Associated Ontology Terms

 

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1 to 10 of 1473 Ontology terms
Ontology term Gene (Gene Symbol) Gene Name Pathways Associated Diseases
Protein binding
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 ABC transporters, Fat digestion and absorption Alzheimers disease, Amyloid deposition, Cardiovascular diseases, Dyslipidemia, Hypercholesterolemia, Inflammation, Obesity, Polycystic ovary syndrome (PCOS), Renal disease, Stroke, Tangier disease, Xanthomatosis
ACE Angiotensin I converting enzyme Renin-angiotensin system, Chagas disease (American trypanosomiasis), Hypertrophic cardiomyopathy (HCM) Albuminuria, Aldosteronism secondary, Atrial fibrillation, Cardiovascular diseases, Cerebrovascular disease, Diabetes mellitus, Dyslipidemia, Erythrocytosis, Essential hypertension, Glomerulosclerosis, Infarct, Nephrotic syndrome, Renal disease, Renovascular, Restenosis, Retinopathy, Sarcoidosis pulmonary, Sclerosis systemic, Stroke, Vascular diseases, Ventricular dilatation, Ventricular dysfunction, Ventricular hypertrophy
ACVR1 Activin A receptor, type I Cytokine-cytokine receptor interaction, TGF-beta signaling pathway Fibrodysplasia ossificans progressiva, Ossification heterotopic, Inflammation, Cancer, Polycystic ovary syndrome (PCOS)
ADIPOQ Adiponectin, C1Q and collagen domain containing PPAR signaling pathway, Adipocytokine signaling pathway, Type II diabetes mellitus Obesity, Cardiovascular diseases, Dyslipidemia, Inflammation, Liver diseases, Diabetes gestational, Diabetes mellitus, Vascular diseases, Anorexia nervosa, Renal disease, Preeclampsia, Apnea sleep, Albuminuria, Hypercholesterolemia, Arteriosclerosis, Proteinuria, Growth hormone deficiency, Ventricular hypertrophy, Cancer (endometrial cancer), Acromegaly, Arthritis, Asthma, Psychotic, Endometriosis, Major depression, Polycystic ovary syndrome (PCOS)
ADRB2 Adrenoceptor beta 2, surface Calcium signaling pathway, Neuroactive ligand-receptor interaction, Endocytosis, Salivary secretion Insulin resistance
ADRB3 Adrenoceptor beta 3 Calcium signaling pathway, Neuroactive ligand-receptor interaction, Endocytosis, Salivary secretion Hyperandrogenism, Polycystic ovary syndrome (PCOS)
AGER Advanced glycosylation end product-specific receptor Diabetes mellitus, Inflammation, Vascular diseases, Retinopathy, Renal disease, Glomerulosclerosis, Senile plaques, Cardiovascular diseases, Uremia, Amyloidosis, Dementia, Essential hypertension, Restenosis, Preeclampsia, Cancer, Polycystic ovary syndrome (PCOS)
AKT1 V-akt murine thymoma viral oncogene homolog 1 Uterine leiomyomas and endometriosis, Endometrial hyperplasia
AKT2 V-akt murine thymoma viral oncogene homolog 2 Pathways in cancer, MAPK signaling pathway, ErbB signaling pathway, Chemokine signaling pathway, mTOR signaling pathway, Apoptosis, VEGF signaling pathway, Osteoclast differentiation, Focal adhesion, Tight junction, Toll-like 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, Neurotrophin signaling pathway, Cholinergic synapse, Insulin signaling pathway, Progesterone-mediated oocyte maturation, Adipocytokine signaling pathway, Carbohydrate digestion and absorption, Chagas disease (American trypanosomiasis), Toxoplasmosis, Tuberculosis, Hepatitis C, Measles, Influenza A, 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 Cancer (carcinoma), Diabetes mellitus, Polycystic ovary syndrome (PCOS)
APC Adenomatous polyposis coli Wnt signaling pathway, Regulation of actin cytoskeleton, Pathways in cancer, Colorectal cancer, Endometrial cancer, Basal cell carcinoma Polycystic ovary syndrome (PCOS)
APOA1 Apolipoprotein A-I PPAR signaling pathway, Fat digestion and absorption, Vitamin digestion and absorption, African trypanosomiasis Obesity, Insulin resistance, Hyperandrogenism, Dyslipidemia, Coronary heart disease
APOE Apolipoprotein E Insulin resistance, Inflammation, Hypertriglyceridaemia, Hyperandrogenism, Atherosclerosis
AR Androgen receptor Oocyte meiosis, Pathways in cancer, Prostate cancer Androgen insensitivity syndrome, Virilization, Pseudohermaphroditism, Hypospadias, Azoospermia, Oligozoospermia, Spermatogenesis arrest, Cancer (carcinoma), Infertility, Testicular dysgenesis, Primary amenorrhea, Withdrawal syndrome, Neurodegenerative diseases, Cancer (adenoma), Mental retardation, Obesity, Preeclampsia, Bone loss
BAX BCL2-associated X protein Polycystic ovary syndrome (PCOS), Endometrial hyperplasia
BDNF Brain-derived neurotrophic factor MAPK signaling pathway, Neurotrophin signaling pathway Bipolar disorder, Major depression, Schizophrenia, Alzheimers disease, Huntington disease, Parkinson disease, Wagr syndrome, Amyotrophic lateral sclerosis, Bulimia nervosa, Multiple sclerosis, Attention-deficit hyperactivity disorder, Anorexia nervosa, Cns diseases, Psychotic, Cognitive dysfunction, Dementia, Epilepsy, Anxiety disorders, Dermatitis atopic, Autistic, Status epilepticus, Hyperalgesia, Cerebral ischemia, Mental retardation, Allergic reaction, Lupus erythematosus systemic, Inflammation, Skin diseases, Cardiovascular diseases, Hypertrophy, Cancer (adenocarcinoma)
C3 Complement component 3 Phagosome, Complement and coagulation cascades, Pertussis, Leishmaniasis, Chagas disease (American trypanosomiasis), Staphylococcus aureus infection, Tuberculosis, Systemic lupus erythematosus Obesity, Inflammation, Atherosclerosis, Vasculitis, Hemolysis, Renal disease, Arthritis, Diabetes mellitus
CCL2 Chemokine (C-C motif) ligand 2 Cytokine-cytokine receptor interaction, Chemokine signaling pathway, NOD-like receptor signaling pathway, Chagas disease (American trypanosomiasis), Malaria, Influenza A, Rheumatoid arthritis Vascular damage and cardiovascular disease, Polycystic ovary syndrome (PCOS), Obesity, Low-grade chronic inflammation, Hyperinsulinism, Hyperglycemia, Hyperandrogenism, Chronic low-level inflammation, Atherogenesis
CD28 CD28 molecule Diabetes mellitus type 2 , Coronary instability
CD4 CD4 molecule Cell adhesion molecules (CAMs), Antigen processing and presentation, Hematopoietic cell lineage, T cell receptor signaling pathway, Primary immunodeficiency Diabetes mellitus type 2 , Polycystic ovary syndrome (PCOS), Cardiovascular diseases
CGA glycoprotein hormones, alpha polypeptide Neuroactive ligand-receptor interaction, GnRH signaling pathway, Ovarian steroidogenesis, Prolactin signaling pathway, Thyroid hormone synthesis, Autoimmune thyroid disease Polycystic ovary syndrome (PCOS)
COMT Catechol-O-methyltransferase Steroid hormone biosynthesis, Tyrosine metabolism, Metabolic pathways Parkinson disease, Schizophrenia, Velo-cardio-facial syndrome, Attention-deficit hyperactivity disorder, Bipolar disorder, Psychotic, Antisocial behavior, Cognitive dysfunction, Major depression, Conduct disorder, Anorexia nervosa, Aggressive behavior, Alcoholism, Tourette syndrome, Temporomandibular disorders, Narcolepsy, Bulimia, Obesity, Alzheimers disease, Cancer, Atherosclerosis, Diabetes mellitus insulin-dependent, Hypertension arterial, Mental retardation, Hypercholesterolemia, Migraine
CRH Corticotropin releasing hormone Long-term depression Acth deficiency, Major depression, Anxiety disorders, Stress disorders posttraumatic, Anorexia nervosa, Preterm delivery, Psychiatric disorder, Alcoholism, Preeclampsia, Panic disorder, Endocrine disorder, Obesity, Labor premature, Fibromyalgia, Hyperandrogenism, Rheumatoid arthritis, Dementia multi-infarct, Epilepsy frontal lobe, Cancer (choriocarcinoma), Gastrointestinal diseases, Sheehan syndrome, Virilization, Alzheimers disease, Polycystic ovary syndrome (PCOS)
CRP C-reactive protein, pentraxin-related Inflammation, Cardiovascular diseases, Atherosclerosis, Obesity, Acute pancreatitis, Arthritis, Dyslipidemia, Lupus erythematosus systemic, Vasculitis, Renal disease, Diabetes mellitus, Microalbuminuria, Stills disease adult-onset, Appendicitis, Stroke, Kawasaki disease, Behcet disease, Restenosis, Arthropathy, Polycystic ovary syndrome (PCOS)
DRD2 Dopamine receptor D2 Neuroactive ligand-receptor interaction, Gap junction Alcoholism, Hyperprolactinemia, Psychotic, Tourette syndrome, Pituitary tumors, Movement disorders, Attention-deficit hyperactivity disorder, Bipolar disorder, Antisocial disorder, Striatonigral degeneration, Huntington disease, Chronic schizophrenia, Migraine, Cognitive deficit, Wilson disease, Narcolepsy, Obesity, Stress disorders posttraumatic, Conduct disorder, Ataxia telangiectasia, Mental retardation, Alzheimers disease, Cancer (carcinoma), Anxiety disorders, Personality disorders, Aggressive behavior
ENPP1 Ectonucleotide pyrophosphatase/phosphodiesterase 1 Purine metabolism, Starch and sucrose metabolism, Riboflavin metabolism, Nicotinate and nicotinamide metabolism, Pantothenate and CoA biosynthesis, Metabolic pathways Polycystic ovary syndrome (PCOS)
ESR1 Estrogen receptor 1 Endocrine and other factor-regulated calcium reabsorption Spontaneous abortion, Infertility, Endometrial hyperplasia, Abnormal follicular development
ESR2 Estrogen receptor 2 (ER beta) Polycystic ovary syndrome (PCOS), Infertility, Endometrial hyperplasia
F3 Coagulation factor III (thromboplastin, tissue factor) Complement and coagulation cascades Atherothrombosis
F5 Coagulation factor V (proaccelerin, labile factor) Complement and coagulation cascades Recurrent pregnancy loss, Polycystic ovary syndrome (PCOS)
FABP4 Fatty acid binding protein 4, adipocyte PPAR signaling pathway Obesity, Atherosclerosis, Cardiovascular diseases, Inflammation, Cancer
FAS Fas cell surface death receptor Polycystic ovary syndrome (PCOS)
FEM1B Fem-1 homolog b (C. elegans) Polycystic ovary syndrome (PCOS)
FMR1 Fragile X mental retardation 1 Fragile x syndrome, Mental retardation, Neurodegenerative diseases, Developmental disabilities, Ovarian dysfunction, Spinocerebellar ataxias, Movement disorders, Myotonic dystrophy, Menstrual irregularity, Short stature, Autoimmune diseases, Hypothyroidism, Psychiatric disorder, Schizophrenia, Epilepsy, Parkinson disease, Polycystic ovary syndrome (PCOS)
FSHB Follicle stimulating hormone, beta polypeptide Neuroactive ligand-receptor interaction, GnRH signaling pathway Infertility, Puberty delayed, Primary amenorrhea, Pituitary tumors, Hypogonadism, Cancer (adenoma), Virilization, Azoospermia
FSHR Follicle stimulating hormone receptor Neuroactive ligand-receptor interaction Primary amenorrhea, Resistant ovary syndrome, Infertility, Secondary amenorrhea, Puberty precocious, Azoospermia, Gonadal dysfunction, Polycystic ovaries, Ovarian diseases, Epithelial tumor, Hypothyroidism, Endometriosis, Anovulation, Obesity, Hyperthyroidism, Cancer (carcinoma), Polycystic ovary syndrome (PCOS)
FST Follistatin TGF-beta signaling pathway Polycystic ovaries, Endometriosis, Renal failure chronic, Azoospermia, Inflammation, Liver diseases, Infertility, Atherosclerosis, Miscarriage, Cancer (carcinoma), Polycystic ovary syndrome (PCOS)
GATA6 GATA binding protein 6 Adrenal tumor, Cancer (carcinoma)
GH1 Growth hormone 1 Cytokine-cytokine receptor interaction, Neuroactive ligand-receptor interaction, Jak-STAT signaling pathway Acromegaly, Acth deficiency, Pituitary diseases, Gigantism, Endocrine disorder, Anorexia nervosa, Hypothyroidism, Cushing syndrome, Hyperthyroidism, Vipoma, Hyperandrogenism, Diabetes mellitus, Osteoporosis, Acth syndrome ectopic, Cancer (choriocarcinoma), Marasmus
GHR Growth hormone receptor Cytokine-cytokine receptor interaction, Neuroactive ligand-receptor interaction, Jak-STAT signaling pathway Laron syndrome, Acromegaly, Obesity, Cancer (adenoma), Diabetes mellitus insulin-dependent, Uremia, Hypothyroidism, Diabetes mellitus, Hyperthyroidism, Cancer (carcinoma), Actinic keratosis, Stroke
GNAQ Guanine nucleotide binding protein (G protein), q polypeptide Calcium signaling pathway, Vascular smooth muscle contraction, Gap junction, Long-term potentiation, Glutamatergic synapse, Cholinergic synapse, Long-term depression, GnRH signaling pathway, Melanogenesis, Endocrine and other factor-regulated calcium reabsorption, Salivary secretion, Gastric acid secretion, Pancreatic secretion, Chagas disease (American trypanosomiasis), African trypanosomiasis, Amoebiasis Cardiac hypertrophy
GSK3B Glycogen synthase kinase 3 beta ErbB signaling pathway, Chemokine signaling pathway, Cell cycle, Wnt signaling pathway, Hedgehog signaling pathway, Axon guidance, Focal adhesion, T cell receptor signaling pathway, B cell receptor signaling pathway, Neurotrophin signaling pathway, Insulin signaling pathway, Melanogenesis, Hepatitis C, Measles, Influenza A, Pathways in cancer, Colorectal cancer, Endometrial cancer, Prostate cancer, Basal cell carcinoma Senile plaques, Dementia, Parkinson disease, Cancer (carcinoma), Polycystic ovary syndrome (PCOS)
