Showing entry for Marfan Syndrome



                               
General Disease Information
BXGD IdBXGD001806
Disease NameMarfan Syndrome
Disease CUI IdC0024796
MeSH Codes C16   C17   C05   C14  
Disease Class NameCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
Semantic TypeDisease or Syndrome
Human Phenotype Ontology Id   
Human Phenotype Ontology Term
Disease Ontology Id DOID:7  
Disease Ontology Class Namedisease of anatomical entity
Disorder Network disorder-protein-compound-food associations
The  disease-related  target proteins
Proteins
Uniport Id BXGT Id Protein Name Gene Status Protein Class
Uniport Id BXGT Id Protein name Gene Status Protein class
O00767 BXGT003949 Acyl-CoA desaturase 6319 reviewed
O14733 BXGT004087 Dual specificity mitogen-activated protein kinase kinase 7 5609 reviewed Kinase
O15123 BXGT004130 Angiopoietin-2 285 reviewed Signaling
P00441 BXGT005540 Superoxide dismutase [Cu-Zn] 6647 reviewed Enzyme
P00797 BXGT005658 Renin 5972 reviewed Enzyme
P01019 BXGT005717 Angiotensinogen 183 reviewed Enzyme modulator
P01133 BXGT005736 Pro-epidermal growth factor 1950 reviewed
P01137 BXGT005737 Transforming growth factor beta-1 proprotein 7040 reviewed Signaling
P01375 BXGT005753 Tumor necrosis factor 7124 reviewed Signaling
P02452 BXGT005878 Collagen alpha-1(I) chain 1277 reviewed
P02458 BXGT005879 Collagen alpha-1(II) chain 1280 reviewed
P02461 BXGT005880 Collagen alpha-1(III) chain 1281 reviewed
P02741 BXGT005936 C-reactive protein 1401 reviewed
P02818 BXGT005969 Osteocalcin 632 reviewed
P04040 BXGT006132 Catalase 847 reviewed Enzyme
P04179 BXGT006163 Superoxide dismutase [Mn], mitochondrial 6648 reviewed Enzyme
P04275 BXGT006180 von Willebrand factor 7450 reviewed Enzyme modulator
P04637 BXGT006243 Cellular tumor antigen p53 7157 reviewed Transcription factor
P07996 BXGT006710 Thrombospondin-1 7057 reviewed
P08253 BXGT006757 72 kDa type IV collagenase 4313 reviewed Enzyme
P08254 BXGT006758 Stromelysin-1 4314 reviewed Enzyme
P08581 BXGT006794 Hepatocyte growth factor receptor 4233 reviewed Kinase
P08922 BXGT006843 Proto-oncogene tyrosine-protein kinase ROS 6098 reviewed Kinase
P09917 BXGT006941 Arachidonate 5-lipoxygenase 240 reviewed Enzyme
P0DN79 BXGT007511 Cystathionine beta-synthase-like protein 875 reviewed
P10600 BXGT007584 Transforming growth factor beta-3 proprotein 7043 reviewed Signaling
P14780 BXGT008053 Matrix metalloproteinase-9 4318 reviewed Enzyme
P15056 BXGT008075 Serine/threonine-protein kinase B-raf 673 reviewed Kinase
P15692 BXGT008147 Vascular endothelial growth factor A 7422 reviewed Signaling
P16070 BXGT008186 CD44 antigen 960 reviewed
P21359 BXGT008640 Neurofibromin 4763 reviewed Enzyme modulator
P27361 BXGT009176 Mitogen-activated protein kinase 3 5595 reviewed Kinase
P28300 BXGT009243 Protein-lysine 6-oxidase 4015 reviewed
P28482 BXGT009263 Mitogen-activated protein kinase 1 5594 reviewed Kinase
P29323 BXGT009334 Ephrin type-B receptor 2 2048 reviewed Kinase
P29474 BXGT009352 Nitric oxide synthase, endothelial 4846 reviewed
P30556 BXGT009441 Type-1 angiotensin II receptor 185 reviewed G-protein coupled receptor
P35228 BXGT009800 Nitric oxide synthase, inducible 4843 reviewed
P35354 BXGT009816 Prostaglandin G/H synthase 2 5743 reviewed Enzyme
P35520 BXGT009842 Cystathionine beta-synthase 875 reviewed
