Difference between revisions of "Disease list"
From Bioinformatikpedia
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Revision as of 15:40, 17 April 2012
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 | |
| 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 | |
| Metachromatic leukodystrophy | 250100 | ARSA | Arylsulfatase A | P15289 | |
| Hemochromatosis | 235200 | HFE | Hereditary hemochromatosis protein | Q30201 |
