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Refsum disease
Refsum disease
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
ADULT REFSUM DISEASE
MONDO:0009958
PEX7
Unknown
20301527
GWAS catalog
Peroxisome
Peroxisomal protein import
PHYH
Unknown
9326939
9326940
GenCC
Peroxisome
Alpha-oxidation of phytanate
Peroxisomal protein import
All
2
Causal
0
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
1
GenCC
1
ClinGen
0
Related Diseases
Diseases that share the most curated genes with Refsum disease.
5
View disease cluster →
phytanoyl-CoA hydroxylase deficiency
1 shared gene
PHYH
Related via 1 shared gene including PHYH.
Peroxisomal disorder
1 shared gene
PHYH
Related via 1 shared gene including PHYH.
Rhizomelic chondrodysplasia punctata
1 shared gene
PEX7
Related via 1 shared gene including PEX7.
Chondrodysplasia
1 shared gene
PEX7
Related via 1 shared gene including PEX7.
Peroxisome biogenesis disorder
1 shared gene
PEX7
Related via 1 shared gene including PEX7.
1
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