PubMed:9950359
Annnotations
PubTator4TogoVar
| Id | Subject | Object | Predicate | Lexical cue | proteinmutation |
|---|---|---|---|---|---|
| 9950359_0 | 94-99 | ProteinMutation | denotes | P250R | rs4647924 |
| 9950359_1 | 213-238 | ProteinMutation | denotes | proline 250 into arginine | rs4647924 |
| 9950359_2 | 464-469 | ProteinMutation | denotes | P250R | rs4647924 |
| 9950359_3 | 766-771 | ProteinMutation | denotes | P250R | rs4647924 |
| 9950359_4 | 1109-1114 | ProteinMutation | denotes | P250R | rs4647924 |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 150-185 | gene:2261 | denotes | fibroblast growth factor receptor 3 |
| T1 | 275-291 | disease:C0010278 | denotes | craniosynostosis |
| T2 | 187-192 | gene:2261 | denotes | FGFR3 |
| T3 | 275-291 | disease:C0010278 | denotes | craniosynostosis |
| R1 | T0 | T1 | associated_with | fibroblast growth factor receptor 3,craniosynostosis |
| R2 | T2 | T3 | associated_with | FGFR3,craniosynostosis |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 9950359-0#94#99#geners4647924 | 94-99 | geners4647924 | denotes | P250R |
| 9950359-0#45#69#diseaseC1856266 | 45-69 | diseaseC1856266 | denotes | coronal craniosynostosis |
| 9950359-5#41#46#geners4647924 | 766-771 | geners4647924 | denotes | P250R |
| 9950359-5#63#76#diseaseC0221356 | 788-801 | diseaseC0221356 | denotes | brachycephaly |
| 94#99#geners464792445#69#diseaseC1856266 | 9950359-0#94#99#geners4647924 | 9950359-0#45#69#diseaseC1856266 | associated_with | P250R,coronal craniosynostosis |
| 41#46#geners464792463#76#diseaseC0221356 | 9950359-5#41#46#geners4647924 | 9950359-5#63#76#diseaseC0221356 | associated_with | P250R,brachycephaly |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 9950359-1#34#69#gene2261 | 150-185 | gene2261 | denotes | fibroblast growth factor receptor 3 |
| 9950359-1#71#76#gene2261 | 187-192 | gene2261 | denotes | FGFR3 |
| 9950359-1#151#175#diseaseC1856266 | 267-291 | diseaseC1856266 | denotes | coronal craniosynostosis |
| 34#69#gene2261151#175#diseaseC1856266 | 9950359-1#34#69#gene2261 | 9950359-1#151#175#diseaseC1856266 | associated_with | fibroblast growth factor receptor 3,coronal craniosynostosis |
| 71#76#gene2261151#175#diseaseC1856266 | 9950359-1#71#76#gene2261 | 9950359-1#151#175#diseaseC1856266 | associated_with | FGFR3,coronal craniosynostosis |