Disease list 2011

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Revision as of 14:05, 21 June 2011 by Demel (talk | contribs)

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