EDK
Editome Disease Knowledgebase
Amyotrophic Lateral Sclerosis
| Disease name | Amyotrophic Lateral Sclerosis |
|---|---|
| Classfication | Nervous system disease |
| Related Enzyme(s) | |
| EFO | EFO:0000253 |
| DOID | 332 |
| OMIM | |
| NCI | |
| Definition | Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease, is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing. |
| Gene symbol | Species | Enzyme | Editing site(s) | Editing Type | PMID | RADAR | REDIportal | Description |
|---|---|---|---|---|---|---|---|---|
| GRIA2 | Human;Rat;Mouse | ADAR2 | 1 | A-to-I | RNA editing levels at the GluA2 Q/R site is an association with some nervous system diseases and glioma. | |||
| SLC1A2 | Human | ADAR1;ADAR2 | 1 | A-to-I | There is significant association between RNA editing in EAAT2 and ALS, which appears to involve alternative polyadenylation in intron 7. This would be expected to result in premature termination of transcription and reduced levels of EAAT2 glutamate transporter, both of which have been observed in ALS. |
| Enzyme | Full Name | Location | Ensembl | Targets | Related Diseases | Aliases |
|---|---|---|---|---|---|---|
| ADAR2 | Adenosine deaminase, RNA specific B1 | Chr21:45074578..45226563 |
|