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 | 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 |