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 sent directly by Doodle).
| Disease name | OMIM ID | Gene name | Protein name | Uniprot ID | Students |
|---|---|---|---|---|---|
| Phenylkentonuria | 261600 | PAH | Phenylalanine-4-hydroxylase | P00439 | Erik, Markus |
| Tay Sachs | 272800 | HEXA | Hexosaminidase A | P06865 | Diana, Verena |
| Maple Syrup Disease | 248600 | BCKDHA | 2-oxoisovalerate dehydrogenase subunit alpha | P12694 | Carina, Eva |
| Canavans Disease | 271900 | ASPA | Aspartoacylase | P45381 | Felix, Irina |
| Gaucher Disease | 606463 | GBA | Glycosylceramidase | P04062 | Tatjana, Sabine |
| Fabry Disease | 301500 | GLA | Alpha-galactosidase A | P06280 | Benjamin, Fabian |
| Metachromatic leukodystrophy | 250100 | ARSA | Arylsulfatase A | P15289 | Benedikt, Rebecca |
| Hemochromatosis | 235200 | HFE | Hereditary hemochromatosis protein | Q30201 | Cedric, Robert |
