GO:0005886
Ontology term |
Gene (Gene Symbol) |
Gene Name |
Pathways |
Associated Diseases |
Plasma membrane |
ABCA1 |
ATP binding cassette subfamily A member 1 |
ABC transporters, Fat digestion and absorption, Cholesterol metabolism, PPARA activates gene expression, Defective ABCA1 causes Tangier disease, HDL assembly, NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux |
Tangier Disease, Hypoalphalipoproteinemia, Colorectal Cancer, Allergic rhinitis, Arteriosclerosis, Macular Degeneration, Atherosclerosis, Hypercholesterolemia, Metabolic Syndrome X, Genetic Diseases, Geographic Atrophy, Coronary heart disease, Hyperlipoproteinemia, Neuropathy, Kidney Failure, Schizophrenia, Tangier Disease Neuropathy, Gout, PCOS, Preeclampsia
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Plasma 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
|
Plasma membrane |
APLNR |
Apelin receptor |
Neuroactive ligand-receptor interaction, Apelin signaling pathway, Peptide ligand-binding receptors, G alpha (i) signalling events |
PCOS, Obesity, Cardiovascular Abnormalities, Liver Cancer, Scleroderma, Renal Cancer, Heart Failure, Coronary heart disease, Liver Cirrhosis, Glioblastoma, Heart Diseases, Ventricular Outflow Obstruction, Hypertensive disease, Skin Fibrosis, Diabetes Mellitus, Cholangiocarcinoma, Gestational Diabetes, Alzheimer Disease, Left Ventricular Hypertrophy, Atherosclerosis, Myocardial Ischemia, Gastric Cancer, Disorder of eye, Diabetic Retinopathy, Tinnitus, Brain Infarction, Diabetic Macular Edema, Hyperinsulinism, Left ventricular abnormality, Albuminuria, Hypotension, Thrombopoiesis, Asthma, Pulmonary Edema, Corneal Neovascularization, Bleeding Disorder, Lung Cancer, Transient Ischemic Attack, Interstitial Cystitis, Fatty Liver, Stroke, HIV Infections, Psoriasis, Atrial Fibrillation, Gastrointestinal Diseases, Degenerative Diseases Central Nervous System, Diabetic Nephropathy, Osteoarthritis, Aortic Valve Stenosis, Renal Fibrosis, Myocardial Infarction, Hematopoietic Neoplasms, Von Willebrand Disease, Liver Fibrosis, Multiple Myeloma, Angina pectoris, Colitis, Colonic Neoplasms, AIDS, Cardiac Arrest, Breast Cancer, Leukemia, Hepatitis C, Acromegaly
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Plasma membrane |
AKT1 |
AKT serine/threonine kinase 1 |
EGFR tyrosine kinase inhibitor resistance, Endocrine resistance, Platinum drug resistance, MAPK signaling pathway, ErbB signaling pathway, Ras signaling pathway, Rap1 signaling pathway, cGMP-PKG signaling pathway, cAMP signaling pathway, Chemokine signaling pathway, HIF-1 signaling pathway, FoxO signaling pathway, 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, Adrenergic signaling in cardiomyocytes, VEGF signaling pathway, Apelin 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, T cell receptor signaling pathway, B cell receptor signaling pathway, Fc epsilon RI signaling pathway, Fc gamma R-mediated phagocytosis, TNF signaling pathway, Neurotrophin signaling pathway, Cholinergic synapse, Dopaminergic synapse, Insulin signaling pathway, Progesterone-mediated oocyte maturation, Estrogen signaling pathway, Prolactin signaling pathway, Thyroid hormone signaling pathway, Adipocytokine signaling pathway, Glucagon signaling pathway, Regulation of lipolysis in adipocytes, Relaxin signaling pathway, Insulin resistance, Non-alcoholic fatty liver disease (NAFLD), AGE-RAGE signaling pathway in diabetic complications, Carbohydrate digestion and absorption, Yersinia infection, Chagas disease (American trypanosomiasis), Toxoplasmosis, 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, 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, PIP3 activates AKT signaling, Downregulation of ERBB2:ERBB3 signaling, Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation, mTOR signalling, AKT phosphorylates targets in the cytosol, AKT phosphorylates targets in the nucleus, Negative regulation of the PI3K/AKT network, eNOS activation, AKT-mediated inactivation of FOXO1A, Integrin signaling, Deactivation of the beta-catenin transactivating complex, CD28 dependent PI3K/Akt signaling, CTLA4 inhibitory signaling, G beta:gamma signalling through PI3Kgamma, Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA, KSRP (KHSRP) binds and destabilizes mRNA, VEGFR2 mediated vascular permeability, TP53 Regulates Metabolic Genes, Constitutive Signaling by AKT1 E17K in Cancer, Interleukin-4 and Interleukin-13 signaling, Regulation of TP53 Degradation, Regulation of TP53 Activity through Acetylation, Regulation of TP53 Activity through Association with Co-factors, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, Cyclin E associated events during G1/S transition , Cyclin A:Cdk2-associated events at S phase entry, PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1, RAB GEFs exchange GTP for GDP on RABs, Regulation of PTEN stability and activity, Extra-nuclear estrogen signaling, Negative regulation of NOTCH4 signaling, Regulation of localization of FOXO transcription factors, Estrogen-dependent nuclear events downstream of ESR-membrane signaling |
Schizophrenia, Breast Cancer, Meningioma, Endometrial Cancer, Bipolar Disorder, Bladder Cancer, Lung Cancer, Colorectal Cancer, Skin Cancer, Ovarian Cancer, Prostate cancer, Breast Cancer,Male, Proteus Syndrome, Liver Cancer, Cardiomyopathy, Osteosarcoma, Intellectual Disability, Mental Depression, Hamartoma, Lymphoma, Epilepsy, Colonic Neoplasms, Intestinal Polyposis, Mood Disorders, Thyroid Cancer, Carcinoma, Myocardial Diseases, Aortic valve calcification, Ctaneous Melanoma, Obesity, Adenocarcinoma of Prostate, Leukemia, Head Neoplasms, Gastric Cancer, PCOS, Vulvar Cancer, Preeclampsia
|
Plasma membrane |
AKT2 |
AKT serine/threonine kinase 2 |
