EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   1.1.1.135 | 3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency |
12696021 |
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. |
causal interaction
unassigned |
4
0 |
| 1.1.1.135 | 3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency |
17236142 |
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. |
causal interaction
unassigned |
4
0 |
| 1.1.1.135 | 3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency |
17317257 |
HSD17B10 replaces HADH2 as the approved designation for the gene mutated in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency. |
causal interaction
therapeutic application
unassigned |
2
1
0 |
| 1.1.1.135 | Mental Retardation, X-Linked |
17236142 |
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. |
causal interaction
unassigned |
4
0 |
| 1.1.1.135 | Neurodegenerative Diseases |
17236142 |
The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior. |
causal interaction
unassigned |
4
0 |
