Difference between revisions of "Disease list 2011"

From Bioinformatikpedia
m (New page: 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 ! Protein name ! Uniprot ID |- | Ph...)
 
m
Line 4: Line 4:
 
! Disease name
  
! Disease name
 
! OMIM ID
  
! OMIM ID
  +
! Gene name
 
! Protein name
  
! Protein name
 
! Uniprot ID
  
! Uniprot ID
 
|-
  
|-
−
| Phenylkentonuria (PAH)
 +
| Phenylkentonuria
 
| 261600
  
| 261600
  +
| PAH
 
| Phenylalanine-4-hydroxylase
 
| Phenylalanine-4-hydroxylase
 
| P00439
 
| P00439
Line 14: Line 16:
 
| Tay Sachs / Sandhoff disease
  
| Tay Sachs / Sandhoff disease
 
| 268800
  
| 268800
  +
| HEXA
 
| Hexosaminidase
 
| Hexosaminidase
 
| P07686
  
| P07686
 
|-
  
|-
 
| Maple Syrup Disease
 
| Maple Syrup Disease
−
|
+
| 248600
  +
| BCKDHA
−
|
  
  +
| 2-oxoisovalerate dehydrogenase subunit alpha
−
|
  
  +
| P12694
  +
|-
  +
| Canavans Disease
  +
| 271900
  +
| ASPA
  +
| Aspartoacylase
  +
| P45381
  +
|-
  +
| Gaucher Disease
  +
| 606463
  +
| GBA
  +
| Glycosylceramidase
  +
| P04062
 
|}
  
|}

Revision as of 13:33, 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 / Sandhoff disease 268800 HEXA Hexosaminidase P07686
Maple Syrup Disease 248600 BCKDHA 2-oxoisovalerate dehydrogenase subunit alpha P12694
Canavans Disease 271900 ASPA Aspartoacylase P45381
Gaucher Disease 606463 GBA Glycosylceramidase P04062
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