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Search summary (UniProt accession: Q9Y2H9)
Number of enzymes:
1
Number of disease:
1
Number of reactomes:
0
Number of reactions:
0
Search results (UniProt accession: Q9Y2H9)
DiseaseID
Gene
UniProt
EC numbers
Reactomes
Expanded Reactomes
Reactome roots
Reactions
MONDO:0032648
MONDO:0032648
Disease Name:
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
OMIM id:
OMIM:618273
All associated enzymes in DAR:
MAST1
MAST1
Q9Y2H9
2.7.11.1