Ehlers-Danlos Syndrome Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A collagen disease and a monogenic disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. (Human Disease Ontology, DOID_13359)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:D004535
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Genes

2 genes/proteins associated with the disease Ehlers-Danlos Syndrome from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
SLC39A13 solute carrier family 39 (zinc transporter), member 13 2.88009
COL3A1 collagen, type III, alpha 1 2.88009