GO:0005634

Ontology term Gene (Gene Symbol) Gene Name Pathways Associated Diseases
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ACTB Actin beta Rap1 signaling pathway, Phagosome, Apoptosis, Hippo signaling pathway, Focal adhesion, Adherens junction, Tight junction, Platelet activation, Leukocyte transendothelial migration, Thermogenesis, Regulation of actin cytoskeleton, Thyroid hormone signaling pathway, Oxytocin signaling pathway, Gastric acid secretion, Bacterial invasion of epithelial cells, Vibrio cholerae infection, Pathogenic Escherichia coli infection, Shigellosis, Salmonella infection, Yersinia infection, Influenza A, Proteoglycans in cancer, Hepatocellular carcinoma, Hypertrophic cardiomyopathy (HCM), Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated cardiomyopathy (DCM), Viral myocarditis, Fluid shear stress and atherosclerosis, Gap junction degradation, Formation of annular gap junctions, Regulation of actin dynamics for phagocytic cup formation, EPHB-mediated forward signaling, EPH-ephrin mediated repulsion of cells, Adherens junctions interactions, Recycling pathway of L1, VEGFA-VEGFR2 Pathway, Interaction between L1 and Ankyrins, Cell-extracellular matrix interactions, B-WICH complex positively regulates rRNA expression, RHO GTPases activate IQGAPs, RHO GTPases Activate WASPs and WAVEs, RHO GTPases Activate Formins, MAP2K and MAPK activation, UCH proteinases, DNA Damage Recognition in GG-NER, Signaling by moderate kinase activity BRAF mutants, Signaling by high-kinase activity BRAF mutants, Signaling by BRAF and RAF fusions, Paradoxical activation of RAF signaling by kinase inactive BRAF, Clathrin-mediated endocytosis, Signaling downstream of RAS mutants, FCGR3A-mediated phagocytosis Arthritis, Osteoarthrosis Deformans, Dystonia, Bipolar Disorder, Baraitser-Winter syndrome, Genetic Diseases, Esophagus Neoplasm, Hearing Loss, Intellectual Disability, Lung Cancer, Liver Cancer, Anaplastic Carcinoma, Dysostoses, Anencephaly, Congenital ocular coloboma, Myocardial Ischemia, Drachtman Weinblatt Sitarz syndrome, Schizophrenia, Carcinoma, PCOS
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ACTG1 Actin gamma 1 Rap1 signaling pathway, Phagosome, Apoptosis, Hippo signaling pathway, Focal adhesion, Adherens junction, Tight junction, Platelet activation, Leukocyte transendothelial migration, Thermogenesis, Regulation of actin cytoskeleton, Thyroid hormone signaling pathway, Oxytocin signaling pathway, Bacterial invasion of epithelial cells, Vibrio cholerae infection, Pathogenic Escherichia coli infection, Shigellosis, Salmonella infection, Yersinia infection, Influenza A, Proteoglycans in cancer, Hepatocellular carcinoma, Hypertrophic cardiomyopathy (HCM), Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated cardiomyopathy (DCM), Viral myocarditis, Fluid shear stress and atherosclerosis, Gap junction degradation, Formation of annular gap junctions, Regulation of actin dynamics for phagocytic cup formation, EPHB-mediated forward signaling, EPH-ephrin mediated repulsion of cells, Adherens junctions interactions, Recycling pathway of L1, VEGFA-VEGFR2 Pathway, Interaction between L1 and Ankyrins, Cell-extracellular matrix interactions, RHO GTPases activate IQGAPs, RHO GTPases Activate WASPs and WAVEs, RHO GTPases Activate Formins, MAP2K and MAPK activation, Signaling by moderate kinase activity BRAF mutants, Signaling by high-kinase activity BRAF mutants, Signaling by BRAF and RAF fusions, Paradoxical activation of RAF signaling by kinase inactive BRAF, Clathrin-mediated endocytosis, Signaling downstream of RAS mutants, FCGR3A-mediated phagocytosis Drachtman Weinblatt Sitarz syndrome, Osteoporosis, Hearing Loss, Anencephaly, Carcinoma, Congenital ocular coloboma, Baraitser-Winter Syndrome, Anaplastic Carcinoma, Acute Coronary Syndrome, PCOS
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AKT1 AKT serine/threonine kinase 1 EGFR tyrosine kinase inhibitor resistance, Endocrine resistance, Platinum drug resistance, MAPK signaling pathway, ErbB signaling pathway, Ras signaling pathway, Rap1 signaling pathway, cGMP-PKG signaling pathway, cAMP signaling pathway, Chemokine signaling pathway, HIF-1 signaling pathway, FoxO signaling pathway, Sphingolipid signaling pathway, Phospholipase D signaling pathway, Autophagy - animal, mTOR signaling pathway, PI3K-Akt signaling pathway, AMPK signaling pathway, Apoptosis, Longevity regulating pathway, Longevity regulating pathway - multiple species, Cellular senescence, Adrenergic signaling in cardiomyocytes, VEGF signaling pathway, Apelin signaling pathway, Osteoclast differentiation, Focal adhesion, Signaling pathways regulating pluripotency of stem cells, Platelet activation, Toll-like receptor signaling pathway, C-type lectin receptor signaling pathway, JAK-STAT signaling pathway, T cell receptor signaling pathway, B cell receptor signaling pathway, Fc epsilon RI signaling pathway, Fc gamma R-mediated phagocytosis, TNF signaling pathway, Neurotrophin signaling pathway, Cholinergic synapse, Dopaminergic synapse, Insulin signaling pathway, Progesterone-mediated oocyte maturation, Estrogen signaling pathway, Prolactin signaling pathway, Thyroid hormone signaling pathway, Adipocytokine signaling pathway, Glucagon signaling pathway, Regulation of lipolysis in adipocytes, Relaxin signaling pathway, Insulin resistance, Non-alcoholic fatty liver disease (NAFLD), AGE-RAGE signaling pathway in diabetic complications, Carbohydrate digestion and absorption, Yersinia infection, Chagas disease (American trypanosomiasis), Toxoplasmosis, Tuberculosis, Hepatitis C, Hepatitis B, Measles, Human cytomegalovirus infection, Influenza A, Human papillomavirus infection, Human T-cell leukemia virus 1 infection, Kaposi sarcoma-associated herpesvirus infection, Herpes simplex virus 1 infection, Epstein-Barr virus infection, Human immunodeficiency virus 1 infection, Pathways in cancer, Proteoglycans in cancer, Colorectal cancer, Renal cell carcinoma, Pancreatic cancer, Endometrial cancer, Glioma, Prostate cancer, Melanoma, Chronic myeloid leukemia, Acute myeloid leukemia, Small cell lung cancer, Non-small cell lung cancer, Breast cancer, Hepatocellular carcinoma, Gastric cancer, Central carbon metabolism in cancer, Choline metabolism in cancer, PD-L1 expression and PD-1 checkpoint pathway in cancer, Fluid shear stress and atherosclerosis, PIP3 activates AKT signaling, Downregulation of ERBB2:ERBB3 signaling, Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation, mTOR signalling, AKT phosphorylates targets in the cytosol, AKT phosphorylates targets in the nucleus, Negative regulation of the PI3K/AKT network, eNOS activation, AKT-mediated inactivation of FOXO1A, Integrin signaling, Deactivation of the beta-catenin transactivating complex, CD28 dependent PI3K/Akt signaling, CTLA4 inhibitory signaling, G beta:gamma signalling through PI3Kgamma, Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA, KSRP (KHSRP) binds and destabilizes mRNA, VEGFR2 mediated vascular permeability, TP53 Regulates Metabolic Genes, Constitutive Signaling by AKT1 E17K in Cancer, Interleukin-4 and Interleukin-13 signaling, Regulation of TP53 Degradation, Regulation of TP53 Activity through Acetylation, Regulation of TP53 Activity through Association with Co-factors, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, Cyclin E associated events during G1/S transition , Cyclin A:Cdk2-associated events at S phase entry, PTK6 Regulates RTKs and Their Effectors AKT1 and DOK1, RAB GEFs exchange GTP for GDP on RABs, Regulation of PTEN stability and activity, Extra-nuclear estrogen signaling, Negative regulation of NOTCH4 signaling, Regulation of localization of FOXO transcription factors, Estrogen-dependent nuclear events downstream of ESR-membrane signaling Schizophrenia, Breast Cancer, Meningioma, Endometrial Cancer, Bipolar Disorder, Bladder Cancer, Lung Cancer, Colorectal Cancer, Skin Cancer, Ovarian Cancer, Prostate cancer, Breast Cancer,Male, Proteus Syndrome, Liver Cancer, Cardiomyopathy, Osteosarcoma, Intellectual Disability, Mental Depression, Hamartoma, Lymphoma, Epilepsy, Colonic Neoplasms, Intestinal Polyposis, Mood Disorders, Thyroid Cancer, Carcinoma, Myocardial Diseases, Aortic valve calcification, Ctaneous Melanoma, Obesity, Adenocarcinoma of Prostate, Leukemia, Head Neoplasms, Gastric Cancer, PCOS, Vulvar Cancer, Preeclampsia
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AKT2 AKT serine/threonine kinase 2 EGFR tyrosine kinase inhibitor resistance, Endocrine resistance, Platinum drug resistance, MAPK signaling pathway, ErbB signaling pathway, Ras signaling pathway, Rap1 signaling pathway, cGMP-PKG signaling pathway, cAMP signaling pathway, Chemokine signaling pathway, HIF-1 signaling pathway, FoxO signaling pathway, Sphingolipid signaling pathway, Phospholipase D signaling pathway, Autophagy - animal, mTOR signaling pathway, PI3K-Akt signaling pathway, AMPK signaling pathway, Apoptosis, Longevity regulating pathway, Longevity regulating pathway - multiple species, Cellular senescence, Adrenergic signaling in cardiomyocytes, VEGF signaling pathway, Apelin signaling pathway, Osteoclast differentiation, Focal adhesion, Signaling pathways regulating pluripotency of stem cells, Platelet activation, Toll-like receptor signaling pathway, C-type lectin receptor signaling pathway, JAK-STAT signaling pathway, T cell receptor signaling pathway, B cell receptor signaling pathway, Fc epsilon RI signaling pathway, Fc gamma R-mediated phagocytosis, TNF signaling pathway, Neurotrophin signaling pathway, Cholinergic synapse, Dopaminergic synapse, Insulin signaling pathway, Progesterone-mediated oocyte maturation, Estrogen signaling pathway, Prolactin signaling pathway, Thyroid hormone signaling pathway, Adipocytokine signaling pathway, Glucagon signaling pathway, Regulation of lipolysis in adipocytes, Relaxin signaling pathway, Insulin resistance, Non-alcoholic fatty liver disease (NAFLD), AGE-RAGE signaling pathway in diabetic complications, Carbohydrate digestion and absorption, Yersinia infection, Chagas disease (American trypanosomiasis), Toxoplasmosis, Tuberculosis, Hepatitis C, Hepatitis B, Measles, Human cytomegalovirus infection, Influenza A, Human papillomavirus infection, Human T-cell leukemia virus 1 infection, Kaposi sarcoma-associated herpesvirus infection, Herpes simplex virus 1 infection, Epstein-Barr virus infection, Human immunodeficiency virus 1 infection, Pathways in cancer, Proteoglycans in cancer, Colorectal cancer, Renal cell carcinoma, Pancreatic cancer, Endometrial cancer, Glioma, Prostate cancer, Melanoma, Chronic myeloid leukemia, Acute myeloid leukemia, Small cell lung cancer, Non-small cell lung cancer, Breast cancer, Hepatocellular carcinoma, Gastric cancer, Central carbon metabolism in cancer, Choline metabolism in cancer, PD-L1 expression and PD-1 checkpoint pathway in cancer, Fluid shear stress and atherosclerosis, PIP3 activates AKT signaling, Downregulation of ERBB2:ERBB3 signaling, Activation of AKT2, Inhibition of TSC complex formation by PKB, AKT phosphorylates targets in the cytosol, AKT phosphorylates targets in the nucleus, Negative regulation of the PI3K/AKT network, AKT-mediated inactivation of FOXO1A, Deactivation of the beta-catenin transactivating complex, CD28 dependent PI3K/Akt signaling, CTLA4 inhibitory signaling, G beta:gamma signalling through PI3Kgamma, VEGFR2 mediated vascular permeability, TP53 Regulates Metabolic Genes, Constitutive Signaling by AKT1 E17K in Cancer, Regulation of TP53 Degradation, Regulation of TP53 Activity through Acetylation, Regulation of TP53 Activity through Association with Co-factors, Cyclin E associated events during G1/S transition , Cyclin A:Cdk2-associated events at S phase entry, RAB GEFs exchange GTP for GDP on RABs, Regulation of PTEN stability and activity, Regulation of localization of FOXO transcription factors, Estrogen-dependent nuclear events downstream of ESR-membrane signaling Breast Cancer, Lung Cancer, Diabetes Mellitus , Lipodystrophy, Bipolar Disorder, Colorectal Cancer, Hypoinsulinemic Hypoglycemia With Hemihypertrophy, Nasopharyngeal Cancer, PCOS
