Disease list

From Bioinformatikpedia
Revision as of 22:30, 28 April 2012 by Hollizeck (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 Jonathan,Sebastian
Tay-Sachs Disease 272800 HEXA Hexosaminidase A P06865
Maple syrup urine disease 248600 BCKDHA 2-oxoisovalerate dehydrogenase subunit alpha P12694
Canavan 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