HFE Hemochromatosis Insulin resistance, Inflammation, Hyperandrogenism
HLA-A Major histocompatibility complex, class I, A Endocytosis, Phagosome, Cell adhesion molecules (CAMs), Antigen processing and presentation, Natural killer cell mediated cytotoxicity, Type I diabetes mellitus, Autoimmune thyroid disease, Allograft rejection, Graft-versus-host disease, Viral myocarditis Diabetes mellitus insulin-dependent, Celiac disease, Psoriasis, Graves disease, Endometriosis, Primary tumor, Autoimmunity, Cancer (carcinoma), Multiple sclerosis
HOXA10 Homeobox A10 Endometriosis, Cryptorchidism, Infertility, Cancer (endometrial carcinoma), Pregnancy loss
HP Haptoglobin Polycystic ovary syndrome (PCOS), Obesity, Chronic inflammation
HSPE1 Heat shock 10kDa protein 1
IDE Insulin-degrading enzyme Alzheimers disease, Dementia, Diabetes mellitus, Diabetes gestational, Hyperandrogenism, Acanthosis nigricans, Retinopathy, Anovulation, Rabson-mendenhall syndrome, Autoimmune diseases, Hypogonadism, TCM syndrome, Polycystic ovary syndrome (PCOS), Cardiovascular diseases, Obesity
IGF1 Insulin-like growth factor 1 (somatomedin C) Oocyte meiosis, p53 signaling pathway, mTOR signaling pathway, Focal adhesion, Long-term depression, Progesterone-mediated oocyte maturation, Aldosterone-regulated sodium reabsorption, Pathways in cancer, Glioma, Prostate cancer, Melanoma, Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy Acromegaly, Laron syndrome, Short stature, Cancer (adenoma), Pituitary tumors, Pituitary diseases, Osteoporosis, Obesity, Dwarfism, Rabson-mendenhall syndrome, Hyperandrogenism, Hypertrophy, Diabetes mellitus, Polycystic ovaries, Renal failure chronic, Gigantism, Endocrine disorder, Peho syndrome, Retinopathy, Hypothyroidism, Anovulation, Cardiovascular diseases, Noonan syndrome, Acanthosis nigricans, Uremia, Amyotrophic lateral sclerosis, Cancer (prostate carcinoma), Osteoarthritis, Polycystic ovary syndrome (PCOS), Hypopituitarism, Hyperinsulinism
IGF1R Insulin-like growth factor 1 receptor Oocyte meiosis, Endocytosis, Focal adhesion, Adherens junction, Long-term depression, Progesterone-mediated oocyte maturation, Pathways in cancer, Glioma, Prostate cancer, Melanoma Short stature, Acanthosis nigricans, Polycystic ovaries, Cancer (carcinoma), Primary tumor, Hypertrophy, Micrognathia, Keloid, Atherosclerotic plaque, Polycythemia vera, Development delay
IGF2 Insulin-like growth factor 2 (somatomedin A) Beckwith-wiedemann syndrome, Acromegaly, Hypoglycemic coma, Cancer (carcinoma), Adrenal tumor, Fetal macrosomia, Diabetes mellitus insulin-dependent, Omphalocele, Polycystic ovary syndrome (PCOS), Infertility
IGF2R Insulin-like growth factor 2 receptor Lysosome Polycystic ovary syndrome (PCOS), Inflammation, Diabetes mellitus, Cardiometabolic disease, Abnormal folliculogenesis
IGFBP2 Insulin-like growth factor binding protein 2, 36kDa Polycystic ovary syndrome (PCOS), Atresia
IGFBP3 Insulin-like growth factor binding protein 3 p53 signaling pathway Laron syndrome, Acromegaly, Rabson-mendenhall syndrome, Gigantism pituitary, Hyperandrogenism, Acquired hypothyroidism, Noonan syndrome, Osteoporosis, Marasmus, Anorexia nervosa, Hypothyroidism, Bone loss, Cancer (carcinoma), Diabetes mellitus, Dwarfism, Ovarian failure premature, Werner syndrome, Cancer (adenoma), Retinopathy, Perthes disease, Anovulation, Preeclampsia, Erythrocytosis, Atresia, Sotos syndrome, Liver dysfunction, Cardiovascular diseases, Polycystic ovary syndrome (PCOS)
IL1A Interleukin 1, alpha Inflammation, Psoriasis, Arthritis, Cancer (middle ear cholesteatoma), Cysts, Acantholysis, Skin diseases, Hypercalcemia, Alzheimers disease, Autoimmune diseases, Acne vulgaris, Sclerosis systemic, Lung diseases interstitial, Gingivitis, Fibrosis idiopathic pulmonary, Endometriosis, Pemphigus vulgaris, Alopecia areata, Fatty liver alcoholic, Cancer (adenoma), Thyroid diseases
IL5 Interleukin 5 Inflammation
IL6ST Interleukin 6 signal transducer Cytokine-cytokine receptor interaction, Jak-STAT signaling pathway Polycystic ovary syndrome (PCOS)
INHA Inhibin, alpha Cancer (adenoma), Hydatidiform mole, Ovarian failure premature, Trophoblastic disease, Cancer (carcinoma), Von hippel-lindau disease, Preeclampsia, Autoimmunity, Polycystic ovary syndrome (PCOS)
INHBA Inhibin, beta A Cytokine-cytokine receptor interaction, TGF-beta signaling pathway Follicle arrest
INHBB Inhibin, beta B Cytokine-cytokine receptor interaction, TGF-beta signaling pathway Polycystic ovary syndrome (PCOS), Ovarian dysfunction, Insulin resistance, Hypogonadotropic amenorrhea, Hyperandrogenism, Follicle arrest
INS Insulin Oocyte meiosis, Regulation of autophagy, mTOR signaling pathway, Regulation of actin cytoskeleton, Insulin signaling pathway, Progesterone-mediated oocyte maturation, Type II diabetes mellitus, Type I diabetes mellitus, Maturity onset diabetes of the young, Aldosterone-regulated sodium reabsorption, Prostate cancer Hyperinsulinism, Dyslipidaemia, Insulin secretion, Obesity, Acanthosis nigricans, Androgen Excess, Cardiovascular disease, Polycystic ovary syndrome (PCOS), Hyperandrogenemia , Hyperandrogenism
INSR Insulin receptor Adherens junction, Insulin signaling pathway, Type II diabetes mellitus, Aldosterone-regulated sodium reabsorption Rabson-mendenhall syndrome, Acanthosis nigricans, Obesity, Hyperandrogenism, Diabetes mellitus, Myotonic dystrophy, Dyslipidemia, Fatty liver, Werner syndrome, Skin lesion, Hyperthyroidism, Cancer (adenoma), Cancer (carcinoma), Parkinson disease, Schizophrenia, Retinopathy, Hypertension arterial, Autoimmunity, Polycystic ovary syndrome (PCOS)
IRS1 Insulin receptor substrate 1 Neurotrophin signaling pathway, Insulin signaling pathway, Adipocytokine signaling pathway, Type II diabetes mellitus, Aldosterone-regulated sodium reabsorption Diabetes gestational, Diabetes mellitus, Cancer (carcinoma), Coronary heart disease, Liver diseases, Atherosclerosis, Polycystic ovary syndrome (PCOS), Insulin resistance
IRS2 Insulin receptor substrate 2 Neurotrophin signaling pathway, Insulin signaling pathway, Adipocytokine signaling pathway, Type II diabetes mellitus, Aldosterone-regulated sodium reabsorption Obesity, Bone loss age-related, Diabetes gestational, Cancer (carcinoma), Atherosclerosis, Polycystic ovary syndrome (PCOS)
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit) Rap1 signaling pathway, Phagosome, Cell adhesion molecules (CAMs), Hematopoietic cell lineage, Leukocyte transendothelial migration, Regulation of actin cytoskeleton, Pertussis, Legionellosis, Leishmaniasis, Amoebiasis, Staphylococcus aureus infection, Tuberculosis, Transcriptional misregulation in cancer Polycystic ovary syndrome (PCOS)
JUN Jun proto-oncogene MAPK signaling pathway, ErbB signaling pathway, Wnt signaling pathway, Osteoclast differentiation, Focal adhesion, Toll-like receptor signaling pathway, T cell receptor signaling pathway, B cell receptor signaling pathway, Neurotrophin signaling pathway, GnRH signaling pathway, Epithelial cell signaling in Helicobacter pylori infection, Pertussis, Leishmaniasis, Chagas disease (American trypanosomiasis), Influenza A, Pathways in cancer, Colorectal cancer, Renal cell carcinoma, Rheumatoid arthritis Cardiac hypertrophy, Vascular diseases, Cancer (carcinoma), Skin tumor, Alzheimers disease, Keloid, Osteoporosis, Multiple sclerosis, Ataxia telangiectasia, Chronic low-grade inflammation
KISS1 KiSS-1 metastasis-suppressor Preeclampsia, Hypertrophy, Cancer (carcinoma), Polycystic ovary syndrome (PCOS)
KLK3 Kallikrein-related peptidase 3 Pathways in cancer, Prostate cancer Prostatic adenocarcinoma, Hyperandrogenism, Hirsutism
KRT18 Keratin 18 Pathogenic Escherichia coli infection Nonalcoholic steatohepatitis
LEPR Leptin receptor Cytokine-cytokine receptor interaction, Neuroactive ligand-receptor interaction, Jak-STAT signaling pathway, Adipocytokine signaling pathway Diabetes mellitus type 2 , Polycystic ovary syndrome (PCOS), Obesity, Infertility, Hyperandrogenism, Hirsutism, Anovulation, Amenorrhoea and oligomenorrhoea
LIPE Lipase, hormone-sensitive Insulin signaling pathway Dyslipidemia, Niddm
LMNA Lamin A/C Hypertrophic cardiomyopathy (HCM), Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated cardiomyopathy Progeria, Lgmd1b, Cancer (mandibuloacral dysplasia), Lipodystrophy, Muscular dystrophies, Werner syndrome, Charcot-marie-tooth disease, Myopathy, Cardiomyopathy, Dyslipidemia, Arrhythmia, Hypertrophy, Atrial fibrillation, Obesity, Growth retardation, Atrophy, Cancer (metaplasia), Ventricular dysfunction left, Calcification, Cancer (carcinoma), Diabetes mellitus, Polycystic ovary syndrome (PCOS), Insulin resistance
MAPK1 mitogen-activated protein kinase 1 Oocyte meiosis, mTOR signaling pathway, PI3K-Akt signaling pathway, ErbB signaling pathway, HIF-1 signaling pathway, FoxO signaling pathway, Chemokine signaling pathway, MAPK signaling pathway, Rap1 signaling pathway, Ras signaling pathway, Adrenergic signaling in cardiomyocytes, Vascular smooth muscle contraction, Dorso-ventral axis formation, TGF-beta signaling pathway, Axon guidance, VEGF signaling pathway, Osteoclast differentiation, Focal adhesion, Adherens junction, Gap junction, Toll-like receptor signaling pathway, NOD-like receptor 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, Circadian entrainment, Long-term potentiation, Neurotrophin signaling pathway, Retrograde endocannabinoid signaling, Glutamatergic synapse, Cholinergic synapse, Serotonergic synapse, Long-term depression, Regulation of actin cytoskeleton, Insulin signaling pathway, GnRH signaling pathway, Progesterone-mediated oocyte maturation, Estrogen signaling pathway, Melanogenesis, Prolactin signaling pathway, Thyroid hormone signaling pathway, Oxytocin signaling pathway, Type II diabetes mellitus, Aldosterone-regulated sodium reabsorption, Alzheimers disease, Prion diseases, Alcoholism, Shigellosis, Salmonella infection, Pertussis, Leishmaniasis, Chagas disease (American trypanosomiasis), Toxoplasmosis, Tuberculosis, Hepatitis C, Hepatitis B, Influenza A, Pathways in cancer, Viral carcinogenesis, Proteoglycans in cancer, MicroRNAs in cancer, Colorectal cancer, Renal cell carcinoma, Pancreatic cancer, Endometrial cancer, Glioma, Prostate cancer, Thyroid cancer, Melanoma, Bladder cancer, Chronic myeloid leukemia, Acute myeloid leukemia, Non-small cell lung cancer Hyperinsulinemia., Polycystic ovary syndrome (PCOS)
MIF Macrophage migration inhibitory factor (glycosylation-inhibiting factor) Tyrosine metabolism, Phenylalanine metabolism Inflammation, Arthritis, Autoimmune diseases, Glomerulonephritis, Endometriosis, Aggressiveness, Acute respiratory distress, Atherosclerosis, Allergic reaction, Infertility, Anemia, Acute pancreatitis, Dermatitis atopic, Skin lesion, Cardiovascular diseases, Asthma, Gastrointestinal diseases, Cancer (metaplasia), Autoimmunity, Atopy, Cancer (adenoma), Alzheimers disease, Multiple sclerosis, Polycystic ovary syndrome (PCOS), Obesity, Insulin resistance
MMP2 Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) Leukocyte transendothelial migration, GnRH signaling pathway, Pathways in cancer, Bladder cancer Polycystic ovary syndrome (PCOS), Hyperandrogenism, Follicular atresia, Chronic low-grade inflammation, Atherothrombosis
MMP9 Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) Leukocyte transendothelial migration, Pathways in cancer, Bladder cancer Polycystic ovary syndrome (PCOS), Hyperandrogenism, Follicular atresia, Chronic low-grade inflammation, Atherothrombosis
MUC1 Mucin 1, cell surface associated Essential hypertension, Cardiovascular diseases, Vitreoretinopathy proliferative, Cancer (adenoma), Preeclampsia, Hypotension, Ischemia, Aldosteronism primary, Inflammation, Adrenal tumor, Arteriosclerosis, Kawasaki disease, Nephrotic syndrome minimal change, Stroke, Lung diseases, Schizophrenia, Cancer (anaplastic astrocytoma), Chronic kidney disease, Arrhythmia, Thrombosis, Asthma, Retinopathy, Ventricular hypertrophy, Cerebrovascular disease, Hyperthyroidism, Endometrial infertility
NCOR1 Nuclear receptor corepressor 1 Cancer (carcinoma), Polycystic ovary syndrome (PCOS)
