Disease list 2011
From Bioinformatikpedia
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 / Sandhoff disease | 268800 | HEXA | Hexosaminidase | P07686 |
| Maple Syrup Disease | 248600 | BCKDHA | 2-oxoisovalerate dehydrogenase subunit alpha | P12694 |
| Canavans Disease | 271900 | ASPA | Aspartoacylase | P45381 |
| Gaucher Disease | 606463 | GBA | Glycosylceramidase | P04062 |
