GO:0005198

Ontology term Gene (Gene Symbol) Gene Name Pathways Associated Diseases
Structural molecule activity
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
Structural molecule activity
BGLAP Bone gamma-carboxyglutamate protein Parathyroid hormone synthesis, secretion and action, Gamma-carboxylation of protein precursors, Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus, Removal of aminoterminal propeptides from gamma-carboxylated proteins Asthma, Tumoral calcinosis, Prostate cancer, Heart Diseases, PCOS, Gluocose Intolerance
Structural molecule activity
FGA Fibrinogen alpha chain Complement and coagulation cascades, Platelet activation, Platelet degranulation , Common Pathway of Fibrin Clot Formation, Integrin cell surface interactions, Integrin signaling, GRB2:SOS provides linkage to MAPK signaling for Integrins , p130Cas linkage to MAPK signaling for integrins, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), MAP2K and MAPK activation, Regulation of TLR by endogenous ligand, Signaling by moderate kinase activity BRAF mutants, Signaling by high-kinase activity BRAF mutants, Signaling by BRAF and RAF fusions, Paradoxical activation of RAF signaling by kinase inactive BRAF, Post-translational protein phosphorylation, Signaling downstream of RAS mutants, Amyloid fiber formation Fibrinogen Deficiency, Liver Diseases, Afibrinogenemia, Dysfibrinogenemia, Pulmonary thromboembolism, Stroke, Osteoporosis, Pulmonary Embolism, Mouth Neoplasms, Amyloidosis, Hepatitis, Cholestasis, Deep Vein Thrombosis, Thrombophilia, PCOS
Structural molecule activity
FGB Fibrinogen beta chain Complement and coagulation cascades, Platelet activation, Platelet degranulation , Common Pathway of Fibrin Clot Formation, Integrin cell surface interactions, Integrin signaling, GRB2:SOS provides linkage to MAPK signaling for Integrins , p130Cas linkage to MAPK signaling for integrins, MAP2K and MAPK activation, Regulation of TLR by endogenous ligand, Signaling by moderate kinase activity BRAF mutants, Signaling by high-kinase activity BRAF mutants, Signaling by BRAF and RAF fusions, Paradoxical activation of RAF signaling by kinase inactive BRAF, Signaling downstream of RAS mutants Osteoporosis, Dysfibrinogenemia, Fibrinogen Deficiency, Parkinson Disease, PCOS, Preeclampsia
Structural molecule activity
FGG Fibrinogen gamma chain Complement and coagulation cascades, Platelet activation, Staphylococcus aureus infection, Platelet degranulation , Common Pathway of Fibrin Clot Formation, Integrin cell surface interactions, Integrin signaling, GRB2:SOS provides linkage to MAPK signaling for Integrins , p130Cas linkage to MAPK signaling for integrins, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), MAP2K and MAPK activation, Regulation of TLR by endogenous ligand, Signaling by moderate kinase activity BRAF mutants, Signaling by high-kinase activity BRAF mutants, Signaling by BRAF and RAF fusions, Paradoxical activation of RAF signaling by kinase inactive BRAF, Post-translational protein phosphorylation, Signaling downstream of RAS mutants Dysfibrinogenemia, Stomach Cancer, Fibrinogen Deficiency, Gastric Cancer, Deep Vein Thrombosis, PCOS

| © 2019, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
Tel: 91-22-24192104, Fax No: 91-22-24139412