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ANXA2 Annexin A2 Neutrophil degranulation, Dissolution of Fibrin Clot, Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation Liver Diseases, Osteoporosis, Lung Cancer, Liver Cancer, Carcinoma, Mouth Neoplasms, Leukemia, Hepatitis, Myeloid Leukemia, PCOS
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APC APC regulator of WNT signaling pathway Wnt signaling pathway, Hippo signaling pathway, Signaling pathways regulating pluripotency of stem cells, Regulation of actin cytoskeleton, Cushing syndrome, Human papillomavirus infection, Pathways in cancer, MicroRNAs in cancer, Colorectal cancer, Endometrial cancer, Basal cell carcinoma, Breast cancer, Hepatocellular carcinoma, Gastric cancer, Apoptotic cleavage of cellular proteins, Degradation of beta-catenin by the destruction complex, Beta-catenin phosphorylation cascade, Deactivation of the beta-catenin transactivating complex, Disassembly of the destruction complex and recruitment of AXIN to the membrane, Misspliced GSK3beta mutants stabilize beta-catenin, S33 mutants of beta-catenin aren't phosphorylated, S37 mutants of beta-catenin aren't phosphorylated, S45 mutants of beta-catenin aren't phosphorylated, T41 mutants of beta-catenin aren't phosphorylated, APC truncation mutants are not K63 polyubiquitinated, APC truncation mutants have impaired AXIN binding, AXIN missense mutants destabilize the destruction complex, Truncations of AMER1 destabilize the destruction complex, Ovarian tumor domain proteases Heriditary Neoplastic Syndrome, Adenoma, Intestinal Polyposis, Gardner Syndrome, Colorectal Cancer, Lung Cancer, Colonic Neoplasms, Prostate cancer, Inflammatory Bowel Diseases, Intellectual Disability, Glioblastoma Multiforme, Liver Cancer, Intestinal Cancer, Adenocarcinoma, Gastric Polyposis, Leukocytosis, Rectal Neoplasms, Desmoid Disease, Medulloblastoma, Hepatoblastoma, Autistic Disorder, Hyperlipidemia, Pleocytosis, Mesothelioma, Glioblastoma, Respiratory Distress Syndrome, Gastrointestinal Cancer, Carcinoma, Brain Tumor Polyposis, Eye Abnormalities, Cribriform Carcinoma, Stomach Cancer, Fibromatosis, Schizophrenia, Turcot syndrome, Anemia, PCOS
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APOE Apolipoprotein E Cholesterol metabolism, Alzheimer disease, Nuclear signaling by ERBB4, Scavenging by Class A Receptors, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors, Post-translational protein phosphorylation, Chylomicron assembly, Chylomicron remodeling, Chylomicron clearance, HDL remodeling, NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux, Retinoid metabolism and transport Dysbetalipoproteinemia, Apolipoprotein E, Deficiency or Defect of, Hyperlipemia, Hyperlipoproteinemia, Obesity, Seizures, Hypertensive disease, Senile Dementia, Moyamoya disease, Carotid Artery Diseases, Lung Cancer, Atherosclerosis, Wilson Disease, Psoriasis, Delirium, Acute Coronary Syndrome, Alzheimer Disease, Hyperlipidemia, Hypercholesterolemia, Ischemic Cardiomyopathy, Myocardial Infarction, Adenocarcinoma, Jacksonian Seizure, Cribriform Carcinoma, Betalipoproteinemia, Arteriosclerosis, Liver Diseases, Kidney Insufficiency, Vitiligo, Schizophrenia, Cerebral Amyloid Angiopathy, Geographic Atrophy, Macular Degeneration, Hepatitis, Lewy Body Disease, Glomerulopathy, Dyslipidemias, Bipolar Disorder, Amyloidosis, Multiple Sclerosis, Atonic seizures, Carotid Atherosclerosis, Cognition Disorders, Coronary heart disease, Carcinoma, Pustulosis, Sea-Blue Histiocyte Syndrome, Kidney Failure, PCOS, Obstructive Sleep Apnea, Gluocose Intolerance, Preeclampsia
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KLK3 Kallikrein related peptidase 3 Pathways in cancer, Prostate cancer, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 Prostate cancer, Prostate Carcinoma, Asthma, Prostatic Hyperplasia, Prostatic Adenoma, Prostatic Hypertrophy, PCOS
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AR Androgen receptor Oocyte meiosis, Pathways in cancer, Prostate cancer, HSP90 chaperone cycle for steroid hormone receptors (SHR), Nuclear Receptor transcription pathway, SUMOylation of intracellular receptors, Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3, Ub-specific processing proteases, RUNX2 regulates osteoblast differentiation Prostate cancer, Reifenstein Syndrome, Leukemia, Male Pseudohermaphroditism, Androgen-Insensitivity Syndrome, Alopecia, Prostatic Intraepithelial Neoplasias, Astrocytoma, Kennedy disease, Grade I Astrocytoma, Meniere Disease, Mental Depression, Childhood Cerebral Astrocytoma, Male infertility, Schizophrenia, Androgen Receptor Deficiency, Breast Cancer,Male, Liver Cancer, Hypertensive disease, Cerebral Astrocytoma, Subfertility, Female, Breast Cancer, Intracranial Astrocytoma, Hypospadias, Testicular Feminization, Mood Disorders, Coronary heart disease, Autistic Disorder, Oligoastrocytoma, PCOS, Vulvar Cancer, Obstructive Sleep Apnea, Preeclampsia
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ARNTL Aryl hydrocarbon receptor nuclear translocator like Circadian rhythm, Dopaminergic synapse, BMAL1:CLOCK,NPAS2 activates circadian gene expression Mood Disorders, Myocardial Ischemia, Subfertility, Female, Bipolar Disorder, Mental Depression, Myocardial Infarction, Multiple congenital anomalies, Arteriosclerosis, Ischemic Cardiomyopathy, Myeloid Leukemia, Seasonal Affective Disorder, PCOS, Gluocose Intolerance
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ATF4 Activating transcription factor 4 MAPK signaling pathway, cGMP-PKG signaling pathway, Mitophagy - animal, Protein processing in endoplasmic reticulum, PI3K-Akt signaling pathway, Apoptosis, Longevity regulating pathway, Adrenergic signaling in cardiomyocytes, TNF signaling pathway, Long-term potentiation, Neurotrophin signaling pathway, Cholinergic synapse, Dopaminergic synapse, Insulin secretion, GnRH signaling pathway, Estrogen signaling pathway, Thyroid hormone synthesis, Glucagon signaling pathway, Aldosterone synthesis and secretion, Relaxin signaling pathway, Cortisol synthesis and secretion, Parathyroid hormone synthesis, secretion and action, Non-alcoholic fatty liver disease (NAFLD), Cushing syndrome, Cocaine addiction, Amphetamine addiction, Alcoholism, Hepatitis B, Human cytomegalovirus infection, Human T-cell leukemia virus 1 infection, Viral carcinogenesis, Prostate cancer, ATF4 activates genes in response to endoplasmic reticulum stress, ATF6 (ATF6-alpha) activates chaperone genes, Response of EIF2AK4 (GCN2) to amino acid deficiency, Response of EIF2AK1 (HRI) to heme deficiency Schizophrenia, Fatty Liver, Breast Cancer, Mental Depression, Bipolar Disorder, PCOS
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ATP5F1B ATP synthase F1 subunit beta Oxidative phosphorylation, Metabolic pathways, Thermogenesis, Alzheimer disease, Parkinson disease, Huntington disease, Mitochondrial protein import, Formation of ATP by chemiosmotic coupling, Transcriptional activation of mitochondrial biogenesis, Cristae formation Kidney Failure, Spinocerebellar ataxia, Kidney Insufficiency, PCOS
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BAX BCL2 associated X, apoptosis regulator EGFR tyrosine kinase inhibitor resistance, Endocrine resistance, Platinum drug resistance, Sphingolipid signaling pathway, p53 signaling pathway, Protein processing in endoplasmic reticulum, Apoptosis, Longevity regulating pathway, Apoptosis - multiple species, Necroptosis, Neurotrophin signaling pathway, Non-alcoholic fatty liver disease (NAFLD), AGE-RAGE signaling pathway in diabetic complications, Amyotrophic lateral sclerosis (ALS), Huntington disease, Prion diseases, Tuberculosis, Hepatitis C, Hepatitis B, Measles, Human cytomegalovirus infection, Influenza A, Human papillomavirus infection, Human T-cell leukemia virus 1 infection, Kaposi sarcoma-associated herpesvirus infection, Herpes simplex virus 1 infection, Epstein-Barr virus infection, Human immunodeficiency virus 1 infection, Pathways in cancer, Transcriptional misregulation in cancer, Viral carcinogenesis, Colorectal cancer, Pancreatic cancer, Endometrial cancer, Glioma, Thyroid cancer, Basal cell carcinoma, Melanoma, Chronic myeloid leukemia, Small cell lung cancer, Non-small cell lung cancer, Breast cancer, Hepatocellular carcinoma, Gastric cancer, Release of apoptotic factors from the mitochondria, Activation, translocation and oligomerization of BAX, TP53 Regulates Transcription of Genes Involved in Cytochrome C Release, TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest, Transcriptional regulation by RUNX2 Esophagus Neoplasm, Kidney Insufficiency, Colonic Neoplasms, Myocardial Infarction, Lymphoma, Intestinal Cancer, HIV Infections, Breast Cancer, Liver Diseases, Alzheimer Disease, Ovarian Cancer, HIV Coinfection, Hepatitis, Senile Dementia, Male infertility, Kidney Failure, Prostate cancer, PCOS, Vulvar Cancer, Preeclampsia
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BRCA1 BRCA1 DNA repair associated Platinum drug resistance, Homologous recombination, Fanconi anemia pathway, Ubiquitin mediated proteolysis, PI3K-Akt signaling pathway, MicroRNAs in cancer, Breast cancer, SUMOylation of DNA damage response and repair proteins, HDR through Single Strand Annealing (SSA), HDR through Homologous Recombination (HRR), Metalloprotease DUBs, Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, Resolution of D-loop Structures through Holliday Junction Intermediates, Nonhomologous End-Joining (NHEJ), Homologous DNA Pairing and Strand Exchange, Processing of DNA double-strand break ends, Presynaptic phase of homologous DNA pairing and strand exchange, TP53 Regulates Transcription of DNA Repair Genes, Regulation of TP53 Activity through Phosphorylation, G2/M DNA damage checkpoint, Transcriptional Regulation by E2F6 Hereditary Breast and Ovarian Cancer Syndrome, Breast Cancer, Heriditary Neoplastic Syndrome, Adenoid Cystic Carcinoma, Ovarian Cancer, Breast Cancer,Male, Pancreatic Neoplasm, Fanconi Anemia, Rhabdomyoma, Prostate cancer, Mental Depression, Disease of mouth, Carcinoma, Anemia, Keratoderma, Hematologic Neoplasms, Dysgerminoma, Anaplastic Carcinoma, Schizophrenia, PCOS
