Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Information
- Disease name
- Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
- Disease ID
- Description
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| SMAD4 | 18 | 51,030,209 | 51,085,042 | 4 |
| NF1 | 17 | 31,094,977 | 31,377,675 | 2 |
| SDHA | 5 | 218,320 | 257,082 | 2 |
| MITF | 3 | 69,739,464 | 69,968,332 | 2 |
| TERT | 5 | 1,253,167 | 1,295,068 | 2 |
| WRN | 8 | 31,033,810 | 31,176,138 | 2 |
| RB1 | 13 | 48,303,751 | 48,481,890 | 2 |
| APC | 5 | 112,737,885 | 112,846,239 | 2 |
| XPA | 9 | 97,674,909 | 97,697,340 | 2 |
| PRKDC | 8 | 47,773,111 | 47,960,136 | 2 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- MedGen concept unique identifier (MedGen Concept name)
- C1832942
- MedGen unique identifier (MedGen Concept name)
- 331400