Difference between revisions of "Disease list 2011"

From Bioinformatikpedia
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| Glycosylceramidase
 
| Glycosylceramidase
 
| P04062
  
| P04062
  +
|-
  +
| Fabry Disease
  +
| 301500
  +
| GLA
  +
| Alpha-galactosidase A
  +
| P06280
  +
|-
  +
| Metachromatic leukodystrophy
  +
| 250100
  +
| ARSA
  +
| Arylsulfatase A
  +
| P15289
  +
|-
  +
| Hemochromatosis
  +
| 235200
  +
| HFE
  +
| Hereditary hemochromatosis protein
  +
| Q30201
 
|}
  
|}

Revision as of 13:45, 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 posted shortly).

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
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