NR3C1 Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) Neuroactive ligand-receptor interaction Obesity, XY partial gonadal dysgenesis, XX primary ovarian insufficiency, Secondary amenorrhea, Primary Ovarian Insufficiency (POI), Primary amenorrhea, Premature ovarian failure (POF), Infertility, 46 XY disorder of sex development, Polycystic ovary syndrome (PCOS)
NR5A1 nuclear receptor subfamily 5, group A, member 1 Polycystic ovary syndrome (PCOS), Chronic anovulation, Infertility
PECAM1 platelet/endothelial cell adhesion molecule 1 Endothelial dysfunction, Polycystic ovary syndrome (PCOS)
PGR Progesterone receptor Oocyte meiosis, Progesterone-mediated oocyte maturation Infertility
PGRMC1 Progesterone receptor membrane component 1 Premature ovarian failure (POF)
PIBF1 Progesterone immunomodulatory binding factor 1 Polycystic ovary syndrome (PCOS)
PIK3R1 Phosphoinositide-3-kinase, regulatory subunit 1 (alpha) ErbB signaling pathway, Chemokine signaling pathway, Phosphatidylinositol signaling system, mTOR signaling pathway, Apoptosis, VEGF signaling pathway, Osteoclast differentiation, Focal adhesion, Toll-like 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, Leukocyte transendothelial migration, Neurotrophin signaling pathway, Cholinergic synapse, Regulation of actin cytoskeleton, Insulin signaling pathway, Progesterone-mediated oocyte maturation, Type II diabetes mellitus, Aldosterone-regulated sodium reabsorption, Carbohydrate digestion and absorption, Bacterial invasion of epithelial cells, Chagas disease (American trypanosomiasis), Toxoplasmosis, Amoebiasis, Hepatitis C, Measles, Influenza A, Pathways 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 Niddm, Wiskott-aldrich syndrome, Cancer (carcinoma)
PLAT plasminogen activator, tissue Transcriptional misregulation in cancer, Complement and coagulation cascades Polycystic ovary syndrome (PCOS)
PPARG Peroxisome proliferator-activated receptor gamma PPAR signaling pathway, Osteoclast differentiation, Pathways in cancer, Thyroid cancer Polycystic ovary syndrome (PCOS)
PPARGC1A Peroxisome proliferator-activated receptor gamma, coactivator 1 alpha Insulin signaling pathway, Adipocytokine signaling pathway Obesity, Dyslipidemia, Inflammation, Cardiovascular diseases, Diabetes mellitus, Cancer (adenoma), Alzheimers disease, Restenosis, Pulmonary fibrosis, Pituitary tumors, Edema, Bone loss, Renal disease, Multiple sclerosis, Cancer (carcinoma papillary), Chronic obstructive asthma, Liver diseases, Hyperinsulinism, Polycystic ovary syndrome (PCOS)
RAB5B RAB5B, member RAS oncogene family Ras signaling pathway, Endocytosis, Phagosome, Vasopressin-regulated water reabsorption, Amoebiasis, Tuberculosis Polycystic ovary syndrome (PCOS)
RBP4 Retinol binding protein 4, plasma Vitamin A deficiency, Albuminuria, Renal disease, Liver diseases, Inflammation, Nephrotic syndrome, Hyperostosis diffuse idiopathic skeletal, Dyslipidemia, Zinc deficiency, Diabetes mellitus, Cardiovascular diseases, Hypercholesterolemia, Atherosclerosis, Cancer (carcinoma), Lupus erythematosus systemic, Retinopathy, Alzheimers disease, Cystic fibrosis, Obesity, Polycystic ovary syndrome (PCOS)
S100A12 Retinol binding protein 4, plasma
SERPINC1 Serpin peptidase inhibitor, clade C (antithrombin), member 1 Complement and coagulation cascades Insulin resistance, Polycystic ovary syndrome (PCOS)
SERPINE1 Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 Chagas disease (American trypanosomiasis), Complement and coagulation cascades, Hippo signaling pathway, p53 signaling pathway, HIF-1 signaling pathway Venous occlusion, Inflammation, Preeclampsia, Arterial thrombosis, Hepatic veno-occlusive disease, Essential hypertension, Renal disease, Stroke, Hypercholesterolemia, Diabetes mellitus, Hyperlipidemia, Arteriosclerosis, Ovarian tumor benign, Albuminuria, Chronic glomerulonephritis, Retinopathy, Thromboembolism pulmonary, Liver fibrosis, Cerebral infarction, Pulmonary fibrosis, Cancer (breast carcinoma), Spontaneous miscarriage, Recurrent pregnancy loss, Polycystic ovary syndrome (PCOS), Miscarriage, Insulin resistance, Hypofibrinolysis, Hypertriglyceridemia, Hyperinsulinism, Hyperandrogenism, Diabetes, Anovulation, Cardiovascular diseases, Obesity
SLC2A4 Solute carrier family 2 (facilitated glucose transporter), member 4 Insulin signaling pathway, Adipocytokine signaling pathway, Type II diabetes mellitus Polycystic ovary syndrome (PCOS), Diabetes mellitus, Ovarian tumor benign, Cancer (carcinoma), Inflammation, Myopathy, Hypertrophy, Hyperinsulinism
SOCS3 Suppressor of cytokine signaling 3 Ubiquitin mediated proteolysis, Osteoclast differentiation, Jak-STAT signaling pathway, Insulin signaling pathway, Adipocytokine signaling pathway, Type II diabetes mellitus, Hepatitis C, Influenza A Polycythemia vera, Inflammation, Obesity, Allergic reaction, Dermatitis atopic, Psoriasis, Autoimmunity, Skin lesion, Asthma, Diabetes mellitus insulin-dependent, Arthritis, Atherosclerosis, Cancer (carcinoma), Polycystic ovary syndrome (PCOS)
SOD1 Superoxide dismutase 1, soluble Peroxisome, Amyotrophic lateral sclerosis (ALS), Prion diseases Endothelial dysfunction, Cardiovascular diseases
SORBS1 Sorbin and SH3 domain containing 1 PPAR signaling pathway, Adherens junction, Insulin signaling pathway Obesity, Hyperandrogenism
STAT3 Signal transducer and activator of transcription 3 (acute-phase response factor) Chemokine signaling pathway, Jak-STAT signaling pathway, Adipocytokine signaling pathway, Toxoplasmosis, Hepatitis C, Measles, Pathways in cancer, Pancreatic cancer, Acute myeloid leukemia Inflammation, Polycythemia vera, Obesity, Autoimmune diseases, Primary tumor, Cancer (carcinoma), Autoimmunity, Cardiovascular diseases, Psoriasis
STK11 Serine/threonine kinase 11 mTOR signaling pathway, Adipocytokine signaling pathway Ovulatory response
TCF7L2 Transcription factor 7-like 2 (T-cell specific, HMG-box) Diabetes mellitus type 2 , Polycystic ovary syndrome (PCOS), Obesity, Inflammation, Infertility, Hyperandrogenism, Diabetes mellitus, Chronic anovulation, Cardiovascular diseases
TGFB1 Transforming growth factor, beta 1 Polycystic ovary syndrome (PCOS)
TGFB2 Transforming growth factor, beta 2 Polycystic ovary syndrome (PCOS)
TNF Tumor necrosis factor Insulin resistance, Diabetes mellitus type 2 , Obesity, Hypertension, Adipose tissue macrophage (ATM) infiltration, Cardiovascular disease, Low-grade chronic inflammation, Inflammation, Hyperinsulinaemia, Polycystic ovary syndrome (PCOS), Hyperandrogenism
TNFRSF1B Tumor necrosis factor receptor superfamily, member 1B Cytokine-cytokine receptor interaction, Adipocytokine signaling pathway, Amyotrophic lateral sclerosis (ALS) Psoriasis, Arthritis, Multiple sclerosis, Endometriosis, Wasting syndrome, Obesity, Vasculitis, Cardiovascular diseases, Skin lesion, Essential hypertension, Guillain-barre syndrome, Cancer (carcinoma)
TTR Transthyretin Insulin resistance
VDR Vitamin D (1,25- dihydroxyvitamin D3) receptor Endocrine and other factor-regulated calcium reabsorption, Mineral absorption, Tuberculosis HVDDR, Osteoporosis, Hyperparathyroidism, Bone loss, Psoriasis, Autoimmune diseases, Uremia, Calcification, Multiple sclerosis, Diabetes mellitus insulin-dependent, Cardiovascular diseases, Urolithiasis, Cancer (adenoma), Williams syndrome, Cancer (choriocarcinoma), Graves disease, Arthritis, Primary tumor, Asthma, Inflammation, Polycystic ovary syndrome (PCOS)
VEGFA Vascular endothelial growth factor A Polycystic ovary syndrome (PCOS), Ovarian hyperstimulation syndrome (OHSS), Cardiovascular diseases
VWF Von Willebrand factor Focal adhesion, ECM-receptor interaction, Complement and coagulation cascades Von willebrand disease, Purpura thrombotic thrombocytopenic, Hemophilia a, Arterial thrombosis, Thrombocytopenia, Cardiovascular diseases, Inflammation, Thrombocytosis, Venous occlusion, Hemarthrosis, Sclerosis systemic, Raynauds phenomenon, Venous thrombosis, Pulmonary hypertension secondary, Hypofibrinogenemia, Cancer (angiodysplasia), Uremia, Lupus erythematosus systemic, Vasculitis, Arterial occlusive diseases, Stroke, Preeclampsia, Retinopathy, Hyperhomocysteinemia, Hypothyroidism, Cerebral infarction, Factor xii deficiency, Hellp syndrome, Renal disease, Pernicious anemia, Polycystic ovary syndrome (PCOS)
WT1 Wilms tumor 1 Denys-drash syndrome, Frasier syndrome, Wagr syndrome, Mesangial sclerosis, diffuse, Nephrotic syndrome, Glomerulosclerosis, Hypospadias, Cryptorchidism, Cancer (adenoma), Cancer (carcinoma), Hypergonadotropic hypogonadism, Renal failure chronic, Hemihypertrophy, Hernia diaphragmatic, Polycystic ovary syndrome (PCOS)
YAP1 Yes-associated protein 1 Hippo signaling pathway Polycystic ovary syndrome (PCOS)
Signal transduction
ADM Adrenomedullin Polycystic ovary syndrome (PCOS)
AMHR2 anti-Mullerian hormone receptor, type II TGF-beta signaling pathway, Cytokine-cytokine receptor interaction Polycystic ovary syndrome (PCOS)
APLN Apelin Obesity, Cardiovascular diseases, Inflammation, Hypertrophy, Polycystic ovary syndrome (PCOS)
AR Androgen receptor Oocyte meiosis, Pathways in cancer, Prostate cancer Androgen insensitivity syndrome, Virilization, Pseudohermaphroditism, Hypospadias, Azoospermia, Oligozoospermia, Spermatogenesis arrest, Cancer (carcinoma), Infertility, Testicular dysgenesis, Primary amenorrhea, Withdrawal syndrome, Neurodegenerative diseases, Cancer (adenoma), Mental retardation, Obesity, Preeclampsia, Bone loss
C3 Complement component 3 Phagosome, Complement and coagulation cascades, Pertussis, Leishmaniasis, Chagas disease (American trypanosomiasis), Staphylococcus aureus infection, Tuberculosis, Systemic lupus erythematosus Obesity, Inflammation, Atherosclerosis, Vasculitis, Hemolysis, Renal disease, Arthritis, Diabetes mellitus
CCK Cholecystokinin Panic disorder, Chronic pancreatitis, Functional dyspepsia, Anorexia nervosa, Hyperalgesia, Gastrointestinal diseases, Delirium tremens, Apeced, Schizophrenia, Celiac disease, Anxiety disorders, Diabetes mellitus, Psychotic, Alzheimers disease
CCL2 Chemokine (C-C motif) ligand 2 Cytokine-cytokine receptor interaction, Chemokine signaling pathway, NOD-like receptor signaling pathway, Chagas disease (American trypanosomiasis), Malaria, Influenza A, Rheumatoid arthritis Vascular damage and cardiovascular disease, Polycystic ovary syndrome (PCOS), Obesity, Low-grade chronic inflammation, Hyperinsulinism, Hyperglycemia, Hyperandrogenism, Chronic low-level inflammation, Atherogenesis
CD4 CD4 molecule Cell adhesion molecules (CAMs), Antigen processing and presentation, Hematopoietic cell lineage, T cell receptor signaling pathway, Primary immunodeficiency Diabetes mellitus type 2 , Polycystic ovary syndrome (PCOS), Cardiovascular diseases
CGA glycoprotein hormones, alpha polypeptide Neuroactive ligand-receptor interaction, GnRH signaling pathway, Ovarian steroidogenesis, Prolactin signaling pathway, Thyroid hormone synthesis, Autoimmune thyroid disease Polycystic ovary syndrome (PCOS)
CRH Corticotropin releasing hormone Long-term depression Acth deficiency, Major depression, Anxiety disorders, Stress disorders posttraumatic, Anorexia nervosa, Preterm delivery, Psychiatric disorder, Alcoholism, Preeclampsia, Panic disorder, Endocrine disorder, Obesity, Labor premature, Fibromyalgia, Hyperandrogenism, Rheumatoid arthritis, Dementia multi-infarct, Epilepsy frontal lobe, Cancer (choriocarcinoma), Gastrointestinal diseases, Sheehan syndrome, Virilization, Alzheimers disease, Polycystic ovary syndrome (PCOS)
ESR1 Estrogen receptor 1 Endocrine and other factor-regulated calcium reabsorption Spontaneous abortion, Infertility, Endometrial hyperplasia, Abnormal follicular development
ESR2 Estrogen receptor 2 (ER beta) Polycystic ovary syndrome (PCOS), Infertility, Endometrial hyperplasia
FAS Fas cell surface death receptor Polycystic ovary syndrome (PCOS)
FSHB Follicle stimulating hormone, beta polypeptide Neuroactive ligand-receptor interaction, GnRH signaling pathway Infertility, Puberty delayed, Primary amenorrhea, Pituitary tumors, Hypogonadism, Cancer (adenoma), Virilization, Azoospermia
FST Follistatin TGF-beta signaling pathway Polycystic ovaries, Endometriosis, Renal failure chronic, Azoospermia, Inflammation, Liver diseases, Infertility, Atherosclerosis, Miscarriage, Cancer (carcinoma), Polycystic ovary syndrome (PCOS)
GCG Glucagon Diabetes mellitus type 2
GIP Gastric inhibitory polypeptide Diabetes mellitus type 2
GNRH1 Gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) GnRH signaling pathway Polycystic ovaries, Cancer (adenoma), Endocrine disorder, Hypothyroidism juvenile, Virilization, Gonadal dysfunction, Hypothyroidism primary, Central diabetes insipidus
