotypicFeature | denotes | achondroplasia | 0007037 |
| T5 | 1078-1092 | DiseaseOrPhenotypicFeature | denotes | achondroplasia | 0007037 |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10200283-1#116#121#geners28931614 | 208-213 | geners28931614 | denotes | G380R |
| 10200283-1#40#48#diseaseC0013336 | 132-140 | diseaseC0013336 | denotes | dwarfism |
| 116#121#geners2893161440#48#diseaseC0013336 | 10200283-1#116#121#geners28931614 | 10200283-1#40#48#diseaseC0013336 | associated_with | G380R,dwarfism |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10200283-1#154#189#gene2261 | 246-281 | gene2261 | denotes | fibroblast growth factor receptor 3 |
| 10200283-1#191#196#gene2261 | 283-288 | gene2261 | denotes | FGFR3 |
| 10200283-1#40#48#diseaseC0013336 | 132-140 | diseaseC0013336 | denotes | dwarfism |
| 10200283-3#132#137#gene2261 | 521-526 | gene2261 | denotes | FGFR3 |
| 10200283-3#165#180#diseaseC0020492 | 554-569 | diseaseC0020492 | denotes | bone overgrowth |
| 10200283-7#73#78#gene2261 | 1116-1121 | gene2261 | denotes | FGFR3 |
| 10200283-7#35#49#diseaseC0001080 | 1078-1092 | diseaseC0001080 | denotes | achondroplasia |
| 154#189#gene226140#48#diseaseC0013336 | 10200283-1#154#189#gene2261 | 10200283-1#40#48#diseaseC0013336 | associated_with | fibroblast growth factor receptor 3,dwarfism |
| 191#196#gene226140#48#diseaseC0013336 | 10200283-1#191#196#gene2261 | 10200283-1#40#48#diseaseC0013336 | associated_with | FGFR3,dwarfism |
| 132#137#gene2261165#180#diseaseC0020492 | 10200283-3#132#137#gene2261 | 10200283-3#165#180#diseaseC0020492 | associated_with | FGFR3,bone overgrowth |
| 73#78#gene226135#49#diseaseC0001080 | 10200283-7#73#78#gene2261 | 10200283-7#35#49#diseaseC0001080 | associated_with | FGFR3,achondroplasia |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 55-90 | gene:2261 | denotes | fibroblast growth factor receptor 3 |
| T1 | 18-32 | disease:C0001080 | denotes | achondroplasia |
| T2 | 283-288 | gene:2261 | denotes | FGFR3 |
| T3 | 132-140 | disease:C0013336 | denotes | dwarfism |
| T4 | 246-281 | gene:2261 | denotes | fibroblast growth factor receptor 3 |
| T5 | 163-179 | disease:C0019247 | denotes | genetic disorder |
| T6 | 283-288 | gene:2261 | denotes | FGFR3 |
| T7 | 163-179 | disease:C0019247 | denotes | genetic disorder |
| T8 | 246-281 | gene:2261 | denotes | fibroblast growth factor receptor 3 |
| T9 | 132-140 | disease:C0013336 | denotes | dwarfism |
| R1 | T0 | T1 | associated_with | fibroblast growth factor receptor 3,achondroplasia |
| R2 | T2 | T3 | associated_with | FGFR3,dwarfism |
| R3 | T4 | T5 | associated_with | fibroblast growth factor receptor 3,genetic disorder |
| R4 | T6 | T7 | associated_with | FGFR3,genetic disorder |
| R5 | T8 | T9 | associated_with | fibroblast growth factor receptor 3,dwarfism |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 132-140 | HP_0003510 | denotes | dwarfism |
| T2 | 559-569 | HP_0001548 | denotes | overgrowth |
| T3 | 952-960 | HP_0002808 | denotes | kyphosis |