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Search summary (Disease ID: MONDO:0011835)
Number of enzymes:
1
Number of disease:
1
Number of reactomes:
1
Number of reactions:
1
Search results (Disease ID: MONDO:0011835)
MONDO:0011835
Disease Name:
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
OMIM id:
OMIM:613832
Orphanet id:
Orphanet:70595
All associated enzymes in DAR:
TWNK
. The disease is also associated to other non-enzyme proteins (not in DAR).
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DiseaseID
Gene
UniProt
EC numbers
Reactomes
Expanded Reactomes
Reactome roots
Reactions
MONDO:0011835
TWNK
Q96RR1
3.6.4.12
R-HSA-2151201
R-HSA-2151201
Reactome Name:
Transcriptional activation of mitochondrial biogenesis
See in Reactome
R-HSA-1592230
R-HSA-1592230
Reactome Name:
Mitochondrial biogenesis
See in Reactome
R-HSA-1852241
R-HSA-1852241
Reactome Name:
Organelle biogenesis and maintenance
See in Reactome
Organelle biogenesis and maintenance
R-HSA-1592239
( R-HSA-2151201 )
R-HSA-1592239
Reaction Name:
Expression of PEO1
See in Reactome
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