IDE Insulin-degrading enzyme Alzheimers disease, Dementia, Diabetes mellitus, Diabetes gestational, Hyperandrogenism, Acanthosis nigricans, Retinopathy, Anovulation, Rabson-mendenhall syndrome, Autoimmune diseases, Hypogonadism, TCM syndrome, Polycystic ovary syndrome (PCOS), Cardiovascular diseases, Obesity
IGF1 Insulin-like growth factor 1 (somatomedin C) Oocyte meiosis, p53 signaling pathway, mTOR signaling pathway, Focal adhesion, Long-term depression, Progesterone-mediated oocyte maturation, Aldosterone-regulated sodium reabsorption, Pathways in cancer, Glioma, Prostate cancer, Melanoma, Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy Acromegaly, Laron syndrome, Short stature, Cancer (adenoma), Pituitary tumors, Pituitary diseases, Osteoporosis, Obesity, Dwarfism, Rabson-mendenhall syndrome, Hyperandrogenism, Hypertrophy, Diabetes mellitus, Polycystic ovaries, Renal failure chronic, Gigantism, Endocrine disorder, Peho syndrome, Retinopathy, Hypothyroidism, Anovulation, Cardiovascular diseases, Noonan syndrome, Acanthosis nigricans, Uremia, Amyotrophic lateral sclerosis, Cancer (prostate carcinoma), Osteoarthritis, Polycystic ovary syndrome (PCOS), Hypopituitarism, Hyperinsulinism
IGF1R Insulin-like growth factor 1 receptor Oocyte meiosis, Endocytosis, Focal adhesion, Adherens junction, Long-term depression, Progesterone-mediated oocyte maturation, Pathways in cancer, Glioma, Prostate cancer, Melanoma Short stature, Acanthosis nigricans, Polycystic ovaries, Cancer (carcinoma), Primary tumor, Hypertrophy, Micrognathia, Keloid, Atherosclerotic plaque, Polycythemia vera, Development delay
IGF2R Insulin-like growth factor 2 receptor Lysosome Polycystic ovary syndrome (PCOS), Inflammation, Diabetes mellitus, Cardiometabolic disease, Abnormal folliculogenesis
IGFBP1 Insulin-like growth factor binding protein 1 Hyperandrogenism, Diabetes mellitus insulin-dependent, Acromegaly, Obesity, Laron syndrome, Preeclampsia, Polycystic ovaries, Renal failure chronic, Preterm delivery, Diabetes mellitus, Cardiovascular diseases, Endocrine disorder, Hypercortisolemia, Endometriosis, Uremia, Cancer (carcinoma), Stroke, Chronic fatigue syndrome, Atherosclerotic plaque, Bone loss, Polycystic ovary syndrome (PCOS)
IGFBP4 Insulin-like growth factor binding protein 4 Atresia, Bone loss, Renal failure, Hypothyroidism, Hyperthyroidism, Diabetes mellitus, Polycystic ovary syndrome (PCOS)
IL1B Interleukin 1, beta Polycystic ovary syndrome (PCOS), Obesity
INHA Inhibin, alpha Cancer (adenoma), Hydatidiform mole, Ovarian failure premature, Trophoblastic disease, Cancer (carcinoma), Von hippel-lindau disease, Preeclampsia, Autoimmunity, Polycystic ovary syndrome (PCOS)
INSL3 Insulin-like 3 (Leydig cell) Cryptorchidism, Infertility, Hyperandrogenism, Obesity, Cancer (carcinoma)
IRS1 Insulin receptor substrate 1 Neurotrophin signaling pathway, Insulin signaling pathway, Adipocytokine signaling pathway, Type II diabetes mellitus, Aldosterone-regulated sodium reabsorption Diabetes gestational, Diabetes mellitus, Cancer (carcinoma), Coronary heart disease, Liver diseases, Atherosclerosis, Polycystic ovary syndrome (PCOS), Insulin resistance
IRS2 Insulin receptor substrate 2 Neurotrophin signaling pathway, Insulin signaling pathway, Adipocytokine signaling pathway, Type II diabetes mellitus, Aldosterone-regulated sodium reabsorption Obesity, Bone loss age-related, Diabetes gestational, Cancer (carcinoma), Atherosclerosis, Polycystic ovary syndrome (PCOS)
IRS4 Insulin receptor substrate 4 Neurotrophin signaling pathway, Insulin signaling pathway, Adipocytokine signaling pathway, Type II diabetes mellitus, Aldosterone-regulated sodium reabsorption Hyperandrogenism, Polycystic ovary syndrome (PCOS)
LHB Luteinizing hormone beta polypeptide Neuroactive ligand-receptor interaction, GnRH signaling pathway Polycystic ovary syndrome (PCOS)
MAPK1 mitogen-activated protein kinase 1 Oocyte meiosis, mTOR signaling pathway, PI3K-Akt signaling pathway, ErbB signaling pathway, HIF-1 signaling pathway, FoxO signaling pathway, Chemokine signaling pathway, MAPK signaling pathway, Rap1 signaling pathway, Ras signaling pathway, Adrenergic signaling in cardiomyocytes, Vascular smooth muscle contraction, Dorso-ventral axis formation, TGF-beta signaling pathway, Axon guidance, VEGF signaling pathway, Osteoclast differentiation, Focal adhesion, Adherens junction, Gap junction, Toll-like receptor signaling pathway, NOD-like receptor 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, Circadian entrainment, Long-term potentiation, Neurotrophin signaling pathway, Retrograde endocannabinoid signaling, Glutamatergic synapse, Cholinergic synapse, Serotonergic synapse, Long-term depression, Regulation of actin cytoskeleton, Insulin signaling pathway, GnRH signaling pathway, Progesterone-mediated oocyte maturation, Estrogen signaling pathway, Melanogenesis, Prolactin signaling pathway, Thyroid hormone signaling pathway, Oxytocin signaling pathway, Type II diabetes mellitus, Aldosterone-regulated sodium reabsorption, Alzheimers disease, Prion diseases, Alcoholism, Shigellosis, Salmonella infection, Pertussis, Leishmaniasis, Chagas disease (American trypanosomiasis), Toxoplasmosis, Tuberculosis, Hepatitis C, Hepatitis B, Influenza A, Pathways in cancer, Viral carcinogenesis, Proteoglycans in cancer, MicroRNAs in cancer, Colorectal cancer, Renal cell carcinoma, Pancreatic cancer, Endometrial cancer, Glioma, Prostate cancer, Thyroid cancer, Melanoma, Bladder cancer, Chronic myeloid leukemia, Acute myeloid leukemia, Non-small cell lung cancer Hyperinsulinemia., Polycystic ovary syndrome (PCOS)
NAMPT Nicotinamide phosphoribosyltransferase Nicotinate and nicotinamide metabolism Inflammation, Cardiovascular diseases, Diabetes mellitus, Renal disease, Rheumatoid arthritis, Cancer, Polycystic ovary syndrome (PCOS), Obesity, Low-grade chronic inflammation, Endothelial dysfunction, Atherosclerosis
NR3C1 Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) Neuroactive ligand-receptor interaction Obesity, XY partial gonadal dysgenesis, XX primary ovarian insufficiency, Secondary amenorrhea, Primary Ovarian Insufficiency (POI), Primary amenorrhea, Premature ovarian failure (POF), Infertility, 46 XY disorder of sex development, Polycystic ovary syndrome (PCOS)
PECAM1 platelet/endothelial cell adhesion molecule 1 Endothelial dysfunction, Polycystic ovary syndrome (PCOS)
PGR Progesterone receptor Oocyte meiosis, Progesterone-mediated oocyte maturation Infertility
POMC Proopiomelanocortin Melanogenesis, Adipocytokine signaling pathway Cushing syndrome, Acth syndrome ectopic, Cancer (adenoma), Obesity, Major depression, Endocrine disorder, Cancer (carcinoma), Hypothyroidism, Alcoholism, Vitiligo, Central diabetes insipidus, Polycystic ovary syndrome (PCOS), Insulin resistance, Adrenal androgen excess
PPARG Peroxisome proliferator-activated receptor gamma PPAR signaling pathway, Osteoclast differentiation, Pathways in cancer, Thyroid cancer Polycystic ovary syndrome (PCOS)
STAT3 Signal transducer and activator of transcription 3 (acute-phase response factor) Chemokine signaling pathway, Jak-STAT signaling pathway, Adipocytokine signaling pathway, Toxoplasmosis, Hepatitis C, Measles, Pathways in cancer, Pancreatic cancer, Acute myeloid leukemia Inflammation, Polycythemia vera, Obesity, Autoimmune diseases, Primary tumor, Cancer (carcinoma), Autoimmunity, Cardiovascular diseases, Psoriasis
VDR Vitamin D (1,25- dihydroxyvitamin D3) receptor Endocrine and other factor-regulated calcium reabsorption, Mineral absorption, Tuberculosis HVDDR, Osteoporosis, Hyperparathyroidism, Bone loss, Psoriasis, Autoimmune diseases, Uremia, Calcification, Multiple sclerosis, Diabetes mellitus insulin-dependent, Cardiovascular diseases, Urolithiasis, Cancer (adenoma), Williams syndrome, Cancer (choriocarcinoma), Graves disease, Arthritis, Primary tumor, Asthma, Inflammation, Polycystic ovary syndrome (PCOS)
Extracellular space
ACE Angiotensin I converting enzyme Renin-angiotensin system, Chagas disease (American trypanosomiasis), Hypertrophic cardiomyopathy (HCM) Albuminuria, Aldosteronism secondary, Atrial fibrillation, Cardiovascular diseases, Cerebrovascular disease, Diabetes mellitus, Dyslipidemia, Erythrocytosis, Essential hypertension, Glomerulosclerosis, Infarct, Nephrotic syndrome, Renal disease, Renovascular, Restenosis, Retinopathy, Sarcoidosis pulmonary, Sclerosis systemic, Stroke, Vascular diseases, Ventricular dilatation, Ventricular dysfunction, Ventricular hypertrophy
ADIPOQ Adiponectin, C1Q and collagen domain containing PPAR signaling pathway, Adipocytokine signaling pathway, Type II diabetes mellitus Obesity, Cardiovascular diseases, Dyslipidemia, Inflammation, Liver diseases, Diabetes gestational, Diabetes mellitus, Vascular diseases, Anorexia nervosa, Renal disease, Preeclampsia, Apnea sleep, Albuminuria, Hypercholesterolemia, Arteriosclerosis, Proteinuria, Growth hormone deficiency, Ventricular hypertrophy, Cancer (endometrial cancer), Acromegaly, Arthritis, Asthma, Psychotic, Endometriosis, Major depression, Polycystic ovary syndrome (PCOS)
ADM Adrenomedullin Polycystic ovary syndrome (PCOS)
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39) Amino sugar and nucleotide sugar metabolism Abnormal glucose tolerance
EDN1 Endothelin 1 Melanogenesis Polycystic ovary syndrome (PCOS), Insulin resistance, Hyperinsulinism, Hyperandrogenism, Endothelial dysfunction, Dyslipidemia, Cardiovascular diseases
ENPP1 Ectonucleotide pyrophosphatase/phosphodiesterase 1 Purine metabolism, Starch and sucrose metabolism, Riboflavin metabolism, Nicotinate and nicotinamide metabolism, Pantothenate and CoA biosynthesis, Metabolic pathways Polycystic ovary syndrome (PCOS)
F3 Coagulation factor III (thromboplastin, tissue factor) Complement and coagulation cascades Atherothrombosis
FLT1 Fms-related tyrosine kinase 1 Cytokine-cytokine receptor interaction, Endocytosis, Focal adhesion, Rheumatoid arthritis Preeclampsia, Intrauterine growth retardation, Corneal diseases, Retinopathy, Choroidal neovascularization, Inflammation, Arthritis, Psoriasis, Placental insufficiency, Cancer (carcinoma), Renal failure, Asthma, Menorrhagia, Atherosclerosis, Hypertension pulmonary, Polycystic ovary syndrome (PCOS)
GH1 Growth hormone 1 Cytokine-cytokine receptor interaction, Neuroactive ligand-receptor interaction, Jak-STAT signaling pathway Acromegaly, Acth deficiency, Pituitary diseases, Gigantism, Endocrine disorder, Anorexia nervosa, Hypothyroidism, Cushing syndrome, Hyperthyroidism, Vipoma, Hyperandrogenism, Diabetes mellitus, Osteoporosis, Acth syndrome ectopic, Cancer (choriocarcinoma), Marasmus
GHR Growth hormone receptor Cytokine-cytokine receptor interaction, Neuroactive ligand-receptor interaction, Jak-STAT signaling pathway Laron syndrome, Acromegaly, Obesity, Cancer (adenoma), Diabetes mellitus insulin-dependent, Uremia, Hypothyroidism, Diabetes mellitus, Hyperthyroidism, Cancer (carcinoma), Actinic keratosis, Stroke
GHRL Ghrelin/obestatin prepropeptide Obesity, Prader-willi syndrome, Bulimia nervosa, Acromegaly, Functional dyspepsia, Endocrine effects, Hypercortisolism, Cancer (adenoma), Hypogonadism, Inflammation, Anovulation, Hyperthyroidism, Cardiovascular diseases, Hypothyroidism, Polycystic ovaries, Diabetes mellitus, Hypopituitarism, Wasting syndrome, Gastrointestinal diseases, Alcoholism, Arthritis, Celiac disease, Epilepsy, Cancer (carcinoma), Hypertrophy, Anorexia nervosa, Polycystic ovary syndrome (PCOS), Insulin resistance, Hyperandrogenism, Endothelial dysfunction, Atherosclerosis
HMOX1 Heme oxygenase (decycling) 1 Porphyrin and chlorophyll metabolism, Mineral absorption Insulin resistance
HP Haptoglobin Polycystic ovary syndrome (PCOS), Obesity, Chronic inflammation
IGFBP2 Insulin-like growth factor binding protein 2, 36kDa Polycystic ovary syndrome (PCOS), Atresia
IGFBP3 Insulin-like growth factor binding protein 3 p53 signaling pathway Laron syndrome, Acromegaly, Rabson-mendenhall syndrome, Gigantism pituitary, Hyperandrogenism, Acquired hypothyroidism, Noonan syndrome, Osteoporosis, Marasmus, Anorexia nervosa, Hypothyroidism, Bone loss, Cancer (carcinoma), Diabetes mellitus, Dwarfism, Ovarian failure premature, Werner syndrome, Cancer (adenoma), Retinopathy, Perthes disease, Anovulation, Preeclampsia, Erythrocytosis, Atresia, Sotos syndrome, Liver dysfunction, Cardiovascular diseases, Polycystic ovary syndrome (PCOS)