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CALR Calreticulin Protein processing in endoplasmic reticulum, Phagosome, Antigen processing and presentation, Chagas disease (American trypanosomiasis), Human cytomegalovirus infection, Human T-cell leukemia virus 1 infection, Herpes simplex virus 1 infection, Epstein-Barr virus infection, Human immunodeficiency virus 1 infection, ER-Phagosome pathway, Assembly of Viral Components at the Budding Site, Scavenging by Class A Receptors, Scavenging by Class F Receptors, ATF6 (ATF6-alpha) activates chaperone genes, Calnexin/calreticulin cycle, Antigen Presentation: Folding, assembly and peptide loading of class I MHC Colorectal Cancer, Anemia, Schizophrenia, Shared Paranoid Disorder, Non-organic psychosis, Esophagus Neoplasm, Psychosis, Prostate cancer, Myocardial Ischemia, Schizoaffective Disorder, Bipolar Disorder, PCOS
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CAPG Capping actin protein, gelsolin like Renal Cancer, Leukemia, Lung Cancer, Myeloid Leukemia, PCOS
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RUNX2 RUNX family transcription factor 2 Parathyroid hormone synthesis, secretion and action, Transcriptional misregulation in cancer, Transcriptional regulation by RUNX2, RUNX1 regulates transcription of genes involved in differentiation of myeloid cells, Regulation of RUNX2 expression and activity, RUNX2 regulates osteoblast differentiation, RUNX2 regulates bone development, RUNX2 regulates genes involved in cell migration, RUNX2 regulates genes involved in differentiation of myeloid cells Skeletal Dysplasia, Odontome, Osteosarcoma, Osteoarthrosis Deformans, Rheumatoid Arthritis, Arthritis, Psoriatic, Stomatognathic System Abnormalities, Craniosynostosis, Arthritis, Uremia, Spondylarthritis, PCOS
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CDX2 Caudal type homeobox 2 Gastric cancer, Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) PCOS, Colonic Neoplasms, Colorectal Cancer, Teratomas, Carcinoma, Neoplasms, Leukemia, Gastric Cancer, Myeloid Leukemia, Genital Neoplasms, Male, Pancreatic Neoplasm, Lung Cancer, Colitis, Adenocarcinoma Of Large Intestine, Adenoma, Nephrolithiasis, Inflammatory Bowel Diseases, Liver Cancer, Cystitis, Gastrointestinal Cancer, Breast Cancer, Ampullary Cancer, Bile Duct Cancer, Ovarian Adenocarcinoma, Muscular Dystrophy, Cholelithiasis, Esophagus Neoplasm, Intestinal Cancer, Gastritis, Gastroesophageal reflux disease, Adenocarcinoma, Thyroid Cancer, Choriocarcinoma, Hematologic Neoplasms, Adenocarcinoma of Prostate, Prostate cancer, Dwarfism, Cervical Cancer, Pancreatic Cyst, Squamous Cell Carcinoma, Hematopoietic Neoplasms, Pulmonary Adenocarcinoma, Skeletal Dysplasia, Esophagitis, Psoriasis, Intrahepatic Cholangiocarcinoma, Focal Adenocarcinoma, Ovarian Cysts, Erythroderma, Allergic rhinitis, Endometrial Cancer, Pancreatic Ductal Adenocarcinoma, Vulvar Cancer
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CEBPB CCAAT enhancer binding protein beta IL-17 signaling pathway, TNF signaling pathway, Tuberculosis, Transcriptional misregulation in cancer, Senescence-Associated Secretory Phenotype (SASP), Transcriptional regulation of white adipocyte differentiation, Transcriptional Regulation by VENTX, Response of EIF2AK4 (GCN2) to amino acid deficiency, Response of EIF2AK1 (HRI) to heme deficiency Cerebral Ischemia, Liver Cancer, Pulmonary Fibrosis, Fatty Liver, Subfertility, Female, PCOS
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CFL1 Cofilin 1 Axon guidance, Fc gamma R-mediated phagocytosis, Regulation of actin cytoskeleton, Pertussis, Human immunodeficiency virus 1 infection, Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation Breast Cancer, Status Dysraphicus, Spina Bifida, Esophagus Neoplasm, PCOS
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MAPK14 Mitogen-activated protein kinase 14 Endocrine resistance, MAPK signaling pathway, Rap1 signaling pathway, FoxO signaling pathway, Sphingolipid signaling pathway, Cellular senescence, Adrenergic signaling in cardiomyocytes, VEGF signaling pathway, Osteoclast differentiation, Signaling pathways regulating pluripotency of stem cells, Platelet activation, Toll-like receptor signaling pathway, NOD-like receptor signaling pathway, RIG-I-like receptor signaling pathway, C-type lectin receptor signaling pathway, IL-17 signaling pathway, Th1 and Th2 cell differentiation, Th17 cell differentiation, T cell receptor signaling pathway, Fc epsilon RI signaling pathway, TNF signaling pathway, Leukocyte transendothelial migration, Thermogenesis, Neurotrophin signaling pathway, Retrograde endocannabinoid signaling, Dopaminergic synapse, Inflammatory mediator regulation of TRP channels, GnRH signaling pathway, Progesterone-mediated oocyte maturation, Prolactin signaling pathway, Relaxin signaling pathway, AGE-RAGE signaling pathway in diabetic complications, Amyotrophic lateral sclerosis (ALS), Epithelial cell signaling in Helicobacter pylori infection, Shigellosis, Salmonella infection, Pertussis, Yersinia infection, Leishmaniasis, Chagas disease (American trypanosomiasis), Toxoplasmosis, Tuberculosis, Hepatitis B, Human cytomegalovirus infection, Kaposi sarcoma-associated herpesvirus infection, Epstein-Barr virus infection, Human immunodeficiency virus 1 infection, Proteoglycans in cancer, PD-L1 expression and PD-1 checkpoint pathway in cancer, Fluid shear stress and atherosclerosis, NOD1/2 Signaling Pathway, p38MAPK events, ERK/MAPK targets, Oxidative Stress Induced Senescence, DSCAM interactions, ADP signalling through P2Y purinoceptor 1, Platelet sensitization by LDL, VEGFA-VEGFR2 Pathway, activated TAK1 mediates p38 MAPK activation, Activation of the AP-1 family of transcription factors, Myogenesis, RHO GTPases Activate NADPH Oxidases, Neutrophil degranulation, Regulation of TP53 Activity through Phosphorylation, CD163 mediating an anti-inflammatory response Mental Depression, Myeloid Leukemia, Liver Cancer, Diabetes Mellitus , Cardiomyopathy, Neuropathy, Lung Cancer, Schizophrenia, Diabetic Foot, Mood Disorders, Myocardial Ischemia, Cholestasis, Myocardial Diseases, PCOS
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DUSP1 Dual specificity phosphatase 1 MAPK signaling pathway, Serotonergic synapse, Fluid shear stress and atherosclerosis, RAF-independent MAPK1/3 activation, Negative regulation of MAPK pathway Myocardial Ischemia, Mental Depression, Endometriosis, Dermatitis, Juvenile arthritis, Still Disease, Endometrioma, PCOS, Obstructive Sleep Apnea
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EGFR Epidermal growth factor receptor EGFR tyrosine kinase inhibitor resistance, Endocrine resistance, MAPK signaling pathway, ErbB signaling pathway, Ras signaling pathway, Rap1 signaling pathway, Calcium signaling pathway, HIF-1 signaling pathway, FoxO signaling pathway, Phospholipase D signaling pathway, Endocytosis, PI3K-Akt signaling pathway, Focal adhesion, Adherens junction, Gap junction, JAK-STAT signaling pathway, Regulation of actin cytoskeleton, GnRH signaling pathway, Estrogen signaling pathway, Oxytocin signaling pathway, Relaxin signaling pathway, Parathyroid hormone synthesis, secretion and action, Cushing syndrome, Epithelial cell signaling in Helicobacter pylori infection, Hepatitis C, Human cytomegalovirus infection, Human papillomavirus infection, Pathways in cancer, Proteoglycans in cancer, MicroRNAs in cancer, Colorectal cancer, Pancreatic cancer, Endometrial cancer, Glioma, Prostate cancer, Melanoma, Bladder cancer, Non-small cell lung cancer, Breast cancer, Hepatocellular carcinoma, Gastric cancer, Central carbon metabolism in cancer, Choline metabolism in cancer, PD-L1 expression and PD-1 checkpoint pathway in cancer, Signaling by ERBB2, Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants, Signaling by ERBB4, SHC1 events in ERBB2 signaling, PIP3 activates AKT signaling, Signaling by EGFR, GRB2 events in EGFR signaling, GAB1 signalosome, SHC1 events in EGFR signaling, EGFR downregulation, PI3K events in ERBB2 signaling, EGFR interacts with phospholipase C-gamma, EGFR Transactivation by Gastrin, Constitutive Signaling by Aberrant PI3K in Cancer, Signal transduction by L1, Constitutive Signaling by EGFRvIII, Inhibition of Signaling by Overexpressed EGFR, RAF/MAP kinase cascade, ERBB2 Regulates Cell Motility, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, ERBB2 Activates PTK6 Signaling, Cargo recognition for clathrin-mediated endocytosis, Clathrin-mediated endocytosis, PTK6 promotes HIF1A stabilization, Downregulation of ERBB2 signaling, TFAP2 (AP-2) family regulates transcription of growth factors and their receptors, Extra-nuclear estrogen signaling, NOTCH3 Activation and Transmission of Signal to the Nucleus, HCMV Early Events, Estrogen-dependent nuclear events downstream of ESR-membrane signaling, Signaling by ERBB2 KD Mutants, Signaling by ERBB2 ECD mutants, Signaling by ERBB2 TMD/JMD mutants Lung Cancer, Head Neoplasms, Adenocarcinoma, Breast Cancer, Ovarian Cancer, Prostate cancer, Central Nervous System Neoplasms, Cervical Cancer, Head and Neck Neoplasms, Stomach Cancer, Chloracne, Digestive Track Neoplasms, Glioblastoma, Kidney Failure, Carcinoma, Glioblastoma Multiforme, Intestinal Polyposis, Bipolar Disorder, Brain Neoplasms, Rectal Neoplasms, Esophagus Neoplasm, Papilloma, Colorectal Cancer, Cribriform Carcinoma, Mental Depression, Pancreatic Neoplasm, Endometrial Cancer, Inflammatory Skin And Bowel Disease, Cholangiocarcinoma, Endometriosis, Cardiomyopathy, Colonic Neoplasms, Kidney Insufficiency, Gall Bladder Cancer, Nasopharyngeal Cancer, Endometrioma, Brain Stem Glioma, Polycystic Kidney Diseases, Dermatitis, Neck Neoplasms, Lipoma, Gastric Cancer, Liver Cancer, Bile Duct Cancer, Diabetes Mellitus , Adrenal Cancer, Bladder Cancer, Mesothelioma, Osteosarcoma, Intrahepatic Cholangiocarcinoma, Arteriovenous Malformations, Cerebral, Extrahepatic Cholangiocarcinoma, Anaplastic Carcinoma, PCOS, Vulvar Cancer, Preeclampsia
