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Search summary (UniProt accession: Q9H078)
Number of enzymes:
1
Number of disease:
1
Number of reactomes:
0
Number of reactions:
0
Search results (UniProt accession: Q9H078)
DiseaseID
Gene
UniProt
EC numbers
Reactomes
Expanded Reactomes
Reactome roots
Reactions
MONDO:0014561
MONDO:0014561
Disease Name:
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
OMIM id:
OMIM:616271
Orphanet id:
Orphanet:445038
All associated enzymes in DAR:
CLPB
CLPB
Q9H078
3.6.1.-