GO:0031012
| Ontology term |
Gene (Gene Symbol) |
Gene Name |
Pathways |
Associated Diseases |
| Extracellular matrix |
| APOE |
Apolipoprotein E |
Cholesterol metabolism, Alzheimer disease, Nuclear signaling by ERBB4, Scavenging by Class A Receptors, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors, Post-translational protein phosphorylation, Chylomicron assembly, Chylomicron remodeling, Chylomicron clearance, HDL remodeling, NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux, Retinoid metabolism and transport |
Dysbetalipoproteinemia, Apolipoprotein E, Deficiency or Defect of, Hyperlipemia, Hyperlipoproteinemia, Obesity, Seizures, Hypertensive disease, Senile Dementia, Moyamoya disease, Carotid Artery Diseases, Lung Cancer, Atherosclerosis, Wilson Disease, Psoriasis, Delirium, Acute Coronary Syndrome, Alzheimer Disease, Hyperlipidemia, Hypercholesterolemia, Ischemic Cardiomyopathy, Myocardial Infarction, Adenocarcinoma, Jacksonian Seizure, Cribriform Carcinoma, Betalipoproteinemia, Arteriosclerosis, Liver Diseases, Kidney Insufficiency, Vitiligo, Schizophrenia, Cerebral Amyloid Angiopathy, Geographic Atrophy, Macular Degeneration, Hepatitis, Lewy Body Disease, Glomerulopathy, Dyslipidemias, Bipolar Disorder, Amyloidosis, Multiple Sclerosis, Atonic seizures, Carotid Atherosclerosis, Cognition Disorders, Coronary heart disease, Carcinoma, Pustulosis, Sea-Blue Histiocyte Syndrome, Kidney Failure, PCOS, Obstructive Sleep Apnea, Gluocose Intolerance, Preeclampsia
|
| Extracellular matrix |
| BGN |
Biglycan |
A tetrasaccharide linker sequence is required for GAG synthesis, Chondroitin sulfate biosynthesis, Dermatan sulfate biosynthesis, CS/DS degradation, ECM proteoglycans, Defective B4GALT7 causes EDS, progeroid type, Defective B3GAT3 causes JDSSDHD, Defective CHST3 causes SEDCJD, Defective CHST14 causes EDS, musculocontractural type, Defective CHSY1 causes TPBS, Defective B3GALT6 causes EDSP2 and SEMDJL1 |
Marfan Syndrome, Rheumatoid Arthritis, Meester-Loeys Syndrome, Aortic aneurysm, Ehlers-Danlos Syndrome, Skeletal Dysplasia, PCOS
|
| Extracellular matrix |
| CHI3L1 |
Chitinase 3 like 1 |
Neutrophil degranulation |
Arthritis, Glioma, Glioblastoma Multiforme, Glioblastoma, Osteoarthrosis Deformans, PCOS
|
| Extracellular matrix |
| COL8A1 |
Collagen type VIII alpha 1 chain |
Collagen degradation, Collagen biosynthesis and modifying enzymes, Assembly of collagen fibrils and other multimeric structures, Integrin cell surface interactions, Collagen chain trimerization |
Macular Degeneration, Breast Cancer, Cleft upper lip, Congenital Abnormality, Geographic Atrophy, PCOS
|
| Extracellular matrix |
| HAPLN1 |
Hyaluronan and proteoglycan link protein 1 |
ECM proteoglycans |
Colorectal Cancer, Rheumatoid Arthritis, Limb Deformities, Dwarfism, PCOS
|
| Extracellular matrix |
| FBLN1 |
Fibulin 1 |
Molecules associated with elastic fibres |
Bipolar Disorder, Prostate cancer, Endometrioma, Endometriosis, PCOS
|
| Extracellular matrix |
| FBN1 |
Fibrillin 1 |
TGF-beta signaling pathway, Degradation of the extracellular matrix, Elastic fibre formation, Molecules associated with elastic fibres, Integrin cell surface interactions, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), Post-translational protein phosphorylation |
Marfan Syndrome, Genetic Diseases, Weill-Marchesani syndrome, Intellectual Disability, Overlap Connective Tissue Disease, Hyperinsulinism, Ectopia lentis, Arachnodactyly, Skeletal Dysplasia, Pectus Carinatum, Brain Aneurysm, Endometriosis, Marfan Lipodystrophy Syndrome, Byzanthine arch palate, Aortic Aneurysm, Wide mouth, Aortic Rupture, Myopia, Macrocephalus, Lens Subluxation, Contractural Arachnodactyly, Hyperglycemia, Stiff Skin Syndrome, Liver Cirrhosis, Endometrioma, Liver Fibrosis, Aortic root dilatation, PCOS, Obstructive Sleep Apnea
|
| Extracellular matrix |
| CCN1 |
Cellular communication network factor 1 |
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), Post-translational protein phosphorylation |
Liver Cancer, Lung Cancer, Rheumatoid Arthritis, PCOS, Gluocose Intolerance
|
| Extracellular matrix |
| LUM |
Lumican |
Proteoglycans in cancer, Keratan sulfate biosynthesis, Keratan sulfate degradation, Integrin cell surface interactions, Defective CHST6 causes MCDC1, Defective ST3GAL3 causes MCT12 and EIEE15, Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) |
Muscular Dystrophy, Liver Fibrosis, Liver Cirrhosis, PCOS
|
| Extracellular matrix |
| PI3 |
Peptidase inhibitor 3 |
Antimicrobial peptides, Formation of the cornified envelope |
Dermatitis, PCOS
|
| Extracellular matrix |
| THBS1 |
Thrombospondin 1 |