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ERBB2 Erb-b2 receptor tyrosine kinase 2 EGFR tyrosine kinase inhibitor resistance, Endocrine resistance, Platinum drug resistance, MAPK signaling pathway, ErbB signaling pathway, Calcium signaling pathway, HIF-1 signaling pathway, PI3K-Akt signaling pathway, Focal adhesion, Adherens junction, Tight junction, Pathways in cancer, Proteoglycans in cancer, MicroRNAs in cancer, Pancreatic cancer, Endometrial cancer, Prostate cancer, Bladder cancer, Non-small cell lung cancer, Breast cancer, Gastric cancer, Central carbon metabolism in cancer, Signaling by ERBB2, SHC1 events in ERBB2 signaling, PIP3 activates AKT signaling, GRB7 events in ERBB2 signaling, Downregulation of ERBB2:ERBB3 signaling, GRB2 events in ERBB2 signaling, PI3K events in ERBB2 signaling, Constitutive Signaling by Aberrant PI3K in Cancer, Sema4D induced cell migration and growth-cone collapse, RAF/MAP kinase cascade, ERBB2 Regulates Cell Motility, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, ERBB2 Activates PTK6 Signaling, Downregulation of ERBB2 signaling, TFAP2 (AP-2) family regulates transcription of growth factors and their receptors, Constitutive Signaling by Overexpressed ERBB2, Drug-mediated inhibition of ERBB2 signaling, Signaling by ERBB2 KD Mutants, Resistance of ERBB2 KD mutants to trastuzumab, Resistance of ERBB2 KD mutants to sapitinib, Resistance of ERBB2 KD mutants to tesevatinib, Resistance of ERBB2 KD mutants to neratinib, Resistance of ERBB2 KD mutants to osimertinib, Resistance of ERBB2 KD mutants to afatinib, Resistance of ERBB2 KD mutants to AEE788, Resistance of ERBB2 KD mutants to lapatinib, Signaling by ERBB2 ECD mutants, Signaling by ERBB2 TMD/JMD mutants, Drug resistance in ERBB2 TMD/JMD mutants Ovarian Cancer, Breast Cancer, Gall Bladder Cancer, Ctaneous Melanoma, Lung Cancer, Stomach Cancer, Adenocarcinoma, Renal Cancer, Gastric Cancer, Colonic Neoplasms, Carcinoma, Astrocytoma, Prostate cancer, Cancer Metastasis, Endometrial Cancer, Adenocarcinoma of Prostate, Medulloblastoma, Bipolar Disorder, Papilloma, Bladder Cancer, Asthma, Brain Neoplasms, Bronchioloalveolar Adenocarcinoma, Esophagus Neoplasm, Intrahepatic Cholangiocarcinoma, Glioma, Head Neoplasms, Stomach Carcinoma, Glioblastoma Multiforme, Ependymoma, Cribriform Carcinoma, Colorectal Cancer, Carcinoma of Skin, Oligodendroglioma, Nasopharyngeal Cancer, Extrahepatic Cholangiocarcinoma, Gastrointestinal Cancer, Adenocarcinoma Of Pancreas, Cholangiocarcinoma, PCOS, Vulvar Cancer
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ERBB4 Erb-b2 receptor tyrosine kinase 4 MAPK signaling pathway, ErbB signaling pathway, Calcium signaling pathway, PI3K-Akt signaling pathway, Proteoglycans in cancer, Signaling by ERBB2, Signaling by ERBB4, SHC1 events in ERBB2 signaling, PI3K events in ERBB4 signaling, SHC1 events in ERBB4 signaling, Nuclear signaling by ERBB4, Downregulation of ERBB4 signaling, PIP3 activates AKT signaling, GRB2 events in ERBB2 signaling, PI3K events in ERBB2 signaling, Constitutive Signaling by Aberrant PI3K in Cancer, RAF/MAP kinase cascade, ERBB2 Regulates Cell Motility, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, ERBB2 Activates PTK6 Signaling, Downregulation of ERBB2 signaling, Estrogen-dependent gene expression, Signaling by ERBB2 KD Mutants, Signaling by ERBB2 TMD/JMD mutants Bipolar Disorder, Skin Cancer, Breast Cancer, Schizophrenia, Asthma, Lateral Sclerosis, Gall Bladder Cancer, Autistic Disorder, PCOS, Vulvar Cancer
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ESR1 Estrogen receptor 1 Endocrine resistance, Estrogen signaling pathway, Prolactin signaling pathway, Thyroid hormone signaling pathway, Endocrine and other factor-regulated calcium reabsorption, Pathways in cancer, Proteoglycans in cancer, Breast cancer, Nuclear signaling by ERBB4, PIP3 activates AKT signaling, Constitutive Signaling by Aberrant PI3K in Cancer, Nuclear Receptor transcription pathway, SUMOylation of intracellular receptors, Ovarian tumor domain proteases, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, TFAP2 (AP-2) family regulates transcription of growth factors and their receptors, RUNX1 regulates estrogen receptor mediated transcription, ESR-mediated signaling, RUNX1 regulates transcription of genes involved in WNT signaling, Regulation of RUNX2 expression and activity, Extra-nuclear estrogen signaling, Estrogen-dependent gene expression Liver Cancer, Breast Cancer, Oligospermia, Mesothelioma, Lung Cancer, Male infertility, Mood Disorders, Myocardial Infarction, Migraine, Estrogen Resistance, Intracranial Astrocytoma, Prostate cancer, Schizophrenia, Uterine Fibroids, Mental Depression, Bone Diseases, Bipolar Disorder, Meniere Disease, Grade I Astrocytoma, Childhood Cerebral Astrocytoma, Adenocarcinoma, Fibroid Tumor, Shared Paranoid Disorder, Astrocytoma, Neuroblastoma, Endometrial Cancer, Subfertility, Female, Cerebral Astrocytoma, Bladder Cancer, Endometriosis, Alzheimer Disease, Atherosclerosis, Female Urogenital Diseases, Nephritis, Sick Headaches, Arteriosclerosis, Carcinoma, Osteopenia, Obesity, Leukemia, Anaplastic Carcinoma, Senile Dementia, Oligoastrocytoma, Prostatic Intraepithelial Neoplasias, Metabolic Bone Disorder, Cribriform Carcinoma, Glomerulonephritis, PCOS, Vulvar Cancer, Preeclampsia
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ESR2 Estrogen receptor 2 Endocrine resistance, Estrogen signaling pathway, Prolactin signaling pathway, Pathways in cancer, Breast cancer, PIP3 activates AKT signaling, Constitutive Signaling by Aberrant PI3K in Cancer, Nuclear Receptor transcription pathway, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, ESR-mediated signaling, Extra-nuclear estrogen signaling Medulloblastoma, Prostate cancer, Carcinoma, Schizophrenia, Bladder Cancer, Astrocytoma, Breast Cancer, Mental Depression, Adenocarcinoma, Colorectal Cancer, Arteriosclerosis, Anaplastic Carcinoma, Endometrioma, Endometriosis, Endometrial Cancer, Childhood Cerebral Astrocytoma, Meniere Disease, Subfertility, Female, Intracranial Astrocytoma, Cerebral Astrocytoma, Cribriform Carcinoma, Prostate Carcinoma, Coronary heart disease, Prostatic Intraepithelial Neoplasias, Grade I Astrocytoma, Oligoastrocytoma, PCOS, Eating Disorders
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GPC4 Glypican 4 Wnt signaling pathway, A tetrasaccharide linker sequence is required for GAG synthesis, HS-GAG biosynthesis, HS-GAG degradation, Defective B4GALT7 causes EDS, progeroid type, Defective B3GAT3 causes JDSSDHD, Defective EXT2 causes exostoses 2, Defective EXT1 causes exostoses 1, TRPS2 and CHDS, Defective B3GALT6 causes EDSP2 and SEMDJL1, Retinoid metabolism and transport PCOS
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FGF12 Fibroblast growth factor 12 Phase 0 - rapid depolarisation Intellectual Disability, Encephalopathies, PCOS
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FGF13 Fibroblast growth factor 13 Phase 0 - rapid depolarisation Pancreatic Neoplasm, PCOS
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FOXO1 Forkhead box O1 FoxO signaling pathway, AMPK signaling pathway, Longevity regulating pathway, Longevity regulating pathway - multiple species, Cellular senescence, Insulin signaling pathway, Thyroid hormone signaling pathway, Glucagon signaling pathway, Insulin resistance, AGE-RAGE signaling pathway in diabetic complications, Human papillomavirus infection, Pathways in cancer, Transcriptional misregulation in cancer, Prostate cancer, AKT phosphorylates targets in the nucleus, AKT-mediated inactivation of FOXO1A, Constitutive Signaling by AKT1 E17K in Cancer, MAPK6/MAPK4 signaling, Interleukin-4 and Interleukin-13 signaling, Regulation of localization of FOXO transcription factors, FOXO-mediated transcription of cell death genes, FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes, Regulation of FOXO transcriptional activity by acetylation, FOXO-mediated transcription of cell cycle genes Prostate cancer, Leukemia, Myeloid Leukemia, Keratoconus, PCOS, Gluocose Intolerance
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FOXO3 Forkhead box O3 EGFR tyrosine kinase inhibitor resistance, Chemokine signaling pathway, FoxO signaling pathway, Mitophagy - animal, PI3K-Akt signaling pathway, AMPK signaling pathway, Longevity regulating pathway, Longevity regulating pathway - multiple species, Cellular senescence, Neurotrophin signaling pathway, Prolactin signaling pathway, Endometrial cancer, Non-small cell lung cancer, Signaling by NODAL, AKT phosphorylates targets in the nucleus, Constitutive Signaling by AKT1 E17K in Cancer, MAPK6/MAPK4 signaling, Interleukin-4 and Interleukin-13 signaling, Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models, RUNX3 regulates BCL2L11 (BIM) transcription, Regulation of localization of FOXO transcription factors, FOXO-mediated transcription of cell death genes, FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes, Regulation of FOXO transcriptional activity by acetylation, FOXO-mediated transcription of cell cycle genes, Estrogen-dependent nuclear events downstream of ESR-membrane signaling Airway Obstruction, Schizophrenia, Chronic Obstructive Pulmonary Disease, Lung Cancer, Gastrointestinal Cancer, Crohn Disease, Adenoid Cystic Carcinoma, Obesity, Bipolar Disorder, PCOS
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FLNA Filamin A MAPK signaling pathway, Focal adhesion, Salmonella infection, Proteoglycans in cancer, Platelet degranulation , GP1b-IX-V activation signalling, Cell-extracellular matrix interactions, RHO GTPases activate PAKs, OAS antiviral response Cardiac Valvular Dysplasia, Marfan Syndrome, Van Buchem disease, Otopalatodigital Syndrome, FG syndrome, Skeletal Dysplasia, Heterotopia, Frontometaphyseal dysplasia, Short Bowel Syndrome, Breast Cancer, Intestinal Pseudoobstruction, Schwartz-Jampel Syndrome, Hearing Loss, Malignant Cystosarcoma Phyllodes, Epilepsy, Melnick-Needles Syndrome, Phyllodes Tumor, PCOS
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FMR1 FMRP translational regulator 1 RNA transport Congenital Abnormality, Autistic Disorder, Fragile X Syndrome, Ovarian Failure, Anxiety Disorders, Mental Depression, Schizophrenia, Bipolar Disorder, Intellectual Disability, Cognition Disorders, Gonadal Agenesis, Mood Disorders, PCOS
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FOS Fos proto-oncogene, AP-1 transcription factor subunit Endocrine resistance, MAPK signaling pathway, cAMP signaling pathway, Apoptosis, Osteoclast differentiation, Toll-like receptor signaling pathway, IL-17 signaling pathway, Th1 and Th2 cell differentiation, Th17 cell differentiation, T cell receptor signaling pathway, B cell receptor signaling pathway, TNF signaling pathway, Circadian entrainment, Cholinergic synapse, Dopaminergic synapse, Estrogen signaling pathway, Prolactin signaling pathway, Oxytocin signaling pathway, Relaxin signaling pathway, Parathyroid hormone synthesis, secretion and action, Amphetamine addiction, Salmonella infection, Pertussis, Yersinia infection, Leishmaniasis, Chagas disease (American trypanosomiasis), Hepatitis B, Measles, Human T-cell leukemia virus 1 infection, Kaposi sarcoma-associated herpesvirus infection, Human immunodeficiency virus 1 infection, Pathways in cancer, Colorectal cancer, Breast cancer, Choline metabolism in cancer, PD-L1 expression and PD-1 checkpoint pathway in cancer, Rheumatoid arthritis, Fluid shear stress and atherosclerosis, Oxidative Stress Induced Senescence, Senescence-Associated Secretory Phenotype (SASP), FCERI mediated MAPK activation, Activation of the AP-1 family of transcription factors, Interleukin-4 and Interleukin-13 signaling, TP53 Regulates Transcription of DNA Repair Genes, Estrogen-dependent gene expression, NGF-stimulated transcription, Estrogen-dependent nuclear events downstream of ESR-membrane signaling Status Epilepticus, Seizures, Lung Cancer, Trigeminal neuralgia, Jacksonian Seizure, Atonic seizures, Petit mal status, Middle Cerebral Artery Syndrome, Osteitis Fibrosa Disseminata, Lateral Sclerosis, Juvenile arthritis, Hypertensive disease, Cerebral Artery Infarction, Breast Cancer, Meniere Disease, Mental Depression, Anxiety Disorders, Brain Infarction, Cerebral Thrombosis, Endometriosis, Still Disease, Epilepsy, Endometrioma, Cholestasis, Liver Cancer, PCOS, Vulvar Cancer
