Difference between revisions of "Disease list 2011"
From Bioinformatikpedia
m |
m |
||
| Line 14: | Line 14: | ||
| P00439 |
| P00439 |
||
|- |
|- |
||
| − | | Tay Sachs |
+ | | Tay Sachs |
| − | | |
+ | | 272800 |
| HEXA |
| HEXA |
||
| − | | Hexosaminidase |
+ | | Hexosaminidase A |
| − | | |
+ | | P06865 |
|- |
|- |
||
| Maple Syrup Disease |
| Maple Syrup Disease |
||
Revision as of 13:36, 15 April 2011
Here is the list of diseases we will use in the practical. Sign up for one disease in Doodle (link will be posted shortly).
| Disease name | OMIM ID | Gene name | Protein name | Uniprot ID |
|---|---|---|---|---|
| Phenylkentonuria | 261600 | PAH | Phenylalanine-4-hydroxylase | P00439 |
| Tay Sachs | 272800 | HEXA | Hexosaminidase A | P06865 |
| Maple Syrup Disease | 248600 | BCKDHA | 2-oxoisovalerate dehydrogenase subunit alpha | P12694 |
| Canavans Disease | 271900 | ASPA | Aspartoacylase | P45381 |
| Gaucher Disease | 606463 | GBA | Glycosylceramidase | P04062 |