EGFR tyrosine kinase inhibitor resistance, Endocrine resistance, Platinum drug resistance, MAPK signaling pathway, ErbB signaling pathway, Ras signaling pathway, Rap1 signaling pathway, cGMP-PKG signaling pathway, cAMP signaling pathway, Chemokine signaling pathway, HIF-1 signaling pathway, FoxO signaling pathway, 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, Adrenergic signaling in cardiomyocytes, VEGF signaling pathway, Apelin 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, T cell receptor signaling pathway, B cell receptor signaling pathway, Fc epsilon RI signaling pathway, Fc gamma R-mediated phagocytosis, TNF signaling pathway, Neurotrophin signaling pathway, Cholinergic synapse, Dopaminergic synapse, Insulin signaling pathway, Progesterone-mediated oocyte maturation, Estrogen signaling pathway, Prolactin signaling pathway, Thyroid hormone signaling pathway, Adipocytokine signaling pathway, Glucagon signaling pathway, Regulation of lipolysis in adipocytes, Relaxin signaling pathway, Insulin resistance, Non-alcoholic fatty liver disease (NAFLD), AGE-RAGE signaling pathway in diabetic complications, Carbohydrate digestion and absorption, Yersinia infection, Chagas disease (American trypanosomiasis), Toxoplasmosis, 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, 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, PIP3 activates AKT signaling, Downregulation of ERBB2:ERBB3 signaling, Activation of AKT2, Inhibition of TSC complex formation by PKB, AKT phosphorylates targets in the cytosol, AKT phosphorylates targets in the nucleus, Negative regulation of the PI3K/AKT network, AKT-mediated inactivation of FOXO1A, Deactivation of the beta-catenin transactivating complex, CD28 dependent PI3K/Akt signaling, CTLA4 inhibitory signaling, G beta:gamma signalling through PI3Kgamma, VEGFR2 mediated vascular permeability, TP53 Regulates Metabolic Genes, Constitutive Signaling by AKT1 E17K in Cancer, Regulation of TP53 Degradation, Regulation of TP53 Activity through Acetylation, Regulation of TP53 Activity through Association with Co-factors, Cyclin E associated events during G1/S transition , Cyclin A:Cdk2-associated events at S phase entry, RAB GEFs exchange GTP for GDP on RABs, Regulation of PTEN stability and activity, Regulation of localization of FOXO transcription factors, Estrogen-dependent nuclear events downstream of ESR-membrane signaling |
Breast Cancer, Lung Cancer, Diabetes Mellitus , Lipodystrophy, Bipolar Disorder, Colorectal Cancer, Hypoinsulinemic Hypoglycemia With Hemihypertrophy, Nasopharyngeal Cancer, PCOS
|
Plasma 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
|
Plasma membrane |
APC |
APC regulator of WNT signaling pathway |
Wnt signaling pathway, Hippo signaling pathway, Signaling pathways regulating pluripotency of stem cells, Regulation of actin cytoskeleton, Cushing syndrome, Human papillomavirus infection, Pathways in cancer, MicroRNAs in cancer, Colorectal cancer, Endometrial cancer, Basal cell carcinoma, Breast cancer, Hepatocellular carcinoma, Gastric cancer, Apoptotic cleavage of cellular proteins, Degradation of beta-catenin by the destruction complex, Beta-catenin phosphorylation cascade, Deactivation of the beta-catenin transactivating complex, Disassembly of the destruction complex and recruitment of AXIN to the membrane, Misspliced GSK3beta mutants stabilize beta-catenin, S33 mutants of beta-catenin aren't phosphorylated, S37 mutants of beta-catenin aren't phosphorylated, S45 mutants of beta-catenin aren't phosphorylated, T41 mutants of beta-catenin aren't phosphorylated, APC truncation mutants are not K63 polyubiquitinated, APC truncation mutants have impaired AXIN binding, AXIN missense mutants destabilize the destruction complex, Truncations of AMER1 destabilize the destruction complex, Ovarian tumor domain proteases |
Heriditary Neoplastic Syndrome, Adenoma, Intestinal Polyposis, Gardner Syndrome, Colorectal Cancer, Lung Cancer, Colonic Neoplasms, Prostate cancer, Inflammatory Bowel Diseases, Intellectual Disability, Glioblastoma Multiforme, Liver Cancer, Intestinal Cancer, Adenocarcinoma, Gastric Polyposis, Leukocytosis, Rectal Neoplasms, Desmoid Disease, Medulloblastoma, Hepatoblastoma, Autistic Disorder, Hyperlipidemia, Pleocytosis, Mesothelioma, Glioblastoma, Respiratory Distress Syndrome, Gastrointestinal Cancer, Carcinoma, Brain Tumor Polyposis, Eye Abnormalities, Cribriform Carcinoma, Stomach Cancer, Fibromatosis, Schizophrenia, Turcot syndrome, Anemia, PCOS
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Plasma membrane |
FAS |
Fas cell surface death receptor |
Platinum drug resistance, MAPK signaling pathway, Cytokine-cytokine receptor interaction, p53 signaling pathway, Apoptosis, Necroptosis, Natural killer cell mediated cytotoxicity, TNF signaling pathway, Non-alcoholic fatty liver disease (NAFLD), Type I diabetes mellitus, Alzheimer disease, Chagas disease (American trypanosomiasis), African trypanosomiasis, Hepatitis C, Hepatitis B, Measles, Human cytomegalovirus infection, Influenza A, Human papillomavirus infection, Kaposi sarcoma-associated herpesvirus infection, Herpes simplex virus 1 infection, Epstein-Barr virus infection, Human immunodeficiency virus 1 infection, Pathways in cancer, Proteoglycans in cancer, Autoimmune thyroid disease, Allograft rejection, Graft-versus-host disease, Caspase activation via Death Receptors in the presence of ligand, Regulation by c-FLIP, RIPK1-mediated regulated necrosis, CASP8 activity is inhibited, TP53 Regulates Transcription of Death Receptors and Ligands, Dimerization of procaspase-8, FasL/ CD95L signaling |
Lymphoproliferative Disorder, Myasthenia Gravis, Hematological Disease, Lung Cancer, Bladder Cancer, Carcinoma, Leukemia, Arthritis, Lymphoma, Cardiomyopathy, Autoimmune Diseases, Granulomatous Disease, Taste Disorders, Non-alcoholic Fatty Liver Disease, Myeloid Leukemia, Diabetes Mellitus , Myocardial Diseases, Pregnancy Complications, Cardiovascular, Nephritis, Schizophrenia, Anemia, Hypersplenism, Liver Failure, PCOS
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Plasma membrane |
RHOG |
Ras homolog family member G |
Bacterial invasion of epithelial cells, Shigellosis, Salmonella infection, GPVI-mediated activation cascade, PIP3 activates AKT signaling, Rho GTPase cycle, Constitutive Signaling by Aberrant PI3K in Cancer, RHO GTPases activate KTN1, Neutrophil degranulation, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling |
PCOS
|
Plasma 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
|
Plasma 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
|
Plasma membrane |
BRCA1 |
BRCA1 DNA repair associated |
Platinum drug resistance, Homologous recombination, Fanconi anemia pathway, Ubiquitin mediated proteolysis, PI3K-Akt signaling pathway, MicroRNAs in cancer, Breast cancer, SUMOylation of DNA damage response and repair proteins, HDR through Single Strand Annealing (SSA), HDR through Homologous Recombination (HRR), Metalloprotease DUBs, 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, TP53 Regulates Transcription of DNA Repair Genes, Regulation of TP53 Activity through Phosphorylation, G2/M DNA damage checkpoint, Transcriptional Regulation by E2F6 |
Hereditary Breast and Ovarian Cancer Syndrome, Breast Cancer, Heriditary Neoplastic Syndrome, Adenoid Cystic Carcinoma, Ovarian Cancer, Breast Cancer,Male, Pancreatic Neoplasm, Fanconi Anemia, Rhabdomyoma, Prostate cancer, Mental Depression, Disease of mouth, Carcinoma, Anemia, Keratoderma, Hematologic Neoplasms, Dysgerminoma, Anaplastic Carcinoma, Schizophrenia, PCOS
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Plasma membrane |
C9 |
Complement C9 |
