Familial dysautonomia Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_11589)
External Link http://www.omim.org/entry/223900
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1 genes associated with the Familial dysautonomia phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein