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Results 1 - 10 of 65 > >>
EC Number Disease PubMed ID Title of Publication Category Confidence Level
Show all pathways known for 1.2.1.41Display the word mapDisplay the reaction diagram Show all sequences 1.2.1.41Agenesis of Corpus Callosum 23963297 Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. causal interaction
diagnostic usage
unassigned
4
1
0
Show all pathways known for 1.2.1.41Display the word mapDisplay the reaction diagram Show all sequences 1.2.1.41Agenesis 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
Show all pathways known for 1.2.1.41Display the word mapDisplay the reaction diagram Show all sequences 1.2.1.41Alopecia 28409271 Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. causal interaction
unassigned
4
0
Show all pathways known for 1.2.1.41Display the word mapDisplay the reaction diagram Show all sequences 1.2.1.41Alzheimer 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
Show all pathways known for 1.2.1.41Display the word mapDisplay the reaction diagram Show all sequences 1.2.1.41Cataract 18478038 A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. causal interaction
unassigned
1
0
Show all pathways known for 1.2.1.41Display the word mapDisplay the reaction diagram Show all sequences 1.2.1.41Cataract 32017139 ?1 -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder. causal interaction
unassigned
3
0
Show all pathways known for 1.2.1.41Display the word mapDisplay the reaction diagram Show all sequences 1.2.1.41Cerebellar Ataxia 29915212 Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment. causal interaction
unassigned
3
0
Show all pathways known for 1.2.1.41Display the word mapDisplay the reaction diagram Show all sequences 1.2.1.41Congenital Disorders of Glycosylation 28409271 Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. causal interaction
unassigned
4
0
Show all pathways known for 1.2.1.41Display the word mapDisplay the reaction diagram Show all sequences 1.2.1.41Congenital, 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
Show all pathways known for 1.2.1.41Display the word mapDisplay the reaction diagram Show all sequences 1.2.1.41Cryptorchidism 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
Results 1 - 10 of 65 > >>