PubMed:16440883 / 0-153
Annnotations
sentences
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TextSentencer_T1 | 0-98 | Sentence | denotes | Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene. |
| T1 | 0-98 | Sentence | denotes | Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene. |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 87-92 | gene:2263 | denotes | FGFR2 |
| T1 | 0-14 | disease:C0001193 | denotes | Apert syndrome |
| T2 | 87-92 | gene:2263 | denotes | FGFR2 |
| T3 | 20-40 | disease:C0345354 | denotes | preaxial polydactyly |
| R1 | T0 | T1 | associated_with | FGFR2,Apert syndrome |
| R2 | T2 | T3 | associated_with | FGFR2,preaxial polydactyly |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 16440883-0#70#79#geners79184941 | 70-79 | geners79184941 | denotes | Ser252Trp |
| 16440883-0#0#14#diseaseC0001193 | 0-14 | diseaseC0001193 | denotes | Apert syndrome |
| 70#79#geners791849410#14#diseaseC0001193 | 16440883-0#70#79#geners79184941 | 16440883-0#0#14#diseaseC0001193 | associated_with | Ser252Trp,Apert syndrome |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 16440883-0#87#92#gene2263 | 87-92 | gene2263 | denotes | FGFR2 |
| 16440883-0#20#40#diseaseC0345354 | 20-40 | diseaseC0345354 | denotes | preaxial polydactyly |
| 87#92#gene226320#40#diseaseC0345354 | 16440883-0#87#92#gene2263 | 16440883-0#20#40#diseaseC0345354 | associated_with | FGFR2,preaxial polydactyly |
PubCasesHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 20-40 | HP:0100258 | denotes | preaxial polydactyly |
PubCasesORDO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| TI1 | 0-14 | ORDO:87 | denotes | Apert syndrome |
| AB1 | 103-117 | ORDO:87 | denotes | Apert syndrome |