EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   2.7.7.79 | Brain Diseases |
33682303 |
Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population. |
causal interaction
unassigned |
3
0 |
| 2.7.7.79 | Cerebellar Ataxia |
27307223 |
A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay. |
causal interaction
unassigned |
2
0 |
| 2.7.7.79 | Cerebellar Ataxia |
31168944 |
Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. |
causal interaction
diagnostic usage
unassigned |
2
3
0 |
| 2.7.7.79 | Cerebellar Diseases |
31168944 |
Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. |
causal interaction
diagnostic usage
unassigned |
2
3
0 |
| 2.7.7.79 | Cerebellar Diseases |
33682303 |
Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population. |
causal interaction
unassigned |
3
0 |
| 2.7.7.79 | Dysarthria |
27307223 |
A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay. |
causal interaction
unassigned |
2
0 |
