Difference between revisions of "Disease list 2011"
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| Diana, Verena |
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| 248600 |
| 248600 |
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| BCKDHA |
| BCKDHA |
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Latest revision as of 14:31, 20 February 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 | Erik, Markus |
| Tay Sachs | 272800 | HEXA | Hexosaminidase A | P06865 | Diana, Verena |
| Maple syrup urine 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 |
