GO:0016020

Ontology term Gene (Gene Symbol) Gene Name Pathways Associated Diseases
Membrane
ACTB Actin beta Rap1 signaling pathway, Phagosome, Apoptosis, Hippo signaling pathway, Focal adhesion, Adherens junction, Tight junction, Platelet activation, Leukocyte transendothelial migration, Thermogenesis, Regulation of actin cytoskeleton, Thyroid hormone signaling pathway, Oxytocin signaling pathway, Gastric acid secretion, Bacterial invasion of epithelial cells, Vibrio cholerae infection, Pathogenic Escherichia coli infection, Shigellosis, Salmonella infection, Yersinia infection, Influenza A, Proteoglycans in cancer, Hepatocellular carcinoma, Hypertrophic cardiomyopathy (HCM), Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated cardiomyopathy (DCM), Viral myocarditis, Fluid shear stress and atherosclerosis, Gap junction degradation, Formation of annular gap junctions, Regulation of actin dynamics for phagocytic cup formation, EPHB-mediated forward signaling, EPH-ephrin mediated repulsion of cells, Adherens junctions interactions, Recycling pathway of L1, VEGFA-VEGFR2 Pathway, Interaction between L1 and Ankyrins, Cell-extracellular matrix interactions, B-WICH complex positively regulates rRNA expression, RHO GTPases activate IQGAPs, RHO GTPases Activate WASPs and WAVEs, RHO GTPases Activate Formins, MAP2K and MAPK activation, UCH proteinases, DNA Damage Recognition in GG-NER, 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, Clathrin-mediated endocytosis, Signaling downstream of RAS mutants, FCGR3A-mediated phagocytosis Arthritis, Osteoarthrosis Deformans, Dystonia, Bipolar Disorder, Baraitser-Winter syndrome, Genetic Diseases, Esophagus Neoplasm, Hearing Loss, Intellectual Disability, Lung Cancer, Liver Cancer, Anaplastic Carcinoma, Dysostoses, Anencephaly, Congenital ocular coloboma, Myocardial Ischemia, Drachtman Weinblatt Sitarz syndrome, Schizophrenia, Carcinoma, PCOS
Membrane
ACTG1 Actin gamma 1 Rap1 signaling pathway, Phagosome, Apoptosis, Hippo signaling pathway, Focal adhesion, Adherens junction, Tight junction, Platelet activation, Leukocyte transendothelial migration, Thermogenesis, Regulation of actin cytoskeleton, Thyroid hormone signaling pathway, Oxytocin signaling pathway, Bacterial invasion of epithelial cells, Vibrio cholerae infection, Pathogenic Escherichia coli infection, Shigellosis, Salmonella infection, Yersinia infection, Influenza A, Proteoglycans in cancer, Hepatocellular carcinoma, Hypertrophic cardiomyopathy (HCM), Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated cardiomyopathy (DCM), Viral myocarditis, Fluid shear stress and atherosclerosis, Gap junction degradation, Formation of annular gap junctions, Regulation of actin dynamics for phagocytic cup formation, EPHB-mediated forward signaling, EPH-ephrin mediated repulsion of cells, Adherens junctions interactions, Recycling pathway of L1, VEGFA-VEGFR2 Pathway, Interaction between L1 and Ankyrins, Cell-extracellular matrix interactions, RHO GTPases activate IQGAPs, RHO GTPases Activate WASPs and WAVEs, RHO GTPases Activate Formins, MAP2K and MAPK activation, 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, Clathrin-mediated endocytosis, Signaling downstream of RAS mutants, FCGR3A-mediated phagocytosis Drachtman Weinblatt Sitarz syndrome, Osteoporosis, Hearing Loss, Anencephaly, Carcinoma, Congenital ocular coloboma, Baraitser-Winter Syndrome, Anaplastic Carcinoma, Acute Coronary Syndrome, PCOS
Membrane
ADA Adenosine deaminase Purine metabolism, Metabolic pathways, Primary immunodeficiency, Purine salvage Autistic Disorder, SCID, ADA Deficiency, Pancreatic Ductal Adenocarcinoma, Lung Cancer, Hyperemia, Spinal Cord Diseases, PCOS
Membrane
ADRB2 Adrenoceptor beta 2 Calcium signaling pathway, cGMP-PKG signaling pathway, cAMP signaling pathway, Neuroactive ligand-receptor interaction, Adrenergic signaling in cardiomyocytes, Regulation of lipolysis in adipocytes, Renin secretion, Salivary secretion, Adrenoceptors, G alpha (s) signalling events, Ub-specific processing proteases, Cargo recognition for clathrin-mediated endocytosis, Clathrin-mediated endocytosis, ADORA2B mediated anti-inflammatory cytokines production Stomach Cancer, Autistic Disorder, HIV Encephalopathy, Myocardial Ischemia, Prostate cancer, Obesity, Gastric Cancer, Myocardial Diseases, AIDS Dementia Complex, Hyperlipidemia, Cardiomyopathy, HIV Infections, Viral Encephalitis, HIV Coinfection, Bipolar Disorder, PCOS, Obstructive Sleep Apnea, Preeclampsia
Membrane
ALOX15 Arachidonate 15-lipoxygenase Arachidonic acid metabolism, Linoleic acid metabolism, Metabolic pathways, Ferroptosis, Necroptosis, Serotonergic synapse, Synthesis of Leukotrienes (LT) and Eoxins (EX), Synthesis of 12-eicosatetraenoic acid derivatives, Synthesis of 15-eicosatetraenoic acid derivatives, Interleukin-4 and Interleukin-13 signaling, Biosynthesis of DHA-derived SPMs, Biosynthesis of protectins, Biosynthesis of E-series 18(S)-resolvins, Biosynthesis of E-series 18(R)-resolvins, Biosynthesis of DPAn-6 SPMs, Biosynthesis of DPAn-3-derived protectins and resolvins Esophagus Neoplasm, Hypertensive disease, Atherosclerosis, PCOS
Membrane
ANXA2 Annexin A2 Neutrophil degranulation, Dissolution of Fibrin Clot, Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation Liver Diseases, Osteoporosis, Lung Cancer, Liver Cancer, Carcinoma, Mouth Neoplasms, Leukemia, Hepatitis, Myeloid Leukemia, PCOS
Membrane
ANXA5 Annexin A5 Platelet degranulation Chronic Obstructive Pulmonary Disease, Wilson Disease, Stomach Cancer, Leukemia, Lung Cancer, Gastric Cancer, Mouth Neoplasms, Myeloid Leukemia, Carcinoma, PCOS
Membrane
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
Membrane
STS Steroid sulfatase Steroid hormone biosynthesis, Glycosphingolipid metabolism, The activation of arylsulfatases Ichthyosis, Hepatitis, Alcoholic, Fatty Liver, Minimal Brain Dysfunction, Obesity, Attention Deficit Disorder, Rheumatoid Arthritis, PCOS
Membrane
ATP5F1B ATP synthase F1 subunit beta Oxidative phosphorylation, Metabolic pathways, Thermogenesis, Alzheimer disease, Parkinson disease, Huntington disease, Mitochondrial protein import, Formation of ATP by chemiosmotic coupling, Transcriptional activation of mitochondrial biogenesis, Cristae formation Kidney Failure, Spinocerebellar ataxia, Kidney Insufficiency, PCOS
Membrane
BAX BCL2 associated X, apoptosis regulator EGFR tyrosine kinase inhibitor resistance, Endocrine resistance, Platinum drug resistance, Sphingolipid signaling pathway, p53 signaling pathway, Protein processing in endoplasmic reticulum, Apoptosis, Longevity regulating pathway, Apoptosis - multiple species, Necroptosis, Neurotrophin signaling pathway, Non-alcoholic fatty liver disease (NAFLD), AGE-RAGE signaling pathway in diabetic complications, Amyotrophic lateral sclerosis (ALS), Huntington disease, Prion diseases, Tuberculosis, Hepatitis C, Hepatitis B, Measles, Human cytomegalovirus infection, Influenza A, Human papillomavirus infection, Human T-cell leukemia virus 1 infection, Kaposi sarcoma-associated herpesvirus infection, Herpes simplex virus 1 infection, Epstein-Barr virus infection, Human immunodeficiency virus 1 infection, Pathways in cancer, Transcriptional misregulation in cancer, Viral carcinogenesis, Colorectal cancer, Pancreatic cancer, Endometrial cancer, Glioma, Thyroid cancer, Basal cell carcinoma, Melanoma, Chronic myeloid leukemia, Small cell lung cancer, Non-small cell lung cancer, Breast cancer, Hepatocellular carcinoma, Gastric cancer, Release of apoptotic factors from the mitochondria, Activation, translocation and oligomerization of BAX, TP53 Regulates Transcription of Genes Involved in Cytochrome C Release, TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest, Transcriptional regulation by RUNX2 Esophagus Neoplasm, Kidney Insufficiency, Colonic Neoplasms, Myocardial Infarction, Lymphoma, Intestinal Cancer, HIV Infections, Breast Cancer, Liver Diseases, Alzheimer Disease, Ovarian Cancer, HIV Coinfection, Hepatitis, Senile Dementia, Male infertility, Kidney Failure, Prostate cancer, PCOS, Vulvar Cancer, Preeclampsia
