Disease list
From Bioinformatikpedia
Here is the list of diseases we will use in the practical. Students have signed up for one disease in Doodle (link was sent directly by Doodle).
| Disease name | OMIM ID | Gene name | Protein name | Uniprot ID | Students |
|---|---|---|---|---|---|
| Phenylketonuria | 261600 | PAH | Phenylalanine-4-hydroxylase | P00439 | Jonathan,Sebastian |
| Tay-Sachs Disease | 272800 | HEXA | Hexosaminidase A | P06865 | |
| Maple syrup urine disease | 248600 | BCKDHA | 2-oxoisovalerate dehydrogenase subunit alpha | P12694 | |
| Canavan Disease | 271900 | ASPA | Aspartoacylase | P45381 | |
| Gaucher Disease | 606463 | GBA | Glycosylceramidase | P04062 | |
| Fabry Disease | 301500 | GLA | Alpha-galactosidase A | P06280 | Julia |
| Metachromatic leukodystrophy | 250100 | ARSA | Arylsulfatase A | P15289 | |
| Hemochromatosis | 235200 | HFE | Hereditary hemochromatosis protein | Q30201 |