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NR5A1 Nuclear receptor subfamily 5 group A member 1 Cortisol synthesis and secretion, Cushing syndrome, Nuclear Receptor transcription pathway, SUMOylation of intracellular receptors, Transcriptional regulation of pluripotent stem cells Gonadal Dysgenesis, 46,XX, Male infertility, Ovarian Failure, Gonadal Dysgenesis, 46,XY, Endometriosis, Adrenal Insufficiency, Endometrioma, Gonadotropin-Resistant Ovary Syndrome, Ovarian Cancer, Disorders of Sex Development, Spermatogenic Failure, PCOS, Preeclampsia
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GATA4 GATA binding protein 4 cGMP-PKG signaling pathway, Cellular senescence, Tight junction, Thyroid hormone signaling pathway, YAP1- and WWTR1 (TAZ)-stimulated gene expression, Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP), Physiological factors, Factors involved in megakaryocyte development and platelet production Ventricular Septal Defect, Tetralogy of Fallot, Colorectal Cancer, Atrial septal defect, Congenital diaphragmatic hernia, Disorders of Sex Development, Myocardial Infarction, Genital Neoplasms, Male, Congenital heart disease, Testicular Anomalies, PCOS
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GATA6 GATA binding protein 6 Surfactant metabolism, Factors involved in megakaryocyte development and platelet production Tetralogy of Fallot, Conotruncal Heart Malformations, Persistent truncus arteriosus, Lung Cancer, Congenital diaphragmatic hernia, Pancreatic Agenesis, Double Outlet Right Ventricle, Cardiovascular Abnormalities, Atrial septal defect, Interrupted Aortic Arch, Conotruncal Anomaly Face Syndrome, Pancreatic agenesis and congenital heart disease, PCOS
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GPER1 G protein-coupled estrogen receptor 1 Endocrine resistance, Estrogen signaling pathway, Peptide ligand-binding receptors, G alpha (i) signalling events Multiple congenital anomalies, Breast Cancer, PCOS
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MKNK2 MAPK interacting serine/threonine kinase 2 MAPK signaling pathway, HIF-1 signaling pathway, Insulin signaling pathway Cleft upper lip, PCOS
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NR3C1 Nuclear receptor subfamily 3 group C member 1 Neuroactive ligand-receptor interaction, HSP90 chaperone cycle for steroid hormone receptors (SHR), Nuclear Receptor transcription pathway, SUMOylation of intracellular receptors, PTK6 Expression Manic Disorder, Glucocorticoid Receptor Deficiency, Schizoaffective Disorder, Hypertensive disease, Lung Diseases, Mental Depression, Mood Disorders, Psychosis, Bipolar Disorder, Schizophreniform Disorders, Ocular Hypertension, Schizophrenia, Gonadal Dysgenesis, 46,XX, Pseudohermaphroditism, Endometrioma, Prostate cancer, Melancholia, Endometriosis, Pseudohermaphroditism With Hypokalemia, PCOS, Obstructive Sleep Apnea, Gluocose Intolerance
Nucleus
GSK3B Glycogen synthase kinase 3 beta EGFR tyrosine kinase inhibitor resistance, ErbB signaling pathway, Chemokine signaling pathway, Cell cycle, mTOR signaling pathway, PI3K-Akt signaling pathway, Wnt signaling pathway, Hedgehog signaling pathway, Axon guidance, Hippo signaling pathway, Focal adhesion, Signaling pathways regulating pluripotency of stem cells, IL-17 signaling pathway, T cell receptor signaling pathway, B cell receptor signaling pathway, Neurotrophin signaling pathway, Dopaminergic synapse, Insulin signaling pathway, Melanogenesis, Prolactin signaling pathway, Thyroid hormone signaling pathway, Insulin resistance, Non-alcoholic fatty liver disease (NAFLD), Cushing syndrome, Alzheimer disease, Yersinia infection, Hepatitis C, Measles, Human cytomegalovirus infection, Human papillomavirus infection, Kaposi sarcoma-associated herpesvirus infection, Pathways in cancer, Colorectal cancer, Endometrial cancer, Prostate cancer, Basal cell carcinoma, Breast cancer, Hepatocellular carcinoma, Gastric cancer, Degradation of beta-catenin by the destruction complex, Beta-catenin phosphorylation cascade, Regulation of HSF1-mediated heat shock response, CRMPs in Sema3A signaling, Disassembly of the destruction complex and recruitment of AXIN to the membrane, B-WICH complex positively regulates rRNA expression, Misspliced GSK3beta mutants stabilize beta-catenin, S33 mutants of beta-catenin aren't phosphorylated, S37 mutants of beta-catenin aren't phosphorylated, S45 mutants of beta-catenin aren't phosphorylated, T41 mutants of beta-catenin aren't phosphorylated, APC truncation mutants have impaired AXIN binding, AXIN missense mutants destabilize the destruction complex, Truncations of AMER1 destabilize the destruction complex, GLI3 is processed to GLI3R by the proteasome, Constitutive Signaling by AKT1 E17K in Cancer Heart Failure, Myocardial Failure, Neuronal ceroid lipofuscinosis, Mental Depression, Bipolar Disorder, Kidney Failure, Lymphoma, Schizophrenia, Peritonitis, Myocardial Infarction, Alzheimer Disease, Manic Disorder, Senile Dementia, Hypertensive disease, Mood Disorders, Cognition Disorders, Melancholia, Tauopathies, Prostate cancer, Kidney Insufficiency, Multiple congenital anomalies, PCOS, Vulvar Cancer, Gluocose Intolerance
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GSTM3 Glutathione S-transferase mu 3 Glutathione metabolism, Metabolism of xenobiotics by cytochrome P450, Drug metabolism - cytochrome P450, Drug metabolism - other enzymes, Metabolic pathways, Platinum drug resistance, Pathways in cancer, Chemical carcinogenesis, Hepatocellular carcinoma, Fluid shear stress and atherosclerosis, Glutathione conjugation Hepatitis, Liver Diseases, Colorectal Cancer, Prostate cancer, Chloracne, PCOS
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GZMB Granzyme B Apoptosis, Natural killer cell mediated cytotoxicity, Type I diabetes mellitus, Transcriptional misregulation in cancer, Autoimmune thyroid disease, Allograft rejection, Graft-versus-host disease, Activation, myristolyation of BID and translocation to mitochondria Vitiligo, Hepatitis, Breast Cancer, Autistic Disorder, PCOS
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HIF1A Hypoxia inducible factor 1 subunit alpha HIF-1 signaling pathway, Mitophagy - animal, Autophagy - animal, Th17 cell differentiation, Thyroid hormone signaling pathway, Kaposi sarcoma-associated herpesvirus infection, Pathways in cancer, Proteoglycans in cancer, Renal cell carcinoma, Central carbon metabolism in cancer, Choline metabolism in cancer, PD-L1 expression and PD-1 checkpoint pathway in cancer, Regulation of gene expression by Hypoxia-inducible Factor, Cellular response to hypoxia, Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha, Ub-specific processing proteases, Interleukin-4 and Interleukin-13 signaling, PTK6 Expression, PTK6 promotes HIF1A stabilization, Neddylation Ductal Carcinoma, Astrocytoma, Multiple Hemangioblastomas, Hypertensive disease, Erythrocytosis, Breast Cancer, Ischemic Encephalopathy, Glioblastoma, Pulmonary Fibrosis, Grade I Astrocytoma, Thyroid Cancer, Childhood Cerebral Astrocytoma, Prostate cancer, Pancreatic Neoplasm, Cholangitis, Diabetes Mellitus, Cerebral Ischemia, Heart Failure, Glioblastoma Multiforme, Myocardial Failure, Skin Cancer, Oligoastrocytoma, Intraductal Carcinoma, Bipolar Disorder, Esophagus Neoplasm, Anaplasia, Breast Hyperplasia, Mood Disorders, Biliary Cirrhosis, Hemangioblastoma, Intracranial Astrocytoma, Mental Depression, Anaplastic Carcinoma, Carcinoma, Cerebral Astrocytoma, Cardiovascular Abnormalities, PCOS, Vulvar Cancer, Obstructive Sleep Apnea, Gluocose Intolerance, Preeclampsia
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HMGB1 High mobility group box 1 Base excision repair, Autophagy - animal, Necroptosis, Apoptosis induced DNA fragmentation, TAK1 activates NFkB by phosphorylation and activation of IKKs complex, Regulation of TLR by endogenous ligand, Neutrophil degranulation, Advanced glycosylation endproduct receptor signaling, TRAF6 mediated NF-kB activation Leukostasis, Esophagus Neoplasm, Liver Diseases, Neuropathy, Myocardial Ischemia, Myocardial Infarction, Neuralgia, Pulmonary Fibrosis, Cholestasis, Hepatitis, PCOS, Preeclampsia
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HMGB2 High mobility group box 2 Apoptosis induced DNA fragmentation Obesity, Liver Cancer, Lung Cancer, PCOS
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NR4A1 Nuclear receptor subfamily 4 group A member 1 MAPK signaling pathway, PI3K-Akt signaling pathway, Aldosterone synthesis and secretion, Cortisol synthesis and secretion, Cushing syndrome, AKT phosphorylates targets in the nucleus, Nuclear Receptor transcription pathway, Constitutive Signaling by AKT1 E17K in Cancer PCOS, Endometriosis, Colonic Neoplasms, Hyperandrogenism, Inflammatory Bowel Diseases, Liver Diseases, Lymphoma, Ventricular Fibrillation, Atherosclerosis, Ovarian Cancer, Diabetes Mellitus, Cardiomyopathy, Breast Cancer, Pancreatic Neoplasm, Gastric Cancer, Rhabdomyoma, Pulmonary Fibrosis, Hypercholesterolemia, Adrenal Cancer, Seizures, Myeloid Leukemia, Epilepsy, Obesity, Leydig Cell Tumor, Liver Cancer, Squamous Cell Carcinoma, Adrenal Cortex Diseases, Myelodysplastic Syndrome, Dyskinesia, Hyperinsulinism
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FOXA2 Forkhead box A2 Longevity regulating pathway - multiple species, Maturity onset diabetes of the young PCOS
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HNRNPD Heterogeneous nuclear ribonucleoprotein D AUF1 (hnRNP D0) binds and destabilizes mRNA, mRNA Splicing - Major Pathway, Processing of Capped Intron-Containing Pre-mRNA Thyroid Cancer, Carcinoma, Autoimmune Diseases, Liver Cancer, Lung Cancer, Lupus Erythematosus, Arthritis, PCOS
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HOXA10 Homeobox A10 Transcriptional misregulation in cancer Endometrial Cancer, Adenocarcinoma, Carcinoma, Cribriform Carcinoma, Female Urogenital Diseases, PCOS
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HSPA5 Heat shock protein family A (Hsp70) member 5 Protein export, Protein processing in endoplasmic reticulum, Antigen processing and presentation, Thyroid hormone synthesis, Prion diseases, Regulation of HSF1-mediated heat shock response, ATF6 (ATF6-alpha) activates chaperones, PERK regulates gene expression, IRE1alpha activates chaperones, ATF6 (ATF6-alpha) activates chaperone genes, Antigen Presentation: Folding, assembly and peptide loading of class I MHC Obesity, Pulmonary asbestosis, Esophagus Neoplasm, Hematopoietic Neoplasms, Myeloid Leukemia, Myocardial Infarction, Spinocerebellar ataxia, Bipolar Disorder, Pulmonary Fibrosis, Hematologic Neoplasms, Liver Cancer, PCOS
