| 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 |
| Similar Terms | |
| Downloads & Tools |
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 |
