PubMed:10196363
Annnotations
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10196363-5#3#8#geners72554634 | 791-796 | geners72554634 | denotes | I400M |
| 10196363-5#103#109#diseaseC1845028 | 891-897 | diseaseC1845028 | denotes | XLSA/A |
| 3#8#geners72554634103#109#diseaseC1845028 | 10196363-5#3#8#geners72554634 | 10196363-5#103#109#diseaseC1845028 | associated_with | I400M,XLSA/A |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 10196363-0#60#64#gene22 | 60-64 | gene22 | denotes | ABC7 |
| 10196363-0#69#109#diseaseC1845028 | 69-109 | diseaseC1845028 | denotes | X-linked sideroblastic anemia and ataxia |
| 10196363-0#111#117#diseaseC1845028 | 111-117 | diseaseC1845028 | denotes | XLSA/A |
| 10196363-9#25#29#gene22 | 1318-1322 | gene22 | denotes | ABC7 |
| 10196363-9#80#101#diseaseC0751651 | 1373-1394 | diseaseC0751651 | denotes | mitochondrial disease |
| 60#64#gene2269#109#diseaseC1845028 | 10196363-0#60#64#gene22 | 10196363-0#69#109#diseaseC1845028 | associated_with | ABC7,X-linked sideroblastic anemia and ataxia |
| 60#64#gene22111#117#diseaseC1845028 | 10196363-0#60#64#gene22 | 10196363-0#111#117#diseaseC1845028 | associated_with | ABC7,XLSA/A |
| 25#29#gene2280#101#diseaseC0751651 | 10196363-9#25#29#gene22 | 10196363-9#80#101#diseaseC0751651 | associated_with | ABC7,mitochondrial disease |
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 1318-1322 | gene:22 | denotes | ABC7 |
| T1 | 1345-1351 | disease:C1845028 | denotes | XLSA/A |
| T2 | 1318-1322 | gene:22 | denotes | ABC7 |
| T3 | 1361-1367 | disease:C1845028 | denotes | XLSA/A |
| T4 | 1318-1322 | gene:22 | denotes | ABC7 |
| T5 | 1373-1394 | disease:C0751651 | denotes | mitochondrial disease |
| R1 | T0 | T1 | associated_with | ABC7,XLSA/A |
| R2 | T2 | T3 | associated_with | ABC7,XLSA/A |
| R3 | T4 | T5 | associated_with | ABC7,mitochondrial disease |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 120-128 | HP_0001417 | denotes | X-linked |
| T2 | 129-149 | HP_0001924 | denotes | sideroblastic anemia |
| T3 | 143-149 | HP_0001903 | denotes | anemia |
| T4 | 154-160 | HP_0001251 | denotes | ataxia |
| T5 | 256-285 | HP_0002073 | denotes | progressive cerebellar ataxia |
| T6 | 268-285 | HP_0001251 | denotes | cerebellar ataxia |
| T7 | 279-285 | HP_0001251 | denotes | ataxia |
| T8 | 295-301 | HP_0001903 | denotes | anemia |
| T9 | 574-587 | HP_0001427 | denotes | mitochondrial |
| T10 | 610-638 | HP_0011031 | denotes | involved in iron homeostasis |
| T11 | 1373-1386 | HP_0001427 | denotes | mitochondrial |