Complement and coagulation cascades, Prion diseases, Amoebiasis, Systemic lupus erythematosus, Terminal pathway of complement, Regulation of Complement cascade |
C9 Deficiency, Dermatomyositis, Immunologic Deficiency Syndromes, Lung Cancer, Macular Degeneration, Antibody Deficiency Syndrome, Nodular Elastoidosis, Meningococcal meningitis, Liver Cancer, Favre-Racouchot Syndrome, Dermatitis, Geographic Atrophy, PCOS
|
Plasma membrane |
CD4 |
CD4 molecule |
Cytokine-cytokine receptor interaction, Cell adhesion molecules (CAMs), Antigen processing and presentation, Hematopoietic cell lineage, Th1 and Th2 cell differentiation, Th17 cell differentiation, T cell receptor signaling pathway, Human T-cell leukemia virus 1 infection, Human immunodeficiency virus 1 infection, PD-L1 expression and PD-1 checkpoint pathway in cancer, Primary immunodeficiency, Alpha-defensins, Nef Mediated CD4 Down-regulation, Binding and entry of HIV virion, Vpu mediated degradation of CD4, Downstream TCR signaling, Phosphorylation of CD3 and TCR zeta chains, Translocation of ZAP-70 to Immunological synapse, Generation of second messenger molecules, PD-1 signaling, Other interleukin signaling, Cargo recognition for clathrin-mediated endocytosis, Clathrin-mediated endocytosis |
T4 Epitope Defiency, Muscular Dystrophy, AIDS, PCOS, Vulvar Cancer, Obstructive Sleep Apnea
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Plasma membrane |
CD28 |
CD28 molecule |
Cell adhesion molecules (CAMs), T cell receptor signaling pathway, Intestinal immune network for IgA production, Type I diabetes mellitus, Measles, PD-L1 expression and PD-1 checkpoint pathway in cancer, Autoimmune thyroid disease, Systemic lupus erythematosus, Rheumatoid arthritis, Allograft rejection, Graft-versus-host disease, Viral myocarditis, PIP3 activates AKT signaling, Nef mediated downregulation of CD28 cell surface expression, Constitutive Signaling by Aberrant PI3K in Cancer, CD28 co-stimulation, CD28 dependent PI3K/Akt signaling, CD28 dependent Vav1 pathway, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling |
Rheumatoid Arthritis, Lymphoma, Leukemia, HIV Infections, Colitis, Beryllium Disease, Autoimmune Diseases, HIV Coinfection, Inflammatory Bowel Diseases, Chloracne, PCOS, Preeclampsia
|
Plasma 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
|
Plasma membrane |
CYBB |
Cytochrome b-245 beta chain |
HIF-1 signaling pathway, Phagosome, Ferroptosis, Necroptosis, NOD-like receptor signaling pathway, Leukocyte transendothelial migration, AGE-RAGE signaling pathway in diabetic complications, Leishmaniasis, ROS and RNS production in phagocytes, Cross-presentation of particulate exogenous antigens (phagosomes), Detoxification of Reactive Oxygen Species, VEGFA-VEGFR2 Pathway, RHO GTPases Activate NADPH Oxidases, Neutrophil degranulation |
Hypertensive disease, Granulomatous Disease, Kidney Failure, Myocardial Failure, Brain Infarction, Heart Failure, Diabetes Mellitus , PCOS
|
Plasma membrane |
ACE |
Angiotensin I converting enzyme |
Renin-angiotensin system, Renin secretion, Chagas disease (American trypanosomiasis), Hypertrophic cardiomyopathy (HCM), Metabolism of Angiotensinogen to Angiotensins |
Alzheimer Disease, Mental Depression, Cerebral Ischemia, Glomerulosclerosis, Schizophrenia, Myocardial Infarction, Senile Dementia, Liver Cancer, Cribriform Carcinoma, Autistic Disorder, Glomerulonephritis, Diabetic Nephropathy, Adenocarcinoma, Stroke, Coronary heart disease, Heart Failure, Gaucher Disease, Non-alcoholic Fatty Liver Disease, Prostate cancer, Kidney Failure, Bipolar Disorder, Arteriosclerosis, Hypertensive disease, Stomach Cancer, Male infertility, Carcinoma, Respiratory Distress Syndrome, Kidney Insufficiency, Allanson Pantzar McLeod syndrome, Lung Cancer, Gastric Cancer, Atrial Fibrillation, Renal Tubular Dysgenesis With Choanal Atresia And Athelia, Beryllium Disease, Left Ventricular Hypertrophy, Coronary Restenosis, Myocardial Failure, Glycogen Storage Disease, Pneumonia, Infant, Premature, Diseases, PCOS, Obstructive Sleep Apnea, Gluocose Intolerance, Preeclampsia
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Plasma 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
|
Plasma membrane |
DRD2 |
Dopamine receptor D2 |
Rap1 signaling pathway, cAMP signaling pathway, Neuroactive ligand-receptor interaction, Gap junction, Dopaminergic synapse, Parkinson disease, Cocaine addiction, Alcoholism, Dopamine receptors |
Seizures, Mental Depression, Jacksonian Seizure, Delirium, Parkinson Disease, Memory Disorders, Orofacial dyskinesia, Hyperprolactinemia, Acquired Language Disorders, Catalepsy, Movement Disorders, Extrapyramidal Disorders, Mood Disorders, Dyskinesia, Bipolar Disorder, Kleptomania, Atonic seizures, Ramsay Hunt Paralysis Syndrome, Pituitary Neoplasms, Basal Ganglia Diseases, Status marmoratus, Anxiety Disorders, Ballismus, Anhedonia, Cognition Disorders, Schizophrenia, Developmental Disabilities, Language impairment, Lenticulostriate Disorders, Disruptive, Impulse Control, and Conduct Disorders, Intermittent Explosive Disorder, Attention Deficit Disorder, Minimal Brain Dysfunction, Child Development Deviations, Hypertensive disease, PCOS, Eating Disorders
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Plasma 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
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Plasma membrane |
ERBB2 |
Erb-b2 receptor tyrosine kinase 2 |
EGFR tyrosine kinase inhibitor resistance, Endocrine resistance, Platinum drug resistance, MAPK signaling pathway, ErbB signaling pathway, Calcium signaling pathway, HIF-1 signaling pathway, PI3K-Akt signaling pathway, Focal adhesion, Adherens junction, Tight junction, Pathways in cancer, Proteoglycans in cancer, MicroRNAs in cancer, Pancreatic cancer, Endometrial cancer, Prostate cancer, Bladder cancer, Non-small cell lung cancer, Breast cancer, Gastric cancer, Central carbon metabolism in cancer, Signaling by ERBB2, SHC1 events in ERBB2 signaling, PIP3 activates AKT signaling, GRB7 events in ERBB2 signaling, Downregulation of ERBB2:ERBB3 signaling, GRB2 events in ERBB2 signaling, PI3K events in ERBB2 signaling, Constitutive Signaling by Aberrant PI3K in Cancer, Sema4D induced cell migration and growth-cone collapse, RAF/MAP kinase cascade, ERBB2 Regulates Cell Motility, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, ERBB2 Activates PTK6 Signaling, Downregulation of ERBB2 signaling, TFAP2 (AP-2) family regulates transcription of growth factors and their receptors, Constitutive Signaling by Overexpressed ERBB2, Drug-mediated inhibition of ERBB2 signaling, Signaling by ERBB2 KD Mutants, Resistance of ERBB2 KD mutants to trastuzumab, Resistance of ERBB2 KD mutants to sapitinib, Resistance of ERBB2 KD mutants to tesevatinib, Resistance of ERBB2 KD mutants to neratinib, Resistance of ERBB2 KD mutants to osimertinib, Resistance of ERBB2 KD mutants to afatinib, Resistance of ERBB2 KD mutants to AEE788, Resistance of ERBB2 KD mutants to lapatinib, Signaling by ERBB2 ECD mutants, Signaling by ERBB2 TMD/JMD mutants, Drug resistance in ERBB2 TMD/JMD mutants |
