EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   1.14.14.177 | 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 |
| 1.14.14.177 | Dermatitis, Exfoliative |
32851342 |
Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient. |
causal interaction
unassigned |
1
0 |
| 1.14.14.177 | Hearing Loss |
31020658 |
A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene. |
causal interaction
therapeutic application
unassigned |
3
1
0 |
| 1.14.14.177 | Ichthyosiform Erythroderma, Congenital |
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 |
| 1.14.14.177 | Ichthyosiform Erythroderma, Congenital |
32851342 |
Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient. |
causal interaction
unassigned |
1
0 |
| 1.14.14.177 | Ichthyosis |
21668430 |
Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects. |
ongoing research
unassigned |
1
0 |
| 1.14.14.177 | Ichthyosis |
21928690 |
Updated molecular genetics and pathogenesis of ichthiyoses. |
causal interaction
unassigned |
2
0 |
| 1.14.14.177 | Ichthyosis |
24344921 |
Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis. |
causal interaction
unassigned |
3
0 |
| 1.14.14.177 | Ichthyosis |
26646773 |
Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby. |
causal interaction
unassigned |
2
0 |
| 1.14.14.177 | Ichthyosis |
27449533 |
Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations. |
causal interaction
unassigned |
4
0 |
