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Search summary (Disease ID: MONDO:0014711)
Number of enzymes:
1
Number of disease:
1
Number of reactomes:
1
Number of reactions:
1
Search results (Disease ID: MONDO:0014711)
MONDO:0014711
Disease Name:
autosomal dominant Charcot-Marie-Tooth disease type 2W
OMIM id:
OMIM:616625
Orphanet id:
Orphanet:488333
All associated enzymes in DAR:
HARS1
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DiseaseID
Gene
UniProt
EC numbers
Reactomes
Expanded Reactomes
Reactome roots
Reactions
MONDO:0014711
HARS1
P12081
6.1.1.21
R-HSA-379716
R-HSA-379716
Reactome Name:
Cytosolic tRNA aminoacylation
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R-HSA-392499
R-HSA-392499
Reactome Name:
Metabolism of proteins
See in Reactome
R-HSA-379724
R-HSA-379724
Reactome Name:
tRNA Aminoacylation
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R-HSA-72766
R-HSA-72766
Reactome Name:
Translation
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Metabolism of proteins
R-HSA-379844
( R-HSA-379716 )
R-HSA-379844
Reaction Name:
histidine + tRNA(His) + ATP => His-tRNA(His) + AMP + pyrophosphate
See in Reactome
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