| |
Affected Tissue/Organ |
Chromosome |
Gene Product |
Gene Symbol |
# of Mutation Entry |
Disease Name |
Curator |
|
Substantia nigra |
4 |
Synuclein, alpha |
SNCA |
4 |
Parkinson's disease |
Keio Univ. DMB. |
|
Substantia nigra |
6 |
parkin |
Parkin/ PARK2 |
8 |
parkinsonism, juvenile |
Keio Univ. DMB. |
|
Peripheral nerve |
1 |
myelin protein zero |
MPZ |
56 |
Charcot-Marie-Tooth disease type 1B |
Keio Univ. DMB. |
|
|
|
|
|
|
Dejerine-Sottas syndrome |
|
|
Peripheral nerve |
17 |
peripheral myelin protein 22 |
PMP22 |
14 |
Charcot-Marie-Tooth disease type 1A |
Keio Univ. DMB. |
|
|
|
|
|
|
Dejerine-Sottas syndrome |
|
|
Peripheral nerve |
X |
gap junction protein, beta-1, 32-kd |
GJB1 |
87 |
X-linked Charcot-Marie-Tooth disease type 1 |
Keio Univ. DMB. |
|
|
|
|
|
|
X-linked Charcot-Marie-Tooth disease type 2 |
|