IL1A Interleukin 1, alpha Inflammation, Psoriasis, Arthritis, Cancer (middle ear cholesteatoma), Cysts, Acantholysis, Skin diseases, Hypercalcemia, Alzheimers disease, Autoimmune diseases, Acne vulgaris, Sclerosis systemic, Lung diseases interstitial, Gingivitis, Fibrosis idiopathic pulmonary, Endometriosis, Pemphigus vulgaris, Alopecia areata, Fatty liver alcoholic, Cancer (adenoma), Thyroid diseases
IL1B Interleukin 1, beta Polycystic ovary syndrome (PCOS), Obesity
IL5 Interleukin 5 Inflammation
IL6ST Interleukin 6 signal transducer Cytokine-cytokine receptor interaction, Jak-STAT signaling pathway Polycystic ovary syndrome (PCOS)
INS Insulin Oocyte meiosis, Regulation of autophagy, mTOR signaling pathway, Regulation of actin cytoskeleton, Insulin signaling pathway, Progesterone-mediated oocyte maturation, Type II diabetes mellitus, Type I diabetes mellitus, Maturity onset diabetes of the young, Aldosterone-regulated sodium reabsorption, Prostate cancer Hyperinsulinism, Dyslipidaemia, Insulin secretion, Obesity, Acanthosis nigricans, Androgen Excess, Cardiovascular disease, Polycystic ovary syndrome (PCOS), Hyperandrogenemia , Hyperandrogenism
LIF Leukemia inhibitory factor Cytokine-cytokine receptor interaction, Jak-STAT signaling pathway Abortion, Infertility, Inflammation, Thrombocytosis, Pregnancy loss, Endometriosis, Retinal vascular, Glomerulonephritis mesangial proliferative, Alzheimers disease, Primary tumor, Allergy, Heart failure, Arthritis, Atherosclerosis, Renal disease, Cysts, Multiple sclerosis, Langerhans cell histiocytosis, Dermatitis, Hypercalcemia, Cancer (adenoma)
LIPC Lipase, hepatic Glycerolipid metabolism, Metabolic pathways Atherosclerosis, Hyperlipidemia, Hyperlipoproteinemia, Cardiovascular diseases, Hypothyroidism, Stroke, Diabetes mellitus insulin-dependent, Liver diseases, Vascular diseases, Calcification, Preeclampsia, Polycystic ovary syndrome (PCOS)
LPL Lipoprotein lipase Glycerolipid metabolism, PPAR signaling pathway Hyperandrogenism
MEP1A meprin A, alpha (PABA peptide hydrolase) Protein digestion and absorption Polycystic ovary syndrome (PCOS)
MMP2 Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) Leukocyte transendothelial migration, GnRH signaling pathway, Pathways in cancer, Bladder cancer Polycystic ovary syndrome (PCOS), Hyperandrogenism, Follicular atresia, Chronic low-grade inflammation, Atherothrombosis
MMP9 Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) Leukocyte transendothelial migration, Pathways in cancer, Bladder cancer Polycystic ovary syndrome (PCOS), Hyperandrogenism, Follicular atresia, Chronic low-grade inflammation, Atherothrombosis
NPPB Natriuretic peptide B Cardiac risk
PECAM1 platelet/endothelial cell adhesion molecule 1 Endothelial dysfunction, Polycystic ovary syndrome (PCOS)
PIBF1 Progesterone immunomodulatory binding factor 1 Polycystic ovary syndrome (PCOS)
POMC Proopiomelanocortin Melanogenesis, Adipocytokine signaling pathway Cushing syndrome, Acth syndrome ectopic, Cancer (adenoma), Obesity, Major depression, Endocrine disorder, Cancer (carcinoma), Hypothyroidism, Alcoholism, Vitiligo, Central diabetes insipidus, Polycystic ovary syndrome (PCOS), Insulin resistance, Adrenal androgen excess
PON1 Paraoxonase 1 Metabolic pathways Atherosclerosis, Cardiovascular diseases, Diabetes mellitus, Hypercholesterolemia, Dyslipidemia, Renal failure chronic, Hyperhomocysteinemia, Antiphospholipid syndrome, Liver damage, Alzheimers disease, Stroke, Lupus erythematosus systemic, Preeclampsia, Obesity, Retinopathy, Uremia, Infertility, Parkinson disease, Ischemia, Asthma, Cancer, Artery stenosis, Nephrotic syndrome, Autistic, Cerebrovascular disease, Behcet disease, Rheumatoid arthritis, Glomerulonephritis, Polycystic ovary syndrome (PCOS)
REN renin Renin-angiotensin system Polycystic ovary syndrome (PCOS), Insulin resistance, Infertility
SERPINC1 Serpin peptidase inhibitor, clade C (antithrombin), member 1 Complement and coagulation cascades Insulin resistance, Polycystic ovary syndrome (PCOS)
SERPINE1 Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 Chagas disease (American trypanosomiasis), Complement and coagulation cascades, Hippo signaling pathway, p53 signaling pathway, HIF-1 signaling pathway Venous occlusion, Inflammation, Preeclampsia, Arterial thrombosis, Hepatic veno-occlusive disease, Essential hypertension, Renal disease, Stroke, Hypercholesterolemia, Diabetes mellitus, Hyperlipidemia, Arteriosclerosis, Ovarian tumor benign, Albuminuria, Chronic glomerulonephritis, Retinopathy, Thromboembolism pulmonary, Liver fibrosis, Cerebral infarction, Pulmonary fibrosis, Cancer (breast carcinoma), Spontaneous miscarriage, Recurrent pregnancy loss, Polycystic ovary syndrome (PCOS), Miscarriage, Insulin resistance, Hypofibrinolysis, Hypertriglyceridemia, Hyperinsulinism, Hyperandrogenism, Diabetes, Anovulation, Cardiovascular diseases, Obesity
SOD1 Superoxide dismutase 1, soluble Peroxisome, Amyotrophic lateral sclerosis (ALS), Prion diseases Endothelial dysfunction, Cardiovascular diseases
SST somatostatin Gastric acid secretion Polycystic ovary syndrome (PCOS)
TGFB1 Transforming growth factor, beta 1 Polycystic ovary syndrome (PCOS)
TNF Tumor necrosis factor Insulin resistance, Diabetes mellitus type 2 , Obesity, Hypertension, Adipose tissue macrophage (ATM) infiltration, Cardiovascular disease, Low-grade chronic inflammation, Inflammation, Hyperinsulinaemia, Polycystic ovary syndrome (PCOS), Hyperandrogenism
TNFRSF11B Tumor necrosis factor receptor superfamily, member 11b Cytokine-cytokine receptor interaction, Osteoclast differentiation Proinflammatory state, Insulin resistance, Endothelial dysfunction
Nucleus
AKR1C3 aldo-keto reductase family 1, member C3 Ovarian steroidogenesis, Metabolic pathways, Arachidonic acid metabolism, Steroid hormone biosynthesis Hyperandrogenism, Polycystic ovary syndrome (PCOS)
APC Adenomatous polyposis coli Wnt signaling pathway, Regulation of actin cytoskeleton, Pathways in cancer, Colorectal cancer, Endometrial cancer, Basal cell carcinoma Polycystic ovary syndrome (PCOS)
AR Androgen receptor Oocyte meiosis, Pathways in cancer, Prostate cancer Androgen insensitivity syndrome, Virilization, Pseudohermaphroditism, Hypospadias, Azoospermia, Oligozoospermia, Spermatogenesis arrest, Cancer (carcinoma), Infertility, Testicular dysgenesis, Primary amenorrhea, Withdrawal syndrome, Neurodegenerative diseases, Cancer (adenoma), Mental retardation, Obesity, Preeclampsia, Bone loss
BAX BCL2-associated X protein Polycystic ovary syndrome (PCOS), Endometrial hyperplasia
ESR1 Estrogen receptor 1 Endocrine and other factor-regulated calcium reabsorption Spontaneous abortion, Infertility, Endometrial hyperplasia, Abnormal follicular development
ESR2 Estrogen receptor 2 (ER beta) Polycystic ovary syndrome (PCOS), Infertility, Endometrial hyperplasia
FLT1 Fms-related tyrosine kinase 1 Cytokine-cytokine receptor interaction, Endocytosis, Focal adhesion, Rheumatoid arthritis Preeclampsia, Intrauterine growth retardation, Corneal diseases, Retinopathy, Choroidal neovascularization, Inflammation, Arthritis, Psoriasis, Placental insufficiency, Cancer (carcinoma), Renal failure, Asthma, Menorrhagia, Atherosclerosis, Hypertension pulmonary, Polycystic ovary syndrome (PCOS)
FTO Fat mass and obesity associated Diabetes mellitus type 2 , Polycystic ovary syndrome (PCOS), Obesity, Hyperandrogenism
GATA6 GATA binding protein 6 Adrenal tumor, Cancer (carcinoma)
GSK3B Glycogen synthase kinase 3 beta ErbB signaling pathway, Chemokine signaling pathway, Cell cycle, Wnt signaling pathway, Hedgehog signaling pathway, Axon guidance, Focal adhesion, T cell receptor signaling pathway, B cell receptor signaling pathway, Neurotrophin signaling pathway, Insulin signaling pathway, Melanogenesis, Hepatitis C, Measles, Influenza A, Pathways in cancer, Colorectal cancer, Endometrial cancer, Prostate cancer, Basal cell carcinoma Senile plaques, Dementia, Parkinson disease, Cancer (carcinoma), Polycystic ovary syndrome (PCOS)
IGFBP3 Insulin-like growth factor binding protein 3 p53 signaling pathway Laron syndrome, Acromegaly, Rabson-mendenhall syndrome, Gigantism pituitary, Hyperandrogenism, Acquired hypothyroidism, Noonan syndrome, Osteoporosis, Marasmus, Anorexia nervosa, Hypothyroidism, Bone loss, Cancer (carcinoma), Diabetes mellitus, Dwarfism, Ovarian failure premature, Werner syndrome, Cancer (adenoma), Retinopathy, Perthes disease, Anovulation, Preeclampsia, Erythrocytosis, Atresia, Sotos syndrome, Liver dysfunction, Cardiovascular diseases, Polycystic ovary syndrome (PCOS)
LMNA Lamin A/C Hypertrophic cardiomyopathy (HCM), Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated cardiomyopathy Progeria, Lgmd1b, Cancer (mandibuloacral dysplasia), Lipodystrophy, Muscular dystrophies, Werner syndrome, Charcot-marie-tooth disease, Myopathy, Cardiomyopathy, Dyslipidemia, Arrhythmia, Hypertrophy, Atrial fibrillation, Obesity, Growth retardation, Atrophy, Cancer (metaplasia), Ventricular dysfunction left, Calcification, Cancer (carcinoma), Diabetes mellitus, Polycystic ovary syndrome (PCOS), Insulin resistance
MAPK1 mitogen-activated protein kinase 1 Oocyte meiosis, mTOR signaling pathway, PI3K-Akt signaling pathway, ErbB signaling pathway, HIF-1 signaling pathway, FoxO signaling pathway, Chemokine signaling pathway, MAPK signaling pathway, Rap1 signaling pathway, Ras signaling pathway, Adrenergic signaling in cardiomyocytes, Vascular smooth muscle contraction, Dorso-ventral axis formation, TGF-beta signaling pathway, Axon guidance, VEGF signaling pathway, Osteoclast differentiation, Focal adhesion, Adherens junction, Gap junction, Toll-like receptor signaling pathway, NOD-like receptor 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, Circadian entrainment, Long-term potentiation, Neurotrophin signaling pathway, Retrograde endocannabinoid signaling, Glutamatergic synapse, Cholinergic synapse, Serotonergic synapse, Long-term depression, Regulation of actin cytoskeleton, Insulin signaling pathway, GnRH signaling pathway, Progesterone-mediated oocyte maturation, Estrogen signaling pathway, Melanogenesis, Prolactin signaling pathway, Thyroid hormone signaling pathway, Oxytocin signaling pathway, Type II diabetes mellitus, Aldosterone-regulated sodium reabsorption, Alzheimers disease, Prion diseases, Alcoholism, Shigellosis, Salmonella infection, Pertussis, Leishmaniasis, Chagas disease (American trypanosomiasis), Toxoplasmosis, Tuberculosis, Hepatitis C, Hepatitis B, Influenza A, Pathways in cancer, Viral carcinogenesis, Proteoglycans in cancer, MicroRNAs in cancer, Colorectal cancer, Renal cell carcinoma, Pancreatic cancer, Endometrial cancer, Glioma, Prostate cancer, Thyroid cancer, Melanoma, Bladder cancer, Chronic myeloid leukemia, Acute myeloid leukemia, Non-small cell lung cancer Hyperinsulinemia., Polycystic ovary syndrome (PCOS)
NCOR1 Nuclear receptor corepressor 1 Cancer (carcinoma), Polycystic ovary syndrome (PCOS)
NR5A1 nuclear receptor subfamily 5, group A, member 1 Polycystic ovary syndrome (PCOS), Chronic anovulation, Infertility
PGRMC1 Progesterone receptor membrane component 1 Premature ovarian failure (POF)
PIBF1 Progesterone immunomodulatory binding factor 1 Polycystic ovary syndrome (PCOS)
PPARD Peroxisome proliferator-activated receptor delta PPAR signaling pathway, Wnt signaling pathway, Pathways in cancer, Acute myeloid leukemia Polycystic ovary syndrome (PCOS)
PPARGC1A Peroxisome proliferator-activated receptor gamma, coactivator 1 alpha Insulin signaling pathway, Adipocytokine signaling pathway Obesity, Dyslipidemia, Inflammation, Cardiovascular diseases, Diabetes mellitus, Cancer (adenoma), Alzheimers disease, Restenosis, Pulmonary fibrosis, Pituitary tumors, Edema, Bone loss, Renal disease, Multiple sclerosis, Cancer (carcinoma papillary), Chronic obstructive asthma, Liver diseases, Hyperinsulinism, Polycystic ovary syndrome (PCOS)
S100A12 Peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
SORBS1 Sorbin and SH3 domain containing 1 PPAR signaling pathway, Adherens junction, Insulin signaling pathway Obesity, Hyperandrogenism
TCF7L2 Transcription factor 7-like 2 (T-cell specific, HMG-box) Diabetes mellitus type 2 , Polycystic ovary syndrome (PCOS), Obesity, Inflammation, Infertility, Hyperandrogenism, Diabetes mellitus, Chronic anovulation, Cardiovascular diseases
TGFB1 Transforming growth factor, beta 1 Polycystic ovary syndrome (PCOS)
