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Search summary (UniProt accession: Q9Y2B1)
Number of enzymes:
1
Number of disease:
1
Number of reactomes:
0
Number of reactions:
0
Search results (UniProt accession: Q9Y2B1)
DiseaseID
Gene
UniProt
EC numbers
Reactomes
Expanded Reactomes
Reactome roots
Reactions
MONDO:0014022
MONDO:0014022
Disease Name:
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
OMIM id:
OMIM:615041
Orphanet id:
Orphanet:899
All associated enzymes in DAR:
RXYLT1
RXYLT1
Q9Y2B1
2.4.2.61