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Search summary (Disease ID: MONDO:0013157)
Number of enzymes:
1
Number of disease:
1
Number of reactomes:
0
Number of reactions:
0
Search results (Disease ID: MONDO:0013157)
MONDO:0013157
Disease Name:
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
OMIM id:
OMIM:613153
Orphanet id:
Orphanet:899
All associated enzymes in DAR:
FKRP
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DiseaseID
Gene
UniProt
EC numbers
Reactomes
Expanded Reactomes
Reactome roots
Reactions
MONDO:0013157
FKRP
Q9H9S5
2.7.8.-
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