Disease list 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 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