Rap1 signaling pathway, p53 signaling pathway, Phagosome, PI3K-Akt signaling pathway, TGF-beta signaling pathway, Focal adhesion, ECM-receptor interaction, Malaria, Human papillomavirus infection, Proteoglycans in cancer, MicroRNAs in cancer, Bladder cancer, Platelet degranulation , Signaling by PDGF, Integrin cell surface interactions, Defective B3GALTL causes Peters-plus syndrome (PpS), O-glycosylation of TSR domain-containing proteins, RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function |
Diabetic Retinopathy, Breast Cancer, Juvenile arthritis, Liver Cirrhosis, Still Disease, Liver Fibrosis, Schizophrenia, Nephritis, Interstitial, Diabetic Cardiomyopathies, PCOS, Vulvar Cancer
|
| Extracellular matrix |
| TIMP1 |
TIMP metallopeptidase inhibitor 1 |
HIF-1 signaling pathway, Platelet degranulation , Activation of Matrix Metalloproteinases, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), Interleukin-10 signaling, Interleukin-4 and Interleukin-13 signaling, Post-translational protein phosphorylation |
Pulmonary Fibrosis, Tumoral calcinosis, Cholangitis, Liver Cirrhosis, Oral submucosal fibrosis, Aortic Valve Insufficiency, Heart Diseases, Autoimmune Diseases, Wilson Disease, Respiratory Distress Syndrome, Vascular Diseases, Female Urogenital Diseases, Hypertensive disease, Diabetes Mellitus , Glomerulonephritis, Varicosity, Cholestasis, PCOS, Obstructive Sleep Apnea, Preeclampsia
|
| Extracellular matrix |
| VEGFA |
Vascular endothelial growth factor A |
EGFR tyrosine kinase inhibitor resistance, MAPK signaling pathway, Ras signaling pathway, Rap1 signaling pathway, HIF-1 signaling pathway, PI3K-Akt signaling pathway, VEGF signaling pathway, Focal adhesion, Relaxin signaling pathway, AGE-RAGE signaling pathway in diabetic complications, Human cytomegalovirus infection, Human papillomavirus infection, Kaposi sarcoma-associated herpesvirus infection, Pathways in cancer, Proteoglycans in cancer, MicroRNAs in cancer, Renal cell carcinoma, Pancreatic cancer, Bladder cancer, Rheumatoid arthritis, Fluid shear stress and atherosclerosis, Platelet degranulation , Regulation of gene expression by Hypoxia-inducible Factor, Signaling by VEGF, VEGF ligand-receptor interactions, VEGF binds to VEGFR leading to receptor dimerization, VEGFA-VEGFR2 Pathway, VEGFR2 mediated cell proliferation, Interleukin-4 and Interleukin-13 signaling, TFAP2 (AP-2) family regulates transcription of growth factors and their receptors |
Psoriasis, Arteriosclerosis, Mental Depression, Asthma, Mood Disorders, Myeloid Leukemia, Rhabdomyoma, Kidney Failure, Prostate cancer, Glioblastoma, Adenocarcinoma, Rheumatoid Arthritis, Heart Failure, Gastric ulcer, Brain Neoplasms, Skeletal Dysplasia, Neck Neoplasms, Myocardial Ischemia, Status Epilepticus, Retinal Vein Occlusion, Senile Dementia, Memory Disorders, Ischemic Encephalopathy, Learning Disorders, Myocardial Failure, Retinal Diseases, Atherosclerosis, Irvine-Gass Syndrome, Macular retinal edema, Dermatitis, Retinal Vein Thrombosis, Macular Degeneration, Kidney Insufficiency, Osteosarcoma, Diabetic Retinopathy, Thrombotic Microangiopathies, Alzheimer Disease, Epilepsy, Cardiovascular Abnormalities, Schwartz-Jampel Syndrome, Urinary Tract Cancer, Liver Fibrosis, Head Neoplasms, Diabetic Nephropathy, Diabetes Mellitus, Bipolar Disorder, Petit mal status, Corneal Neovascularization, Endometrial Cancer, Head and Neck Neoplasms, Cribriform Carcinoma, Portal Hypertension, Leukemia, Colonic Neoplasms, Carcinoma, Lung Cancer, Gliosarcoma, Liver Failure, Digestive Track Neoplasms, Heart Diseases, Glomerulosclerosis, Melnick-Needles Syndrome, Van Buchem disease, Liver Cirrhosis, Genitourinary Cancer, Cruveilhier-Baumgarten Syndrome, Macular Edema, Neoplasms, Cervical Cancer, Schizophrenia, Chronic Bronchitis, Renal Cancer, Hemangioma, Pancreatic Neoplasm, Pustulosis, Glioblastoma Multiforme, PCOS, Vulvar Cancer, Obstructive Sleep Apnea, Gluocose Intolerance, Preeclampsia
|
| Extracellular matrix |
| MMP26 |
Matrix metallopeptidase 26 |
|
Dermatitis, PCOS
|
| Extracellular matrix |
| MMP25 |
Matrix metallopeptidase 25 |
Parathyroid hormone synthesis, secretion and action, Activation of Matrix Metalloproteinases, Neutrophil degranulation |
Colonic Neoplasms, Mouth Neoplasms, Congenital enamel hypoplasia, Intraepithelial Neoplasia, Odontogenic neoplasm, Arthritis, Multiple Sclerosis, PCOS
|
| Extracellular matrix |
| FBN3 |
Fibrillin 3 |
Degradation of the extracellular matrix, Elastic fibre formation, Molecules associated with elastic fibres |
PCOS, Arthrogryposis, Chronic Obstructive Pulmonary Disease, Marfan Syndrome, Scoliosis
|
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