P35555 BXGT009845 Fibrillin-1 2200 reviewed Calcium-binding protein
P36897 BXGT009941 TGF-beta receptor type-1 7046 reviewed Kinase
P37173 BXGT009970 TGF-beta receptor type-2 7048 reviewed Kinase
P37231 BXGT009972 Peroxisome proliferator-activated receptor gamma 5468 reviewed Nuclear receptor
P39900 BXGT010148 Macrophage metalloelastase 4321 reviewed Enzyme
P42898 BXGT010344 Methylenetetrahydrofolate reductase 4524 reviewed
P45452 BXGT010462 Collagenase 3 4322 reviewed Enzyme
P46108 BXGT010509 Adapter molecule crk 1398 reviewed
P46531 BXGT010526 Neurogenic locus notch homolog protein 1 4851 reviewed
P49888 BXGT010756 Estrogen sulfotransferase 6783 reviewed
P50281 BXGT010788 Matrix metalloproteinase-14 4323 reviewed Enzyme
P51787 BXGT010889 Potassium voltage-gated channel subfamily KQT member 1 3784 reviewed Ion channel
P60709 BXGT011322 Actin, cytoplasmic 1 60 reviewed Cellular structure
P62736 BXGT011452 Actin, aortic smooth muscle 59 reviewed Cellular structure
P84022 BXGT012027 Mothers against decapentaplegic homolog 3 4088 reviewed Transcription factor
Q07837 BXGT012943 Neutral and basic amino acid transport protein rBAT 6519 reviewed Transporter
Q07954 BXGT012950 Prolow-density lipoprotein receptor-related protein 1 4035 reviewed
Q13155 BXGT013320 Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 7965 reviewed
Q13315 BXGT013339 Serine-protein kinase ATM 472 reviewed Kinase
Q15582 BXGT013581 Transforming growth factor-beta-induced protein ig-h3 7045 reviewed Signaling
Q15796 BXGT013599 Mothers against decapentaplegic homolog 2 4087 reviewed Transcription factor
Q16539 BXGT013634 Mitogen-activated protein kinase 14 1432 reviewed Kinase
Q16595 BXGT013643 Frataxin, mitochondrial 2395 reviewed Enzyme
Q16698 BXGT013659 2,4-dienoyl-CoA reductase, mitochondrial 1666 reviewed Enzyme
Q8IVL5 BXGT018346 Prolyl 3-hydroxylase 2 55214 reviewed Extracellular structure
Q8NBJ7 BXGT018537 Inactive C-alpha-formylglycine-generating enzyme 2 25870 reviewed
Q8NER1 BXGT018556 Transient receptor potential cation channel subfamily V member 1 7442 reviewed Ion channel
Q96EB6 BXGT019646 NAD-dependent protein deacetylase sirtuin-1 23411 reviewed Epigenetic regulator
Q96NY9 BXGT019703 Crossover junction endonuclease MUS81 80198 reviewed
Q9NPH5 BXGT021159 NADPH oxidase 4 50507 reviewed Enzyme
Q9UHI8 BXGT021701 A disintegrin and metalloproteinase with thrombospondin motifs 1 9510 reviewed Enzyme
Q9UM47 BXGT021772 Neurogenic locus notch homolog protein 3 4854 reviewed
Q9Y286 BXGT022225 Sialic acid-binding Ig-like lectin 7 27036 reviewed Receptor
Q01995 BXGT022678 Transgelin 6876 reviewed Cellular structure
P08123 BXGT024477 Collagen alpha-2(I) chain 1278 reviewed
Q9H040 BXGT024831 SprT-like domain-containing protein Spartan 83932 reviewed
P00403 BXGT026137 Cytochrome c oxidase subunit 2 4513 reviewed Enzyme
The  disease-related  compounds
Compounds
BXGC Id Compound Name Structure Molecular Weight Number of targets?Number of times compound connecting the disease , higher numbers indicate the compound is more associated with the disease
The  disease-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compounds in food?Number of compounds in food that connecting disease, higher numbers indicate the more compounds in food are more associated with the dusease