VDR Vitamin D (1,25- dihydroxyvitamin D3) receptor Endocrine and other factor-regulated calcium reabsorption, Mineral absorption, Tuberculosis HVDDR, Osteoporosis, Hyperparathyroidism, Bone loss, Psoriasis, Autoimmune diseases, Uremia, Calcification, Multiple sclerosis, Diabetes mellitus insulin-dependent, Cardiovascular diseases, Urolithiasis, Cancer (adenoma), Williams syndrome, Cancer (choriocarcinoma), Graves disease, Arthritis, Primary tumor, Asthma, Inflammation, Polycystic ovary syndrome (PCOS)
WT1 Wilms tumor 1 Denys-drash syndrome, Frasier syndrome, Wagr syndrome, Mesangial sclerosis, diffuse, Nephrotic syndrome, Glomerulosclerosis, Hypospadias, Cryptorchidism, Cancer (adenoma), Cancer (carcinoma), Hypergonadotropic hypogonadism, Renal failure chronic, Hemihypertrophy, Hernia diaphragmatic, Polycystic ovary syndrome (PCOS)
YAP1 Yes-associated protein 1 Hippo signaling pathway Polycystic ovary syndrome (PCOS)
Integral to plasma membrane
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 ABC transporters, Fat digestion and absorption Alzheimers disease, Amyloid deposition, Cardiovascular diseases, Dyslipidemia, Hypercholesterolemia, Inflammation, Obesity, Polycystic ovary syndrome (PCOS), Renal disease, Stroke, Tangier disease, Xanthomatosis
ACVR1 Activin A receptor, type I Cytokine-cytokine receptor interaction, TGF-beta signaling pathway Fibrodysplasia ossificans progressiva, Ossification heterotopic, Inflammation, Cancer, Polycystic ovary syndrome (PCOS)
ADRB2 Adrenoceptor beta 2, surface Calcium signaling pathway, Neuroactive ligand-receptor interaction, Endocytosis, Salivary secretion Insulin resistance
ADRB3 Adrenoceptor beta 3 Calcium signaling pathway, Neuroactive ligand-receptor interaction, Endocytosis, Salivary secretion Hyperandrogenism, Polycystic ovary syndrome (PCOS)
AGER Advanced glycosylation end product-specific receptor Diabetes mellitus, Inflammation, Vascular diseases, Retinopathy, Renal disease, Glomerulosclerosis, Senile plaques, Cardiovascular diseases, Uremia, Amyloidosis, Dementia, Essential hypertension, Restenosis, Preeclampsia, Cancer, Polycystic ovary syndrome (PCOS)
AQP9 Aquaporin 9 Bile secretion Edema
C9 complement component 9 Complement and coagulation cascades, Prion diseases, Amoebiasis, Systemic lupus erythematosus Polycystic ovary syndrome (PCOS)
CASR Calcium-sensing receptor Nshpt, Hypercalcemia, Bartters syndrome, Bone diseases, Calcification, Apeced, Osteoporosis, Hypomagnesemia, Vitamin D deficiency, Renal failure chronic, Cancer (adenoma), Diabetes insipidus nephrogenic, Hypokalemia, Deafness sensorineural, Chronic pancreatitis, Autoimmunity, Diabetes mellitus, Autoimmune diseases, Cataract, Atherosclerosis, Cancer (carcinoma), Polycystic ovary syndrome (PCOS)
CD28 CD28 molecule Diabetes mellitus type 2 , Coronary instability
CD36 CD36 molecule (thrombospondin receptor) PPAR signaling pathway, Phagosome, ECM-receptor interaction, Hematopoietic cell lineage, Adipocytokine signaling pathway, Fat digestion and absorption, Malaria Atherosclerosis, Inflammation, Hypertrophy, Cancer (pancreatic cancer), Polycystic ovary syndrome (PCOS)
CD40LG CD40 ligand Polycystic ovary syndrome (PCOS)
DRD2 Dopamine receptor D2 Neuroactive ligand-receptor interaction, Gap junction Alcoholism, Hyperprolactinemia, Psychotic, Tourette syndrome, Pituitary tumors, Movement disorders, Attention-deficit hyperactivity disorder, Bipolar disorder, Antisocial disorder, Striatonigral degeneration, Huntington disease, Chronic schizophrenia, Migraine, Cognitive deficit, Wilson disease, Narcolepsy, Obesity, Stress disorders posttraumatic, Conduct disorder, Ataxia telangiectasia, Mental retardation, Alzheimers disease, Cancer (carcinoma), Anxiety disorders, Personality disorders, Aggressive behavior
GHR Growth hormone receptor Cytokine-cytokine receptor interaction, Neuroactive ligand-receptor interaction, Jak-STAT signaling pathway Laron syndrome, Acromegaly, Obesity, Cancer (adenoma), Diabetes mellitus insulin-dependent, Uremia, Hypothyroidism, Diabetes mellitus, Hyperthyroidism, Cancer (carcinoma), Actinic keratosis, Stroke
GNRHR Gonadotropin-releasing hormone receptor Neuroactive ligand-receptor interaction, GnRH signaling pathway Polycystic ovary syndrome (PCOS)
HFE Hemochromatosis Insulin resistance, Inflammation, Hyperandrogenism
HLA-A Major histocompatibility complex, class I, A Endocytosis, Phagosome, Cell adhesion molecules (CAMs), Antigen processing and presentation, Natural killer cell mediated cytotoxicity, Type I diabetes mellitus, Autoimmune thyroid disease, Allograft rejection, Graft-versus-host disease, Viral myocarditis Diabetes mellitus insulin-dependent, Celiac disease, Psoriasis, Graves disease, Endometriosis, Primary tumor, Autoimmunity, Cancer (carcinoma), Multiple sclerosis
HLA-DQA1 Major histocompatibility complex, class II, DQ alpha 1 Phagosome, Cell adhesion molecules (CAMs), Antigen processing and presentation, Intestinal immune network for IgA production, Type I diabetes mellitus, Leishmaniasis, Toxoplasmosis, Staphylococcus aureus infection, Tuberculosis, Influenza A, Asthma, Autoimmune thyroid disease, Systemic lupus erythematosus, Rheumatoid arthritis, Allograft rejection, Graft-versus-host disease, Viral myocarditis Diabetes mellitus insulin-dependent, Autoimmune diseases, Arthritis juvenile rheumatoid, Lupus erythematosus systemic, Asthma, Multiple sclerosis
HLA-DRB1 Major histocompatibility complex, class II, DR beta 1 Phagosome, Cell adhesion molecules (CAMs), Antigen processing and presentation, Hematopoietic cell lineage, Intestinal immune network for IgA production, Type I diabetes mellitus, Leishmaniasis, Toxoplasmosis, Staphylococcus aureus infection, Tuberculosis, Influenza A, Asthma, Autoimmune thyroid disease, Systemic lupus erythematosus, Rheumatoid arthritis, Allograft rejection, Graft-versus-host disease, Viral myocarditis Diabetes mellitus insulin-dependent, Vogt-koyanagi-harada disease, Autoimmunity, Multiple sclerosis, Narcolepsy, Arthritis, Lupus erythematosus systemic, Pemphigus vulgaris, Graves disease, Alzheimers disease, Purpura thrombocytopenic idiopathic, Asthma, Schizophrenia, Dilated cardiomyopathy, Cirrhosis, Allergy, Diabetes mellitus, Psoriasis
IGF1R Insulin-like growth factor 1 receptor Oocyte meiosis, Endocytosis, Focal adhesion, Adherens junction, Long-term depression, Progesterone-mediated oocyte maturation, Pathways in cancer, Glioma, Prostate cancer, Melanoma Short stature, Acanthosis nigricans, Polycystic ovaries, Cancer (carcinoma), Primary tumor, Hypertrophy, Micrognathia, Keloid, Atherosclerotic plaque, Polycythemia vera, Development delay
IGF2R Insulin-like growth factor 2 receptor Lysosome Polycystic ovary syndrome (PCOS), Inflammation, Diabetes mellitus, Cardiometabolic disease, Abnormal folliculogenesis
INSR Insulin receptor Adherens junction, Insulin signaling pathway, Type II diabetes mellitus, Aldosterone-regulated sodium reabsorption Rabson-mendenhall syndrome, Acanthosis nigricans, Obesity, Hyperandrogenism, Diabetes mellitus, Myotonic dystrophy, Dyslipidemia, Fatty liver, Werner syndrome, Skin lesion, Hyperthyroidism, Cancer (adenoma), Cancer (carcinoma), Parkinson disease, Schizophrenia, Retinopathy, Hypertension arterial, Autoimmunity, Polycystic ovary syndrome (PCOS)
MEP1A meprin A, alpha (PABA peptide hydrolase) Protein digestion and absorption Polycystic ovary syndrome (PCOS)
MTNR1A Melatonin receptor 1A Neuroactive ligand-receptor interaction Alzheimers disease, Polycystic ovary syndrome (PCOS), Insulin resistance
MTNR1B Melatonin receptor 1B Neuroactive ligand-receptor interaction Scoliosis idiopathic, Polycystic ovary syndrome (PCOS)
MUC1 Mucin 1, cell surface associated Essential hypertension, Cardiovascular diseases, Vitreoretinopathy proliferative, Cancer (adenoma), Preeclampsia, Hypotension, Ischemia, Aldosteronism primary, Inflammation, Adrenal tumor, Arteriosclerosis, Kawasaki disease, Nephrotic syndrome minimal change, Stroke, Lung diseases, Schizophrenia, Cancer (anaplastic astrocytoma), Chronic kidney disease, Arrhythmia, Thrombosis, Asthma, Retinopathy, Ventricular hypertrophy, Cerebrovascular disease, Hyperthyroidism, Endometrial infertility
TNF Tumor necrosis factor Insulin resistance, Diabetes mellitus type 2 , Obesity, Hypertension, Adipose tissue macrophage (ATM) infiltration, Cardiovascular disease, Low-grade chronic inflammation, Inflammation, Hyperinsulinaemia, Polycystic ovary syndrome (PCOS), Hyperandrogenism
TPO Thyroid peroxidase Tyrosine metabolism, Metabolic pathways, Cytokine-cytokine receptor interaction, Jak-STAT signaling pathway, Hematopoietic cell lineage, Autoimmune thyroid disease Autoimmune thyroiditis
Cell-cell signaling
ADM Adrenomedullin Polycystic ovary syndrome (PCOS)
AGT Angiotensinogen (serpin peptidase inhibitor, clade A, member 8) Renin-angiotensin system Hypertension arterial, Renal disease, Cardiovascular diseases, Preeclampsia, Glomerulosclerosis, Ventricular hypertrophy, Vesicoureteral reflux, Microalbuminuria, Renovascular, Edema, Diabetes mellitus, Nephrotic syndrome, Retinopathy, Stroke, Diabetes mellitus insulin-dependent, Hypercholesterolemia
AMH Anti-Mullerian hormone Cytokine-cytokine receptor interaction, TGF-beta signaling pathway Pseudohermaphroditism, Cryptorchidism, Azoospermia, Puberty precocious, Cancer (aplasia), Secondary amenorrhea, Polycystic ovary syndrome (PCOS), Obesity, Menstrual irregularities, Insulin resistance, Endometriosis, Infertility, Hyperandrogenism
AR Androgen receptor Oocyte meiosis, Pathways in cancer, Prostate cancer Androgen insensitivity syndrome, Virilization, Pseudohermaphroditism, Hypospadias, Azoospermia, Oligozoospermia, Spermatogenesis arrest, Cancer (carcinoma), Infertility, Testicular dysgenesis, Primary amenorrhea, Withdrawal syndrome, Neurodegenerative diseases, Cancer (adenoma), Mental retardation, Obesity, Preeclampsia, Bone loss
CGA glycoprotein hormones, alpha polypeptide Neuroactive ligand-receptor interaction, GnRH signaling pathway, Ovarian steroidogenesis, Prolactin signaling pathway, Thyroid hormone synthesis, Autoimmune thyroid disease Polycystic ovary syndrome (PCOS)
EDN1 Endothelin 1 Melanogenesis Polycystic ovary syndrome (PCOS), Insulin resistance, Hyperinsulinism, Hyperandrogenism, Endothelial dysfunction, Dyslipidemia, Cardiovascular diseases
ESR2 Estrogen receptor 2 (ER beta) Polycystic ovary syndrome (PCOS), Infertility, Endometrial hyperplasia
GHRH Growth hormone releasing hormone Acromegaly, Vipoma, Cancer (adenoma), Pituitary tumors, Zollinger-ellison syndrome, Hypothyroidism, Endocrine disorder, Cushing syndrome, Diabetes mellitus insulin-dependent, Renal failure chronic, Hyperthyroidism, Cancer (carcinoma)
GNRH1 Gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) GnRH signaling pathway Polycystic ovaries, Cancer (adenoma), Endocrine disorder, Hypothyroidism juvenile, Virilization, Gonadal dysfunction, Hypothyroidism primary, Central diabetes insipidus
IL18 Interleukin 18 Cytokine-cytokine receptor interaction, NOD-like receptor signaling pathway, Cytosolic DNA-sensing pathway, African trypanosomiasis, Malaria, Tuberculosis, Influenza A, Rheumatoid arthritis Diabetes mellitus type 2 , Obesity, Hyperandrogenism, Coronary heart disease, Atherosclerosis
IL1B Interleukin 1, beta Polycystic ovary syndrome (PCOS), Obesity
INHA Inhibin, alpha Cancer (adenoma), Hydatidiform mole, Ovarian failure premature, Trophoblastic disease, Cancer (carcinoma), Von hippel-lindau disease, Preeclampsia, Autoimmunity, Polycystic ovary syndrome (PCOS)
INHBA Inhibin, beta A Cytokine-cytokine receptor interaction, TGF-beta signaling pathway Follicle arrest
INS Insulin Oocyte meiosis, Regulation of autophagy, mTOR signaling pathway, Regulation of actin cytoskeleton, Insulin signaling pathway, Progesterone-mediated oocyte maturation, Type II diabetes mellitus, Type I diabetes mellitus, Maturity onset diabetes of the young, Aldosterone-regulated sodium reabsorption, Prostate cancer Hyperinsulinism, Dyslipidaemia, Insulin secretion, Obesity, Acanthosis nigricans, Androgen Excess, Cardiovascular disease, Polycystic ovary syndrome (PCOS), Hyperandrogenemia , Hyperandrogenism
INSL3 Insulin-like 3 (Leydig cell) Cryptorchidism, Infertility, Hyperandrogenism, Obesity, Cancer (carcinoma)
LHB Luteinizing hormone beta polypeptide Neuroactive ligand-receptor interaction, GnRH signaling pathway Polycystic ovary syndrome (PCOS)
NAMPT Nicotinamide phosphoribosyltransferase Nicotinate and nicotinamide metabolism Inflammation, Cardiovascular diseases, Diabetes mellitus, Renal disease, Rheumatoid arthritis, Cancer, Polycystic ovary syndrome (PCOS), Obesity, Low-grade chronic inflammation, Endothelial dysfunction, Atherosclerosis