Ovarian Cancer, Breast Cancer, Gall Bladder Cancer, Ctaneous Melanoma, Lung Cancer, Stomach Cancer, Adenocarcinoma, Renal Cancer, Gastric Cancer, Colonic Neoplasms, Carcinoma, Astrocytoma, Prostate cancer, Cancer Metastasis, Endometrial Cancer, Adenocarcinoma of Prostate, Medulloblastoma, Bipolar Disorder, Papilloma, Bladder Cancer, Asthma, Brain Neoplasms, Bronchioloalveolar Adenocarcinoma, Esophagus Neoplasm, Intrahepatic Cholangiocarcinoma, Glioma, Head Neoplasms, Stomach Carcinoma, Glioblastoma Multiforme, Ependymoma, Cribriform Carcinoma, Colorectal Cancer, Carcinoma of Skin, Oligodendroglioma, Nasopharyngeal Cancer, Extrahepatic Cholangiocarcinoma, Gastrointestinal Cancer, Adenocarcinoma Of Pancreas, Cholangiocarcinoma, PCOS, Vulvar Cancer
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Plasma 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
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Plasma membrane |
F3 |
Coagulation factor III, tissue factor |
Complement and coagulation cascades, AGE-RAGE signaling pathway in diabetic complications, Extrinsic Pathway of Fibrin Clot Formation, NGF-stimulated transcription |
Breast Cancer, Myocardial Ischemia, Thrombotic Thrombocytopenic Purpura, Nephrotic Syndrome, Disseminated Intravascular Coagulation, Liver Cirrhosis, Deep Vein Thrombosis, Leukemia, Liver Fibrosis, PCOS, Preeclampsia
|
Plasma membrane |
FCGR1A |
Fc fragment of IgG receptor Ia |
Phagosome, Osteoclast differentiation, Hematopoietic cell lineage, Fc gamma R-mediated phagocytosis, Leishmaniasis, Staphylococcus aureus infection, Tuberculosis, Transcriptional misregulation in cancer, Acute myeloid leukemia, Systemic lupus erythematosus, Cross-presentation of soluble exogenous antigens (endosomes), Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, FCGR activation, Regulation of actin dynamics for phagocytic cup formation, Role of phospholipids in phagocytosis, Interferon gamma signaling, FCGR3A-mediated IL10 synthesis |
Heart Diseases, Tumoral calcinosis, Juvenile arthritis, Still Disease, PCOS
|
Plasma 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
|
Plasma membrane |
FSHR |
Follicle stimulating hormone receptor |
cAMP signaling pathway, Neuroactive ligand-receptor interaction, Ovarian steroidogenesis, Hormone ligand-binding receptors, G alpha (s) signalling events, ADORA2B mediated anti-inflammatory cytokines production |
Gonadal Dysgenesis, 46,XX, Prostate Carcinoma, Ovarian Hyperstimulation Syndrome, Ovarian Cancer, PCOS
|
Plasma membrane |
GPER1 |
G protein-coupled estrogen receptor 1 |
Endocrine resistance, Estrogen signaling pathway, Peptide ligand-binding receptors, G alpha (i) signalling events |
Multiple congenital anomalies, Breast Cancer, PCOS
|
Plasma membrane |
GSK3B |
Glycogen synthase kinase 3 beta |
EGFR tyrosine kinase inhibitor resistance, ErbB signaling pathway, Chemokine signaling pathway, Cell cycle, mTOR signaling pathway, PI3K-Akt signaling pathway, Wnt signaling pathway, Hedgehog signaling pathway, Axon guidance, Hippo signaling pathway, Focal adhesion, Signaling pathways regulating pluripotency of stem cells, IL-17 signaling pathway, T cell receptor signaling pathway, B cell receptor signaling pathway, Neurotrophin signaling pathway, Dopaminergic synapse, Insulin signaling pathway, Melanogenesis, Prolactin signaling pathway, Thyroid hormone signaling pathway, Insulin resistance, Non-alcoholic fatty liver disease (NAFLD), Cushing syndrome, Alzheimer disease, Yersinia infection, Hepatitis C, Measles, Human cytomegalovirus infection, Human papillomavirus infection, Kaposi sarcoma-associated herpesvirus infection, Pathways in cancer, Colorectal cancer, Endometrial cancer, Prostate cancer, Basal cell carcinoma, Breast cancer, Hepatocellular carcinoma, Gastric cancer, Degradation of beta-catenin by the destruction complex, Beta-catenin phosphorylation cascade, Regulation of HSF1-mediated heat shock response, CRMPs in Sema3A signaling, Disassembly of the destruction complex and recruitment of AXIN to the membrane, B-WICH complex positively regulates rRNA expression, Misspliced GSK3beta mutants stabilize beta-catenin, S33 mutants of beta-catenin aren't phosphorylated, S37 mutants of beta-catenin aren't phosphorylated, S45 mutants of beta-catenin aren't phosphorylated, T41 mutants of beta-catenin aren't phosphorylated, APC truncation mutants have impaired AXIN binding, AXIN missense mutants destabilize the destruction complex, Truncations of AMER1 destabilize the destruction complex, GLI3 is processed to GLI3R by the proteasome, Constitutive Signaling by AKT1 E17K in Cancer |
Heart Failure, Myocardial Failure, Neuronal ceroid lipofuscinosis, Mental Depression, Bipolar Disorder, Kidney Failure, Lymphoma, Schizophrenia, Peritonitis, Myocardial Infarction, Alzheimer Disease, Manic Disorder, Senile Dementia, Hypertensive disease, Mood Disorders, Cognition Disorders, Melancholia, Tauopathies, Prostate cancer, Kidney Insufficiency, Multiple congenital anomalies, PCOS, Vulvar Cancer, Gluocose Intolerance
|
Plasma membrane |
HFE |
Homeostatic iron regulator |
Transferrin endocytosis and recycling |
Alzheimer Disease, Senile Dementia, Hemochromatosis, Hepatitis C, Myelodysplastic Syndrome, Hypertensive disease, Schizophrenia, Parkinson Disease, Autistic Disorder, Hypercholesterolemia, Schizoaffective Disorder, PCOS, Gluocose Intolerance
|
Plasma membrane |
HLA-A |
Major histocompatibility complex, class I, A |
Endocytosis, Phagosome, Cellular senescence, Cell adhesion molecules (CAMs), Antigen processing and presentation, Natural killer cell mediated cytotoxicity, Type I diabetes mellitus, Human cytomegalovirus infection, 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, Viral carcinogenesis, Autoimmune thyroid disease, Allograft rejection, Graft-versus-host disease, Viral myocarditis, ER-Phagosome pathway, Endosomal/Vacuolar pathway, Nef mediated downregulation of MHC class I complex cell surface expression, Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, Neutrophil degranulation, Interferon gamma signaling, E3 ubiquitin ligases ubiquitinate target proteins, Interferon alpha/beta signaling, Antigen Presentation: Folding, assembly and peptide loading of class I MHC |
Diabetes Mellitus , Hepatitis, Liver Diseases, Glioma, Erythroderma, Schizophrenia, Parapsoriasis, Parakeratosis Variegata, Autistic Disorder, Multiple Myeloma, Paranoia, Meniere Disease, PCOS, Preeclampsia