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HSPA6 Heat shock protein family A (Hsp70) member 6 Spliceosome, MAPK signaling pathway, Protein processing in endoplasmic reticulum, Endocytosis, Longevity regulating pathway - multiple species, Antigen processing and presentation, Estrogen signaling pathway, Legionellosis, Toxoplasmosis, Measles, Regulation of HSF1-mediated heat shock response, Neutrophil degranulation Juvenile arthritis, Still Disease, PCOS
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HSPA7 Heat shock protein family A (Hsp70) member 7 PCOS, Neurodevelopmental Disorders, Carcinoma, Allergic rhinitis, HIV Infections, Neuroblastoma, Lymphoma, Prostate cancer, Endometriosis, Leukemia, Myeloid Leukemia, Chronic Lung Injury, Liver Cancer, Breast Cancer
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HSPB1 Heat shock protein family B (small) member 1 MAPK signaling pathway, VEGF signaling pathway, Amoebiasis, VEGFA-VEGFR2 Pathway, AUF1 (hnRNP D0) binds and destabilizes mRNA, MAPK6/MAPK4 signaling, Extra-nuclear estrogen signaling Carcinoma, Charcot-Marie-Tooth Disease, Multiple Myeloma, Status Epilepticus, Colonic Neoplasms, Heart Failure, Genetic Diseases, Neuronopathy, Distal Hereditary Motor, Type Iib, Mouth Neoplasms, Lung Cancer, Muscular Dystrophy, HIV Infections, Stomach Cancer, Dermatitis, Cardiomyopathy, HIV Coinfection, Liver Cancer, Myocardial Failure, Renal Cancer, Leukemia, Petit mal status, Myeloid Leukemia, Gastric Cancer, PCOS, Preeclampsia
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DNAJB1 DnaJ heat shock protein family (Hsp40) member B1 Protein processing in endoplasmic reticulum, Influenza A, Regulation of HSF1-mediated heat shock response, HSP90 chaperone cycle for steroid hormone receptors (SHR), Attenuation phase, HSF1-dependent transactivation, MAPK6/MAPK4 signaling Bipolar Disorder, PCOS
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IDE Insulin degrading enzyme Alzheimer disease, Ub-specific processing proteases, Peroxisomal protein import Senile Dementia, Diabetes Mellitus , Alzheimer Disease, Lateral Sclerosis, Schizophrenia, PCOS, Gluocose Intolerance
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IGFBP3 Insulin like growth factor binding protein 3 p53 signaling pathway, Cellular senescence, Transcriptional misregulation in cancer, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), TP53 Regulates Transcription of Death Receptors and Ligands, Post-translational protein phosphorylation Bladder Cancer, Prostate cancer, Colorectal Cancer, Gastric Cancer, Rheumatoid Arthritis, Autistic Disorder, Stomach Cancer, Russell-Silver syndrome, Carcinoma, Myocardial Ischemia, PCOS, Obstructive Sleep Apnea
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JUN Jun proto-oncogene, AP-1 transcription factor subunit Endocrine resistance, MAPK signaling pathway, ErbB signaling pathway, cAMP signaling pathway, Mitophagy - animal, Apoptosis, Wnt signaling pathway, Osteoclast differentiation, Focal adhesion, Tight junction, Toll-like receptor signaling pathway, NOD-like receptor signaling pathway, C-type lectin receptor signaling pathway, IL-17 signaling pathway, Th1 and Th2 cell differentiation, Th17 cell differentiation, T cell receptor signaling pathway, B cell receptor signaling pathway, TNF signaling pathway, Neurotrophin signaling pathway, GnRH signaling pathway, Estrogen signaling pathway, Oxytocin signaling pathway, Relaxin signaling pathway, Non-alcoholic fatty liver disease (NAFLD), AGE-RAGE signaling pathway in diabetic complications, Cocaine addiction, Amphetamine addiction, Epithelial cell signaling in Helicobacter pylori infection, Salmonella infection, Pertussis, Yersinia infection, Leishmaniasis, Chagas disease (American trypanosomiasis), Hepatitis B, Measles, Human T-cell leukemia virus 1 infection, Kaposi sarcoma-associated herpesvirus infection, Epstein-Barr virus infection, Human immunodeficiency virus 1 infection, Pathways in cancer, Viral carcinogenesis, Colorectal cancer, Renal cell carcinoma, Breast cancer, Choline metabolism in cancer, PD-L1 expression and PD-1 checkpoint pathway in cancer, Inflammatory bowel disease (IBD), Rheumatoid arthritis, Fluid shear stress and atherosclerosis, Pre-NOTCH Transcription and Translation, Oxidative Stress Induced Senescence, Senescence-Associated Secretory Phenotype (SASP), FCERI mediated MAPK activation, Activation of the AP-1 family of transcription factors, MAPK6/MAPK4 signaling, TP53 Regulates Transcription of DNA Repair Genes, Regulation of PTEN gene transcription, Estrogen-dependent gene expression, WNT5:FZD7-mediated leishmania damping Liver Cancer, Schizophrenia, Mercury Psychosis, Colonic Neoplasms, Osteosarcoma, Petit mal status, Status Epilepticus, Stomach Cancer, Hemangioma, Lung Cancer, Gastric Cancer, Juvenile arthritis, Breast Cancer, Cholestasis, Hypertensive disease, Cerebral Ischemia, Neuropathy, Still Disease, PCOS, Vulvar Cancer
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KRT8 Keratin 8 Keratinization, Formation of the cornified envelope Breast Cancer, Liver Cirrhosis, Adenocarcinoma, Lung Cancer, Renal Cancer, Colorectal Cancer, Gastric Cancer, Liver Cancer, Ovarian Cancer, Cribriform Carcinoma, Liver Failure, Prostate Carcinoma, Carcinoma, Endometrial Cancer, Liver Diseases, Stomach Cancer, Ovarian Adenocarcinoma, Liver Fibrosis, PCOS
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LMNA Lamin A/C Apoptosis, Hypertrophic cardiomyopathy (HCM), Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated cardiomyopathy (DCM), Nuclear Envelope Breakdown, Initiation of Nuclear Envelope (NE) Reformation, Breakdown of the nuclear lamina, XBP1(S) activates chaperone genes, Depolymerisation of the Nuclear Lamina, Signaling by BRAF and RAF fusions Cardiomyopathy, Genetic Diseases, Charcot-Marie-Tooth Disease, Mandibuloacral dysplasia, Muscular Dystrophy, Lipodystrophy, Dysautonomia, Progeria, Restrictive dermopathy, Scleroderma, Ventricular Tachycardia, Heart Block, HIV-Associated Lipodystrophy Syndrome, Foot Deformity, Najjar syndrome, Parkinson Disease, Malouf syndrome, Morphea, Ovarian Cancer, Myopathy, Holt-Oram syndrome, Arrhythmogenic Right Ventricular Dysplasia, Hand Deformities, Lung Cancer, PCOS
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LYN LYN proto-oncogene, Src family tyrosine kinase Chemokine signaling pathway, NF-kappa B signaling pathway, Platelet activation, B cell receptor signaling pathway, Fc epsilon RI signaling pathway, Fc gamma R-mediated phagocytosis, Long-term depression, Epithelial cell signaling in Helicobacter pylori infection, Kaposi sarcoma-associated herpesvirus infection, Epstein-Barr virus infection, Viral carcinogenesis, GPVI-mediated activation cascade, Signaling by SCF-KIT, Regulation of KIT signaling, Cell surface interactions at the vascular wall, FCGR activation, PECAM1 interactions, Fc epsilon receptor (FCERI) signaling, Role of LAT2/NTAL/LAB on calcium mobilization, FCERI mediated MAPK activation, FCERI mediated Ca+2 mobilization, FCERI mediated NF-kB activation, CD28 co-stimulation, CTLA4 inhibitory signaling, EPHB-mediated forward signaling, EPHA-mediated growth cone collapse, EPH-ephrin mediated repulsion of cells, Dectin-2 family, CD209 (DC-SIGN) signaling, CD22 mediated BCR regulation, Cyclin D associated events in G1, Platelet Adhesion to exposed collagen, Erythropoietin activates Phosphoinositide-3-kinase (PI3K), Erythropoietin activates RAS, Regulation of signaling by CBL, FCGR3A-mediated IL10 synthesis, FCGR3A-mediated phagocytosis, Growth hormone receptor signaling Lupus Erythematosus, HIV Coinfection, Hypertensive disease, HIV Infections, PCOS
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MAK Male germ cell associated kinase Retinitis Pigmentosa, PCOS
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MDH2 Malate dehydrogenase 2 Citrate cycle (TCA cycle), Cysteine and methionine metabolism, Pyruvate metabolism, Glyoxylate and dicarboxylate metabolism, Metabolic pathways, Carbon metabolism, Gluconeogenesis, Citric acid cycle (TCA cycle) Encephalopathies, Mitochondrial Diseases, Adrenal Cancer, Carcinoma, Anaplastic Carcinoma, Intellectual Disability, PCOS
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MDM2 MDM2 proto-oncogene Endocrine resistance, Platinum drug resistance, FoxO signaling pathway, Cell cycle, p53 signaling pathway, Ubiquitin mediated proteolysis, Endocytosis, PI3K-Akt signaling pathway, Cellular senescence, C-type lectin receptor signaling pathway, Thyroid hormone signaling pathway, Human cytomegalovirus infection, Human papillomavirus infection, Epstein-Barr virus infection, Pathways in cancer, Transcriptional misregulation in cancer, Viral carcinogenesis, Proteoglycans in cancer, MicroRNAs in cancer, Glioma, Prostate cancer, Melanoma, Bladder cancer, Chronic myeloid leukemia, AKT phosphorylates targets in the cytosol, Oxidative Stress Induced Senescence, Oncogene Induced Senescence, SUMOylation of transcription factors, SUMOylation of ubiquitinylation proteins, Trafficking of AMPA receptors, Constitutive Signaling by AKT1 E17K in Cancer, Ub-specific processing proteases, Regulation of TP53 Activity through Phosphorylation, Regulation of TP53 Degradation, Regulation of TP53 Activity through Methylation, Stabilization of p53, Regulation of RUNX3 expression and activity Prostate cancer, Male infertility, Breast Cancer, HIV Infections, Lung Cancer, Lipoma, HIV Coinfection, PCOS, Vulvar Cancer
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MYH9 Myosin heavy chain 9 Tight junction, Regulation of actin cytoskeleton, Salmonella infection, Regulation of actin dynamics for phagocytic cup formation, RHO GTPases activate PAKs, CD163 mediating an anti-inflammatory response, FCGR3A-mediated phagocytosis Deafness, Hematuria, Glomerular Hyalinosis, Breast Cancer, Nephritis, Alport Syndrome, Sebastian Syndrome, Thrombocytopenia, Kidney Failure, Glomerulosclerosis, Macrothrombocytopenia And Progressive Sensorineural Deafness, Schizophrenia, Renal hypertension, Diabetic Nephropathy, Lobular Cancer, PCOS
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NFE2L2 Nuclear factor, erythroid 2 like 2 Protein processing in endoplasmic reticulum, Pathways in cancer, Hepatocellular carcinoma, Fluid shear stress and atherosclerosis Non-alcoholic Fatty Liver Disease, Pulmonary Fibrosis, Liver Fibrosis, Liver Cancer, Heart Failure, Hyperglycemia, Liver Cirrhosis, Cholestasis, Keratosis, Liver Diseases, Diabetic Nephropathy, Endometrial Cancer, Lung Cancer, Skin Cancer, Prostate cancer, Carcinoma, Kidney Insufficiency, Fatty Liver, Cholera Infantum, Myocardial Failure, Ovarian Failure, Hepatitis, Kidney Failure, Pancreatic Neoplasm, Gastrointestinal Diseases, Immunodeficiency, Developmental Delay, And Hypohomocysteinemia, Glomerulosclerosis, Esophagus Neoplasm, Head Neoplasms, Renal Cancer, Bladder Cancer, Dermatitis, Gonadotropin-Resistant Ovary Syndrome, PCOS, Obstructive Sleep Apnea, Preeclampsia
