PubMed:16446107
Annnotations
DisGeNET
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T0 | 350-355 | gene:212 | denotes | ALAS2 |
| T1 | 395-408 | disease:C0282193 | denotes | iron overload |
| T2 | 435-440 | gene:212 | denotes | ALAS2 |
| T3 | 525-545 | disease:C0002896 | denotes | sideroblastic anemia |
| T4 | 435-440 | gene:212 | denotes | ALAS2 |
| T5 | 480-503 | disease:C0392514 | denotes | primary hemochromatosis |
| T6 | 435-440 | gene:212 | denotes | ALAS2 |
| T7 | 558-571 | disease:C0282193 | denotes | iron overload |
| R1 | T0 | T1 | associated_with | ALAS2,iron overload |
| R2 | T2 | T3 | associated_with | ALAS2,sideroblastic anemia |
| R3 | T4 | T5 | associated_with | ALAS2,primary hemochromatosis |
| R4 | T6 | T7 | associated_with | ALAS2,iron overload |
PubmedHPO
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 242-262 | HP_0001924 | denotes | sideroblastic anemia |
| T2 | 256-262 | HP_0001903 | denotes | anemia |
| T3 | 525-545 | HP_0001924 | denotes | sideroblastic anemia |
| T4 | 539-545 | HP_0001903 | denotes | anemia |
| T5 | 692-698 | HP_0001903 | denotes | anemia |
| T6 | 824-844 | HP_0001924 | denotes | sideroblastic anemia |
| T7 | 838-844 | HP_0001903 | denotes | anemia |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 16446107-0#26#31#geners201062903 | 26-31 | geners201062903 | denotes | P520L |
| 16446107-0#36#48#geners201062903 | 36-48 | geners201062903 | denotes | 1559 C --> T |
| 16446107-0#119#139#diseaseC0002896 | 119-139 | diseaseC0002896 | denotes | sideroblastic anemia |
| 16446107-0#151#164#diseaseC0282193 | 151-164 | diseaseC0282193 | denotes | iron overload |
| 16446107-0#91#104#diseaseC0282193 | 91-104 | diseaseC0282193 | denotes | iron overload |
| 16446107-0#119#139#diseaseC0002896 | 119-139 | diseaseC0002896 | denotes | sideroblastic anemia |
| 16446107-0#151#164#diseaseC0282193 | 151-164 | diseaseC0282193 | denotes | iron overload |
| 16446107-5#61#66#geners1800562 | 717-722 | geners1800562 | denotes | C282Y |
| 16446107-5#15#28#diseaseC0282193 | 671-684 | diseaseC0282193 | denotes | iron overload |
| 16446107-5#36#42#diseaseC0002871 | 692-698 | diseaseC0002871 | denotes | anemia |
| 26#31#geners201062903119#139#diseaseC0002896 | 16446107-0#26#31#geners201062903 | 16446107-0#119#139#diseaseC0002896 | associated_with | P520L,sideroblastic anemia |
| 26#31#geners201062903151#164#diseaseC0282193 | 16446107-0#26#31#geners201062903 | 16446107-0#151#164#diseaseC0282193 | associated_with | P520L,iron overload |
| 26#31#geners20106290391#104#diseaseC0282193 | 16446107-0#26#31#geners201062903 | 16446107-0#91#104#diseaseC0282193 | associated_with | P520L,iron overload |
| 26#31#geners201062903119#139#diseaseC0002896 | 16446107-0#26#31#geners201062903 | 16446107-0#119#139#diseaseC0002896 | associated_with | P520L,sideroblastic anemia |
| 26#31#geners201062903151#164#diseaseC0282193 | 16446107-0#26#31#geners201062903 | 16446107-0#151#164#diseaseC0282193 | associated_with | P520L,iron overload |
| 36#48#geners201062903119#139#diseaseC0002896 | 16446107-0#36#48#geners201062903 | 16446107-0#119#139#diseaseC0002896 | associated_with | 1559 C --> T,sideroblastic anemia |
