ABCD syndrome Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB). (Human Disease Ontology, DOID_0050600)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C535334
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Genes

1 genes/proteins associated with the disease ABCD syndrome from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
EDNRB endothelin receptor type B 2.88009