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 |