PubMed:10200056
Annnotations
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10200056-0#129#133#geners121908730 | 129-133 | geners121908730 | denotes | G74C |
| 10200056-0#102#127#diseaseC0494261 | 102-127 | diseaseC0494261 | denotes | combined immunodeficiency |
| 129#133#geners121908730102#127#diseaseC0494261 | 10200056-0#129#133#geners121908730 | 10200056-0#102#127#diseaseC0494261 | associated_with | G74C,combined immunodeficiency |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10200056-0#29#48#gene100 | 29-48 | gene100 | denotes | adenosine deaminase |
| 10200056-0#50#53#gene100 | 50-53 | gene100 | denotes | ADA |
| 10200056-0#102#127#diseaseC0494261 | 102-127 | diseaseC0494261 | denotes | combined immunodeficiency |
| 29#48#gene100102#127#diseaseC0494261 | 10200056-0#29#48#gene100 | 10200056-0#102#127#diseaseC0494261 | associated_with | adenosine deaminase,combined immunodeficiency |
| 50#53#gene100102#127#diseaseC0494261 | 10200056-0#50#53#gene100 | 10200056-0#102#127#diseaseC0494261 | associated_with | ADA,combined immunodeficiency |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 29-48 | gene:100 | denotes | adenosine deaminase |
| T1 | 102-127 | disease:C0494261 | denotes | combined immunodeficiency |
| T2 | 50-53 | gene:100 | denotes | ADA |
| T3 | 102-127 | disease:C0494261 | denotes | combined immunodeficiency |
| R1 | T0 | T1 | associated_with | adenosine deaminase,combined immunodeficiency |
| R2 | T2 | T3 | associated_with | ADA,combined immunodeficiency |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 235-251 | HP_0002721 | denotes | immunodeficiency |
| T2 | 352-384 | HP_0004430 | denotes | severe combined immunodeficiency |
| T3 | 359-384 | HP_0005387 | denotes | combined immunodeficiency |
| T4 | 368-384 | HP_0002721 | denotes | immunodeficiency |