| 36#48#geners201062903151#164#diseaseC0282193 | 16446107-0#36#48#geners201062903 | 16446107-0#151#164#diseaseC0282193 | associated_with | 1559 C --> T,iron overload |
| 36#48#geners20106290391#104#diseaseC0282193 | 16446107-0#36#48#geners201062903 | 16446107-0#91#104#diseaseC0282193 | associated_with | 1559 C --> T,iron overload |
| 36#48#geners201062903119#139#diseaseC0002896 | 16446107-0#36#48#geners201062903 | 16446107-0#119#139#diseaseC0002896 | associated_with | 1559 C --> T,sideroblastic anemia |
| 36#48#geners201062903151#164#diseaseC0282193 | 16446107-0#36#48#geners201062903 | 16446107-0#151#164#diseaseC0282193 | associated_with | 1559 C --> T,iron overload |
| 61#66#geners180056215#28#diseaseC0282193 | 16446107-5#61#66#geners1800562 | 16446107-5#15#28#diseaseC0282193 | associated_with | C282Y,iron overload |
| 61#66#geners180056236#42#diseaseC0002871 | 16446107-5#61#66#geners1800562 | 16446107-5#36#42#diseaseC0002871 | associated_with | C282Y,anemia |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 16446107-0#20#25#gene212 | 20-25 | gene212 | denotes | ALAS2 |
| 16446107-0#91#104#diseaseC0282193 | 91-104 | diseaseC0282193 | denotes | iron overload |
| 16446107-0#119#139#diseaseC0002896 | 119-139 | diseaseC0002896 | denotes | sideroblastic anemia |
| 16446107-0#151#164#diseaseC0282193 | 151-164 | diseaseC0282193 | denotes | iron overload |
| 16446107-10#6#11#gene212 | 1458-1463 | gene212 | denotes | ALAS2 |
| 16446107-10#83#106#diseaseC0392514 | 1535-1558 | diseaseC0392514 | denotes | primary hemochromatosis |
| 16446107-5#57#60#gene3077 | 713-716 | gene3077 | denotes | HFE |
| 16446107-5#112#115#gene3077 | 768-771 | gene3077 | denotes | HFE |
| 16446107-5#36#42#diseaseC0002871 | 692-698 | diseaseC0002871 | denotes | anemia |
| 16446107-9#206#209#gene3077 | 1400-1403 | gene3077 | denotes | HFE |
| 16446107-9#235#250#gene3077 | 1429-1444 | gene3077 | denotes | hemochromatosis |
| 16446107-9#160#173#diseaseC0282193 | 1354-1367 | diseaseC0282193 | denotes | iron overload |
| 20#25#gene21291#104#diseaseC0282193 | 16446107-0#20#25#gene212 | 16446107-0#91#104#diseaseC0282193 | associated_with | ALAS2,iron overload |
| 20#25#gene212119#139#diseaseC0002896 | 16446107-0#20#25#gene212 | 16446107-0#119#139#diseaseC0002896 | associated_with | ALAS2,sideroblastic anemia |
| 20#25#gene212151#164#diseaseC0282193 | 16446107-0#20#25#gene212 | 16446107-0#151#164#diseaseC0282193 | associated_with | ALAS2,iron overload |
| 6#11#gene21283#106#diseaseC0392514 | 16446107-10#6#11#gene212 | 16446107-10#83#106#diseaseC0392514 | associated_with | ALAS2,primary hemochromatosis |
| 57#60#gene307736#42#diseaseC0002871 | 16446107-5#57#60#gene3077 | 16446107-5#36#42#diseaseC0002871 | associated_with | HFE,anemia |
| 112#115#gene307736#42#diseaseC0002871 | 16446107-5#112#115#gene3077 | 16446107-5#36#42#diseaseC0002871 | associated_with | HFE,anemia |
| 206#209#gene3077160#173#diseaseC0282193 | 16446107-9#206#209#gene3077 | 16446107-9#160#173#diseaseC0282193 | associated_with | HFE,iron overload |
| 235#250#gene3077160#173#diseaseC0282193 | 16446107-9#235#250#gene3077 | 16446107-9#160#173#diseaseC0282193 | associated_with | hemochromatosis,iron overload |