EC Number   |
Disease |
PubMed ID |
Title of Publication  |
Category |
Confidence Level |
|---|
    1.2.1.41 | Cataract |
32017139 |
?1 -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder. |
causal interaction
unassigned |
3
0 |
| 1.2.1.41 | Cutis Laxa |
32017139 |
?1 -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder. |
causal interaction
unassigned |
3
0 |
| 1.2.1.41 | Joint Instability |
32017139 |
?1 -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder. |
causal interaction
unassigned |
3
0 |
| 1.2.1.41 | Neurocutaneous Syndromes |
32017139 |
?1 -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder. |
causal interaction
unassigned |
3
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 | Paraplegia |
26297558 |
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. |
unassigned |
0 |
| 1.2.1.41 | Neurocutaneous Syndromes |
26026163 |
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. |
causal interaction
unassigned |
4
0 |
| 1.2.1.41 | Spastic Paraplegia, Hereditary |
26026163 |
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. |
causal interaction
unassigned |
4
0 |