Membrane
CALR Calreticulin Protein processing in endoplasmic reticulum, Phagosome, Antigen processing and presentation, Chagas disease (American trypanosomiasis), Human cytomegalovirus infection, Human T-cell leukemia virus 1 infection, Herpes simplex virus 1 infection, Epstein-Barr virus infection, Human immunodeficiency virus 1 infection, ER-Phagosome pathway, Assembly of Viral Components at the Budding Site, Scavenging by Class A Receptors, Scavenging by Class F Receptors, ATF6 (ATF6-alpha) activates chaperone genes, Calnexin/calreticulin cycle, Antigen Presentation: Folding, assembly and peptide loading of class I MHC Colorectal Cancer, Anemia, Schizophrenia, Shared Paranoid Disorder, Non-organic psychosis, Esophagus Neoplasm, Psychosis, Prostate cancer, Myocardial Ischemia, Schizoaffective Disorder, Bipolar Disorder, PCOS
Membrane
CD36 CD36 molecule PPAR signaling pathway, Phagosome, AMPK signaling pathway, ECM-receptor interaction, Hematopoietic cell lineage, Adipocytokine signaling pathway, Insulin resistance, Fat digestion and absorption, Cholesterol metabolism, Malaria, Platelet degranulation , Cross-presentation of particulate exogenous antigens (phagosomes), ER-Phagosome pathway, MyD88:MAL(TIRAP) cascade initiated on plasma membrane, Toll Like Receptor TLR6:TLR2 Cascade, PPARA activates gene expression, Scavenging by Class B Receptors, Transcriptional regulation of white adipocyte differentiation, Intracellular metabolism of fatty acids regulates insulin secretion, MyD88 deficiency (TLR2/4), IRAK4 deficiency (TLR2/4), Regulation of TLR by endogenous ligand, Interleukin-4 and Interleukin-13 signaling, Neutrophil degranulation Immunologic Deficiency Syndromes, Platelet Glycoprotein IV Deficiency, Hypertensive disease, Cardiomyopathy, Antibody Deficiency Syndrome, Dermatitis, Myocardial Ischemia, PCOS
Membrane
CD74 CD74 molecule Antigen processing and presentation, Tuberculosis, Herpes simplex virus 1 infection, Cell surface interactions at the vascular wall, MHC class II antigen presentation Liver Failure, Lung Cancer, Breast Cancer, PCOS
Membrane
CFL1 Cofilin 1 Axon guidance, Fc gamma R-mediated phagocytosis, Regulation of actin cytoskeleton, Pertussis, Human immunodeficiency virus 1 infection, Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation Breast Cancer, Status Dysraphicus, Spina Bifida, Esophagus Neoplasm, PCOS
Membrane
COMT Catechol-O-methyltransferase Steroid hormone biosynthesis, Tyrosine metabolism, Metabolic pathways, Dopaminergic synapse, Methylation, Enzymatic degradation of dopamine by COMT, Enzymatic degradation of Dopamine by monoamine oxidase Mental Depression, Breast Cancer, Attention Deficit Disorder, Mental disorders, Memory Disorders, Bipolar Disorder, Mood Disorders, Conotruncal Anomaly Face Syndrome, Minimal Brain Dysfunction, Schizophrenia, Drug induced paranoia, Psychosis, Temporomandibular Joint Disorders, Liver Cancer, Manic Disorder, Shprintzen syndrome, Pheochromocytoma, Prostate cancer, Autistic Disorder, DiGeorge Syndrome, Behavior Disorders, Anhedonia, Cognition Disorders, Diagnosis, Psychiatric, PCOS, Eating Disorders
Membrane
CPT1A Carnitine palmitoyltransferase 1A Fatty acid degradation, Fatty acid metabolism, PPAR signaling pathway, AMPK signaling pathway, Thermogenesis, Adipocytokine signaling pathway, Glucagon signaling pathway, Insulin resistance, RORA activates gene expression, PPARA activates gene expression, Carnitine metabolism, Signaling by Retinoic Acid Diabetes Mellitus , Carnitine Palmitoyltransferase Deficiency, Breast Cancer, Kidney Failure, PCOS
Membrane
CYP19A1 Cytochrome P450 family 19 subfamily A member 1 Steroid hormone biosynthesis, Metabolic pathways, Ovarian steroidogenesis, Estrogen biosynthesis, Endogenous sterols, Defective CYP19A1 causes Aromatase excess syndrome (AEXS) Breast Cancer, Ovarian Cancer, Prostate cancer, Endometrioma, Cribriform Carcinoma, Hypopituitarism, Aromatase deficiency, Sexual Infantilism, Hypogonadism, Genital Infantilism, Osteoporosis, Subfertility, Female, Fatty Liver, Endometriosis, Endometrial Cancer, Adenocarcinoma, Esophagus Neoplasm, Ovarian Diseases, Autistic Disorder, Carcinoma, PCOS
Membrane
DPP4 Dipeptidyl peptidase 4 Protein digestion and absorption, Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1), Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) Mental Depression, Rheumatoid Arthritis, PCOS
Membrane
EGFR Epidermal growth factor receptor EGFR tyrosine kinase inhibitor resistance, Endocrine resistance, MAPK signaling pathway, ErbB signaling pathway, Ras signaling pathway, Rap1 signaling pathway, Calcium signaling pathway, HIF-1 signaling pathway, FoxO signaling pathway, Phospholipase D signaling pathway, Endocytosis, PI3K-Akt signaling pathway, Focal adhesion, Adherens junction, Gap junction, JAK-STAT signaling pathway, Regulation of actin cytoskeleton, GnRH signaling pathway, Estrogen signaling pathway, Oxytocin signaling pathway, Relaxin signaling pathway, Parathyroid hormone synthesis, secretion and action, Cushing syndrome, Epithelial cell signaling in Helicobacter pylori infection, Hepatitis C, Human cytomegalovirus infection, Human papillomavirus infection, Pathways in cancer, Proteoglycans in cancer, MicroRNAs in cancer, Colorectal cancer, Pancreatic cancer, Endometrial cancer, Glioma, Prostate cancer, Melanoma, Bladder cancer, Non-small cell lung cancer, Breast cancer, Hepatocellular carcinoma, Gastric cancer, Central carbon metabolism in cancer, Choline metabolism in cancer, PD-L1 expression and PD-1 checkpoint pathway in cancer, Signaling by ERBB2, Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants, Signaling by ERBB4, SHC1 events in ERBB2 signaling, PIP3 activates AKT signaling, Signaling by EGFR, GRB2 events in EGFR signaling, GAB1 signalosome, SHC1 events in EGFR signaling, EGFR downregulation, PI3K events in ERBB2 signaling, EGFR interacts with phospholipase C-gamma, EGFR Transactivation by Gastrin, Constitutive Signaling by Aberrant PI3K in Cancer, Signal transduction by L1, Constitutive Signaling by EGFRvIII, Inhibition of Signaling by Overexpressed EGFR, RAF/MAP kinase cascade, ERBB2 Regulates Cell Motility, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, ERBB2 Activates PTK6 Signaling, Cargo recognition for clathrin-mediated endocytosis, Clathrin-mediated endocytosis, PTK6 promotes HIF1A stabilization, Downregulation of ERBB2 signaling, TFAP2 (AP-2) family regulates transcription of growth factors and their receptors, Extra-nuclear estrogen