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Search summary (UniProt accession: Q8N8W4)
Number of enzymes:
1
Number of disease:
1
Number of reactomes:
0
Number of reactions:
0
Search results (UniProt accession: Q8N8W4)
DiseaseID
Gene
UniProt
EC numbers
Reactomes
Expanded Reactomes
Reactome roots
Reactions
MONDO:0014011
MONDO:0014011
Disease Name:
autosomal recessive congenital ichthyosis 10
OMIM id:
OMIM:615024
Orphanet id:
Orphanet:79394
All associated enzymes in DAR:
PNPLA1
PNPLA1
Q8N8W4
2.3.1.296