|
Plasma membrane |
HTR2C |
5-hydroxytryptamine receptor 2C |
Calcium signaling pathway, Neuroactive ligand-receptor interaction, Gap junction, Serotonergic synapse, Inflammatory mediator regulation of TRP channels, Serotonin receptors, G alpha (q) signalling events |
Mental Depression, Mood Disorders, Obesity, Schizophrenia, Metabolic Syndrome X, Neuralgia, Seasonal Affective Disorder, Bipolar Disorder, PCOS, Eating Disorders, Obstructive Sleep Apnea
|
Plasma 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
|
Plasma 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
|
Plasma membrane |
IRS1 |
Insulin receptor substrate 1 |
cGMP-PKG signaling pathway, FoxO signaling pathway, Autophagy - animal, mTOR signaling pathway, PI3K-Akt signaling pathway, AMPK signaling pathway, Longevity regulating pathway, Longevity regulating pathway - multiple species, Neurotrophin signaling pathway, Insulin signaling pathway, Adipocytokine signaling pathway, Regulation of lipolysis in adipocytes, Type II diabetes mellitus, Insulin resistance, Non-alcoholic fatty liver disease (NAFLD), Aldosterone-regulated sodium reabsorption, MicroRNAs in cancer, PI3K Cascade, IRS-mediated signalling, SOS-mediated signalling, PIP3 activates AKT signaling, Interleukin-7 signaling, PI3K/AKT activation, Constitutive Signaling by Aberrant PI3K in Cancer, IRS-related events triggered by IGF1R, RAF/MAP kinase cascade, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, IRS activation, Signal attenuation |
Diabetes Mellitus , Coronary heart disease, Prostate cancer, Arteriosclerosis, Liver Cancer, Hyperinsulinism, Hyperlipidemia, Obesity, PCOS, Obstructive Sleep Apnea, Gluocose Intolerance
|
Plasma membrane |
ITGAM |
Integrin subunit alpha M |
Rap1 signaling pathway, Phagosome, Cell adhesion molecules (CAMs), Complement and coagulation cascades, Hematopoietic cell lineage, Leukocyte transendothelial migration, Regulation of actin cytoskeleton, Pertussis, Legionellosis, Leishmaniasis, Amoebiasis, Staphylococcus aureus infection, Tuberculosis, Transcriptional misregulation in cancer, Acute myeloid leukemia, Toll Like Receptor 4 (TLR4) Cascade, Cell surface interactions at the vascular wall, Integrin cell surface interactions, Interleukin-4 and Interleukin-13 signaling, Neutrophil degranulation |
Lupus Erythematosus, Bipolar Disorder, Systemic Lupus Erythematosus, Colitis, Schizophrenia, Scleroderma, Libman-Sacks Disease, Leukemia, Multiple Sclerosis, Dermatitis, PCOS
|
Plasma membrane |
KCNQ1 |
Potassium voltage-gated channel subfamily Q member 1 |
Adrenergic signaling in cardiomyocytes, Cholinergic synapse, Gastric acid secretion, Pancreatic secretion, Protein digestion and absorption, Vibrio cholerae infection, Voltage gated Potassium channels, Phase 3 - rapid repolarisation, Phase 2 - plateau phase |
Long QT Syndrome, Diabetes Mellitus , Short Qt Syndrome, Atrial Fibrillation, Adenocarcinoma, Coronary heart disease, Cardiomyopathy, Beckwith-Wiedemann Syndrome, Cribriform Carcinoma, Gout, Intestinal Cancer, Carcinoma, Marfan Syndrome, PCOS, Obstructive Sleep Apnea, Preeclampsia
|
Plasma membrane |
LHCGR |
Luteinizing hormone/choriogonadotropin receptor |
Calcium signaling pathway, Neuroactive ligand-receptor interaction, Ovarian steroidogenesis, Prolactin signaling pathway, Hormone ligand-binding receptors, G alpha (s) signalling events, ADORA2B mediated anti-inflammatory cytokines production |
Leydig cell agenesis, Leydig Cell Hypoplasia, Gonadal Dysgenesis, 46,XY, Familial Testotoxicosis, Leydig Cell Adenoma, Ambiguous Genitalia, Male infertility, Pseudohermaphroditism, Luteinizing Hormone Resistance, Intersex Conditions, Hermaphroditism, Disorders of Sex Development, Leydig Cell Tumor, Sex Differentiation Disorders, PCOS
|
Plasma membrane |
LRP5 |
LDL receptor related protein 5 |
mTOR signaling pathway, Wnt signaling pathway, Parathyroid hormone synthesis, secretion and action, Pathways in cancer, Breast cancer, Hepatocellular carcinoma, Gastric cancer, Negative regulation of TCF-dependent signaling by WNT ligand antagonists, Disassembly of the destruction complex and recruitment of AXIN to the membrane, Regulation of FZD by ubiquitination, Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling, RNF mutants show enhanced WNT signaling and proliferation |
Vitreoretinopathy, Osteoporosis with pseudoglioma, Genetic Diseases, Van Buchem disease, Retinopathy of Prematurity, Worth disease, Osteoporosis, PCOS
|
Plasma 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
|
Plasma membrane |
LYN |
LYN proto-oncogene, Src family tyrosine kinase |
Chemokine signaling pathway, NF-kappa B signaling pathway, Platelet activation, B cell receptor signaling pathway, Fc epsilon RI signaling pathway, Fc gamma R-mediated phagocytosis, Long-term depression, Epithelial cell signaling in Helicobacter pylori infection, Kaposi sarcoma-associated herpesvirus infection, Epstein-Barr virus infection, Viral carcinogenesis, GPVI-mediated activation cascade, Signaling by SCF-KIT, Regulation of KIT signaling, Cell surface interactions at the vascular wall, FCGR activation, PECAM1 interactions, Fc epsilon receptor (FCERI) signaling, Role of LAT2/NTAL/LAB on calcium mobilization, FCERI mediated MAPK activation, FCERI mediated Ca+2 mobilization, FCERI mediated NF-kB activation, CD28 co-stimulation, CTLA4 inhibitory signaling, EPHB-mediated forward signaling, EPHA-mediated growth cone collapse, EPH-ephrin mediated repulsion of cells, Dectin-2 family, CD209 (DC-SIGN) signaling, CD22 mediated BCR regulation, Cyclin D associated events in G1, Platelet Adhesion to exposed collagen, Erythropoietin activates Phosphoinositide-3-kinase (PI3K), Erythropoietin activates RAS, Regulation of signaling by CBL, FCGR3A-mediated IL10 synthesis, FCGR3A-mediated phagocytosis, Growth hormone receptor signaling |
Lupus Erythematosus, HIV Coinfection, Hypertensive disease, HIV Infections, PCOS
|
Plasma membrane |
MTNR1A |
Melatonin receptor 1A |
Neuroactive ligand-receptor interaction, Circadian entrainment, Class A/1 (Rhodopsin-like receptors), G alpha (i) signalling events |
Autistic Disorder, Schizophrenia, Retinal Diseases, PCOS
|
Plasma membrane |
MTNR1B |
Melatonin receptor 1B |
Neuroactive ligand-receptor interaction, Circadian entrainment, Class A/1 (Rhodopsin-like receptors), G alpha (i) signalling events |
Diabetes Mellitus , Autistic Disorder, Meniere Disease, Schizophrenia, Ovarian Cancer, PCOS
|
Plasma 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
|
Plasma membrane |
NOS2 |
Nitric oxide synthase 2 |