signaling, NOTCH3 Activation and Transmission of Signal to the Nucleus, HCMV Early Events, Estrogen-dependent nuclear events downstream of ESR-membrane signaling, Signaling by ERBB2 KD Mutants, Signaling by ERBB2 ECD mutants, Signaling by ERBB2 TMD/JMD mutants Lung Cancer, Head Neoplasms, Adenocarcinoma, Breast Cancer, Ovarian Cancer, Prostate cancer, Central Nervous System Neoplasms, Cervical Cancer, Head and Neck Neoplasms, Stomach Cancer, Chloracne, Digestive Track Neoplasms, Glioblastoma, Kidney Failure, Carcinoma, Glioblastoma Multiforme, Intestinal Polyposis, Bipolar Disorder, Brain Neoplasms, Rectal Neoplasms, Esophagus Neoplasm, Papilloma, Colorectal Cancer, Cribriform Carcinoma, Mental Depression, Pancreatic Neoplasm, Endometrial Cancer, Inflammatory Skin And Bowel Disease, Cholangiocarcinoma, Endometriosis, Cardiomyopathy, Colonic Neoplasms, Kidney Insufficiency, Gall Bladder Cancer, Nasopharyngeal Cancer, Endometrioma, Brain Stem Glioma, Polycystic Kidney Diseases, Dermatitis, Neck Neoplasms, Lipoma, Gastric Cancer, Liver Cancer, Bile Duct Cancer, Diabetes Mellitus , Adrenal Cancer, Bladder Cancer, Mesothelioma, Osteosarcoma, Intrahepatic Cholangiocarcinoma, Arteriovenous Malformations, Cerebral, Extrahepatic Cholangiocarcinoma, Anaplastic Carcinoma, PCOS, Vulvar Cancer, Preeclampsia
Membrane
ESR1 Estrogen receptor 1 Endocrine resistance, Estrogen signaling pathway, Prolactin signaling pathway, Thyroid hormone signaling pathway, Endocrine and other factor-regulated calcium reabsorption, Pathways in cancer, Proteoglycans in cancer, Breast cancer, Nuclear signaling by ERBB4, PIP3 activates AKT signaling, Constitutive Signaling by Aberrant PI3K in Cancer, Nuclear Receptor transcription pathway, SUMOylation of intracellular receptors, Ovarian tumor domain proteases, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, TFAP2 (AP-2) family regulates transcription of growth factors and their receptors, RUNX1 regulates estrogen receptor mediated transcription, ESR-mediated signaling, RUNX1 regulates transcription of genes involved in WNT signaling, Regulation of RUNX2 expression and activity, Extra-nuclear estrogen signaling, Estrogen-dependent gene expression Liver Cancer, Breast Cancer, Oligospermia, Mesothelioma, Lung Cancer, Male infertility, Mood Disorders, Myocardial Infarction, Migraine, Estrogen Resistance, Intracranial Astrocytoma, Prostate cancer, Schizophrenia, Uterine Fibroids, Mental Depression, Bone Diseases, Bipolar Disorder, Meniere Disease, Grade I Astrocytoma, Childhood Cerebral Astrocytoma, Adenocarcinoma, Fibroid Tumor, Shared Paranoid Disorder, Astrocytoma, Neuroblastoma, Endometrial Cancer, Subfertility, Female, Cerebral Astrocytoma, Bladder Cancer, Endometriosis, Alzheimer Disease, Atherosclerosis, Female Urogenital Diseases, Nephritis, Sick Headaches, Arteriosclerosis, Carcinoma, Osteopenia, Obesity, Leukemia, Anaplastic Carcinoma, Senile Dementia, Oligoastrocytoma, Prostatic Intraepithelial Neoplasias, Metabolic Bone Disorder, Cribriform Carcinoma, Glomerulonephritis, PCOS, Vulvar Cancer, Preeclampsia
Membrane
F5 Coagulation factor V Complement and coagulation cascades, Platelet degranulation , Common Pathway of Fibrin Clot Formation, COPII-mediated vesicle transport, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), Cargo concentration in the ER, Post-translational protein phosphorylation Blood Coagulation Disorders, Cerebral Ischemia, Deep Vein Thrombosis, Thrombophilia, Liver Fibrosis, Acute Mesenteric Arterial Thrombosis, Pulmonary Embolism, Stroke, Colonic Neoplasms, Sinus Thrombophlebitis, Activated Protein C Resistance, Factor V Deficiency, Mesenteric ischemia, Intestinal Polyposis, Inflammatory Bowel Diseases, Retinal Vein Thrombosis, Retinal Vein Occlusion, Liver Cirrhosis, Myocardial Infarction, Sinus Thrombosis, PCOS, Preeclampsia
Membrane
FASN Fatty acid synthase Fatty acid biosynthesis, Metabolic pathways, Fatty acid metabolism, AMPK signaling pathway, Insulin signaling pathway, ChREBP activates metabolic gene expression, Vitamin B5 (pantothenate) metabolism, Activation of gene expression by SREBF (SREBP), Fatty acyl-CoA biosynthesis, NR1H2 & NR1H3 regulate gene expression linked to lipogenesis PCOS, Prostate cancer, Gastric Cancer, Liver Cancer, Breast Cancer, Lung Cancer, Uterine Fibroids, Hyperglycemia, Colorectal Cancer, Pancreatic Neoplasm, Skin Cancer, Carcinoma, Liver Diseases, Glioma, Bladder Cancer, Glioblastoma, PINK1 deficiency, Neoplasms, Osteosarcoma, Colonic Neoplasms, Fatty Liver, Myocardial Failure, Leukemia, Hypertensive disease, Sickle Cell Anemia, Metabolic Diseases, Ovarian Cancer, Atherosclerosis, HIV Infections, Dyslipidemias, Thyroid Diseases, Endometrial Cancer, Thyroid Cancer, Obesity, Lipid Metabolism Disorders, Squamous Cell Carcinoma, Retinoblastoma, Intraepithelial Neoplasia, Metabolic Syndrome X, Lymphoma, Prostate Carcinoma, Kidney Failure, Alcoholic fatty liver, Hepatitis, Nose Cancer, Acute Coronary Syndrome, Diabetes Mellitus, Sarcoma, Mental Depression, Myopathy, Non-alcoholic Fatty Liver Disease
Membrane
FLNA Filamin A MAPK signaling pathway, Focal adhesion, Salmonella infection, Proteoglycans in cancer, Platelet degranulation , GP1b-IX-V activation signalling, Cell-extracellular matrix interactions, RHO GTPases activate PAKs, OAS antiviral response Cardiac Valvular Dysplasia, Marfan Syndrome, Van Buchem disease, Otopalatodigital Syndrome, FG syndrome, Skeletal Dysplasia, Heterotopia, Frontometaphyseal dysplasia, Short Bowel Syndrome, Breast Cancer, Intestinal Pseudoobstruction, Schwartz-Jampel Syndrome, Hearing Loss, Malignant Cystosarcoma Phyllodes, Epilepsy, Melnick-Needles Syndrome, Phyllodes Tumor, PCOS
Membrane
FMR1 FMRP translational regulator 1 RNA transport Congenital Abnormality, Autistic Disorder, Fragile X Syndrome, Ovarian Failure, Anxiety Disorders, Mental Depression, Schizophrenia, Bipolar Disorder, Intellectual Disability, Cognition Disorders, Gonadal Agenesis, Mood Disorders, PCOS
Membrane
GNRHR Gonadotropin releasing hormone receptor Neuroactive ligand-receptor interaction, GnRH signaling pathway, Hormone ligand-binding receptors, G alpha (q) signalling events Hypogonadism, Adrenal Cancer, PCOS, Precocious Puberty
Membrane
GZMB Granzyme B Apoptosis, Natural killer cell mediated cytotoxicity, Type I diabetes mellitus, Transcriptional misregulation in cancer, Autoimmune thyroid disease, Allograft rejection, Graft-versus-host disease, Activation, myristolyation of BID and translocation to mitochondria Vitiligo, Hepatitis, Breast Cancer, Autistic Disorder, PCOS
Membrane
HLA-DQA1 Major histocompatibility complex, class II, DQ alpha 1 Phagosome, Cell adhesion molecules (CAMs), Antigen processing and presentation, Hematopoietic cell lineage, Th1 and Th2 cell differentiation, Th17 cell differentiation, Intestinal immune network for IgA production, Type I diabetes mellitus, Leishmaniasis, Toxoplasmosis, Staphylococcus aureus infection, Tuberculosis, Influenza A, Human T-cell leukemia virus 1 infection, Herpes simplex virus 1 infection, Epstein-Barr virus infection, Asthma, Autoimmune thyroid disease, Inflammatory bowel disease (IBD), Systemic lupus erythematosus, Rheumatoid arthritis, Allograft rejection, Graft-versus-host disease, Viral myocarditis, Downstream TCR signaling, Phosphorylation of CD3 and TCR zeta chains, Translocation of ZAP-70 to Immunological synapse, Generation of second messenger molecules, MHC class II antigen presentation, PD-1 signaling, Interferon gamma signaling Lung Cancer, Carcinoma, Diabetes Mellitus , Oropharyngeal Cancer, Glomerulonephritis, Rheumatoid Arthritis, Autoimmune Diabetes, Autoimmune Hepatitis, Asthma, Pancreatitis, Celiac Disease, Sarcoidosis, Narcolepsy, Eosinophilia-Myalgia Syndrome, Schizophrenia, Lupus Erythematosus, Inflammatory Bowel Diseases, Megaesophagus, Libman-Sacks Disease, Meniere Disease, Ketosis-prone diabetes, Leukemia, Liver Cancer, Multiple Sclerosis, Dermatitis, Vitiligo, Esophageal Achalasia, Brittle diabetes, PCOS, Preeclampsia
