Difference between revisions of "Disease list 2011"
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| − | Here is the list of diseases we will use in the practical. Sign up for one disease in Doodle (link will be |
+ | Here is the list of diseases we will use in the practical. Sign up for one disease in Doodle (link will be sent directly by Doodle). |
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Revision as of 13:58, 15 April 2011
Here is the list of diseases we will use in the practical. Sign up for one disease in Doodle (link will be sent directly by Doodle).
| Disease name | OMIM ID | Gene name | Protein name | Uniprot ID |
|---|---|---|---|---|
| Phenylkentonuria | 261600 | PAH | Phenylalanine-4-hydroxylase | P00439 |
| Tay Sachs | 272800 | HEXA | Hexosaminidase A | P06865 |
| Maple Syrup Disease | 248600 | BCKDHA | 2-oxoisovalerate dehydrogenase subunit alpha | P12694 |
| Canavans 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 |
