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Search summary (UniProt accession: Q4J6C6)
Number of enzymes:
1
Number of disease:
2
Number of reactomes:
0
Number of reactions:
0
Search results (UniProt accession: Q4J6C6)
DiseaseID
Gene
UniProt
EC numbers
Reactomes
Expanded Reactomes
Reactome roots
Reactions
MONDO:0011669
MONDO:0011669
Disease Name:
hypotonia-cystinuria syndrome
OMIM id:
OMIM:606407
Orphanet id:
Orphanet:238523
All associated enzymes in DAR:
CAMKMT
PREPL
PREPL
Q4J6C6
3.4.21.-
MONDO:0044299
MONDO:0044299
Disease Name:
myasthenic syndrome, congenital, 22
OMIM id:
OMIM:616224
Orphanet id:
Orphanet:590
All associated enzymes in DAR:
PREPL
PREPL
Q4J6C6
3.4.21.-