Membrane
HLA-DRB1 Major histocompatibility complex, class II, DR beta 1 Phagosome, Cell adhesion molecules (CAMs), Antigen processing and presentation, Hematopoietic cell lineage, Th1 and Th2 cell differentiation, Th17 cell differentiation, Intestinal immune network for IgA production, Type I diabetes mellitus, Leishmaniasis, Toxoplasmosis, Staphylococcus aureus infection, Tuberculosis, Influenza A, Human T-cell leukemia virus 1 infection, Herpes simplex virus 1 infection, Epstein-Barr virus infection, Asthma, Autoimmune thyroid disease, Inflammatory bowel disease (IBD), Systemic lupus erythematosus, Rheumatoid arthritis, Allograft rejection, Graft-versus-host disease, Viral myocarditis, Downstream TCR signaling, Phosphorylation of CD3 and TCR zeta chains, Translocation of ZAP-70 to Immunological synapse, Generation of second messenger molecules, MHC class II antigen presentation, PD-1 signaling, Interferon gamma signaling Eosinophilia-Myalgia Syndrome, Lymphoma, Sarcoidosis, Ketosis-prone diabetes, Multiple Sclerosis, Meniere Disease, Liver Diseases, Autistic Disorder, Colitis, Rheumatoid Arthritis, Cerebrovascular Disorders, Narcolepsy, Schizophrenia, Brittle diabetes, Oropharyngeal Cancer, Glomerulonephritis, Autoimmune Diabetes, Diabetes Mellitus , Bipolar Disorder, Nephrotic Syndrome, Hepatitis, Asthma, Reticulosarcoma, Pancreatitis, Crohn Disease, Urticaria, Beryllium Disease, Lupus Erythematosus, Libman-Sacks Disease, Enteritis, PCOS, Vulvar Cancer, Obstructive Sleep Apnea, Preeclampsia
Membrane
HMOX1 Heme oxygenase 1 Porphyrin and chlorophyll metabolism, Metabolic pathways, HIF-1 signaling pathway, Ferroptosis, Mineral absorption, Pathways in cancer, MicroRNAs in cancer, Hepatocellular carcinoma, Fluid shear stress and atherosclerosis, Heme degradation, Interleukin-4 and Interleukin-13 signaling, Iron uptake and transport, Insertion of tail-anchored proteins into the endoplasmic reticulum membrane Degenerative Diseases Central Nervous System, Alzheimer Disease, Diabetes Mellitus , Pneumonia, Obesity, Status Epilepticus, Retinal Diseases, Dermatitis, Gastric Cancer, Stomach Cancer, Carotid Atherosclerosis, Hypertensive disease, Liver Diseases, Prostate cancer, Hepatorenal Syndrome, Hyperinsulinism, Gastroparesis, Asthma, Lung Cancer, Learning Disorders, Heart Failure, Senile Dementia, Pulmonary Emphysema, Colitis, Breast Cancer, Pulmonary Fibrosis, Petit mal status, Anemia, Emphysema, Kidney Failure, Diabetic Cardiomyopathies, Myocardial Ischemia, Liver Cancer, Carotid Artery Diseases, Moyamoya disease, Spinocerebellar ataxia, Kidney Insufficiency, Arteriosclerosis, Pancreatic Diseases, Schizophrenia, Hepatitis, Parkinson Disease, Chronic Lung Injury, Myocardial Failure, Iron Metabolism Disorders, Adrenoleukodystrophy, Mastocytosis, Blood Coagulation Disorders, Adrenomyeloneuropathy, PCOS, Obstructive Sleep Apnea, Gluocose Intolerance, Preeclampsia
Membrane
HSD11B1 Hydroxysteroid 11-beta dehydrogenase 1 Steroid hormone biosynthesis, Metabolism of xenobiotics by cytochrome P450, Metabolic pathways, Chemical carcinogenesis, Glucocorticoid biosynthesis Hyperglycemia, Obesity, Cortisone reductase deficiency, Hypertensive disease, Dermatitis, Mental Depression, Rheumatoid Arthritis, PCOS
Membrane
HSPA5 Heat shock protein family A (Hsp70) member 5 Protein export, Protein processing in endoplasmic reticulum, Antigen processing and presentation, Thyroid hormone synthesis, Prion diseases, Regulation of HSF1-mediated heat shock response, ATF6 (ATF6-alpha) activates chaperones, PERK regulates gene expression, IRE1alpha activates chaperones, ATF6 (ATF6-alpha) activates chaperone genes, Antigen Presentation: Folding, assembly and peptide loading of class I MHC Obesity, Pulmonary asbestosis, Esophagus Neoplasm, Hematopoietic Neoplasms, Myeloid Leukemia, Myocardial Infarction, Spinocerebellar ataxia, Bipolar Disorder, Pulmonary Fibrosis, Hematologic Neoplasms, Liver Cancer, PCOS
Membrane
HSPE1 Heat shock protein family E (Hsp10) member 1 Cardiomyopathy, Myocardial Diseases, PCOS
Membrane
ICAM1 Intercellular adhesion molecule 1 NF-kappa B signaling pathway, Cell adhesion molecules (CAMs), Natural killer cell mediated cytotoxicity, TNF signaling pathway, Leukocyte transendothelial migration, AGE-RAGE signaling pathway in diabetic complications, African trypanosomiasis, Malaria, Staphylococcus aureus infection, Influenza A, Human T-cell leukemia virus 1 infection, Kaposi sarcoma-associated herpesvirus infection, Epstein-Barr virus infection, Rheumatoid arthritis, Viral myocarditis, Fluid shear stress and atherosclerosis, Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, Integrin cell surface interactions, Interleukin-10 signaling, Interleukin-4 and Interleukin-13 signaling, Interferon gamma signaling Bronchiectasis, Cerebral Ischemia, Nephrosis, Colonic Neoplasms, Retinal Diseases, Cerebral Artery Infarction, Pleuritis, Multiple Sclerosis, Middle Cerebral Artery Syndrome, Diabetes Mellitus , Leukostasis, Neuropathy, Mouth Neoplasms, Atherosclerosis, Myocardial Infarction, Cerebral Thrombosis, Inflammatory Bowel Diseases, Colitis, Hypertensive disease, Urticaria, Myocardial Ischemia, Bronchial hyperreactivity, Asthma, Meniere Disease, Diabetic Retinopathy, Prostate cancer, Brain Infarction, Schizophrenia, Stroke, Hypercholesterolemia, Uremia, Behcet Syndrome, Obesity, Cholestasis, PCOS, Obstructive Sleep Apnea, Preeclampsia
Membrane
IGF1R Insulin like growth factor 1 receptor EGFR tyrosine kinase inhibitor resistance, Endocrine resistance, MAPK signaling pathway, Ras signaling pathway, Rap1 signaling pathway, HIF-1 signaling pathway, FoxO signaling pathway, Oocyte meiosis, Autophagy - animal, Endocytosis, mTOR signaling pathway, PI3K-Akt signaling pathway, AMPK signaling pathway, Longevity regulating pathway, Longevity regulating pathway - multiple species, Focal adhesion, Adherens junction, Signaling pathways regulating pluripotency of stem cells, Long-term depression, Ovarian steroidogenesis, Progesterone-mediated oocyte maturation, Pathways in cancer, Transcriptional misregulation in cancer, Proteoglycans in cancer, Glioma, Prostate cancer, Melanoma, Breast cancer, Hepatocellular carcinoma, Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), IRS-related events triggered by IGF1R, SHC-related events triggered by IGF1R, Extra-nuclear estrogen signaling Congenital diaphragmatic hernia, Breast Cancer, Juvenile arthritis, Endometriosis, Skin Cancer, Neuropathy, Microcephaly, Liver Cancer, Russell-Silver syndrome, Resistance to Insulin-Like Growth Factor I, Lewy Body Disease, Senile Dementia, Endometrial Cancer, Respiratory Failure, Still Disease, Alzheimer Disease, Adrenal Cancer, Parkinson Disease, PCOS, Preeclampsia
