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1 to 1 of 1 Ontology terms
Ontology term Gene (Gene Symbol) Gene Name Pathways Associated Diseases
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
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)
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)
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
ADIPOR1 Adiponectin receptor 1 Adipocytokine signaling pathway Obesity, Diabetes gestational, Anorexia nervosa, Cardiovascular diseases, Cancer, 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)
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)
ESR1 Estrogen receptor 1 Endocrine and other factor-regulated calcium reabsorption Spontaneous abortion, Infertility, Endometrial hyperplasia, Abnormal follicular development
HFE Hemochromatosis Insulin resistance, Inflammation, Hyperandrogenism
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)
S100A12 Insulin receptor substrate 2
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
SORBS1 Sorbin and SH3 domain containing 1 PPAR signaling pathway, Adherens junction, Insulin signaling pathway Obesity, Hyperandrogenism
STS Steroid sulfatase (microsomal), isozyme S Steroid hormone biosynthesis Steroid metabolism
Nucleolus
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)
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)
PGR Progesterone receptor Oocyte meiosis, Progesterone-mediated oocyte maturation Infertility
PGRMC1 Progesterone receptor membrane component 1 Premature ovarian failure (POF)
SORBS1 Sorbin and SH3 domain containing 1 PPAR signaling pathway, Adherens junction, Insulin signaling pathway Obesity, Hyperandrogenism
Intracellular membrane-bounded organelle
APOB Apolipoprotein B Fat digestion and absorption, Vitamin digestion and absorption Polycystic ovary syndrome (PCOS), Obesity, Metabolic syndrome, Insulin resistance, Hyperprolactinemia, Hyperandrogenism, Dyslipidemia, Cardiovascular diseases, Atherosclerosis
AQP9 Aquaporin 9 Bile secretion Edema
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
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
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
PGR Progesterone receptor Oocyte meiosis, Progesterone-mediated oocyte maturation Infertility
POR P450 (cytochrome) oxidoreductase Antley-bixler syndrome, Virilization, Cancer (carcinoma), Congenital malformation, Antley-Bixler skeletal malformation
STS Steroid sulfatase (microsomal), isozyme S Steroid hormone biosynthesis Steroid metabolism
Cytosol
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
FAS Fas cell surface death receptor Polycystic ovary syndrome (PCOS)
GSTT1 Glutathione S-transferase theta 1 Glutathione metabolism, Metabolism of xenobiotics by cytochrome P450, Drug metabolism - cytochrome P450 Anemia aplastic, Asthma, Hearing loss noise-induced, Bladder tumors, Xeroderma pigmentosum, Motor neuron disease, Alzheimers disease, Inflammation, Cataract, Infertility, Rheumatoid arthritis, Allergic reaction, Cancer (carcinoma), Coronary heart disease, 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
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
S100A12 Nicotinamide phosphoribosyltransferase
Endoplasmic reticulum membrane
BAX BCL2-associated X protein Polycystic ovary syndrome (PCOS), Endometrial hyperplasia
CYP17A1 Cytochrome P450, family 17, subfamily A, polypeptide 1 Steroid hormone biosynthesis, Metabolic pathways Antley-bixler syndrome, Cancer (adenoma), Primary amenorrhea, Polycystic ovaries, Virilization, Pseudohermaphroditism, Adrenal tumor, Apeced, Aldosteronism primary, Endometriosis, Hypospadias, Rheumatoid arthritis, Cancer (carcinoma), Polycystic ovary syndrome (PCOS), Hyperinsulinism, Hyperandrogenism
CYP3A7 Cytochrome P450, family 3, subfamily A, polypeptide 7 Steroid hormone biosynthesis, Linoleic acid metabolism, Retinol metabolism, Metabolism of xenobiotics by cytochrome P450, Drug metabolism - cytochrome P450, Drug metabolism - other enzymes, Metabolic pathways Polycystic ovary syndrome (PCOS)
HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase Terpenoid backbone biosynthesis, Metabolic pathways, Bile secretion Cardiovascular diseases, Diabetes mellitus, Heart failure congestive, Arthropathy, Autoimmunity, Eosinophilia, Venous thrombosis, Skin diseases
HSD11B1 Hydroxysteroid (11-beta) dehydrogenase 1 Steroid hormone biosynthesis, Metabolic pathways, Aldosterone-regulated sodium reabsorption Anovulation, Cushing syndrome, Acth deficiency, Dyslipidemia, Cancer (adenoma), Inflammation, Cardiovascular diseases, Osteoporosis, Lipodystrophy, Diabetes mellitus, Obesity, 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)
Mitochondrion
BAX BCL2-associated X protein Polycystic ovary syndrome (PCOS), Endometrial hyperplasia
CYP11B2 Cytochrome P450, family 11, subfamily B, polypeptide 2 Steroid hormone biosynthesis, Metabolic pathways Aldosteronism primary, Essential hypertension, Cancer (adenoma), Liddles syndrome, Hyperkalemia, Cardiovascular diseases, Ventricular hypertrophy, Proteinuria, Atrial fibrillation, Preeclampsia
ESR2 Estrogen receptor 2 (ER beta) Polycystic ovary syndrome (PCOS), Infertility, Endometrial hyperplasia
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)
SOD1 Superoxide dismutase 1, soluble Peroxisome, Amyotrophic lateral sclerosis (ALS), Prion diseases Endothelial dysfunction, Cardiovascular diseases
STK11 Serine/threonine kinase 11 mTOR signaling pathway, Adipocytokine signaling pathway Ovulatory response
Endoplasmic reticulum
BAX BCL2-associated X protein Polycystic ovary syndrome (PCOS), Endometrial hyperplasia
CYP19A1 Cytochrome P450, family 19, subfamily A, polypeptide 1 Steroid hormone biosynthesis, Metabolic pathways Polycystic ovary syndrome (PCOS), Endometriosis, Gynecomastia, Virilization, Bone loss, Osteoporosis, Infertility, Antley-bixler syndrome, Polycystic ovaries, Hyperandrogenism, Primary amenorrhea, Short stature, Cancer (carcinoma), Endocrine disorder
HSD3B2 Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 Steroid hormone biosynthesis, Metabolic pathways Pseudohermaphroditism, Virilization, Cancer (prostate cancer), Polycystic ovary syndrome (PCOS)
PGRMC1 Progesterone receptor membrane component 1 Premature ovarian failure (POF)
STS Steroid sulfatase (microsomal), isozyme S Steroid hormone biosynthesis Steroid metabolism
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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