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NFKB1 Nuclear factor kappa B subunit 1 Antifolate resistance, MAPK signaling pathway, Ras signaling pathway, cAMP signaling pathway, Chemokine signaling pathway, NF-kappa B signaling pathway, HIF-1 signaling pathway, Sphingolipid signaling pathway, PI3K-Akt signaling pathway, Apoptosis, Longevity regulating pathway, Cellular senescence, Osteoclast differentiation, Toll-like receptor signaling pathway, NOD-like receptor signaling pathway, RIG-I-like receptor signaling pathway, Cytosolic DNA-sensing pathway, C-type lectin receptor signaling pathway, IL-17 signaling pathway, Th1 and Th2 cell differentiation, Th17 cell differentiation, T cell receptor signaling pathway, B cell receptor signaling pathway, TNF signaling pathway, Neurotrophin signaling pathway, Prolactin signaling pathway, Adipocytokine signaling pathway, Relaxin signaling pathway, Insulin resistance, Non-alcoholic fatty liver disease (NAFLD), AGE-RAGE signaling pathway in diabetic complications, Cocaine addiction, Epithelial cell signaling in Helicobacter pylori infection, Shigellosis, Salmonella infection, Pertussis, Legionellosis, Yersinia infection, Leishmaniasis, Chagas disease (American trypanosomiasis), Toxoplasmosis, Amoebiasis, Tuberculosis, Hepatitis C, Hepatitis B, Measles, Human cytomegalovirus infection, Influenza A, Human papillomavirus infection, Human T-cell leukemia virus 1 infection, Kaposi sarcoma-associated herpesvirus infection, Herpes simplex virus 1 infection, Epstein-Barr virus infection, Human immunodeficiency virus 1 infection, Pathways in cancer, Transcriptional misregulation in cancer, Viral carcinogenesis, MicroRNAs in cancer, Pancreatic cancer, Prostate cancer, Chronic myeloid leukemia, Acute myeloid leukemia, Small cell lung cancer, PD-L1 expression and PD-1 checkpoint pathway in cancer, Inflammatory bowel disease (IBD), Fluid shear stress and atherosclerosis, Activation of NF-kappaB in B cells, RIP-mediated NFkB activation via ZBP1, Regulated proteolysis of p75NTR, Downstream TCR signaling, NF-kB is activated and signals survival, Senescence-Associated Secretory Phenotype (SASP), FCERI mediated NF-kB activation, DEx/H-box helicases activate type I IFN and inflammatory cytokines production , PKMTs methylate histone lysines, TAK1 activates NFkB by phosphorylation and activation of IKKs complex, Interleukin-1 processing, IkBA variant leads to EDA-ID, CLEC7A (Dectin-1) signaling, CD209 (DC-SIGN) signaling, CLEC7A/inflammasome pathway, MAP3K8 (TPL2)-dependent MAPK1/3 activation, Neutrophil degranulation, The NLRP3 inflammasome, Transcriptional Regulation by VENTX, Interleukin-1 signaling, TRAF6 mediated NF-kB activation, HCMV Early Events, Purinergic signaling in leishmaniasis infection Immunodeficiency, Adenocarcinoma, Diabetes Mellitus , Meniere Disease, Kidney Failure, Biliary Cirrhosis, Psoriasis, Liver Diseases, Spondylitis, Colitis, Kidney Insufficiency, Mood Disorders, Carcinoma, Cerebral Ischemia, Cholangitis, Colonic Neoplasms, Oxalosis, Ovarian Cysts, Hyperoxaluria, Corpus Luteum Cyst, Cribriform Carcinoma, Crohn Disease, PCOS, Obstructive Sleep Apnea, Preeclampsia
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NOS2 Nitric oxide synthase 2 Arginine biosynthesis, Arginine and proline metabolism, Metabolic pathways, Calcium signaling pathway, HIF-1 signaling pathway, Peroxisome, Apelin signaling pathway, Relaxin signaling pathway, Salmonella infection, Pertussis, Leishmaniasis, Chagas disease (American trypanosomiasis), Toxoplasmosis, Amoebiasis, Tuberculosis, Pathways in cancer, Small cell lung cancer, ROS and RNS production in phagocytes, Nitric oxide stimulates guanylate cyclase, Interleukin-4 and Interleukin-13 signaling, Peroxisomal protein import, Inhibition of nitric oxide production Breast Cancer, Parkinson Disease, Stevens-Johnson Syndrome, Colonic Neoplasms, Duodenal Ulcer, Myocardial Infarction, Esophagus Neoplasm, Mitochondrial Diseases, Heart Failure, Mental Depression, Asthma, Lung Cancer, Cerebral Ischemia, Psoriasis, Gastric ulcer, Enterocolitis, Hemorrhages, Seizures, Extrahepatic Cholangiocarcinoma, Cardiovascular Abnormalities, Glomerulosclerosis, Hypertensive disease, Stroke, Colitis, Ischemic Encephalopathy, Retinal Diseases, Pulmonary Fibrosis, Status Epilepticus, Cholestasis, Kidney Insufficiency, Intestinal Diseases, Intrahepatic Cholangiocarcinoma, Cerebral Edema, Diabetes Mellitus , Myocardial Stunning, Autistic Disorder, Bronchial Diseases, Atherosclerosis, Arthritis, Psoriatic, Cholangitis, Petit mal status, Atonic seizures, Crohn Disease, Aortitis Syndrome, Hibernating Myocardium, Takayasu Arteritis, Meniere Disease, Airway Obstruction, Mendelson Syndrome, Turner Syndrome, Marfan Syndrome, Kidney Failure, Myocardial Failure, Chronic Obstructive Pulmonary Disease, Cholangiocarcinoma, Liver Diseases, Glomerular Hyalinosis, Pneumonia, Pulmonary asbestosis, Jacksonian Seizure, Urinary tract infection, Silicosis, Hyperemia, Spondylitis, Pustulosis, PCOS, Obstructive Sleep Apnea
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NPPB Natriuretic peptide B cGMP-PKG signaling pathway, Vascular smooth muscle contraction, Thermogenesis Cardiomyopathy, Heart Failure, Aortic Valve Insufficiency, Myocardial Failure, Arteriosclerosis, Atrial Fibrillation, Hypertensive disease, Ventricular Tachycardia, Myocardial Diseases, Heart Diseases, Sickle Cell Anemia, Cardiovascular Abnormalities, PCOS, Eating Disorders
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PRDX1 Peroxiredoxin 1 Peroxisome, Detoxification of Reactive Oxygen Species, TP53 Regulates Metabolic Genes Methylmalonic acidemia with homocystinuria, Lung Cancer, Pulmonary asbestosis, Pulmonary Fibrosis, Liver Cancer, Esophagus Neoplasm, PCOS
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PAX6 Paired box 6 Signaling pathways regulating pluripotency of stem cells, Maturity onset diabetes of the young, Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1), Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP) Aniridia, Cataract, Axenfeld-Rieger Syndrome, Intellectual Disability, Irido-corneo-trabecular dysgenesis, Anencephaly, Foveal Hypoplasia, Optic Disk Disorders, Congenital ocular coloboma, Foster-Kennedy Syndrome, Prostate cancer, Odontome, Diabetes Mellitus , Gastric Cancer, Autistic Disorder, Drachtman Weinblatt Sitarz syndrome, Schizophrenia, Stomach Cancer, Morning Glory Anomaly, Anterior Segment Dysgenesis, PCOS, Gluocose Intolerance
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PIN1 Peptidylprolyl cis/trans isomerase, NIMA-interacting 1 RIG-I-like receptor signaling pathway, ISG15 antiviral mechanism, RHO GTPases Activate NADPH Oxidases, Regulation of TP53 Activity through Phosphorylation, PI5P Regulates TP53 Acetylation, Negative regulators of DDX58/IFIH1 signaling Breast Cancer, PCOS
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PKM Pyruvate kinase M1/2 Glycolysis / Gluconeogenesis, Purine metabolism, Pyruvate metabolism, Metabolic pathways, Carbon metabolism, Biosynthesis of amino acids, Glucagon signaling pathway, Type II diabetes mellitus, Human papillomavirus infection, Viral carcinogenesis, Central carbon metabolism in cancer, Neutrophil degranulation, Glycolysis Osteoporosis, Liver Cancer, Carcinoma, Anaplastic Carcinoma, PCOS, Gluocose Intolerance
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PPARD Peroxisome proliferator activated receptor delta PPAR signaling pathway, Wnt signaling pathway, Pathways in cancer, Acute myeloid leukemia, Carnitine metabolism, Regulation of pyruvate dehydrogenase (PDH) complex, Nuclear Receptor transcription pathway, Signaling by Retinoic Acid Cardiomyopathy, Alcoholic fatty liver, Obesity, Skin Cancer, Neuropathy, Non-alcoholic Fatty Liver Disease, Gout, Fatty Liver, Myocardial Diseases, Bipolar Disorder, PCOS
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PPARG Peroxisome proliferator activated receptor gamma PPAR signaling pathway, AMPK signaling pathway, Longevity regulating pathway, Osteoclast differentiation, Thermogenesis, Huntington disease, Pathways in cancer, Transcriptional misregulation in cancer, Thyroid cancer, PPARA activates gene expression, Transcriptional regulation of white adipocyte differentiation, Nuclear Receptor transcription pathway, Regulation of PTEN gene transcription Stomach Cancer, Pancreatic Neoplasm, Alzheimer Disease, Pustulosis, Thyroid Cancer, Diabetes Mellitus , Lipodystrophy, Chronobiology Disorders, Gastric Cancer, Hypertensive disease, Kidney Insufficiency, Liver Cancer, Polycystic Kidney Diseases, Colorectal Cancer, Cribriform Carcinoma, Heart Failure, Glomerulonephritis, Adenocarcinoma, Antiphospholipid Syndrome, Dyslipidemias, Liver Diseases, Kidney Failure, Obesity, Circadian Rhythm Disorders, Leukostasis, Colonic Neoplasms, Psoriasis, Barrett Esophagus, Nephritis, Crohn Disease, Carcinoma, Arthritis, Lipoidosis, Barrett Epithelium, Mood Disorders, Senile Dementia, Schizophrenia, Diabetic Nephropathy, Myocardial Failure, Metabolic Diseases, Enteritis, Cushing Syndrome, Lymphoma, Atherosclerosis, Colitis, Glomerulosclerosis, Osteoarthrosis Deformans, PCOS, Obstructive Sleep Apnea, Gluocose Intolerance
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PKN2 Protein kinase N2 PI3K-Akt signaling pathway, Salmonella infection, Yersinia infection, RHO GTPases activate PKNs Huntington Disease, Breast Cancer, PCOS
