Allan-Herndon-Dudley syndrome Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An X-linked disease that is caused by mutation in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement. (Human Disease Ontology, DOID_0050631)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C537047
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Genes

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

Symbol Name Standardized Value
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter) 2.88009