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propionic acidemia
propionic acidemia
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
propionic acidemia
PCCA
Causal
10101253
10820128
12189489
17966092
8225321
8295402
8411997
9385377
9683601
9887338
ClinGen
Valine, leucine and isoleucine degradation
Glyoxylate and dicarboxylate metabolism
Propanoate metabolism
Metabolic pathways
Carbon metabolism
Biotin transport and metabolism
Defective HLCS causes multiple carboxylase deficiency
Propionyl-CoA catabolism
+5 more
propionic acidemia
PCCB
Causal
17051315
33127324
37839763
ClinGen
Valine, leucine and isoleucine degradation
Glyoxylate and dicarboxylate metabolism
Propanoate metabolism
Metabolic pathways
Carbon metabolism
Biotin transport and metabolism
Defective HLCS causes multiple carboxylase deficiency
Propionyl-CoA catabolism
+5 more
All
2
Causal
2
Unknown
0
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
2
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Diseases that share the most curated genes with propionic acidemia.
5
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Amino acid metabolism disorder
2 shared genes
PCCA, PCCB
Related via 2 shared genes including PCCA, PCCB.
Pontocerebellar hypoplasia
1 shared gene
PCCA
Related via 1 shared gene including PCCA.
Large artery stroke
1 shared gene
PCCA
Related via 1 shared gene including PCCA.
Hyperlipidemia
1 shared gene
PCCB
Related via 1 shared gene including PCCB.
Venous thromboembolism
1 shared gene
PCCB
Related via 1 shared gene including PCCB.
1
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