Arginine biosynthesis, Arginine and proline metabolism, Metabolic pathways, Calcium signaling pathway, HIF-1 signaling pathway, Peroxisome, Apelin signaling pathway, Relaxin signaling pathway, Salmonella infection, Pertussis, Leishmaniasis, Chagas disease (American trypanosomiasis), Toxoplasmosis, Amoebiasis, Tuberculosis, Pathways in cancer, Small cell lung cancer, ROS and RNS production in phagocytes, Nitric oxide stimulates guanylate cyclase, Interleukin-4 and Interleukin-13 signaling, Peroxisomal protein import, Inhibition of nitric oxide production |
Breast Cancer, Parkinson Disease, Stevens-Johnson Syndrome, Colonic Neoplasms, Duodenal Ulcer, Myocardial Infarction, Esophagus Neoplasm, Mitochondrial Diseases, Heart Failure, Mental Depression, Asthma, Lung Cancer, Cerebral Ischemia, Psoriasis, Gastric ulcer, Enterocolitis, Hemorrhages, Seizures, Extrahepatic Cholangiocarcinoma, Cardiovascular Abnormalities, Glomerulosclerosis, Hypertensive disease, Stroke, Colitis, Ischemic Encephalopathy, Retinal Diseases, Pulmonary Fibrosis, Status Epilepticus, Cholestasis, Kidney Insufficiency, Intestinal Diseases, Intrahepatic Cholangiocarcinoma, Cerebral Edema, Diabetes Mellitus , Myocardial Stunning, Autistic Disorder, Bronchial Diseases, Atherosclerosis, Arthritis, Psoriatic, Cholangitis, Petit mal status, Atonic seizures, Crohn Disease, Aortitis Syndrome, Hibernating Myocardium, Takayasu Arteritis, Meniere Disease, Airway Obstruction, Mendelson Syndrome, Turner Syndrome, Marfan Syndrome, Kidney Failure, Myocardial Failure, Chronic Obstructive Pulmonary Disease, Cholangiocarcinoma, Liver Diseases, Glomerular Hyalinosis, Pneumonia, Pulmonary asbestosis, Jacksonian Seizure, Urinary tract infection, Silicosis, Hyperemia, Spondylitis, Pustulosis, PCOS, Obstructive Sleep Apnea
|
Plasma membrane |
NUCB2 |
Nucleobindin 2 |
|
Prostate cancer, PCOS
|
Plasma membrane |
ENPP1 |
Ectonucleotide pyrophosphatase/phosphodiesterase 1 |
Purine metabolism, Pyrimidine metabolism, Starch and sucrose metabolism, Riboflavin metabolism, Nicotinate and nicotinamide metabolism, Pantothenate and CoA biosynthesis, Metabolic pathways, Vitamin B2 (riboflavin) metabolism, Vitamin B5 (pantothenate) metabolism |
Cole Disease, Arterial calcification of infancy, Coronary Sclerosis, Erythrokeratoderma, Endometrioma, Rickets, Keratosis, OPLL, Endometriosis, PCOS
|
Plasma membrane |
PECAM1 |
Platelet and endothelial cell adhesion molecule 1 |
Cell adhesion molecules (CAMs), Leukocyte transendothelial migration, Malaria, Fluid shear stress and atherosclerosis, Platelet degranulation , Cell surface interactions at the vascular wall, PECAM1 interactions, Integrin cell surface interactions, Platelet sensitization by LDL, Neutrophil degranulation |
Autistic Disorder, Arteriosclerosis, Autoimmune Diseases, PCOS
|
Plasma 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
|
Plasma 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
|
Plasma membrane |
PKD1 |
Polycystin 1, transient receptor potential channel interacting |
VxPx cargo-targeting to cilium |
Polycystic Kidney Diseases, Genetic Diseases, Aortic aneurysm, Pancreatic Cyst, Renal hypertension, Brain Aneurysm, PCOS
|
Plasma membrane |
PTEN |
Phosphatase and tensin homolog |
Inositol phosphate metabolism, Metabolic pathways, EGFR tyrosine kinase inhibitor resistance, FoxO signaling pathway, Phosphatidylinositol signaling system, Sphingolipid signaling pathway, p53 signaling pathway, Autophagy - animal, mTOR signaling pathway, PI3K-Akt signaling pathway, Cellular senescence, Focal adhesion, Insulin resistance, Human papillomavirus infection, Human T-cell leukemia virus 1 infection, Pathways in cancer, MicroRNAs in cancer, Endometrial cancer, Glioma, Prostate cancer, Melanoma, Small cell lung cancer, Breast cancer, Hepatocellular carcinoma, Central carbon metabolism in cancer, PD-L1 expression and PD-1 checkpoint pathway in cancer, Synthesis of PIPs at the plasma membrane, Synthesis of IP3 and IP4 in the cytosol, Negative regulation of the PI3K/AKT network, Downstream TCR signaling, TP53 Regulates Metabolic Genes, PTEN Loss of Function in Cancer, Ub-specific processing proteases, Ovarian tumor domain proteases, Regulation of PTEN mRNA translation, Regulation of PTEN localization, Regulation of PTEN stability and activity, Transcriptional Regulation by MECP2 |
Lhermitte-Duclos disease, Heriditary Neoplastic Syndrome, Prostate cancer, Endometrial Cancer, PTEN Hamartoma Tumor Syndrome, Lipomatosis, Adenocarcinoma, Genetic Diseases, Lung Cancer, Meningioma, Ovarian Cancer, Nasopharyngeal Cancer, Pancreatic Neoplasm, Carcinoma, Autistic Disorder, Cerebellar Granule Cell Hypertrophy and Megalencephaly, Brain Neoplasms, Glioma, Intellectual Disability, Language Development Disorder, Neurodevelopmental Disorders, Proteus Syndrome, Anisometropia, Cribriform Carcinoma, Colorectal Cancer, Cerebelloparenchymal Disorder VI, Prostatic Intraepithelial Neoplasias, Central Auditory Processing Disorder, Bannayan-Riley-Ruvalcaba Syndrome, Adenoid Cystic Carcinoma, Breast Cancer, Glioblastoma, Hypertensive disease, Asthma, Hemangioma, Semantic-Pragmatic Disorder, Head Neoplasms, Adenoma, Macrocephaly/autism syndrome, Dermatitis, Lymphoma, Intrahepatic Cholangiocarcinoma, Hibernoma, Endometrial Hyperplasia, Radial Club Hand, Child Development Deviations, Lipoma, Extrahepatic Cholangiocarcinoma, Renal Cancer, Fatty Liver, Hydrocephalus, Motor Skills Disorders, Chorioangioma, Developmental Disabilities, Liver Cancer, Thyroid Cancer, Mouth Neoplasms, Gastrointestinal Cancer, Adenocarcinoma of Prostate, VACTERL Association, Long QT Syndrome, Angioma, Cholangiocarcinoma, Multiple congenital anomalies, Gastric Cancer, Bladder Cancer, Ctaneous Melanoma, Leukemia, LEOPARD Syndrome, Anaplastic Carcinoma, Polydactyly, PCOS, Vulvar Cancer, Preeclampsia
|
Plasma 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
|
Plasma 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
|
Plasma membrane |
S100A9 |
S100 calcium binding protein A9 |
IL-17 signaling pathway, RHO GTPases Activate NADPH Oxidases, Regulation of TLR by endogenous ligand, Neutrophil degranulation, Metal sequestration by antimicrobial proteins |
Respiratory Distress Syndrome, Colonic Neoplasms, Schizophrenia, PCOS
|
Plasma membrane |
S100A12 |
S100 calcium binding protein A12 |
TAK1 activates NFkB by phosphorylation and activation of IKKs complex, Neutrophil degranulation, Advanced glycosylation endproduct receptor signaling, TRAF6 mediated NF-kB activation |
PCOS, Pulmonary Edema, Hemorrhages, Osteolysis, Atherosclerosis, Pulmonary Hypertension, Pulmonary Tuberculosis, Cardiovascular Abnormalities, Blau Syndrome, Gastric Cancer, Acute Coronary Syndrome, Hypercholesterolemia, Huntington Disease, Pancreatitis, Bladder Cancer, Multiple Sclerosis, Aortic valve calcification, Uveitis, Skin Fibrosis, Psoriasis, Carotid Artery Diseases, Biliary Cirrhosis, Carcinoma, Infertility, Juvenile arthritis, Aortic Aneurysm, Brain Infarction, Kidney Insufficiency, Heart Failure, Osteoarthritis, Pneumonia, Synovitis, Kawasaki disease, Otitis, Inflammatory Bowel Diseases, Colitis, Transient Ischemic Attack, Coronary heart disease, Stroke
