ehlers-danlos syndrome Gene Set

Dataset DISEASES Curated Gene-Disease Association Evidence Scores
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)
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Genes

14 genes involed in the disease ehlers-danlos syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
DSE dermatan sulfate epimerase
FKBP14 FK506 binding protein 14, 22 kDa
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
SLC39A13 solute carrier family 39 (zinc transporter), member 13
TNXB tenascin XB