Difference between revisions of "Disease list 2011"
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m (moved Disease list to Disease list 2011: obfuscate) |
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! Students |
! Students |
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| + | | [[Phenylketonuria]] |
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| − | | Phenylkentonuria |
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| 261600 |
| 261600 |
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| PAH |
| PAH |
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| Line 23: | Line 23: | ||
| Diana, Verena |
| Diana, Verena |
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| − | | Maple |
+ | | [[Maple syrup urine disease]] |
| 248600 |
| 248600 |
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| BCKDHA |
| BCKDHA |
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| Line 37: | Line 37: | ||
| Felix, Irina |
| Felix, Irina |
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| − | | Gaucher Disease |
+ | | [[Gaucher Disease]] |
| 606463 |
| 606463 |
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| GBA |
| GBA |
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| Line 44: | Line 44: | ||
| Tatjana, Sabine |
| Tatjana, Sabine |
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| − | | Fabry Disease |
+ | | [[Fabry Disease]] |
| 301500 |
| 301500 |
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| GLA |
| GLA |
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| Line 51: | Line 51: | ||
| Benjamin, Fabian |
| Benjamin, Fabian |
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| − | | Metachromatic leukodystrophy |
+ | | [[Metachromatic leukodystrophy]] |
| 250100 |
| 250100 |
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| ARSA |
| ARSA |
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| Benedikt, Rebecca |
| Benedikt, Rebecca |
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| − | | Hemochromatosis |
+ | | [[Hemochromatosis]] |
| 235200 |
| 235200 |
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| HFE |
| HFE |
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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 |