Membrane
IGF2R Insulin like growth factor 2 receptor Lysosome, Endocytosis, Golgi Associated Vesicle Biogenesis, Neutrophil degranulation, Retrograde transport at the Trans-Golgi-Network, Cargo recognition for clathrin-mediated endocytosis, Clathrin-mediated endocytosis Lewy Body Disease, Alzheimer Disease, Congenital diaphragmatic hernia, Prostate cancer, Liver Cancer, Senile Dementia, Parkinson Disease, Arteriosclerosis, PCOS
Membrane
IL6ST Interleukin 6 signal transducer Cytokine-cytokine receptor interaction, Viral protein interaction with cytokine and cytokine receptor, Signaling pathways regulating pluripotency of stem cells, JAK-STAT signaling pathway, Th17 cell differentiation, Kaposi sarcoma-associated herpesvirus infection, Pathways in cancer, Viral carcinogenesis, Interleukin-6 signaling, MAPK3 (ERK1) activation, MAPK1 (ERK2) activation, IL-6-type cytokine receptor ligand interactions, Interleukin-35 Signalling, Interleukin-27 signaling Pneumonia, Middle Cerebral Artery Syndrome, Cerebral Artery Infarction, Prostate cancer, Carcinoma, Ovarian Cancer, Colorectal Cancer, Rheumatoid Arthritis, Cerebral Thrombosis, Brain Infarction, Anaplastic Carcinoma, Myocardial Ischemia, PCOS, Gluocose Intolerance
Membrane
INSR Insulin receptor MAPK signaling pathway, Ras signaling pathway, Rap1 signaling pathway, cGMP-PKG signaling pathway, HIF-1 signaling pathway, FoxO signaling pathway, Phospholipase D signaling pathway, mTOR signaling pathway, PI3K-Akt signaling pathway, AMPK signaling pathway, Longevity regulating pathway, Longevity regulating pathway - multiple species, Adherens junction, Insulin signaling pathway, Ovarian steroidogenesis, Regulation of lipolysis in adipocytes, Type II diabetes mellitus, Insulin resistance, Non-alcoholic fatty liver disease (NAFLD), Aldosterone-regulated sodium reabsorption, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, IRS activation, Signal attenuation, Insulin receptor signalling cascade, Signaling by Insulin receptor, Insulin receptor recycling Hyperinsulinism, Congenital diaphragmatic hernia, Insulin Resistance Syndrome, Diabetes Mellitus and Acanthosis, Diabetes Mellitus , Diabetic Neuralgia, Hypothyroidism, Parkinson Disease, Alzheimer Disease, Senile Dementia, Diabetic Neuropathies, Lewy Body Disease, Hyperglycemia, Renal Cancer, PCOS
Membrane
LDLR Low density lipoprotein receptor Endocytosis, Ovarian steroidogenesis, Aldosterone synthesis and secretion, Cortisol synthesis and secretion, Cushing syndrome, Bile secretion, Cholesterol metabolism, Toxoplasmosis, Hepatitis C, Cargo recognition for clathrin-mediated endocytosis, Clathrin-mediated endocytosis, Chylomicron clearance, LDL clearance Hypercholesterolemia, Ischemic Cardiomyopathy, Hyperlipoproteinemia, Aortic Aneurysm, Genetic Diseases, Arteriosclerosis, Fatty Liver, Atherosclerosis, Dyslipidemias, Non-alcoholic Fatty Liver Disease, Coronary heart disease, Lateral Sclerosis, Hyperlipidemia, Obesity, Lung Cancer, Pyloric Stenosis, Myocardial Infarction, PCOS
Membrane
FADS1 Fatty acid desaturase 1 Biosynthesis of unsaturated fatty acids, Metabolic pathways, Fatty acid metabolism, PPARA activates gene expression, Linoleic acid (LA) metabolism, alpha-linolenic acid (ALA) metabolism Schizophrenia, Diabetes Mellitus , Colorectal Cancer, Liver Diseases, Stomach Cancer, Squamous Cell Carcinoma, Hepatitis, Gastric Cancer, Coronary heart disease, Heart Failure, Atrial Fibrillation, Stroke, Adenocarcinoma Of Large Intestine, Lung Cancer, PCOS
Membrane
LY6E Lymphocyte antigen 6 family member E Post-translational modification: synthesis of GPI-anchored proteins PCOS, Gastric Cancer, Breast Cancer, Transient Ischemic Attack, Neoplasms, Systemic Lupus Erythematosus, Genitourinary Cancer, Respiratory Distress Syndrome, Esophagus Neoplasm, Lupus Erythematosus, Multiple Sclerosis, Lung Cancer, Rheumatoid Arthritis
Membrane
MYH9 Myosin heavy chain 9 Tight junction, Regulation of actin cytoskeleton, Salmonella infection, Regulation of actin dynamics for phagocytic cup formation, RHO GTPases activate PAKs, CD163 mediating an anti-inflammatory response, FCGR3A-mediated phagocytosis Deafness, Hematuria, Glomerular Hyalinosis, Breast Cancer, Nephritis, Alport Syndrome, Sebastian Syndrome, Thrombocytopenia, Kidney Failure, Glomerulosclerosis, Macrothrombocytopenia And Progressive Sensorineural Deafness, Schizophrenia, Renal hypertension, Diabetic Nephropathy, Lobular Cancer, PCOS
Membrane
PDE3B Phosphodiesterase 3B Purine metabolism, Metabolic pathways, cGMP-PKG signaling pathway, cAMP signaling pathway, Apelin signaling pathway, Insulin signaling pathway, Progesterone-mediated oocyte maturation, Glucagon signaling pathway, Regulation of lipolysis in adipocytes, Renin secretion, Morphine addiction, PDE3B signalling, G alpha (s) signalling events Ovarian Cancer, PCOS
Membrane
PDGFRA Platelet derived growth factor receptor alpha EGFR tyrosine kinase inhibitor resistance, MAPK signaling pathway, Ras signaling pathway, Rap1 signaling pathway, Calcium signaling pathway, Phospholipase D signaling pathway, Endocytosis, PI3K-Akt signaling pathway, Focal adhesion, Gap junction, JAK-STAT signaling pathway, Regulation of actin cytoskeleton, Human cytomegalovirus infection, Pathways in cancer, MicroRNAs in cancer, Glioma, Prostate cancer, Melanoma, Central carbon metabolism in cancer, Choline metabolism in cancer, PIP3 activates AKT signaling, Downstream signal transduction, Signaling by PDGF, Constitutive Signaling by Aberrant PI3K in Cancer, RAF/MAP kinase cascade, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants, Signaling by PDGFRA extracellular domain mutants, Imatinib-resistant PDGFR mutants, Sunitinib-resistant PDGFR mutants, Regorafenib-resistant PDGFR mutants, Sorafenib-resistant PDGFR mutants, PDGFR mutants bind TKIs Gastrointestinal Cancer, Hypereosinophilic syndrome, Chondrosarcoma, Sarcoma, Medulloblastoma, Anemia, Spina Bifida, Cleft palate, Leukemia, Status Dysraphicus, Astigmatism, Congenital abnormality of respiratory system, Fetal Alcohol Syndrome, Cancer Metastasis, PCOS, Preeclampsia
Membrane
