| Dataset | CTD Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| Description | An autosomal recessive disease that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding. (Human Disease Ontology, DOID_0050816) |
| External Link | http://ctdbase.org/detail.go?type=disease&acc=MESH:C536480 |
| Similar Terms | |
| Downloads & Tools |
1 genes/proteins associated with the disease Urofacial syndrome from the curated CTD Gene-Disease Associations dataset.
| Symbol | Name | Standardized Value |
|---|---|---|
| HPSE2 | heparanase 2 (inactive) | 2.88009 |