Kleefstra Syndrome Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features. (Orphanet Rare Disease Ontology, Orphanet_261494)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C563043
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Genes

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

Symbol Name Standardized Value
EHMT1 euchromatic histone-lysine N-methyltransferase 1 2.88009