PIK3CA Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Inositol phosphate metabolism, Metabolic pathways, EGFR tyrosine kinase inhibitor resistance, Endocrine resistance, Platinum drug resistance, ErbB signaling pathway, Ras signaling pathway, Rap1 signaling pathway, cAMP signaling pathway, Chemokine signaling pathway, HIF-1 signaling pathway, FoxO signaling pathway, Phosphatidylinositol signaling system, Sphingolipid signaling pathway, Phospholipase D signaling pathway, Autophagy - animal, mTOR signaling pathway, PI3K-Akt signaling pathway, AMPK signaling pathway, Apoptosis, Longevity regulating pathway, Longevity regulating pathway - multiple species, Cellular senescence, Axon guidance, VEGF signaling pathway, Osteoclast differentiation, Focal adhesion, Signaling pathways regulating pluripotency of stem cells, Platelet activation, Toll-like receptor signaling pathway, C-type lectin receptor signaling pathway, JAK-STAT signaling pathway, Natural killer cell mediated cytotoxicity, T cell receptor signaling pathway, B cell receptor signaling pathway, Fc epsilon RI signaling pathway, Fc gamma R-mediated phagocytosis, TNF signaling pathway, Leukocyte transendothelial migration, Neurotrophin signaling pathway, Cholinergic synapse, Inflammatory mediator regulation of TRP channels, Regulation of actin cytoskeleton, Insulin signaling pathway, Progesterone-mediated oocyte maturation, Estrogen signaling pathway, Prolactin signaling pathway, Thyroid hormone signaling pathway, Regulation of lipolysis in adipocytes, Relaxin signaling pathway, Type II diabetes mellitus, Insulin resistance, Non-alcoholic fatty liver disease (NAFLD), AGE-RAGE signaling pathway in diabetic complications, Aldosterone-regulated sodium reabsorption, Carbohydrate digestion and absorption, Bacterial invasion of epithelial cells, Yersinia infection, Chagas disease (American trypanosomiasis), Amoebiasis, Hepatitis C, Hepatitis B, Measles, Human cytomegalovirus infection, Influenza A, Human papillomavirus infection, Human T-cell leukemia virus 1 infection, Kaposi sarcoma-associated herpesvirus infection, Herpes simplex virus 1 infection, Epstein-Barr virus infection, Human immunodeficiency virus 1 infection, Pathways in cancer, Viral carcinogenesis, Proteoglycans in cancer, MicroRNAs in cancer, Colorectal cancer, Renal cell carcinoma, Pancreatic cancer, Endometrial cancer, Glioma, Prostate cancer, Melanoma, Chronic myeloid leukemia, Acute myeloid leukemia, Small cell lung cancer, Non-small cell lung cancer, Breast cancer, Hepatocellular carcinoma, Gastric cancer, Central carbon metabolism in cancer, Choline metabolism in cancer, PD-L1 expression and PD-1 checkpoint pathway in cancer, Fluid shear stress and atherosclerosis, PI3K Cascade, IRS-mediated signalling, GPVI-mediated activation cascade, Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants, PI3K events in ERBB4 signaling, PIP3 activates AKT signaling, Signaling by SCF-KIT, Synthesis of PIPs at the plasma membrane, GAB1 signalosome, Signaling by cytosolic FGFR1 fusion mutants, Downstream signal transduction, PI3K events in ERBB2 signaling, PI3K/AKT activation, Downstream TCR signaling, Role of phospholipids in phagocytosis, Tie2 Signaling, Constitutive Signaling by Aberrant PI3K in Cancer, DAP12 signaling, Role of LAT2/NTAL/LAB on calcium mobilization, Costimulation by the CD28 family, CD28 dependent PI3K/Akt signaling, G alpha (q) signalling events, VEGFA-VEGFR2 Pathway, Interleukin-3, Interleukin-5 and GM-CSF signaling, Constitutive Signaling by EGFRvIII, PI-3K cascade:FGFR1, PI-3K cascade:FGFR2, PI-3K cascade:FGFR3, PI-3K cascade:FGFR4, Signaling by FGFR2 in disease, Signaling by FGFR4 in disease, Signaling by FGFR1 in disease, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, MET activates PI3K/AKT signaling, Signaling by FGFR3 fusions in cancer, Signaling by FGFR3 point mutants in cancer, RET signaling, Extra-nuclear estrogen signaling, Erythropoietin activates Phosphoinositide-3-kinase (PI3K), Interleukin receptor SHC signaling, Regulation of signaling by CBL, Signaling by ERBB2 KD Mutants, Signaling by ERBB2 ECD mutants, Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants, Signaling by PDGFRA extracellular domain mutants Liver Cancer, Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi, Hepatoblastoma, Mouth Neoplasms, Hereditary hemorrhagic telangiectasia, Breast Cancer, Stomach Cancer, Lung Cancer, Genetic Diseases, Renal Cancer, Ovarian Cancer, Colorectal Cancer, PTEN Hamartoma Tumor Syndrome, Adenocarcinoma of Prostate, Neuroblastoma, Nasopharyngeal Cancer, Colonic Neoplasms, Lymphoma, Head and Neck Neoplasms, Rosette-forming glioneuronal tumor, Megalencephaly-Capillary Malformation (MCAP) Syndrome, Head Neoplasms, Adenocarcinoma, Carcinoma, Sarcoma, Cribriform Carcinoma, Cortical Dysplasia, Epidermal nevus, Brain Neoplasms, Macrodactyly of the foot, Multiple Myeloma, Keratosis, Adenoid Cystic Carcinoma, Prostate cancer, Endometrial Cancer, Thyroid Cancer, Megalancephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome, Glioblastoma, Gall Bladder Cancer, Brain Stem Glioma, Fetal Alcohol Syndrome, Stroke, Hydrocephalus, Adrenal Cancer, Schizophrenia, Malformations of Cortical Development, Bladder Cancer, Esophagus Neoplasm, Breast Cancer,Male, Hamartoma, Genital Neoplasms, Male, Intestinal Cancer, Ctaneous Melanoma, Gastric Cancer, Adenocarcinoma Of Pancreas, Medulloblastoma, PCOS, Vulvar Cancer
Membrane
PIK3CG Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma Inositol phosphate metabolism, Metabolic pathways, cGMP-PKG signaling pathway, Chemokine signaling pathway, Phospholipase D signaling pathway, PI3K-Akt signaling pathway, Adrenergic signaling in cardiomyocytes, Apelin signaling pathway, Platelet activation, Cholinergic synapse, Oxytocin signaling pathway, Toxoplasmosis, Kaposi sarcoma-associated herpesvirus infection, GPVI-mediated activation cascade, Synthesis of PIPs at the plasma membrane, G beta:gamma signalling through PI3Kgamma, Erythropoietin activates Phosphoinositide-3-kinase (PI3K) Autistic Disorder, Heart Failure, Medulloblastoma, Myocardial Failure, Lymphoma, PCOS
Membrane
PIK3R1 Phosphoinositide-3-kinase regulatory subunit 1 EGFR tyrosine kinase inhibitor resistance, Endocrine resistance, Platinum drug resistance, ErbB signaling pathway, Ras signaling pathway, Rap1 signaling pathway, cAMP signaling pathway, Chemokine signaling pathway, HIF-1 signaling pathway, FoxO signaling pathway, Phosphatidylinositol signaling system, Sphingolipid signaling pathway, Phospholipase D signaling pathway, Autophagy - animal, mTOR signaling pathway, PI3K-Akt signaling pathway, AMPK signaling pathway, Apoptosis, Longevity regulating pathway, Longevity regulating pathway - multiple species, Cellular senescence, Axon guidance, VEGF signaling pathway, Osteoclast differentiation, Focal adhesion, Signaling pathways regulating pluripotency of stem cells, Platelet activation, Toll-like receptor signaling pathway, C-type lectin receptor signaling pathway, JAK-STAT signaling pathway, Natural killer cell mediated cytotoxicity, T cell receptor signaling pathway, B cell receptor signaling pathway, Fc epsilon RI signaling pathway, Fc gamma R-mediated phagocytosis, TNF signaling pathway, Leukocyte transendothelial migration, Neurotrophin signaling pathway, Cholinergic synapse, Inflammatory mediator regulation of TRP channels, Regulation of actin cytoskeleton, Insulin signaling pathway, Progesterone-mediated oocyte maturation, Estrogen signaling pathway, Prolactin signaling pathway, Thyroid hormone signaling pathway, Regulation of lipolysis in adipocytes, Relaxin signaling pathway, Type II diabetes mellitus, Insulin resistance, Non-alcoholic fatty liver disease (NAFLD), AGE-RAGE signaling pathway in diabetic complications, Aldosterone-regulated sodium reabsorption, Carbohydrate digestion and absorption, Bacterial invasion of epithelial cells, Yersinia infection, Chagas disease (American trypanosomiasis), Amoebiasis, Hepatitis C, Hepatitis B, Measles, Human cytomegalovirus infection, Influenza A, Human papillomavirus infection, Human T-cell leukemia virus 1 infection, Kaposi sarcoma-associated herpesvirus infection, Herpes simplex virus 1 infection, Epstein-Barr virus infection, Human immunodeficiency virus 1 infection, Pathways in cancer, Viral carcinogenesis, Proteoglycans in cancer, Colorectal cancer, Renal cell