PubMed:10234517
Annnotations
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 77-96 | HP_0010301 | denotes | Neural tube defects |
| T2 | 790-802 | HP_0002414 | denotes | spina bifida |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 894-915 | gene:2348 | denotes | folate receptor alpha |
| T1 | 790-802 | disease:C0080178 | denotes | spina bifida |
| T2 | 917-925 | gene:2348 | denotes | FR-alpha |
| T3 | 790-802 | disease:C0080178 | denotes | spina bifida |
| T4 | 917-925 | gene:2348 | denotes | FR-alpha |
| T5 | 804-806 | disease:C0080178 | denotes | SB |
| T6 | 942-962 | gene:2350 | denotes | folate receptor beta |
| T7 | 790-802 | disease:C0080178 | denotes | spina bifida |
| T8 | 964-971 | gene:2350 | denotes | FR-beta |
| T9 | 790-802 | disease:C0080178 | denotes | spina bifida |
| T10 | 964-971 | gene:2350 | denotes | FR-beta |
| T11 | 804-806 | disease:C0080178 | denotes | SB |
| R1 | T0 | T1 | associated_with | folate receptor alpha,spina bifida |
| R2 | T2 | T3 | associated_with | FR-alpha,spina bifida |
| R3 | T4 | T5 | associated_with | FR-alpha,SB |
| R4 | T6 | T7 | associated_with | folate receptor beta,spina bifida |
| R5 | T8 | T9 | associated_with | FR-beta,spina bifida |
| R6 | T10 | T11 | associated_with | FR-beta,SB |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10234517-3#68#77#geners371399726 | 413-422 | geners371399726 | denotes | 677 C-->T |
| 10234517-3#86#96#geners397507444 | 431-441 | geners397507444 | denotes | 1298 A-->C |
| 10234517-3#58#61#diseaseC0027794 | 403-406 | diseaseC0027794 | denotes | NTD |
| 68#77#geners37139972658#61#diseaseC0027794 | 10234517-3#68#77#geners371399726 | 10234517-3#58#61#diseaseC0027794 | associated_with | 677 C-->T,NTD |
| 86#96#geners39750744458#61#diseaseC0027794 | 10234517-3#86#96#geners397507444 | 10234517-3#58#61#diseaseC0027794 | associated_with | 1298 A-->C,NTD |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10234517-3#114#149#gene4524 | 459-494 | gene4524 | denotes | methylenetetrahydrofolate reductase |
| 10234517-3#58#61#diseaseC0027794 | 403-406 | diseaseC0027794 | denotes | NTD |
| 10234517-5#150#158#gene2348 | 917-925 | gene2348 | denotes | FR-alpha |
| 10234517-5#197#204#gene2350 | 964-971 | gene2350 | denotes | FR-beta |
| 10234517-5#23#35#diseaseC0080178 | 790-802 | diseaseC0080178 | denotes | spina bifida |
| 114#149#gene452458#61#diseaseC0027794 | 10234517-3#114#149#gene4524 | 10234517-3#58#61#diseaseC0027794 | associated_with | methylenetetrahydrofolate reductase,NTD |
| 150#158#gene234823#35#diseaseC0080178 | 10234517-5#150#158#gene2348 | 10234517-5#23#35#diseaseC0080178 | associated_with | FR-alpha,spina bifida |
| 197#204#gene235023#35#diseaseC0080178 | 10234517-5#197#204#gene2350 | 10234517-5#23#35#diseaseC0080178 | associated_with | FR-beta,spina bifida |