Ehlers-Danlos Syndrome Gene Set

Dataset DisGeNET 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 https://www.disgenet.org/browser/0/1/0/C1848029
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Genes

100 genes associated with the disease Ehlers-Danlos Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACAD8 acyl-CoA dehydrogenase family, member 8
ACADSB acyl-CoA dehydrogenase, short/branched chain
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTB actin, beta
ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif, 14
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif, 3
ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif, 4
ADGRG1 adhesion G protein-coupled receptor G1
AEBP1 AE binding protein 1
ALB albumin
AR androgen receptor
ATF2 activating transcription factor 2
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
AUH AU RNA binding protein/enoyl-CoA hydratase
B3GALT4 UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BDNF brain-derived neurotrophic factor
BGN biglycan
C1R complement component 1, r subcomponent
C1RL complement component 1, r subcomponent-like
C1S complement component 1, s subcomponent
CENPJ centromere protein J
CGA glycoprotein hormones, alpha polypeptide
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CIT citron rho-interacting serine/threonine kinase
COL12A1 collagen, type XII, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COL4A1 collagen, type IV, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COL5A3 collagen, type V, alpha 3
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
DCN decorin
DHCR7 7-dehydrocholesterol reductase
DMPK dystrophia myotonica-protein kinase
DSE dermatan sulfate epimerase
EDA ectodysplasin A
ELN elastin
ESM1 endothelial cell-specific molecule 1
FAM20B family with sequence similarity 20, member B
FBN1 fibrillin 1
FKBP14 FK506 binding protein 14, 22 kDa
FLNA filamin A, alpha
FN1 fibronectin 1
GDNF glial cell derived neurotrophic factor
HCRT hypocretin (orexin) neuropeptide precursor
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
HSPG2 heparan sulfate proteoglycan 2
IGFBP1 insulin-like growth factor binding protein 1
IL1R2 interleukin 1 receptor, type II
IL6 interleukin 6
LOX lysyl oxidase
LRP5 low density lipoprotein receptor-related protein 5
LRRK2 leucine-rich repeat kinase 2
LUM lumican
MAOA monoamine oxidase A
MED18 mediator complex subunit 18
MMRN1 multimerin 1
MSTN myostatin
NPPC natriuretic peptide C
NPR2 natriuretic peptide receptor 2
OSM oncostatin M
P3H3 prolyl 3-hydroxylase 3
P3H4 prolyl 3-hydroxylase family member 4 (non-enzymatic)
PAEP progestagen-associated endometrial protein
PDE4A phosphodiesterase 4A, cAMP-specific
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PRDM5 PR domain containing 5
PRG2 proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
REM1 RAS (RAD and GEM)-like GTP-binding 1
ROGDI rogdi homolog (Drosophila)
SEC24D SEC24 family member D
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SNAI1 snail family zinc finger 1
SP140 SP140 nuclear body protein
TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein 2
TBX1 T-box 1
TGFB1 transforming growth factor, beta 1
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TIMP2 TIMP metallopeptidase inhibitor 2
TNXB tenascin XB
VCAN versican
VWF von Willebrand factor
ZEB2 zinc finger E-box binding homeobox 2
ZNF469 zinc finger protein 469