EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
1.2.1.41 | Agenesis of Corpus Callosum |
23963297 |
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. |
causal interaction diagnostic usage unassigned |
4 1 0 |
1.2.1.41 | Agenesis of Corpus Callosum |
30244529 |
Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis. |
causal interaction unassigned |
1 0 |
1.2.1.41 | Alopecia |
28409271 |
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. |
causal interaction unassigned |
4 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 | 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 | Cataract |
32017139 |
?1 -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder. |
causal interaction unassigned |
3 0 |
1.2.1.41 | Cerebellar Ataxia |
29915212 |
Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment. |
causal interaction unassigned |
3 0 |
1.2.1.41 | Congenital Disorders of Glycosylation |
28409271 |
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. |
causal interaction unassigned |
4 0 |
1.2.1.41 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
28409271 |
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. |
causal interaction unassigned |
4 0 |
1.2.1.41 | Cryptorchidism |
24767728 |
Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature. |
causal interaction diagnostic usage therapeutic application unassigned |
4 3 1 0 |