Marfan Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_14323)
External Link https://www.disgenet.org/browser/0/1/0/C0024796
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
ACSM3 acyl-CoA synthetase medium-chain family member 3
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTB actin, beta
ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1
ADAMTSL4 ADAMTS-like 4
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
ALOX5 arachidonate 5-lipoxygenase
ANGPT2 angiopoietin 2
ATM ATM serine/threonine kinase
AXIN2 axin 2
BGLAP bone gamma-carboxyglutamate (gla) protein
BRAF B-Raf proto-oncogene, serine/threonine kinase
CASZ1 castor zinc finger 1
CAT catalase
CBS cystathionine-beta-synthase
CCN1 cellular communication network factor 1
CD109 CD109 molecule
CD34 CD34 molecule
CD44 CD44 molecule (Indian blood group)
CDH5 cadherin 5, type 2 (vascular endothelium)
CLDN6 claudin 6
CNN1 calponin 1, basic, smooth muscle
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL2A1 collagen, type II, alpha 1
COL3A1 collagen, type III, alpha 1
COX2
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CRP C-reactive protein, pentraxin-related
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
DCBLD2 discoidin, CUB and LCCL domain containing 2
DCN decorin
DECR1 2,4-dienoyl CoA reductase 1, mitochondrial
EGF epidermal growth factor
ELN elastin
EPHB2 EPH receptor B2
FADS3 fatty acid desaturase 3
FBLN2 fibulin 2
FBLN5 fibulin 5
FBN1 fibrillin 1
FBN2 fibrillin 2
FBN3 fibrillin 3
FXN frataxin
GAL3ST1 galactose-3-O-sulfotransferase 1
GPR162 G protein-coupled receptor 162
GRAP2 GRB2-related adaptor protein 2
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KLF4 Kruppel-like factor 4 (gut)
LAMC1 laminin, gamma 1 (formerly LAMB2)
LAMC2 laminin, gamma 2
LOC102724560 cystathionine beta-synthase
LOX lysyl oxidase
LRP1 low density lipoprotein receptor-related protein 1
LTBP2 latent transforming growth factor beta binding protein 2
MAP2K7 mitogen-activated protein kinase kinase 7
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK3 mitogen-activated protein kinase 3
MET MET proto-oncogene, receptor tyrosine kinase
MFAP1 microfibrillar-associated protein 1
MFAP4 microfibrillar-associated protein 4
MMP12 matrix metallopeptidase 12
MMP13 matrix metallopeptidase 13
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MMP3 matrix metallopeptidase 3
MMP9 matrix metallopeptidase 9
MMRN1 multimerin 1
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MUS81 MUS81 structure-specific endonuclease subunit
MYBPC3 myosin binding protein C, cardiac
NF1 neurofibromin 1
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH1 notch 1
NOTCH3 notch 3
NOX4 NADPH oxidase 4
P3H2 prolyl 3-hydroxylase 2
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLXNA2 plexin A2
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
PPARG peroxisome proliferator-activated receptor gamma
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
RBM8A RNA binding motif protein 8A
REN renin
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
ROS1 ROS proto-oncogene 1 , receptor tyrosine kinase
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SGSM3 small G protein signaling modulator 3
SIGLEC7 sialic acid binding Ig-like lectin 7
SIRT1 sirtuin 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLN sarcolipin
SMAD2 SMAD family member 2
SMAD3 SMAD family member 3
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SPESP1 sperm equatorial segment protein 1
SPRTN SprT-like N-terminal domain
SULT1E1 sulfotransferase family 1E, estrogen-preferring, member 1
SUMF2 sulfatase modifying factor 2
TAGLN transgelin
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGFB3 transforming growth factor, beta 3
TGFBI transforming growth factor, beta-induced, 68kDa
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TGFBR3 transforming growth factor, beta receptor III
THBS1 thrombospondin 1
TIMP2 TIMP metallopeptidase inhibitor 2
TIMP3 TIMP metallopeptidase inhibitor 3
TNF tumor necrosis factor
TP53 tumor protein p53
TRPV1 transient receptor potential cation channel, subfamily V, member 1
VCAN versican
VEGFA vascular endothelial growth factor A
VPS51 vacuolar protein sorting 51 homolog (S. cerevisiae)
VWF von Willebrand factor