NR5A1 nuclear receptor subfamily 5, group A, member 1 Polycystic ovary syndrome (PCOS), Chronic anovulation, Infertility
PGR Progesterone receptor Oocyte meiosis, Progesterone-mediated oocyte maturation Infertility
POMC Proopiomelanocortin Melanogenesis, Adipocytokine signaling pathway Cushing syndrome, Acth syndrome ectopic, Cancer (adenoma), Obesity, Major depression, Endocrine disorder, Cancer (carcinoma), Hypothyroidism, Alcoholism, Vitiligo, Central diabetes insipidus, Polycystic ovary syndrome (PCOS), Insulin resistance, Adrenal androgen excess
PTH Parathyroid hormone Hypercalcemia, Parathyroid diseases, Osteoporosis, Bone loss, Calcification, Uremia, Cardiovascular diseases, Polycystic ovary syndrome (PCOS)
PYY Peptide YY Pancreatic islet adaptation to insulin resistance, Low-grade chronic inflammation, Endothelial dysfunction, Atherosclerosis, Obesity
SRD5A2 Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) Steroid hormone biosynthesis, Prostate cancer Virilization, Pseudohermaphroditism, Hypospadias, Gynecomastia, Polycystic ovary syndrome (PCOS)
SST somatostatin Gastric acid secretion Polycystic ovary syndrome (PCOS)
TGFB2 Transforming growth factor, beta 2 Polycystic ovary syndrome (PCOS)
Receptor binding
ADIPOQ Adiponectin, C1Q and collagen domain containing PPAR signaling pathway, Adipocytokine signaling pathway, Type II diabetes mellitus Obesity, Cardiovascular diseases, Dyslipidemia, Inflammation, Liver diseases, Diabetes gestational, Diabetes mellitus, Vascular diseases, Anorexia nervosa, Renal disease, Preeclampsia, Apnea sleep, Albuminuria, Hypercholesterolemia, Arteriosclerosis, Proteinuria, Growth hormone deficiency, Ventricular hypertrophy, Cancer (endometrial cancer), Acromegaly, Arthritis, Asthma, Psychotic, Endometriosis, Major depression, Polycystic ovary syndrome (PCOS)
ADM Adrenomedullin Polycystic ovary syndrome (PCOS)
AMH Anti-Mullerian hormone Cytokine-cytokine receptor interaction, TGF-beta signaling pathway Pseudohermaphroditism, Cryptorchidism, Azoospermia, Puberty precocious, Cancer (aplasia), Secondary amenorrhea, Polycystic ovary syndrome (PCOS), Obesity, Menstrual irregularities, Insulin resistance, Endometriosis, Infertility, Hyperandrogenism
APLN Apelin Obesity, Cardiovascular diseases, Inflammation, Hypertrophy, Polycystic ovary syndrome (PCOS)
AR Androgen receptor Oocyte meiosis, Pathways in cancer, Prostate cancer Androgen insensitivity syndrome, Virilization, Pseudohermaphroditism, Hypospadias, Azoospermia, Oligozoospermia, Spermatogenesis arrest, Cancer (carcinoma), Infertility, Testicular dysgenesis, Primary amenorrhea, Withdrawal syndrome, Neurodegenerative diseases, Cancer (adenoma), Mental retardation, Obesity, Preeclampsia, Bone loss
C3 Complement component 3 Phagosome, Complement and coagulation cascades, Pertussis, Leishmaniasis, Chagas disease (American trypanosomiasis), Staphylococcus aureus infection, Tuberculosis, Systemic lupus erythematosus Obesity, Inflammation, Atherosclerosis, Vasculitis, Hemolysis, Renal disease, Arthritis, Diabetes mellitus
CCL2 Chemokine (C-C motif) ligand 2 Cytokine-cytokine receptor interaction, Chemokine signaling pathway, NOD-like receptor signaling pathway, Chagas disease (American trypanosomiasis), Malaria, Influenza A, Rheumatoid arthritis Vascular damage and cardiovascular disease, Polycystic ovary syndrome (PCOS), Obesity, Low-grade chronic inflammation, Hyperinsulinism, Hyperglycemia, Hyperandrogenism, Chronic low-level inflammation, Atherogenesis
CRH Corticotropin releasing hormone Long-term depression Acth deficiency, Major depression, Anxiety disorders, Stress disorders posttraumatic, Anorexia nervosa, Preterm delivery, Psychiatric disorder, Alcoholism, Preeclampsia, Panic disorder, Endocrine disorder, Obesity, Labor premature, Fibromyalgia, Hyperandrogenism, Rheumatoid arthritis, Dementia multi-infarct, Epilepsy frontal lobe, Cancer (choriocarcinoma), Gastrointestinal diseases, Sheehan syndrome, Virilization, Alzheimers disease, Polycystic ovary syndrome (PCOS)
GCG Glucagon Diabetes mellitus type 2
HFE Hemochromatosis Insulin resistance, Inflammation, Hyperandrogenism
HLA-A Major histocompatibility complex, class I, A Endocytosis, Phagosome, Cell adhesion molecules (CAMs), Antigen processing and presentation, Natural killer cell mediated cytotoxicity, Type I diabetes mellitus, Autoimmune thyroid disease, Allograft rejection, Graft-versus-host disease, Viral myocarditis Diabetes mellitus insulin-dependent, Celiac disease, Psoriasis, Graves disease, Endometriosis, Primary tumor, Autoimmunity, Cancer (carcinoma), Multiple sclerosis
INHA Inhibin, alpha Cancer (adenoma), Hydatidiform mole, Ovarian failure premature, Trophoblastic disease, Cancer (carcinoma), Von hippel-lindau disease, Preeclampsia, Autoimmunity, Polycystic ovary syndrome (PCOS)
INSL3 Insulin-like 3 (Leydig cell) Cryptorchidism, Infertility, Hyperandrogenism, Obesity, Cancer (carcinoma)
LHB Luteinizing hormone beta polypeptide Neuroactive ligand-receptor interaction, GnRH signaling pathway Polycystic ovary syndrome (PCOS)
LIF Leukemia inhibitory factor Cytokine-cytokine receptor interaction, Jak-STAT signaling pathway Abortion, Infertility, Inflammation, Thrombocytosis, Pregnancy loss, Endometriosis, Retinal vascular, Glomerulonephritis mesangial proliferative, Alzheimers disease, Primary tumor, Allergy, Heart failure, Arthritis, Atherosclerosis, Renal disease, Cysts, Multiple sclerosis, Langerhans cell histiocytosis, Dermatitis, Hypercalcemia, Cancer (adenoma)
LPL Lipoprotein lipase Glycerolipid metabolism, PPAR signaling pathway Hyperandrogenism
MIF Macrophage migration inhibitory factor (glycosylation-inhibiting factor) Tyrosine metabolism, Phenylalanine metabolism Inflammation, Arthritis, Autoimmune diseases, Glomerulonephritis, Endometriosis, Aggressiveness, Acute respiratory distress, Atherosclerosis, Allergic reaction, Infertility, Anemia, Acute pancreatitis, Dermatitis atopic, Skin lesion, Cardiovascular diseases, Asthma, Gastrointestinal diseases, Cancer (metaplasia), Autoimmunity, Atopy, Cancer (adenoma), Alzheimers disease, Multiple sclerosis, Polycystic ovary syndrome (PCOS), Obesity, Insulin resistance
NPPB Natriuretic peptide B Cardiac risk
NPY Neuropeptide Y Adipocytokine signaling pathway Epilepsy, Essential hypertension, Cardiovascular diseases, Major depression, Alzheimers disease, Vitiligo, Stress disorders posttraumatic, Diabetes mellitus, Delirium tremens, Autoimmunity, Schizophrenia, Fibromyalgia, Renal disease, Diabetes mellitus insulin-dependent, Osteoporosis, Seizures febrile, Von hippel-lindau disease, Cerebral ischemia, Cancer (breast carcinoma), Respiratory failure, Ascites, Gastrointestinal diseases, Cancer (carcinoma), Inflammation, Hypertrophy, Cancer (adenoma), Celiac disease, Low-grade chronic inflammation, Insulin resistance, Endothelial dysfunction, Atherosclerosis, Obesity, Anorexia nervosa, Bulimia nervosa, Neuroendocrine tumors
PGR Progesterone receptor Oocyte meiosis, Progesterone-mediated oocyte maturation Infertility
POMC Proopiomelanocortin Melanogenesis, Adipocytokine signaling pathway Cushing syndrome, Acth syndrome ectopic, Cancer (adenoma), Obesity, Major depression, Endocrine disorder, Cancer (carcinoma), Hypothyroidism, Alcoholism, Vitiligo, Central diabetes insipidus, Polycystic ovary syndrome (PCOS), Insulin resistance, Adrenal androgen excess
REN renin Renin-angiotensin system Polycystic ovary syndrome (PCOS), Insulin resistance, Infertility
SERPINE1 Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 Chagas disease (American trypanosomiasis), Complement and coagulation cascades, Hippo signaling pathway, p53 signaling pathway, HIF-1 signaling pathway Venous occlusion, Inflammation, Preeclampsia, Arterial thrombosis, Hepatic veno-occlusive disease, Essential hypertension, Renal disease, Stroke, Hypercholesterolemia, Diabetes mellitus, Hyperlipidemia, Arteriosclerosis, Ovarian tumor benign, Albuminuria, Chronic glomerulonephritis, Retinopathy, Thromboembolism pulmonary, Liver fibrosis, Cerebral infarction, Pulmonary fibrosis, Cancer (breast carcinoma), Spontaneous miscarriage, Recurrent pregnancy loss, Polycystic ovary syndrome (PCOS), Miscarriage, Insulin resistance, Hypofibrinolysis, Hypertriglyceridemia, Hyperinsulinism, Hyperandrogenism, Diabetes, Anovulation, Cardiovascular diseases, Obesity
TGFB2 Transforming growth factor, beta 2 Polycystic ovary syndrome (PCOS)
Cytoplasm
ADM Adrenomedullin Polycystic ovary syndrome (PCOS)
AKR1C3 aldo-keto reductase family 1, member C3 Ovarian steroidogenesis, Metabolic pathways, Arachidonic acid metabolism, Steroid hormone biosynthesis Hyperandrogenism, Polycystic ovary syndrome (PCOS)
APC Adenomatous polyposis coli Wnt signaling pathway, Regulation of actin cytoskeleton, Pathways in cancer, Colorectal cancer, Endometrial cancer, Basal cell carcinoma Polycystic ovary syndrome (PCOS)
APOE Apolipoprotein E Insulin resistance, Inflammation, Hypertriglyceridaemia, Hyperandrogenism, Atherosclerosis
AR Androgen receptor Oocyte meiosis, Pathways in cancer, Prostate cancer Androgen insensitivity syndrome, Virilization, Pseudohermaphroditism, Hypospadias, Azoospermia, Oligozoospermia, Spermatogenesis arrest, Cancer (carcinoma), Infertility, Testicular dysgenesis, Primary amenorrhea, Withdrawal syndrome, Neurodegenerative diseases, Cancer (adenoma), Mental retardation, Obesity, Preeclampsia, Bone loss
EDN1 Endothelin 1 Melanogenesis Polycystic ovary syndrome (PCOS), Insulin resistance, Hyperinsulinism, Hyperandrogenism, Endothelial dysfunction, Dyslipidemia, Cardiovascular diseases
FABP4 Fatty acid binding protein 4, adipocyte PPAR signaling pathway Obesity, Atherosclerosis, Cardiovascular diseases, Inflammation, Cancer
FLT1 Fms-related tyrosine kinase 1 Cytokine-cytokine receptor interaction, Endocytosis, Focal adhesion, Rheumatoid arthritis Preeclampsia, Intrauterine growth retardation, Corneal diseases, Retinopathy, Choroidal neovascularization, Inflammation, Arthritis, Psoriasis, Placental insufficiency, Cancer (carcinoma), Renal failure, Asthma, Menorrhagia, Atherosclerosis, Hypertension pulmonary, Polycystic ovary syndrome (PCOS)
FMR1 Fragile X mental retardation 1 Fragile x syndrome, Mental retardation, Neurodegenerative diseases, Developmental disabilities, Ovarian dysfunction, Spinocerebellar ataxias, Movement disorders, Myotonic dystrophy, Menstrual irregularity, Short stature, Autoimmune diseases, Hypothyroidism, Psychiatric disorder, Schizophrenia, Epilepsy, Parkinson disease, Polycystic ovary syndrome (PCOS)
FSHB Follicle stimulating hormone, beta polypeptide Neuroactive ligand-receptor interaction, GnRH signaling pathway Infertility, Puberty delayed, Primary amenorrhea, Pituitary tumors, Hypogonadism, Cancer (adenoma), Virilization, Azoospermia
GNAQ Guanine nucleotide binding protein (G protein), q polypeptide Calcium signaling pathway, Vascular smooth muscle contraction, Gap junction, Long-term potentiation, Glutamatergic synapse, Cholinergic synapse, Long-term depression, GnRH signaling pathway, Melanogenesis, Endocrine and other factor-regulated calcium reabsorption, Salivary secretion, Gastric acid secretion, Pancreatic secretion, Chagas disease (American trypanosomiasis), African trypanosomiasis, Amoebiasis Cardiac hypertrophy
GSK3B Glycogen synthase kinase 3 beta ErbB signaling pathway, Chemokine signaling pathway, Cell cycle, Wnt signaling pathway, Hedgehog signaling pathway, Axon guidance, Focal adhesion, T cell receptor signaling pathway, B cell receptor signaling pathway, Neurotrophin signaling pathway, Insulin signaling pathway, Melanogenesis, Hepatitis C, Measles, Influenza A, Pathways in cancer, Colorectal cancer, Endometrial cancer, Prostate cancer, Basal cell carcinoma Senile plaques, Dementia, Parkinson disease, Cancer (carcinoma), Polycystic ovary syndrome (PCOS)
GSTM1 Glutathione S-transferase mu 1 Glutathione metabolism, Metabolism of xenobiotics by cytochrome P450, Drug metabolism - cytochrome P450 Endometriosis, Asbestosis, Anemia aplastic, Renal disease, Cancer (carcinoma), Alzheimers disease, Cleft lip, Primary tumor, Cystic fibrosis, Polycystic ovary syndrome (PCOS)
GSTM3 Glutathione S-transferase mu 3 (brain) Glutathione metabolism, Metabolism of xenobiotics by cytochrome P450, Drug metabolism - cytochrome P450 Visceral adiposity, Insulin resistance