|
Plasma 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
|
Plasma 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
|
Plasma membrane |
SOD1 |
Superoxide dismutase 1 |
Peroxisome, Longevity regulating pathway - multiple species, Amyotrophic lateral sclerosis (ALS), Huntington disease, Prion diseases, Platelet degranulation , Detoxification of Reactive Oxygen Species, Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation |
Lateral Sclerosis, Transient Ischemic Attack, Heart Failure, Hypertensive disease, Liver Diseases, Motor Neuron Disease, Glioma, Asthma, Down Syndrome, Fatty Liver, Chronic hepatitis, Stroke, Mental Depression, Marfan Syndrome, Spina Bifida, Diabetic Retinopathy, Pulmonary Fibrosis, Atherosclerosis, Parkinson Disease, Kidney Failure, Schizophrenia, Hepatitis, Brain Ischemia, Hyperthyroidism, Alcoholic fatty liver, Obesity, Asphyxia Neonatorum, Cerebral Ischemia, Turner Syndrome, Ovarian Cancer, Myocardial Failure, Melancholia, Nephrosis, Anemia, Kidney Calculi, Myocardial Infarction, Bipolar Disorder, Kearns-Sayre syndrome, Diabetes Mellitus , Protein Deficiency, Kidney Insufficiency, Dermatitis, Gait Disorders, Aortic Diseases, Ureteral Calculi, MELAS Syndrome, Deficiency Diseases, Anterior Horn Cell Disease, PCOS, Obstructive Sleep Apnea
|
Plasma membrane |
STXBP1 |
Syntaxin binding protein 1 |
Synaptic vesicle cycle, Serotonin Neurotransmitter Release Cycle, Norepinephrine Neurotransmitter Release Cycle, Glutamate Neurotransmitter Release Cycle, Dopamine Neurotransmitter Release Cycle, Acetylcholine Neurotransmitter Release Cycle, GABA synthesis, release, reuptake and degradation |
Encephalopathies, Genetic Diseases, Epilepsy, Horizontal Nystagmus, Schizophrenia, Strabismus, Infantile Spasm, Neurodevelopmental Disorders, PCOS
|
Plasma membrane |
TACR3 |
Tachykinin receptor 3 |
Calcium signaling pathway, Neuroactive ligand-receptor interaction, Tachykinin receptors bind tachykinins, G alpha (q) signalling events |
Schizophrenia, Hypogonadism, PCOS, Precocious Puberty
|
Plasma membrane |
TLR2 |
Toll like receptor 2 |
Phagosome, PI3K-Akt signaling pathway, Toll-like receptor signaling pathway, Legionellosis, Leishmaniasis, Chagas disease (American trypanosomiasis), Malaria, Toxoplasmosis, Amoebiasis, Tuberculosis, Hepatitis B, Measles, Herpes simplex virus 1 infection, Epstein-Barr virus infection, Human immunodeficiency virus 1 infection, Proteoglycans in cancer, PD-L1 expression and PD-1 checkpoint pathway in cancer, Inflammatory bowel disease (IBD), Rheumatoid arthritis, ER-Phagosome pathway, Beta defensins, MyD88:MAL(TIRAP) cascade initiated on plasma membrane, Toll Like Receptor TLR1:TLR2 Cascade, Toll Like Receptor TLR6:TLR2 Cascade, MyD88 deficiency (TLR2/4), IRAK4 deficiency (TLR2/4), Regulation of TLR by endogenous ligand, Neutrophil degranulation, Modulation by Mtb of host immune system |
Eosinophilia, Schizophrenia, Meniere Disease, Kidney Failure, Colorectal Cancer, Cardiomyopathy, Kidney Insufficiency, Rheumatoid Arthritis, Keratitis, Myocardial Diseases, Cholestasis, Bipolar Disorder, PCOS, Obstructive Sleep Apnea, Preeclampsia
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Plasma membrane |
FZD5 |
Frizzled class receptor 5 |
mTOR signaling pathway, Wnt signaling pathway, Hippo signaling pathway, Signaling pathways regulating pluripotency of stem cells, Melanogenesis, Cushing syndrome, Human papillomavirus infection, Pathways in cancer, Proteoglycans in cancer, Basal cell carcinoma, Breast cancer, Hepatocellular carcinoma, Gastric cancer, Ca2+ pathway, Asymmetric localization of PCP proteins, Disassembly of the destruction complex and recruitment of AXIN to the membrane, Regulation of FZD by ubiquitination, WNT5A-dependent internalization of FZD2, FZD5 and ROR2, RNF mutants show enhanced WNT signaling and proliferation |
PCOS, Colorectal Cancer, Pancreatic Cyst, Myeloid Leukemia, Fatty Liver, Congenital Ocular Coloboma, Psoriasis, Osteoarthritis, Gastrointestinal Cancer, Pulmonary Hypertension, Prostate cancer, Gastric Cancer, Scleroderma, Alcoholic fatty liver, Myopia, Pancreatic Neoplasm, Neuroendocrine Tumor, Ovarian Cysts, Carcinoma, Lymphangioma, Osteoporosis, Bladder Exstrophy, Inflammatory Bowel Diseases, Renal Cancer, Retinitis Pigmentosa, Endometrial Cancer, Anemia
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Plasma membrane |
FZD3 |
Frizzled class receptor 3 |
mTOR signaling pathway, Wnt signaling pathway, Axon guidance, Hippo signaling pathway, Signaling pathways regulating pluripotency of stem cells, Melanogenesis, Cushing syndrome, Human papillomavirus infection, Pathways in cancer, Proteoglycans in cancer, MicroRNAs in cancer, Basal cell carcinoma, Breast cancer, Hepatocellular carcinoma, Gastric cancer, Ca2+ pathway, PCP/CE pathway, Asymmetric localization of PCP proteins |
Non-organic psychosis, Mood Disorders, Schizophrenia, Psychosis, PCOS
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Plasma membrane |
ADAM12 |
ADAM metallopeptidase domain 12 |
Invadopodia formation |
Attention Deficit Disorder, Skin Cancer, Schizophrenia, PCOS
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Plasma membrane |
IRS4 |
Insulin receptor substrate 4 |
cGMP-PKG signaling pathway, FoxO signaling pathway, Autophagy - animal, AMPK signaling pathway, Longevity regulating pathway, Longevity regulating pathway - multiple species, Insulin signaling pathway, Adipocytokine signaling pathway, Regulation of lipolysis in adipocytes, Type II diabetes mellitus, IRS-related events triggered by IGF1R |
PCOS, Hypothyroidism, Skin Cancer, Uterine Fibroids, Pancreatic Neoplasm, Meningioma
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Plasma membrane |
OGT |
O-linked N-acetylglucosamine (GlcNAc) transferase |
Other types of O-glycan biosynthesis, Insulin resistance, HATs acetylate histones, UCH proteinases |
Mental Retardation, Intellectual Disability, PCOS
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Plasma membrane |
IRS2 |
Insulin receptor substrate 2 |
