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Beta-ketothiolase deficiency
Beta-ketothiolase deficiency
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
BETA KETOTHIOLASE DEFICIENCY
MESH:C535434
ACAT1
Unknown
—
CTD
Fatty acid degradation
Valine, leucine and isoleucine degradation
Lysine degradation
Tryptophan metabolism
Pyruvate metabolism
Glyoxylate and dicarboxylate metabolism
Butanoate metabolism
Terpenoid backbone biosynthesis
Metabolic pathways
Carbon metabolism
Fatty acid metabolism
Fat digestion and absorption
Branched-chain amino acid catabolism
Utilization of Ketone Bodies
Synthesis of Ketone Bodies
+12 more
BETA-KETOTHIOLASE DEFICIENCY
134
MONDO:0008760
ACAT1
Unknown
23430882
7907600
1979337
1627655
1346617
4690360
1715688
11914035
9700610
ClinGen
,
GWAS catalog
,
Orphanet
Fatty acid degradation
Valine, leucine and isoleucine degradation
Lysine degradation
Tryptophan metabolism
Pyruvate metabolism
Glyoxylate and dicarboxylate metabolism
Butanoate metabolism
Terpenoid backbone biosynthesis
Metabolic pathways
Carbon metabolism
Fatty acid metabolism
Fat digestion and absorption
Branched-chain amino acid catabolism
Utilization of Ketone Bodies
Synthesis of Ketone Bodies
+12 more
All
1
Causal
0
Unknown
1
Select all
Clear
ClinVar
0
Orphanet
1
Disgenet
0
CTD
1
HPO
0
GWAS catalog
1
GenCC
0
ClinGen
1
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Related via 1 shared gene including ACAT1.
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1 shared gene
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Related via 1 shared gene including ACAT1.
Carbohydrate metabolism disease
1 shared gene
ACAT1
Related via 1 shared gene including ACAT1.
Seizures
1 shared gene
ACAT1
Related via 1 shared gene including ACAT1.
Kidney failure
1 shared gene
ACAT1
Related via 1 shared gene including ACAT1.
1
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