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Search summary (UniProt accession: Q6SJ93)
Number of enzymes:
1
Number of disease:
1
Number of reactomes:
0
Number of reactions:
0
Search results (UniProt accession: Q6SJ93)
DiseaseID
Gene
UniProt
EC numbers
Reactomes
Expanded Reactomes
Reactome roots
Reactions
MONDO:0014310
MONDO:0014310
Disease Name:
hereditary sclerosing poikiloderma with tendon and pulmonary involvement
OMIM id:
OMIM:615704
Orphanet id:
Orphanet:221043
All associated enzymes in DAR:
FAM111B
FAM111B
Q6SJ93
3.4.21.-