Disease code | Disease name | Gene | Motif | Location | Normal repeats | Pathogenic repeats |
---|---|---|---|---|---|---|
FRAXA | Fragile X syndrome | FMR1 | CGG | 5'-UTR | 6 - 53 | 230+ |
FXTAS | Fragile Xassociated tremor/ataxia syndrome | FMR1 | CGG | 5'-UTR | 6 - 53 | 55-200 |
FRAXE | Fragile XE mental retardation | AFF2 | GCC | 5'-UTR | 6 - 35 | 200+ |
FRDA | Friedreich's ataxia | FXN | GAA | Intr. | 7 - 34 | 100+ |
DM1 | Myotonic dystrophy type | DMPK | CTG | 3'-UTR | 5 - 37 | 50+ |
DM2 | Myotonic dystrophy type 2 | ZNF9 | CCTG | Intr. | 27- | 75+ |
SCA10 | Spinocerebellar ataxia Type 10 | ATXN10 | ATTCT | Intr. | 10-29 | 280+ |
SCA12 | Spinocerebellar ataxia Type 12 | PPP2R2B | CAG | 5'-UTR | 7 - 28 | 66 - 78 |
EPM1 | Progressive myoclonus epilipsy | CSTB | (C)4G(C)4GCG | Prom. | 2-3 | 60+ |
HDL-2 | Huntington diesease-like | JPH3 | CAG/CTG | 3'-UTR | 66- | 66+ |
SCA8 | Spinocerebellar ataxia Type 8 | ATXN8OS | CTG | 3'-UTR | 16 - 37 | 110 - 250 |