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Search summary (Disease ID: MONDO:0013761)
Number of enzymes:
1
Number of disease:
1
Number of reactomes:
1
Number of reactions:
1
Search results (Disease ID: MONDO:0013761)
MONDO:0013761
Disease Name:
childhood encephalopathy due to thiamine pyrophosphokinase deficiency
OMIM id:
OMIM:614458
Orphanet id:
Orphanet:293955
All associated enzymes in DAR:
TPK1
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DiseaseID
Gene
UniProt
EC numbers
Reactomes
Expanded Reactomes
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Reactions
MONDO:0013761
TPK1
Q9H3S4
2.7.6.2
R-HSA-196819
R-HSA-196819
Reactome Name:
Vitamin B1 (thiamin) metabolism
See in Reactome
R-HSA-196854
R-HSA-196854
Reactome Name:
Metabolism of vitamins and cofactors
See in Reactome
R-HSA-196849
R-HSA-196849
Reactome Name:
Metabolism of water-soluble vitamins and cofactors
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R-HSA-1430728
R-HSA-1430728
Reactome Name:
Metabolism
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Metabolism
R-HSA-196761
( R-HSA-196819 )
R-HSA-196761
Reaction Name:
2xTPK1:Mg2+ phosphorylates THMN
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