EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    4.2.1.152 | arachidonate 12-lipoxygenase deficiency |
20222929 |
Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations. |
causal interaction
unassigned |
4
0 |
| 4.2.1.152 | Blister |
20222929 |
Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations. |
causal interaction
unassigned |
4
0 |
| 4.2.1.152 | Dermatitis, Exfoliative |
16116617 |
Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. |
causal interaction
diagnostic usage
unassigned |
1
1
0 |
| 4.2.1.152 | Dermatitis, Exfoliative |
20222929 |
Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations. |
causal interaction
unassigned |
4
0 |
| 4.2.1.152 | Dermatitis, Exfoliative |
23278109 |
Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal. |
causal interaction
unassigned |
4
0 |
| 4.2.1.152 | Dermatitis, Exfoliative |
26370990 |
Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi's Granuloma: The Consequences of Skin Barrier Dysfunction. |
causal interaction
unassigned |
1
0 |
| 4.2.1.152 | Dermatitis, Exfoliative |
29935003 |
Identification and association of recurrent ALOXE3 mutation with non-bullous congenital ichthyosiform erythroderma in two ethnically distinct Pakistani families. |
causal interaction
unassigned |
2
0 |
| 4.2.1.152 | Dermatitis, Exfoliative |
32851342 |
Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient. |
causal interaction
unassigned |
1
0 |
| 4.2.1.152 | Eczema |
27868147 |
Congenital Ichthyosis and Recurrent Eczema Associated with a Novel ALOXE3 Mutation. |
causal interaction
unassigned |
4
0 |
| 4.2.1.152 | Epilepsies, Myoclonic |
33581311 |
The ALOXE3 gene variants from patients with Dravet syndrome decrease gene expression and enzyme activity. |
causal interaction
ongoing research
therapeutic application
unassigned |
1
4
2
0 |
