EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    1.2.1.24 | 4-aminobutyrate-2-oxoglutarate transaminase deficiency |
10407778 |
4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency. |
causal interaction
ongoing research
unassigned |
4
1
0 |
| 1.2.1.24 | alcohol dehydrogenase deficiency |
18514581 |
Circadian distribution of generalized tonic-clonic seizures associated with murine succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. |
causal interaction
therapeutic application
unassigned |
4
4
0 |
| 1.2.1.24 | alcohol dehydrogenase deficiency |
21612881 |
A boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency. |
causal interaction
diagnostic usage
unassigned |
4
1
0 |
| 1.2.1.24 | alcohol dehydrogenase deficiency |
25431891 |
Mutation analysis and prenatal diagnosis in a Chinese family with succinic semialdehyde dehydrogenase and a systematic review of the literature of reported ALDH5A1 mutations. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 1.2.1.24 | alcohol dehydrogenase deficiency |
25558043 |
Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification. |
causal interaction
diagnostic usage
unassigned |
4
1
0 |
| 1.2.1.24 | alcohol dehydrogenase deficiency |
28664505 |
SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site. |
causal interaction
unassigned |
4
0 |
| 1.2.1.24 | alcohol dehydrogenase deficiency |
31117962 |
Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency. |
causal interaction
diagnostic usage
unassigned |
4
4
0 |
| 1.2.1.24 | alcohol dehydrogenase deficiency |
32055132 |
Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency. |
causal interaction
diagnostic usage
unassigned |
4
3
0 |
| 1.2.1.24 | alcohol dehydrogenase deficiency |
32887777 |
Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency. |
causal interaction
unassigned |
4
0 |
| 1.2.1.24 | Carcinoma, Intraductal, Noninfiltrating |
23236365 |
RNA-Seq of human breast ductal carcinoma in situ models reveals aldehyde dehydrogenase isoform 5A1 as a novel potential target. |
causal interaction
ongoing research
therapeutic application
unassigned |
4
2
4
0 |