carcinoma, Pancreatic cancer, Endometrial cancer, Glioma, Prostate cancer, Melanoma, Chronic myeloid leukemia, Acute myeloid leukemia, Small cell lung cancer, Non-small cell lung cancer, Breast cancer, Hepatocellular carcinoma, Gastric cancer, Central carbon metabolism in cancer, Choline metabolism in cancer, PD-L1 expression and PD-1 checkpoint pathway in cancer, Fluid shear stress and atherosclerosis, PI3K Cascade, IRS-mediated signalling, GPVI-mediated activation cascade, Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants, PI3K events in ERBB4 signaling, PIP3 activates AKT signaling, Interleukin-7 signaling, Signaling by SCF-KIT, Synthesis of PIPs at the plasma membrane, GAB1 signalosome, Signaling by cytosolic FGFR1 fusion mutants, Downstream signal transduction, PI3K events in ERBB2 signaling, PI3K/AKT activation, Downstream TCR signaling, Role of phospholipids in phagocytosis, Tie2 Signaling, Constitutive Signaling by Aberrant PI3K in Cancer, DAP12 signaling, Role of LAT2/NTAL/LAB on calcium mobilization, Costimulation by the CD28 family, CD28 dependent PI3K/Akt signaling, G alpha (q) signalling events, GP1b-IX-V activation signalling, VEGFA-VEGFR2 Pathway, Interleukin-3, Interleukin-5 and GM-CSF signaling, Constitutive Signaling by EGFRvIII, PI-3K cascade:FGFR1, PI-3K cascade:FGFR2, PI-3K cascade:FGFR3, PI-3K cascade:FGFR4, Signaling by FGFR2 in disease, Signaling by FGFR4 in disease, Signaling by FGFR1 in disease, Interleukin-4 and Interleukin-13 signaling, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, MET activates PI3K/AKT signaling, Signaling by FGFR3 fusions in cancer, Signaling by FGFR3 point mutants in cancer, RET signaling, Extra-nuclear estrogen signaling, Erythropoietin activates Phosphoinositide-3-kinase (PI3K), Interleukin receptor SHC signaling, Regulation of signaling by CBL, Signaling by ERBB2 KD Mutants, Signaling by ERBB2 ECD mutants, Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants, Signaling by PDGFRA extracellular domain mutants, Antigen activates B Cell Receptor (BCR) leading to generation of second messengers SHORT syndrome, Burkitt Lymphoma, Prostate cancer, Immunodeficiency, Genetic Diseases, Glioblastoma, Carcinoma, Agammaglobulinemia, Bladder Cancer, Brain Neoplasms, Ctaneous Melanoma, Colorectal Cancer, Endometrial Cancer, Anaplastic Carcinoma, PCOS
Membrane
POR Cytochrome p450 oxidoreductase Cytochrome P450 - arranged by substrate type Antley-Bixler Syndrome, Learning Disorders, Disorders of Sex Development, Craniosynostosis, Arthrogryposis, Bladder Cancer, Congenital adrenal hyperplasia, Gliosarcoma, PCOS
Membrane
PTPRC Protein tyrosine phosphatase receptor type C Cell adhesion molecules (CAMs), T cell receptor signaling pathway, Fc gamma R-mediated phagocytosis, Primary immunodeficiency, Phosphorylation of CD3 and TCR zeta chains, Other semaphorin interactions, Neutrophil degranulation Rheumatoid Arthritis, Prostate cancer, SCID, Vitiligo, Colitis, Retinal Diseases, Non-organic psychosis, Psychosis, PCOS
Membrane
RAB5B RAB5B, member RAS oncogene family Ras signaling pathway, Endocytosis, Phagosome, Vasopressin-regulated water reabsorption, Amoebiasis, Tuberculosis, Neutrophil degranulation, TBC/RABGAPs, Clathrin-mediated endocytosis, RAB geranylgeranylation, RAB GEFs exchange GTP for GDP on RABs PCOS, Colorectal Cancer, Diabetes Mellitus, Rectal Neoplasms, Skin Cancer
Membrane
SCD Stearoyl-CoA desaturase Biosynthesis of unsaturated fatty acids, Metabolic pathways, Fatty acid metabolism, PPAR signaling pathway, AMPK signaling pathway, Activation of gene expression by SREBF (SREBP), Fatty acyl-CoA biosynthesis, NR1H2 & NR1H3 regulate gene expression linked to lipogenesis Thyroid associated opthalmopathies, Liver Cancer, Anaplastic Carcinoma, Carcinoma, Ophthalmopathy, Lipoidosis, PCOS
Membrane
SGTA Small glutamine rich tetratricopeptide repeat containing alpha Insertion of tail-anchored proteins into the endoplasmic reticulum membrane Ovarian Cancer, Esophagus Neoplasm, Prostate cancer, Prostate Carcinoma, PCOS
Membrane
SLC2A1 Solute carrier family 2 member 1 HIF-1 signaling pathway, Insulin secretion, Thyroid hormone signaling pathway, Adipocytokine signaling pathway, Glucagon signaling pathway, Insulin resistance, Bile secretion, Human T-cell leukemia virus 1 infection, Pathways in cancer, Renal cell carcinoma, Central carbon metabolism in cancer, Cellular hexose transport, Vitamin C (ascorbate) metabolism, Regulation of insulin secretion, Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1), Lactose synthesis Dystonia, Seizures, Osteoarthrosis Deformans, Diabetes Mellitus , Renal Cancer, Genetic Diseases, Breast Cancer, Ovarian Cancer, GLUT1 Deficiency Syndrome, Liver Cancer, Breast Hyperplasia, Microcephaly, Intellectual Disability, Colonic Neoplasms, Child Development Deviations, Jacksonian Seizure, Atonic seizures, Intraductal Carcinoma, Microlissencephaly, Developmental Disabilities, Rubral Tremor, Ductal Carcinoma, Anemia, Lung Cancer, Stomatin-deficient cryohydrocytosis with neurologic defects, Inborn Errors of Metabolism, Arthritis, Peritoneal Neoplasms, PCOS, Vulvar Cancer
Membrane
SLC2A4 Solute carrier family 2 member 4 FoxO signaling pathway, AMPK signaling pathway, Insulin signaling pathway, Adipocytokine signaling pathway, Type II diabetes mellitus, Insulin resistance, Cellular hexose transport, Transcriptional regulation of white adipocyte differentiation Diabetes Mellitus , Senile Dementia, Alzheimer Disease, PCOS, Obstructive Sleep Apnea
Membrane
SLC18A2 Solute carrier family 18 member A2 Synaptic vesicle cycle, Serotonergic synapse, Dopaminergic synapse, Parkinson disease, Cocaine addiction, Amphetamine addiction, Alcoholism, Serotonin Neurotransmitter Release Cycle, Norepinephrine Neurotransmitter Release Cycle, Dopamine Neurotransmitter Release Cycle, Na+/Cl- dependent neurotransmitter transporters Parkinson Disease, Mental Depression, Schizophrenia, Bipolar Disorder, Mood Disorders, Narcolepsy, Ramsay Hunt Paralysis Syndrome, PCOS
Membrane
TNFRSF1A TNF receptor superfamily member 1A MAPK signaling pathway, Cytokine-cytokine receptor interaction, Viral protein interaction with cytokine and cytokine receptor, NF-kappa B signaling pathway, Sphingolipid signaling pathway, mTOR signaling pathway, Apoptosis, Apoptosis - multiple species, Necroptosis, Osteoclast differentiation, TNF signaling pathway, Adipocytokine signaling pathway, Insulin resistance, Non-alcoholic fatty liver disease (NAFLD), Alzheimer disease, Amyotrophic lateral sclerosis (ALS), Chagas disease (American trypanosomiasis), Toxoplasmosis, Tuberculosis, Hepatitis C, Human cytomegalovirus infection, Influenza A, Human papillomavirus infection, Human T-cell leukemia virus 1 infection, Kaposi sarcoma-associated herpesvirus infection, Herpes simplex virus 1 infection, Human immunodeficiency virus 1 infection, Fluid shear stress and atherosclerosis, TNFR1-induced proapoptotic signaling, Regulation of TNFR1 signaling, TNFR1-induced NFkappaB signaling pathway, TNFR1-mediated ceramide production, TNFs bind their physiological receptors, Interleukin-10 signaling, TNF signaling TRAPS, Diabetes Mellitus , Meniere Disease, Cystic Fibrosis, Heart Failure, Multiple Sclerosis, Biliary Cirrhosis, Genetic Diseases, Mental Depression, Schizophrenia, Autoimmune Diseases, Cerebral Ischemia, Pneumonia, Cholangitis, Psoriasis, Crohn Disease, Spondylitis, Fibrocystic Disease of Pancreas, Myocardial Failure, Chronic Lung Injury, Colitis, PCOS
