ehlers-danlos syndrome Gene Set

Dataset DISEASES Text-mining 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

130 genes co-occuring with the disease ehlers-danlos syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
COL3A1 collagen, type III, alpha 1 3.16074
COL5A1 collagen, type V, alpha 1 2.66977
TNXB tenascin XB 2.66569
TNXA tenascin XA (pseudogene) 2.65181
COL5A2 collagen, type V, alpha 2 2.31793
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 2.19883
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 2.10615
COL1A2 collagen, type I, alpha 2 2.0338
ZNF469 zinc finger protein 469 1.989
SLC39A13 solute carrier family 39 (zinc transporter), member 13 1.83319
PRDM5 PR domain containing 5 1.66555
COL1A1 collagen, type I, alpha 1 1.65655
COL5A3 collagen, type V, alpha 3 1.5934
FKBP14 FK506 binding protein 14, 22 kDa 1.59162
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6 1.55823
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 1.5238
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 1.47813
DCN decorin 1.47506
FBN1 fibrillin 1 1.34984
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 1.32454
ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 1.19014
BGN biglycan 1.18884
TNR tenascin R 1.10594
ASNSD1 asparagine synthetase domain containing 1 1.09545
TMEM194B transmembrane protein 194B 1.09545
WDR75 WD repeat domain 75 1.09545
C2ORF88 chromosome 2 open reading frame 88 1.09545
MFSD6 major facilitator superfamily domain containing 6 1.09545
ANKAR ankyrin and armadillo repeat containing 1.09545
OSGEPL1 O-sialoglycoprotein endopeptidase-like 1 1.09545
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 1.08118
TNC tenascin C 1.03704
DIRC1 disrupted in renal carcinoma 1 1.01765
LOX lysyl oxidase 1.01132
LAX1 lymphocyte transmembrane adaptor 1 0.968761
CARD16 caspase recruitment domain family, member 16 0.948685
TGFBR1 transforming growth factor, beta receptor 1 0.931242
COL2A1 collagen, type II, alpha 1 0.912668
FAM20B family with sequence similarity 20, member B 0.894589
ACAD8 acyl-CoA dehydrogenase family, member 8 0.882701
FN1 fibronectin 1 0.872053
DSEL dermatan sulfate epimerase-like 0.864274
CTXN2 cortexin 2 0.84544
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 0.844211
PPIB peptidylprolyl isomerase B (cyclophilin B) 0.822488
NAB1 NGFI-A binding protein 1 (EGR1 binding protein 1) 0.819616
ACTA2 actin, alpha 2, smooth muscle, aorta 0.818796
ORMDL1 ORMDL sphingolipid biosynthesis regulator 1 0.805257
INPP1 inositol polyphosphate-1-phosphatase 0.803205
HIBCH 3-hydroxyisobutyryl-CoA hydrolase 0.802795
PITX1 paired-like homeodomain 1 0.801974
FLNA filamin A, alpha 0.793361
TGFBR2 transforming growth factor, beta receptor II (70/80kDa) 0.786803
FMOD fibromodulin 0.763902
ACADSB acyl-CoA dehydrogenase, short/branched chain 0.756564
PCOLCE procollagen C-endopeptidase enhancer 0.735433
GULP1 GULP, engulfment adaptor PTB domain containing 1 0.725716
ROGDI rogdi homolog (Drosophila) 0.723694
ADAMTS14 ADAM metallopeptidase with thrombospondin type 1 motif, 14 0.708364
AUH AU RNA binding protein/enoyl-CoA hydratase 0.697911
ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif, 20 0.694301
ELN elastin 0.659215
BMP1 bone morphogenetic protein 1 0.637495
KCNB1 potassium channel, voltage gated Shab related subfamily B, member 1 0.626495
DCAF7 DDB1 and CUL4 associated factor 7 0.621792
MFAP5 microfibrillar associated protein 5 0.613183
LUM lumican 0.61162
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 0.564112
CTSC cathepsin C 0.556344
LHX1 LIM homeobox 1 0.535022
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 0.530381
COL11A1 collagen, type XI, alpha 1 0.517265
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 0.498085
ATP7A ATPase, Cu++ transporting, alpha polypeptide 0.496175
HMGCS2 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 0.495793
ZKSCAN7 zinc finger with KRAB and SCAN domains 7 0.493503
COL8A2 collagen, type VIII, alpha 2 0.474877
GALNS galactosamine (N-acetyl)-6-sulfatase 0.448817
CHD1 chromodomain helicase DNA binding protein 1 0.440914
WRNIP1 Werner helicase interacting protein 1 0.439786
CEP104 centrosomal protein 104kDa 0.438658
DYRK1B dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 0.43753
SLC39A6 solute carrier family 39 (zinc transporter), member 6 0.437154
SLC25A16 solute carrier family 25 (mitochondrial carrier), member 16 0.434148
ADGRG1 adhesion G protein-coupled receptor G1 0.433021
RXRA retinoid X receptor, alpha 0.424389
ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif, 5 0.421016
NELL1 NEL-like 1 (chicken) 0.408666
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 0.392257
MSH5 mutS homolog 5 0.388538
FBN2 fibrillin 2 0.388538
B4GALT6 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 0.374068
TRIM47 tripartite motif containing 47 0.365562
FKBP10 FK506 binding protein 10, 65 kDa 0.350084
MPI mannose phosphate isomerase 0.332852
HYAL1 hyaluronoglucosaminidase 1 0.327375
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10 0.316456
SUOX sulfite oxidase 0.307033
RAD21 RAD21 homolog (S. pombe) 0.285086
SPAM1 sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 0.282582
MSTN myostatin 0.279724
KIF21A kinesin family member 21A 0.278297
CFP complement factor properdin 0.274732
CP ceruloplasmin (ferroxidase) 0.272241
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 0.264785
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3 0.26266
TRPS1 trichorhinophalangeal syndrome I 0.261599
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2 0.254888
DUT deoxyuridine triphosphatase 0.227988
KRT9 keratin 9, type I 0.223853
COL11A2P1 collagen, type XI, alpha 2 pseudogene 1 0.223165
COL11A2 collagen, type XI, alpha 2 0.222822
COL6A2 collagen, type VI, alpha 2 0.207245
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 0.201635
DSE dermatan sulfate epimerase 0.195183
MYEF2 myelin expression factor 2 0.193915
THBS2 thrombospondin 2 0.190786
ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 0.189551
MATK megakaryocyte-associated tyrosine kinase 0.182957
F5 coagulation factor V (proaccelerin, labile factor) 0.180367
TREX1 three prime repair exonuclease 1 0.176757
PMM2 phosphomannomutase 2 0.172038
DHX9 DEAH (Asp-Glu-Ala-His) box helicase 9 0.164786
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1 0.162908
CSN3 casein kappa 0.161331
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like 0.145718
PITX2 paired-like homeodomain 2 0.145235
FOXO1 forkhead box O1 0.143056
MNX1 motor neuron and pancreas homeobox 1 0.142873
GLB1 galactosidase, beta 1 0.137947