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Search summary (Disease ID: MONDO:0012248)
Number of enzymes:
1
Number of disease:
1
Number of reactomes:
1
Number of reactions:
1
Search results (Disease ID: MONDO:0012248)
MONDO:0012248
Disease Name:
autosomal recessive limb-girdle muscular dystrophy type 2K
OMIM id:
OMIM:609308
Orphanet id:
Orphanet:86812
All associated enzymes in DAR:
POMT1
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DiseaseID
Gene
UniProt
EC numbers
Reactomes
Expanded Reactomes
Reactome roots
Reactions
MONDO:0012248
POMT1
Q9Y6A1
2.4.1.109
R-HSA-5173105
R-HSA-5173105
Reactome Name:
O-linked glycosylation
See in Reactome
R-HSA-597592
R-HSA-597592
Reactome Name:
Post-translational protein modification
See in Reactome
R-HSA-392499
R-HSA-392499
Reactome Name:
Metabolism of proteins
See in Reactome
Metabolism of proteins
R-HSA-5615637
( R-HSA-5173105 )
R-HSA-5615637
Reaction Name:
POMT1:POMT2 transfers Man from Dol-P-Man to DAG1(30-653)
See in Reactome
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