EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   2.3.1.296 | Blindness |
29400301 |
A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5. |
causal interaction
unassigned |
1
0 |
| 2.3.1.296 | Dermatitis, Atopic |
31864761 |
Homozygous variant p.Ser427Pro in PNPLA1 is a preventive factor from atopic dermatitis. |
causal interaction
unassigned |
2
0 |
| 2.3.1.296 | Dermatitis, Exfoliative |
32851342 |
Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient. |
causal interaction
unassigned |
1
0 |
| 2.3.1.296 | Ichthyosiform Erythroderma, Congenital |
32851342 |
Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient. |
causal interaction
unassigned |
1
0 |
| 2.3.1.296 | Ichthyosis |
22246504 |
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. |
causal interaction
unassigned |
3
0 |
| 2.3.1.296 | Ichthyosis |
24344921 |
Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis. |
causal interaction
unassigned |
3
0 |
| 2.3.1.296 | Ichthyosis |
25803941 |
[Spontaneous models of human diseases in dogs: ichthyoses as an example]. |
causal interaction
unassigned |
3
0 |
| 2.3.1.296 | Ichthyosis |
26691440 |
A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families. |
causal interaction
unassigned |
2
0 |
| 2.3.1.296 | Ichthyosis |
26778108 |
Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family. |
causal interaction
unassigned |
4
0 |
| 2.3.1.296 | Ichthyosis |
27237723 |
Autosomal recessive congenital ichthyosis due to PNPLA1 mutation in a golden retriever-poodle cross-bred dog and the effect of topical therapy. |
causal interaction
therapeutic application
unassigned |
2
1
0 |
