Difference between revisions of "Disease list 2011"
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Revision as of 15:05, 21 June 2011
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 |