cGMP-PKG signaling pathway, FoxO signaling pathway, Autophagy - animal, AMPK signaling pathway, Longevity regulating pathway, Longevity regulating pathway - multiple species, Insulin signaling pathway, Adipocytokine signaling pathway, Regulation of lipolysis in adipocytes, Type II diabetes mellitus, Insulin resistance, Non-alcoholic fatty liver disease (NAFLD), MicroRNAs in cancer, PI3K Cascade, IRS-mediated signalling, SOS-mediated signalling, PIP3 activates AKT signaling, Interleukin-7 signaling, PI3K/AKT activation, Constitutive Signaling by Aberrant PI3K in Cancer, IRS-related events triggered by IGF1R, RAF/MAP kinase cascade, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, IRS activation, Signal attenuation, RET signaling, Erythropoietin activates Phosphoinositide-3-kinase (PI3K), Erythropoietin activates RAS |
Liver Cancer, Medulloblastoma, Hyperglycemia, Stomach Cancer, Gastric Cancer, PCOS
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Plasma membrane |
TNFRSF25 |
TNF receptor superfamily member 25 |
Cytokine-cytokine receptor interaction, TNFs bind their physiological receptors |
PCOS, Autoimmune Diseases, Genitourinary Cancer, Necrosis, Inflammatory Bowel Diseases
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Plasma membrane |
DIRAS3 |
DIRAS family GTPase 3 |
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Oligodendroglioma, Ovarian Cancer, Osteosarcoma, Stomach Carcinoma, Breast Cancer, Cancer Metastasis, Liver Cancer, Prostate cancer, Intrahepatic cholangiocarcinoma, Glioma, Stomach Cancer, Prostate Carcinoma, Russell-Silver syndrome, Pancreatic Neoplasm, Germ Cell Tumor, PCOS
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Plasma membrane |
SH2B3 |
SH2B adaptor protein 3 |
Neurotrophin signaling pathway, Regulation of KIT signaling, Factors involved in megakaryocyte development and platelet production |
Diabetes Mellitus , Biliary Cirrhosis, Inflammatory Bowel Diseases, Arteriosclerosis, Spondylitis, Hematologic Neoplasms, Stroke, Psoriasis, Colorectal Cancer, Celiac Disease, Hypothyroidism, Leukemia, Thrombocytopenia, Crohn Disease, Myocardial Infarction, Myelofibrosis, Cholangitis, Coronary heart disease, Vitiligo, Autoimmune Hepatitis, Endometrial Cancer, Colitis, Tetralogy of Fallot, Lupus Erythematosus, Libman-Sacks Disease, PCOS, Obstructive Sleep Apnea
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Plasma membrane |
EBI3 |
Epstein-Barr virus induced 3 |
Interleukin-35 Signalling, Interleukin-27 signaling |
Gastric Cancer, Stomach Cancer, PCOS
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Plasma membrane |
FLOT1 |
Flotillin 1 |
Insulin signaling pathway, Synaptic adhesion-like molecules |
Lung Cancer, Schizophrenia, Diabetes Mellitus , PCOS
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Plasma membrane |
RASGRP2 |
RAS guanyl releasing protein 2 |
MAPK signaling pathway, Ras signaling pathway, Rap1 signaling pathway, Chemokine signaling pathway, Platelet activation, Pathways in cancer, Integrin signaling, Rap1 signalling |
Bleeding Disorder, PCOS
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Plasma membrane |
DKK1 |
Dickkopf WNT signaling pathway inhibitor 1 |
Wnt signaling pathway, Negative regulation of TCF-dependent signaling by WNT ligand antagonists, Misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling |
Breast Cancer, Endometrioma, Endometriosis, PCOS
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Plasma membrane |
RHOQ |
Ras homolog family member Q |
Insulin signaling pathway, Rho GTPase cycle, RHO GTPases regulate CFTR trafficking |
Colorectal Cancer, PCOS
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Plasma 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
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Plasma 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
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Plasma membrane |
TLR8 |
Toll like receptor 8 |
Toll-like receptor signaling pathway, Trafficking and processing of endosomal TLR, Toll Like Receptor 7/8 (TLR7/8) Cascade, TRAF6 mediated IRF7 activation in TLR7/8 or 9 signaling, TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation, MyD88 dependent cascade initiated on endosome |
PCOS, HIV Infections, Systemic Lupus Erythematosus, Rheumatoid Arthritis, Autoimmune Diseases, Hemorrhages, Schizophrenia, Psoriasis, Pulmonary Tuberculosis, Lung Cancer, Periodontitis, Metabolic Diseases, Breast Cancer, Scleroderma, Cardiomyopathy, Hepatitis C, Carcinoma, Leukemia, Cognition Disorders, Head and Neck Neoplasms, Arthritis, Liver Diseases, Asthma, Obesity, Ovarian Cancer, Respiratory Tract Infections, Dental Caries, Allergic rhinitis, Graft-vs-Host Disease, MECP2 deficiency, Transient Ischemic Attack, Multiple Myeloma, Lupus Nephritis, Bronchiolitis, Irritable Bowel Syndrome, Immunodeficiency, Aicardi-Goutieres syndrome, Pulmonary Fibrosis, Hepatitis B, Diabetes Insipidus, HIV Coinfection, Mental Depression, Lymphoma, HPV infection, Hearing Loss, Cerebral Thrombosis, Pneumonia, Colorectal Cancer, Hepatitis E, Endometriosis, Myeloid Leukemia, Pancreatitis, Cystic Fibrosis, Myocarditis, Lupus Erythematosus, Charcot-Marie-Tooth Disease, Genetic Diseases, Multiple Sclerosis, Influenza, Encephalomylitis, Dermatomyositis, Hypertensive disease, Preeclampsia, Juvenile arthritis, Colitis, Biliary Atresia, Diabetes Mellitus, Antiphospholipid Syndrome, Renal Cancer, HCV infections, Psychosis, Osteosarcoma, Cardiovascular Abnormalities, Neutropenia, Hepatitis, Lung Diseases, Coronary heart disease, Carotid Atherosclerosis, Intestinal Polyposis, Prostate cancer, Agammaglobulinemia, IRAK-4 deficiency, Necrosis, Respiratory Distress Syndrome
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Plasma membrane |
ADIPOR2 |
Adiponectin receptor 2 |
AMPK signaling pathway, Longevity regulating pathway, Adipocytokine signaling pathway, Non-alcoholic fatty liver disease (NAFLD), AMPK inhibits chREBP transcriptional activation activity |
Subfertility, Female, PCOS
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Plasma membrane |
SLC30A8 |
Solute carrier family 30 member 8 |
Insulin processing, Zinc efflux and compartmentalization by the SLC30 family |
Diabetes Mellitus , Asthma, Aortic Aneurysm, Coronary heart disease, Schizophrenia, PCOS
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Plasma membrane |
FNDC5 |
Fibronectin type III domain containing 5 |
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Diabetes Mellitus , Obesity, Prediabetes, Diabetic Nephropathy, Liver Fibrosis, Non-alcoholic Fatty Liver Disease, PCOS, Gluocose Intolerance
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Plasma membrane |
PCSK9 |
Proprotein convertase subtilisin/kexin type 9 |
Cholesterol metabolism, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), VLDLR internalisation and degradation, Post-translational protein phosphorylation, LDL clearance |
Hypercholesterolemia, Myocardial Infarction, Arteriosclerosis, Nephroblastoma, Coronary heart disease, Ischemic Cardiomyopathy, PCOS
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