EC Number   |
Disease |
PubMed ID |
Title of Publication  |
Category |
Confidence Level |
|---|
   5.6.1.1 | Paralysis |
32486213 |
?he Nematicidal Potential of Bioactive Streptomyces Strains Isolated from Greek Rhizosphere Soils Tested on Arabidopsis Plants of Varying Susceptibility to Meloidogyne spp. |
therapeutic application
unassigned |
1
0 |
| 5.6.1.1 | Spastic Paraplegia, Hereditary |
18613979 |
A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform. |
causal interaction
therapeutic application
unassigned |
3
4
0 |
| 5.6.1.1 | Spastic Paraplegia, Hereditary |
17597328 |
A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP. |
causal interaction
unassigned |
2
0 |
| 5.6.1.1 | Cerebellar Ataxia |
30599301 |
A Japanese family with a novel nonsense mutation in the spastin gene associated with both cerebellar ataxia and cognitive impairment. |
causal interaction
unassigned |
4
0 |
| 5.6.1.1 | Epilepsy |
11723204 |
A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members. |
causal interaction
unassigned |
1
0 |
| 5.6.1.1 | Multiple Sclerosis |
11723204 |
A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members. |
causal interaction
unassigned |
1
0 |
| 5.6.1.1 | Paraparesis, Spastic |
11723204 |
A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members. |
causal interaction
unassigned |
1
0 |
| 5.6.1.1 | Intellectual Disability |
28373692 |
A missense mutation in Katnal1 underlies behavioural, neurological and ciliary anomalies. |
causal interaction
unassigned |
4
0 |
| 5.6.1.1 | Microcephaly |
28373692 |
A missense mutation in Katnal1 underlies behavioural, neurological and ciliary anomalies. |
causal interaction
unassigned |
4
0 |
| 5.6.1.1 | Spastic Paraplegia, Hereditary |
16476820 |
A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia. |
diagnostic usage
therapeutic application
unassigned |
1
1
0 |