Membrane
TNFRSF1B TNF receptor superfamily member 1B Cytokine-cytokine receptor interaction, Viral protein interaction with cytokine and cytokine receptor, TNF signaling pathway, Adipocytokine signaling pathway, Amyotrophic lateral sclerosis (ALS), Human immunodeficiency virus 1 infection, TNFR2 non-canonical NF-kB pathway, TNFs bind their physiological receptors, Interleukin-10 signaling, Interleukin-4 and Interleukin-13 signaling, Neutrophil degranulation Pneumonia, Diabetes Mellitus , Non-alcoholic Fatty Liver Disease, Lymphoma, Obesity, Mental Depression, Anemia, Schizophrenia, Cerebral Ischemia, Liver Fibrosis, Autistic Disorder, Liver Cirrhosis, PCOS, Gluocose Intolerance
Membrane
HSP90B1 Heat shock protein 90 beta family member 1 Protein processing in endoplasmic reticulum, PI3K-Akt signaling pathway, IL-17 signaling pathway, Estrogen signaling pathway, Thyroid hormone synthesis, Pathways in cancer, Prostate cancer, Fluid shear stress and atherosclerosis, Trafficking and processing of endosomal TLR, Scavenging by Class A Receptors, ATF6 (ATF6-alpha) activates chaperone genes, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), Interleukin-4 and Interleukin-13 signaling, Post-translational protein phosphorylation Prostate cancer, Bipolar Disorder, PCOS
Membrane
TPST1 Tyrosylprotein sulfotransferase 1 Cytosolic sulfonation of small molecules PCOS, Bladder Cancer, Colorectal Cancer, Cardiovascular Abnormalities
Membrane
PEX3 Peroxisomal biogenesis factor 3 Peroxisome, ABC transporters in lipid homeostasis, Class I peroxisomal membrane protein import PCOS, Skin Cancer, Zellweger syndrome, Nephropathy, Lung Cancer, Genetic Diseases
Membrane
FADS2 Fatty acid desaturase 2 alpha-Linolenic acid metabolism, Biosynthesis of unsaturated fatty acids, Metabolic pathways, Fatty acid metabolism, PPAR signaling pathway, Linoleic acid (LA) metabolism, alpha-linolenic acid (ALA) metabolism Liver Diseases, Metabolic Syndrome X, Colorectal Cancer, Bipolar Disorder, Inflammatory Bowel Diseases, Vitiligo, Rheumatoid Arthritis, Adenocarcinoma Of Large Intestine, Coronary heart disease, Lung Cancer, Lipoidosis, Schizophrenia, Hepatitis, PCOS
Membrane
NCOR1 Nuclear receptor corepressor 1 Endocrine resistance, Thyroid hormone signaling pathway, Transcriptional misregulation in cancer, Nuclear signaling by ERBB4, PPARA activates gene expression, Transcriptional activation of mitochondrial biogenesis, Downregulation of SMAD2/3:SMAD4 transcriptional activity, Constitutive Signaling by NOTCH1 PEST Domain Mutants, Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants, HDACs deacetylate histones, Notch-HLH transcription pathway, Transcriptional regulation of white adipocyte differentiation, Nuclear Receptor transcription pathway, Regulation of lipid metabolism by PPARalpha, Circadian Clock, NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux, HCMV Early Events, NR1H2 & NR1H3 regulate gene expression to control bile acid homeostasis Breast Cancer, Prostate cancer, Carcinoma, Glioblastoma, Hyperbilirubinemia, Endometrioma, Bladder Cancer, Glioblastoma Multiforme, Liver Cancer, Endometriosis, PCOS
Membrane
RAD50 RAD50 double strand break repair protein Homologous recombination, Non-homologous end-joining, Cellular senescence, DNA Damage/Telomere Stress Induced Senescence, HDR through Single Strand Annealing (SSA), HDR through MMEJ (alt-NHEJ), HDR through Homologous Recombination (HRR), Sensing of DNA Double Strand Breaks, Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, Resolution of D-loop Structures through Holliday Junction Intermediates, Nonhomologous End-Joining (NHEJ), Homologous DNA Pairing and Strand Exchange, Processing of DNA double-strand break ends, Presynaptic phase of homologous DNA pairing and strand exchange, Regulation of TP53 Activity through Phosphorylation, G2/M DNA damage checkpoint Narcolepsy, Heriditary Neoplastic Syndrome, Coronary heart disease, Asthma, Breast Cancer, Psoriasis, Nijmegen Breakage Syndrome-Like Disorder, Intellectual Disability, Dermatitis, PCOS
Membrane
RASGRP1 RAS guanyl releasing protein 1 MAPK signaling pathway, Ras signaling pathway, Platelet activation, T cell receptor signaling pathway, Pathways in cancer, PD-L1 expression and PD-1 checkpoint pathway in cancer, Activation of RAS in B cells, Integrin signaling, Rap1 signalling, RAF/MAP kinase cascade Diabetes Mellitus , Endometriosis, Bipolar Disorder, Leukemia, Rheumatoid Arthritis, Libman-Sacks Disease, Lupus Erythematosus, Myeloid Leukemia, Endometrioma, Crohn Disease, PCOS
Membrane
FLOT1 Flotillin 1 Insulin signaling pathway, Synaptic adhesion-like molecules Lung Cancer, Schizophrenia, Diabetes Mellitus , PCOS
Membrane
PGRMC1 Progesterone receptor membrane component 1 Neutrophil degranulation Prostate cancer, PCOS
Membrane
YWHAQ Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta Cell cycle, Oocyte meiosis, PI3K-Akt signaling pathway, Hippo signaling pathway, Pathogenic Escherichia coli infection, Hepatitis C, Hepatitis B, Viral carcinogenesis, Activation of BAD and translocation to mitochondria , RHO GTPases activate PKNs, TP53 Regulates Metabolic Genes, Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex, Regulation of localization of FOXO transcription factors Osteoarthrosis Deformans, Arthritis, PCOS
Membrane
KRR1 KRR1 small subunit processome component homolog Major pathway of rRNA processing in the nucleolus and cytosol PCOS, Breast Cancer, Autistic Disorder, HIV Infections, Lung Cancer
Membrane
MTCH2 Mitochondrial carrier 2 Obesity, PCOS
Membrane
APPL1 Adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 Longevity regulating pathway, Pathways in cancer, Colorectal cancer, Caspase activation via Dependence Receptors in the absence of ligand MODY, PCOS
Membrane
ADIPOR1 Adiponectin receptor 1 AMPK signaling pathway, Longevity regulating pathway, Adipocytokine signaling pathway, Non-alcoholic fatty liver disease (NAFLD), AMPK inhibits chREBP transcriptional activation activity Kidney Failure, Subfertility, Female, PCOS
Membrane
SLC7A10 Solute carrier family 7 member 10 Basigin interactions, Amino acid transport across the plasma membrane Schizophrenia, PCOS
Membrane
CHPT1 Choline phosphotransferase 1 Phosphonate and phosphinate metabolism, Glycerophospholipid metabolism, Ether lipid metabolism, Metabolic pathways, Choline metabolism in cancer, Synthesis of PC Respiratory Distress Syndrome, PCOS
Membrane
PNPLA2 Patatin like phospholipase domain containing 2 Glycerolipid metabolism, Metabolic pathways, Thermogenesis, Regulation of lipolysis in adipocytes, Acyl chain remodeling of DAG and TAG, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), Post-translational protein phosphorylation Neutral Lipid Storage Disease with Myopathy, Genetic Diseases, Heart Diseases, Ovarian Cancer, Myopathy, PCOS
Membrane
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
Membrane
DNAJB14 DnaJ heat shock protein family (Hsp40) member B14 PCOS, Infertility, Long QT Syndrome
Membrane
SORCS1 Sortilin related VPS10 domain containing receptor 1 Autistic Disorder, PCOS

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