PubMed:10215410
Annnotations
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10215410-0#26#35#geners80053154 | 26-35 | geners80053154 | denotes | Ile538Val |
| 10215410-0#82#99#diseaseC0410529 | 82-99 | diseaseC0410529 | denotes | hypochondroplasia |
| 10215410-12#41#50#geners80053154 | 1768-1777 | geners80053154 | denotes | Ile538Val |
| 10215410-12#160#173#diseaseC0013336 | 1887-1900 | diseaseC0013336 | denotes | short stature |
| 26#35#geners8005315482#99#diseaseC0410529 | 10215410-0#26#35#geners80053154 | 10215410-0#82#99#diseaseC0410529 | associated_with | Ile538Val,hypochondroplasia |
| 41#50#geners80053154160#173#diseaseC0013336 | 10215410-12#41#50#geners80053154 | 10215410-12#160#173#diseaseC0013336 | associated_with | Ile538Val,short stature |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10215410-0#43#78#gene2261 | 43-78 | gene2261 | denotes | fibroblast growth factor receptor 3 |
| 10215410-0#82#99#diseaseC0410529 | 82-99 | diseaseC0410529 | denotes | hypochondroplasia |
| 43#78#gene226182#99#diseaseC0410529 | 10215410-0#43#78#gene2261 | 10215410-0#82#99#diseaseC0410529 | associated_with | fibroblast growth factor receptor 3,hypochondroplasia |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 43-78 | gene:2261 | denotes | fibroblast growth factor receptor 3 |
| T1 | 82-99 | disease:C0410529 | denotes | hypochondroplasia |
| R1 | T0 | T1 | associated_with | fibroblast growth factor receptor 3,hypochondroplasia |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 178-197 | HP_0002652 | denotes | skeletal dysplasias |
| T2 | 216-234 | HP_0000006 | denotes | autosomal dominant |
| T3 | 216-246 | HP_0000006 | denotes | autosomal dominant inheritance |
| T4 | 251-281 | HP_0003498 | denotes | disproportionate short stature |
| T5 | 268-281 | HP_0004322 | denotes | short stature |
| T6 | 310-324 | HP_0001510 | denotes | growth failure |
| T7 | 833-863 | HP_0003498 | denotes | disproportionate short stature |
| T8 | 850-863 | HP_0004322 | denotes | short stature |
| T9 | 893-913 | HP_0003026 | denotes | shortened long bones |
| T10 | 1887-1900 | HP_0004322 | denotes | short stature |
| T11 | 1935-1948 | HP_0004322 | denotes | short stature |