Emanuel syndrome Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting parebral fissures, deep set eyes, low hanging columnessa and long philtrum), congenital heart defects and kidney abnormalities. (Orphanet Rare Disease Ontology, Orphanet_96170)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C535733
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Genes

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

Symbol Name Standardized Value
DER22T11-22 Emanuel syndrome 2.88009