marfan syndrome Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_14323)
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Genes

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

Symbol Name Standardized Value
FBN1 fibrillin 1 2.70986
FBN2 fibrillin 2 1.86323
GRHL1 grainyhead-like 1 (Drosophila) 0.9839
MFAP5 microfibrillar associated protein 5 0.960797
KLF15 Kruppel-like factor 15 0.838885
SLC7A11 solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 0.838885
DLX1 distal-less homeobox 1 0.817565
ACP2 acid phosphatase 2, lysosomal 0.715618
TGFBR2 transforming growth factor, beta receptor II (70/80kDa) 0.709975
LTBP1 latent transforming growth factor beta binding protein 1 0.699919
GALT galactose-1-phosphate uridylyltransferase 0.693098
HYAL1 hyaluronoglucosaminidase 1 0.653276
METTL13 methyltransferase like 13 0.65288
AAAS achalasia, adrenocortical insufficiency, alacrimia 0.619051
TGFB1 transforming growth factor, beta 1 0.617877
COL1A2 collagen, type I, alpha 2 0.612401
SPAM1 sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 0.604591
ACTA2 actin, alpha 2, smooth muscle, aorta 0.58939
TGFBR1 transforming growth factor, beta receptor 1 0.576161
ACE angiotensin I converting enzyme 0.571495
CDK11A cyclin-dependent kinase 11A 0.509576
MYL2 myosin, light chain 2, regulatory, cardiac, slow 0.498467
TREX1 three prime repair exonuclease 1 0.482844
GALNS galactosamine (N-acetyl)-6-sulfatase 0.42739
SNRPN small nuclear ribonucleoprotein polypeptide N 0.421016
LOX lysyl oxidase 0.417644
WIPF2 WAS/WASL interacting protein family, member 2 0.398589
COL3A1 collagen, type III, alpha 1 0.385193
FXYD5 FXYD domain containing ion transport regulator 5 0.373698
MYBPC3 myosin binding protein C, cardiac 0.364454
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2 0.357446
SMAD2 SMAD family member 2 0.352291
FLCN folliculin 0.33651
NF2 neurofibromin 2 (merlin) 0.335412
RDX radixin 0.325187
THRB thyroid hormone receptor, beta 0.305948
LAX1 lymphocyte transmembrane adaptor 1 0.298731
MMP2 matrix metallopeptidase 2 0.279367
ARSH arylsulfatase family, member H 0.260891
BGN biglycan 0.25207
HTRA1 HtrA serine peptidase 1 0.236312
TPH1 tryptophan hydroxylase 1 0.224196
SMAD7 SMAD family member 7 0.214297
PKD1P6 polycystic kidney disease 1 (autosomal dominant) pseudogene 6 0.194865
DCN decorin 0.190786
LCT lactase 0.18591
TNC tenascin C 0.185016
TIMP1 TIMP metallopeptidase inhibitor 1 0.179239
PPT1 palmitoyl-protein thioesterase 1 0.174354
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 0.171535
NPPA natriuretic peptide A 0.160387