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refsum disease
(phenotype)
Summary
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Genetic Markers
Most Correlated Genes
Most Correlated SNPs
PHYH
PEX7
RDPA
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
Phytanoyl-CoA dioxygenase
methyl-branched fatty acid metabolic process
establishment of protein localization to peroxisome
peroxisome organization
HALLMARK_BILE_ACID_METABOLISM
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OMIM - Refsum disease
OMIM - Congenital disorder
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Literature
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Disruption of mitochondrial bioenergetics and calcium homeostasis by phytanic acid in the heart: Pot…
Fibroblast-specific genome-scale modelling predicts an imbalance in amino acid metabolism in Refsum …
PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease.
Evidence of increases of phytol and chlorophyllide by enzymatic dephytylation of chlorophylls in smo…
Cochlear Implantation in Siblings With Refsum's Disease.
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Clinical Trials
Most Relevant Clinical Trials
Inherited Retinal Degenerative Disease Registry
Natural History Study for Charcot Marie Tooth Disease
Study of Bile Acids in Patients With Peroxisomal Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid
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