EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    1.2.1.41 | Spastic Paraplegia, Hereditary |
29915212 |
Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment. |
causal interaction
unassigned |
3
0 |
| 1.2.1.41 | Spastic Paraplegia, Hereditary |
32798076 |
Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1. |
causal interaction
therapeutic application
unassigned |
4
3
0 |
| 1.2.1.41 | Spastic Paraplegia, Hereditary |
34093392 |
Novel Compound Missense and Intronic Splicing Mutation in ALDH18A1 Causes Autosomal Recessive Spastic Paraplegia. |
causal interaction
unassigned |
4
0 |
| 1.2.1.41 | transaldolase deficiency |
28409271 |
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. |
causal interaction
unassigned |
4
0 |
| 1.2.1.41 | Tremor |
32798076 |
Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1. |
causal interaction
therapeutic application
unassigned |
4
3
0 |
