Tyrosinemia type I Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body. (Human Disease Ontology, DOID_0050726)
External Link http://www.omim.org/entry/276700
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1 genes associated with the Tyrosinemia type I phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)