Cerebral folate deficiency Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite. (Human Phenotype Ontology, HP_0012446)
External Link http://www.omim.org/entry/613068
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1 genes associated with the Cerebral folate deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
FOLR1 folate receptor 1 (adult)