Refsum Disease Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_10582)
External Link https://www.disgenet.org/browser/0/1/0/C1720802
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Genes

9 genes associated with the disease Refsum Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ALB albumin
CAT catalase
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
PEX7 peroxisomal biogenesis factor 7
PHYH phytanoyl-CoA 2-hydroxylase
PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein
S100A7 S100 calcium binding protein A7
SCP2 sterol carrier protein 2
TTR transthyretin