LMNA Lamin A/C Hypertrophic cardiomyopathy (HCM), Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated cardiomyopathy Progeria, Lgmd1b, Cancer (mandibuloacral dysplasia), Lipodystrophy, Muscular dystrophies, Werner syndrome, Charcot-marie-tooth disease, Myopathy, Cardiomyopathy, Dyslipidemia, Arrhythmia, Hypertrophy, Atrial fibrillation, Obesity, Growth retardation, Atrophy, Cancer (metaplasia), Ventricular dysfunction left, Calcification, Cancer (carcinoma), Diabetes mellitus, Polycystic ovary syndrome (PCOS), Insulin resistance
PLAT plasminogen activator, tissue Transcriptional misregulation in cancer, Complement and coagulation cascades Polycystic ovary syndrome (PCOS)
PRDX2 Peroxiredoxin 2 Visceral adiposity, Diabetes mellitus type 2
S100A12 Peroxiredoxin 2
SORBS1 Sorbin and SH3 domain containing 1 PPAR signaling pathway, Adherens junction, Insulin signaling pathway Obesity, Hyperandrogenism
STK11 Serine/threonine kinase 11 mTOR signaling pathway, Adipocytokine signaling pathway Ovulatory response
TGFB1 Transforming growth factor, beta 1 Polycystic ovary syndrome (PCOS)
VEGFA Vascular endothelial growth factor A Polycystic ovary syndrome (PCOS), Ovarian hyperstimulation syndrome (OHSS), Cardiovascular diseases
YAP1 Yes-associated protein 1 Hippo signaling pathway Polycystic ovary syndrome (PCOS)
G-protein coupled receptor protein signaling pathway
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 ABC transporters, Fat digestion and absorption Alzheimers disease, Amyloid deposition, Cardiovascular diseases, Dyslipidemia, Hypercholesterolemia, Inflammation, Obesity, Polycystic ovary syndrome (PCOS), Renal disease, Stroke, Tangier disease, Xanthomatosis
AGT Angiotensinogen (serpin peptidase inhibitor, clade A, member 8) Renin-angiotensin system Hypertension arterial, Renal disease, Cardiovascular diseases, Preeclampsia, Glomerulosclerosis, Ventricular hypertrophy, Vesicoureteral reflux, Microalbuminuria, Renovascular, Edema, Diabetes mellitus, Nephrotic syndrome, Retinopathy, Stroke, Diabetes mellitus insulin-dependent, Hypercholesterolemia
AKR1C3 aldo-keto reductase family 1, member C3 Ovarian steroidogenesis, Metabolic pathways, Arachidonic acid metabolism, Steroid hormone biosynthesis Hyperandrogenism, Polycystic ovary syndrome (PCOS)
AKT1 V-akt murine thymoma viral oncogene homolog 1 Uterine leiomyomas and endometriosis, Endometrial hyperplasia
APOA1 Apolipoprotein A-I PPAR signaling pathway, Fat digestion and absorption, Vitamin digestion and absorption, African trypanosomiasis Obesity, Insulin resistance, Hyperandrogenism, Dyslipidemia, Coronary heart disease
APOE Apolipoprotein E Insulin resistance, Inflammation, Hypertriglyceridaemia, Hyperandrogenism, Atherosclerosis
C3 Complement component 3 Phagosome, Complement and coagulation cascades, Pertussis, Leishmaniasis, Chagas disease (American trypanosomiasis), Staphylococcus aureus infection, Tuberculosis, Systemic lupus erythematosus Obesity, Inflammation, Atherosclerosis, Vasculitis, Hemolysis, Renal disease, Arthritis, Diabetes mellitus
CASR Calcium-sensing receptor Nshpt, Hypercalcemia, Bartters syndrome, Bone diseases, Calcification, Apeced, Osteoporosis, Hypomagnesemia, Vitamin D deficiency, Renal failure chronic, Cancer (adenoma), Diabetes insipidus nephrogenic, Hypokalemia, Deafness sensorineural, Chronic pancreatitis, Autoimmunity, Diabetes mellitus, Autoimmune diseases, Cataract, Atherosclerosis, Cancer (carcinoma), Polycystic ovary syndrome (PCOS)
CCL2 Chemokine (C-C motif) ligand 2 Cytokine-cytokine receptor interaction, Chemokine signaling pathway, NOD-like receptor signaling pathway, Chagas disease (American trypanosomiasis), Malaria, Influenza A, Rheumatoid arthritis Vascular damage and cardiovascular disease, Polycystic ovary syndrome (PCOS), Obesity, Low-grade chronic inflammation, Hyperinsulinism, Hyperglycemia, Hyperandrogenism, Chronic low-level inflammation, Atherogenesis
EDN1 Endothelin 1 Melanogenesis Polycystic ovary syndrome (PCOS), Insulin resistance, Hyperinsulinism, Hyperandrogenism, Endothelial dysfunction, Dyslipidemia, Cardiovascular diseases
FSHR Follicle stimulating hormone receptor Neuroactive ligand-receptor interaction Primary amenorrhea, Resistant ovary syndrome, Infertility, Secondary amenorrhea, Puberty precocious, Azoospermia, Gonadal dysfunction, Polycystic ovaries, Ovarian diseases, Epithelial tumor, Hypothyroidism, Endometriosis, Anovulation, Obesity, Hyperthyroidism, Cancer (carcinoma), Polycystic ovary syndrome (PCOS)
GCG Glucagon Diabetes mellitus type 2
GHRL Ghrelin/obestatin prepropeptide Obesity, Prader-willi syndrome, Bulimia nervosa, Acromegaly, Functional dyspepsia, Endocrine effects, Hypercortisolism, Cancer (adenoma), Hypogonadism, Inflammation, Anovulation, Hyperthyroidism, Cardiovascular diseases, Hypothyroidism, Polycystic ovaries, Diabetes mellitus, Hypopituitarism, Wasting syndrome, Gastrointestinal diseases, Alcoholism, Arthritis, Celiac disease, Epilepsy, Cancer (carcinoma), Hypertrophy, Anorexia nervosa, Polycystic ovary syndrome (PCOS), Insulin resistance, Hyperandrogenism, Endothelial dysfunction, Atherosclerosis
GNRHR Gonadotropin-releasing hormone receptor Neuroactive ligand-receptor interaction, GnRH signaling pathway Polycystic ovary syndrome (PCOS)
INS Insulin Oocyte meiosis, Regulation of autophagy, mTOR signaling pathway, Regulation of actin cytoskeleton, Insulin signaling pathway, Progesterone-mediated oocyte maturation, Type II diabetes mellitus, Type I diabetes mellitus, Maturity onset diabetes of the young, Aldosterone-regulated sodium reabsorption, Prostate cancer Hyperinsulinism, Dyslipidaemia, Insulin secretion, Obesity, Acanthosis nigricans, Androgen Excess, Cardiovascular disease, Polycystic ovary syndrome (PCOS), Hyperandrogenemia , Hyperandrogenism
INSR Insulin receptor Adherens junction, Insulin signaling pathway, Type II diabetes mellitus, Aldosterone-regulated sodium reabsorption Rabson-mendenhall syndrome, Acanthosis nigricans, Obesity, Hyperandrogenism, Diabetes mellitus, Myotonic dystrophy, Dyslipidemia, Fatty liver, Werner syndrome, Skin lesion, Hyperthyroidism, Cancer (adenoma), Cancer (carcinoma), Parkinson disease, Schizophrenia, Retinopathy, Hypertension arterial, Autoimmunity, Polycystic ovary syndrome (PCOS)
LHCGR Luteinizing hormone/choriogonadotropin receptor Calcium signaling pathway, Neuroactive ligand-receptor interaction Primary amenorrhea, Pseudohermaphroditism, Virilization, Hypogonadism, Infertility, Cancer (adenoma), Azoospermia, Cancer (carcinoma), Anovulation, Polycystic ovary syndrome (PCOS)
PTH Parathyroid hormone Hypercalcemia, Parathyroid diseases, Osteoporosis, Bone loss, Calcification, Uremia, Cardiovascular diseases, Polycystic ovary syndrome (PCOS)
PYY Peptide YY Pancreatic islet adaptation to insulin resistance, Low-grade chronic inflammation, Endothelial dysfunction, Atherosclerosis, Obesity
SST somatostatin Gastric acid secretion Polycystic ovary syndrome (PCOS)
Protein homodimerization activity
ACVR1 Activin A receptor, type I Cytokine-cytokine receptor interaction, TGF-beta signaling pathway Fibrodysplasia ossificans progressiva, Ossification heterotopic, Inflammation, Cancer, Polycystic ovary syndrome (PCOS)
ADIPOQ Adiponectin, C1Q and collagen domain containing PPAR signaling pathway, Adipocytokine signaling pathway, Type II diabetes mellitus Obesity, Cardiovascular diseases, Dyslipidemia, Inflammation, Liver diseases, Diabetes gestational, Diabetes mellitus, Vascular diseases, Anorexia nervosa, Renal disease, Preeclampsia, Apnea sleep, Albuminuria, Hypercholesterolemia, Arteriosclerosis, Proteinuria, Growth hormone deficiency, Ventricular hypertrophy, Cancer (endometrial cancer), Acromegaly, Arthritis, Asthma, Psychotic, Endometriosis, Major depression, Polycystic ovary syndrome (PCOS)
ADRB2 Adrenoceptor beta 2, surface Calcium signaling pathway, Neuroactive ligand-receptor interaction, Endocytosis, Salivary secretion Insulin resistance
ADRB3 Adrenoceptor beta 3 Calcium signaling pathway, Neuroactive ligand-receptor interaction, Endocytosis, Salivary secretion Hyperandrogenism, Polycystic ovary syndrome (PCOS)
APOE Apolipoprotein E Insulin resistance, Inflammation, Hypertriglyceridaemia, Hyperandrogenism, Atherosclerosis
BAX BCL2-associated X protein Polycystic ovary syndrome (PCOS), Endometrial hyperplasia
CD4 CD4 molecule Cell adhesion molecules (CAMs), Antigen processing and presentation, Hematopoietic cell lineage, T cell receptor signaling pathway, Primary immunodeficiency Diabetes mellitus type 2 , Polycystic ovary syndrome (PCOS), Cardiovascular diseases
ENPP1 Ectonucleotide pyrophosphatase/phosphodiesterase 1 Purine metabolism, Starch and sucrose metabolism, Riboflavin metabolism, Nicotinate and nicotinamide metabolism, Pantothenate and CoA biosynthesis, Metabolic pathways Polycystic ovary syndrome (PCOS)
GHR Growth hormone receptor Cytokine-cytokine receptor interaction, Neuroactive ligand-receptor interaction, Jak-STAT signaling pathway Laron syndrome, Acromegaly, Obesity, Cancer (adenoma), Diabetes mellitus insulin-dependent, Uremia, Hypothyroidism, Diabetes mellitus, Hyperthyroidism, Cancer (carcinoma), Actinic keratosis, Stroke
GSTM1 Glutathione S-transferase mu 1 Glutathione metabolism, Metabolism of xenobiotics by cytochrome P450, Drug metabolism - cytochrome P450 Endometriosis, Asbestosis, Anemia aplastic, Renal disease, Cancer (carcinoma), Alzheimers disease, Cleft lip, Primary tumor, Cystic fibrosis, Polycystic ovary syndrome (PCOS)
GSTM3 Glutathione S-transferase mu 3 (brain) Glutathione metabolism, Metabolism of xenobiotics by cytochrome P450, Drug metabolism - cytochrome P450 Visceral adiposity, Insulin resistance
HMOX1 Heme oxygenase (decycling) 1 Porphyrin and chlorophyll metabolism, Mineral absorption Insulin resistance
IDE Insulin-degrading enzyme Alzheimers disease, Dementia, Diabetes mellitus, Diabetes gestational, Hyperandrogenism, Acanthosis nigricans, Retinopathy, Anovulation, Rabson-mendenhall syndrome, Autoimmune diseases, Hypogonadism, TCM syndrome, Polycystic ovary syndrome (PCOS), Cardiovascular diseases, Obesity
IL6ST Interleukin 6 signal transducer Cytokine-cytokine receptor interaction, Jak-STAT signaling pathway Polycystic ovary syndrome (PCOS)
INHBB Inhibin, beta B Cytokine-cytokine receptor interaction, TGF-beta signaling pathway Polycystic ovary syndrome (PCOS), Ovarian dysfunction, Insulin resistance, Hypogonadotropic amenorrhea, Hyperandrogenism, Follicle arrest
PON1 Paraoxonase 1 Metabolic pathways Atherosclerosis, Cardiovascular diseases, Diabetes mellitus, Hypercholesterolemia, Dyslipidemia, Renal failure chronic, Hyperhomocysteinemia, Antiphospholipid syndrome, Liver damage, Alzheimers disease, Stroke, Lupus erythematosus systemic, Preeclampsia, Obesity, Retinopathy, Uremia, Infertility, Parkinson disease, Ischemia, Asthma, Cancer, Artery stenosis, Nephrotic syndrome, Autistic, Cerebrovascular disease, Behcet disease, Rheumatoid arthritis, Glomerulonephritis, Polycystic ovary syndrome (PCOS)
SOD1 Superoxide dismutase 1, soluble Peroxisome, Amyotrophic lateral sclerosis (ALS), Prion diseases Endothelial dysfunction, Cardiovascular diseases
TGFB2 Transforming growth factor, beta 2 Polycystic ovary syndrome (PCOS)
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1 Pentose and glucuronate interconversions, Ascorbate and aldarate metabolism, Steroid hormone biosynthesis, Starch and sucrose metabolism, Other types of O-glycan biosynthesis, Retinol metabolism, Porphyrin and chlorophyll metabolism, Metabolism of xenobiotics by cytochrome P450, Drug metabolism - cytochrome P450, Drug metabolism - other enzymes, Metabolic pathways Gilberts syndrome, Crigler-najjar syndrome, Hyperbilirubinemia, Kernicterus, Cholelithiasis, Hemolysis, Cancer, Liver diseases, Solid tumor, Polycystic ovary syndrome (PCOS)
VWF Von Willebrand factor Focal adhesion, ECM-receptor interaction, Complement and coagulation cascades Von willebrand disease, Purpura thrombotic thrombocytopenic, Hemophilia a, Arterial thrombosis, Thrombocytopenia, Cardiovascular diseases, Inflammation, Thrombocytosis, Venous occlusion, Hemarthrosis, Sclerosis systemic, Raynauds phenomenon, Venous thrombosis, Pulmonary hypertension secondary, Hypofibrinogenemia, Cancer (angiodysplasia), Uremia, Lupus erythematosus systemic, Vasculitis, Arterial occlusive diseases, Stroke, Preeclampsia, Retinopathy, Hyperhomocysteinemia, Hypothyroidism, Cerebral infarction, Factor xii deficiency, Hellp syndrome, Renal disease, Pernicious anemia, Polycystic ovary syndrome (PCOS)

 

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