Disease name
|
Progressive myoclonus epilepsy
Progressive myoclonus epilepsy
|
|
Marker gene
|
Gene symbol
|
Chromosome location
|
Protein name
|
CSTB
|
21q22.3 |
Cystatin-B |
EPM2A
|
6q24.3 |
Laforin |
NHLRC1
|
6p22.3 |
E3 ubiquitin-protein ligase NHLRC1 |
PRICKLE1
|
12q12 |
Prickle-like protein 1 |
SCARB2
|
4q21.1 |
Lysosome membrane protein 2 |
SERPINI1
|
3q26.1 |
Neuroserpin |
|
|
Summary
|
This term does not characterize a disease |
|