EC Number   |
Disease |
PubMed ID  |
Title of Publication |
Category |
Confidence Level |
|---|
    1.2.1.41 | Infections |
14986171 |
Identification of ALDH4 as a p53-inducible gene and its protective role in cellular stresses. |
ongoing research
therapeutic application
unassigned |
3
1
0 |
| 1.2.1.41 | Hearing Loss |
17113045 |
Glutamate-related gene expression changes with age in the mouse auditory midbrain. |
causal interaction
unassigned |
2
0 |
| 1.2.1.41 | Cataract |
18478038 |
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. |
causal interaction
unassigned |
1
0 |
| 1.2.1.41 | Joint Dislocations |
18478038 |
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. |
causal interaction
unassigned |
1
0 |
| 1.2.1.41 | Neurocutaneous Syndromes |
18478038 |
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. |
causal interaction
unassigned |
1
0 |
| 1.2.1.41 | Metabolic Diseases |
20091669 |
Pyrroline-5-carboxylate synthase and proline biosynthesis: from osmotolerance to rare metabolic disease. |
ongoing research
unassigned |
1
0 |
| 1.2.1.41 | Alzheimer Disease |
20946940 |
Association of variants within APOE, SORL1, RUNX1, BACE1 and ALDH18A1 with dementia in Alzheimer's disease in subjects with Down syndrome. |
causal interaction
unassigned |
2
0 |
| 1.2.1.41 | Dementia |
20946940 |
Association of variants within APOE, SORL1, RUNX1, BACE1 and ALDH18A1 with dementia in Alzheimer's disease in subjects with Down syndrome. |
causal interaction
unassigned |
2
0 |
| 1.2.1.41 | Down Syndrome |
20946940 |
Association of variants within APOE, SORL1, RUNX1, BACE1 and ALDH18A1 with dementia in Alzheimer's disease in subjects with Down syndrome. |
causal interaction
unassigned |
2
0 |
| 1.2.1.41 | Cutis Laxa |
21739576 |
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding ?(1) -pyrroline-5-carboxylate synthase (P5CS). |
causal interaction
unassigned |
3
0 |
