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
PHYH Unknown
9326939 9326940
GenCC
All2 Causal0 Unknown2
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phytanoyl-CoA hydroxylase deficiency 1 shared genePHYH Related via 1 shared gene including PHYH. Peroxisomal disorder 1 shared genePHYH Related via 1 shared gene including PHYH. Rhizomelic chondrodysplasia punctata 1 shared genePEX7 Related via 1 shared gene including PEX7. Chondrodysplasia 1 shared genePEX7 Related via 1 shared gene including PEX7. Peroxisome biogenesis disorder 1 shared genePEX7 Related via 1 shared gene including PEX7.