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MAPK1 Mitogen-activated protein kinase 1 EGFR tyrosine kinase inhibitor resistance, Endocrine resistance, Platinum drug resistance, MAPK signaling pathway, ErbB signaling pathway, Ras signaling pathway, Rap1 signaling pathway, cGMP-PKG signaling pathway, cAMP signaling pathway, Chemokine signaling pathway, HIF-1 signaling pathway, FoxO signaling pathway, Sphingolipid signaling pathway, Phospholipase D signaling pathway, Oocyte meiosis, Autophagy - animal, mTOR signaling pathway, PI3K-Akt signaling pathway, Apoptosis, Cellular senescence, Adrenergic signaling in cardiomyocytes, Vascular smooth muscle contraction, TGF-beta signaling pathway, Axon guidance, VEGF signaling pathway, Apelin signaling pathway, Osteoclast differentiation, Focal adhesion, Adherens junction, Gap junction, Signaling pathways regulating pluripotency of stem cells, Platelet activation, Toll-like receptor signaling pathway, NOD-like receptor signaling pathway, C-type lectin receptor signaling pathway, Natural killer cell mediated cytotoxicity, IL-17 signaling pathway, Th1 and Th2 cell differentiation, Th17 cell differentiation, 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, Relaxin signaling pathway, Parathyroid hormone synthesis, secretion and action, Type II diabetes mellitus, AGE-RAGE signaling pathway in diabetic complications, Cushing syndrome, Aldosterone-regulated sodium reabsorption, Alzheimer disease, Prion diseases, Alcoholism, Shigellosis, Salmonella infection, Pertussis, Yersinia infection, Leishmaniasis, Chagas disease (American trypanosomiasis), Toxoplasmosis, Tuberculosis, Hepatitis C, Hepatitis B, Human cytomegalovirus infection, Influenza A, Human papillomavirus infection, Human T-cell leukemia virus 1 infection, Kaposi sarcoma-associated herpesvirus infection, Human immunodeficiency virus 1 infection, Pathways in cancer, Viral carcinogenesis, Proteoglycans in cancer, MicroRNAs in cancer, Colorectal cancer, Renal cell carcinoma, Pancreatic cancer, Endometrial cancer, Glioma, Prostate cancer, Thyroid cancer, Melanoma, Bladder cancer, Chronic myeloid leukemia, Acute myeloid leukemia, Non-small cell lung cancer, Breast cancer, Hepatocellular carcinoma, Gastric cancer, Central carbon metabolism in cancer, Choline metabolism in cancer, PD-L1 expression and PD-1 checkpoint pathway in cancer, phospho-PLA2 pathway, RAF-independent MAPK1/3 activation, MAPK1 (ERK2) activation, Spry regulation of FGF signaling, Golgi Cisternae Pericentriolar Stack Reorganization, Frs2-mediated activation, ERK/MAPK targets, ERKs are inactivated, Regulation of actin dynamics for phagocytic cup formation, Oxidative Stress Induced Senescence, Senescence-Associated Secretory Phenotype (SASP), Oncogene Induced Senescence, FCERI mediated MAPK activation, Regulation of HSF1-mediated heat shock response, NCAM signaling for neurite out-growth, Recycling pathway of L1, Signal transduction by L1, Activation of the AP-1 family of transcription factors, Thrombin signalling through proteinase activated receptors (PARs), Negative regulation of FGFR1 signaling, Negative regulation of FGFR2 signaling, Negative regulation of FGFR3 signaling, Negative regulation of FGFR4 signaling, RHO GTPases Activate WASPs and WAVEs, RHO GTPases Activate NADPH Oxidases, RAF/MAP kinase cascade, MAP2K and MAPK activation, Negative feedback regulation of MAPK pathway, Negative regulation of MAPK pathway, Neutrophil degranulation, Signaling by moderate kinase activity BRAF mutants, Signaling by high-kinase activity BRAF mutants, Signaling by BRAF and RAF fusions, Paradoxical activation of RAF signaling by kinase inactive BRAF, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, Signal attenuation, Gastrin-CREB signalling pathway via PKC and MAPK, ESR-mediated signaling, Regulation of PTEN gene transcription, Regulation of the apoptosome activity, Estrogen-stimulated signaling through PRKCZ, Estrogen-dependent nuclear events downstream of ESR-membrane signaling, Suppression of apoptosis, Signaling downstream of RAS mutants, FCGR3A-mediated phagocytosis, Growth hormone receptor signaling Lung Cancer, Trigeminal neuralgia, Bladder Cancer, Cerebral Ischemia, Stomach Cancer, Juvenile arthritis, Ovarian Cancer, Head Neoplasms, Anhedonia, Gastric Cancer, Subfertility, Female, Bipolar Disorder, Cardiomyopathy, Renal Cancer, Multiple Sclerosis, Pneumonia, Schizophrenia, Lymphoma, Head and Neck Neoplasms, Digestive Track Neoplasms, Still Disease, Neck Neoplasms, Neuronal ceroid lipofuscinosis, Myocardial Diseases, Carcinoma, Cholestasis, PCOS, Preeclampsia
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MAPK3 Mitogen-activated protein kinase 3 EGFR tyrosine kinase inhibitor resistance, Endocrine resistance, Platinum drug resistance, MAPK signaling pathway, ErbB signaling pathway, Ras signaling pathway, Rap1 signaling pathway, cGMP-PKG signaling pathway, cAMP signaling pathway, Chemokine signaling pathway, HIF-1 signaling pathway, FoxO signaling pathway, Sphingolipid signaling pathway, Phospholipase D signaling pathway, Oocyte meiosis, Autophagy - animal, mTOR signaling pathway, PI3K-Akt signaling pathway, Apoptosis, Cellular senescence, Adrenergic signaling in cardiomyocytes, Vascular smooth muscle contraction, TGF-beta signaling pathway, Axon guidance, VEGF signaling pathway, Apelin signaling pathway, Osteoclast differentiation, Focal adhesion, Adherens junction, Gap junction, Signaling pathways regulating pluripotency of stem cells, Platelet activation, Toll-like receptor signaling pathway, NOD-like receptor signaling pathway, C-type lectin receptor signaling pathway, Natural killer cell mediated cytotoxicity, IL-17 signaling pathway, Th1 and Th2 cell differentiation, Th17 cell differentiation, 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, Relaxin signaling pathway, Parathyroid hormone synthesis, secretion and action, Type II diabetes mellitus, AGE-RAGE signaling pathway in diabetic complications, Cushing syndrome, Aldosterone-regulated sodium reabsorption, Alzheimer disease, Prion diseases, Alcoholism, Shigellosis, Salmonella infection, Pertussis, Yersinia infection, Leishmaniasis, Chagas disease (American trypanosomiasis), Toxoplasmosis, Tuberculosis, Hepatitis C, Hepatitis B, Human cytomegalovirus infection, Influenza A, Human papillomavirus infection, Human T-cell leukemia virus 1 infection, Kaposi sarcoma-associated herpesvirus infection, Human immunodeficiency virus 1 infection, Pathways in cancer, Viral carcinogenesis, Proteoglycans in cancer, Colorectal cancer, Renal cell carcinoma, Pancreatic cancer, Endometrial cancer, Glioma, Prostate cancer, Thyroid cancer, Melanoma, Bladder cancer, Chronic myeloid leukemia, Acute myeloid leukemia, Non-small cell lung cancer, Breast cancer, Hepatocellular carcinoma, Gastric cancer, Central carbon metabolism in cancer, Choline metabolism in cancer, PD-L1 expression and PD-1 checkpoint pathway in cancer, MAPK3 (ERK1) activation, RAF-independent MAPK1/3 activation, ISG15 antiviral mechanism, Spry regulation of FGF signaling, Golgi Cisternae Pericentriolar Stack Reorganization, Frs2-mediated activation, ERK/MAPK targets, ERKs are inactivated, Regulation of actin dynamics for phagocytic cup formation, Oxidative Stress Induced Senescence, Senescence-Associated Secretory Phenotype (SASP), Oncogene Induced Senescence, FCERI mediated MAPK activation, Regulation of HSF1-mediated heat shock response, NCAM signaling for neurite out-growth, Signal transduction by L1, Activation of the AP-1 family of transcription factors, Thrombin signalling through proteinase activated receptors (PARs), Negative regulation of FGFR1 signaling, Negative regulation of FGFR2 signaling, Negative regulation of FGFR3 signaling, Negative regulation of FGFR4 signaling, RHO GTPases Activate WASPs and WAVEs, RHO GTPases Activate NADPH Oxidases, RAF/MAP kinase cascade, MAP2K and MAPK activation, Negative feedback regulation of MAPK pathway, Negative regulation of MAPK pathway, Signaling by moderate kinase activity BRAF mutants, Signaling by high-kinase activity BRAF mutants, Signaling by BRAF and RAF fusions, Paradoxical activation of RAF signaling by kinase inactive BRAF, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling, RNA Polymerase I Promoter Opening, Signal attenuation, Gastrin-CREB signalling pathway via PKC and MAPK, ESR-mediated signaling, Regulation of PTEN gene transcription, Regulation of the apoptosome activity, Suppression of apoptosis, Signaling downstream of RAS mutants, FCGR3A-mediated phagocytosis, Growth hormone receptor signaling Cardiomyopathy, Lung Cancer, Mental Depression, Renal Cancer, Neuronal ceroid lipofuscinosis, Prostate cancer, Myocardial Diseases, Cholestasis, Stomach Cancer, Trigeminal neuralgia, Ovarian Cancer, Head and Neck Neoplasms, Schizophrenia, Digestive Track Neoplasms, Gastric Cancer, Cerebral Ischemia, Neck Neoplasms, Head Neoplasms, Carcinoma, Subfertility, Female, Pneumonia, PCOS, Preeclampsia
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MAPK9 Mitogen-activated protein kinase 9 Endocrine resistance, MAPK signaling pathway, ErbB signaling pathway, Ras signaling pathway, cAMP signaling pathway, FoxO signaling pathway, Sphingolipid signaling pathway, Mitophagy - animal, Autophagy - animal, Protein processing in endoplasmic reticulum, Apoptosis, Apoptosis - multiple species, Necroptosis, Wnt signaling pathway, Osteoclast differentiation, Focal adhesion, Tight junction, Toll-like receptor signaling pathway, NOD-like receptor signaling pathway, RIG-I-like receptor signaling pathway, C-type lectin receptor signaling pathway, IL-17 signaling pathway, Th1 and Th2 cell differentiation, Th17 cell differentiation, T cell receptor signaling pathway, Fc epsilon RI signaling pathway, TNF signaling pathway, Neurotrophin signaling pathway, Retrograde endocannabinoid signaling, Dopaminergic synapse, Inflammatory mediator regulation of TRP channels, Insulin signaling pathway, GnRH signaling pathway, Progesterone-mediated oocyte maturation, Prolactin signaling pathway, Adipocytokine signaling pathway, Relaxin signaling pathway, Type II diabetes mellitus, Insulin resistance, Non-alcoholic fatty liver disease (NAFLD), AGE-RAGE signaling pathway in diabetic complications, Epithelial cell signaling in Helicobacter pylori infection, Shigellosis, Salmonella infection, Pertussis, Yersinia infection, Chagas disease (American trypanosomiasis), Toxoplasmosis, Tuberculosis, Hepatitis B, Measles, Human T-cell leukemia virus 1 infection, Kaposi sarcoma-associated herpesvirus infection, Epstein-Barr virus infection, Human immunodeficiency virus 1 infection, Pathways in cancer, Colorectal cancer, Pancreatic cancer, Choline metabolism in cancer, Fluid shear stress and atherosclerosis, Oxidative Stress Induced Senescence, FCERI mediated MAPK activation, JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1, Activation of the AP-1 family of transcription factors Trigeminal neuralgia, Cholestasis, PCOS, Obstructive Sleep Apnea
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PTEN Phosphatase and tensin homolog Inositol phosphate metabolism, Metabolic pathways, EGFR tyrosine kinase inhibitor resistance, FoxO signaling pathway, Phosphatidylinositol signaling system, Sphingolipid signaling pathway, p53 signaling pathway, Autophagy - animal, mTOR signaling pathway, PI3K-Akt signaling pathway, Cellular senescence, Focal adhesion, Insulin resistance, Human papillomavirus infection, Human T-cell leukemia virus 1 infection, Pathways in cancer, MicroRNAs in cancer, Endometrial cancer, Glioma, Prostate cancer, Melanoma, Small cell lung cancer, Breast cancer, Hepatocellular carcinoma, Central carbon metabolism in cancer, PD-L1 expression and PD-1 checkpoint pathway in cancer, Synthesis of PIPs at the plasma membrane, Synthesis of IP3 and IP4 in the cytosol, Negative regulation of the PI3K/AKT network, Downstream TCR signaling, TP53 Regulates Metabolic Genes, PTEN Loss of Function in Cancer, Ub-specific processing proteases, Ovarian tumor domain proteases, Regulation of PTEN mRNA translation, Regulation of PTEN localization, Regulation of PTEN stability and activity, Transcriptional Regulation by MECP2 Lhermitte-Duclos disease, Heriditary Neoplastic Syndrome, Prostate cancer, Endometrial Cancer, PTEN Hamartoma Tumor Syndrome, Lipomatosis, Adenocarcinoma, Genetic Diseases, Lung Cancer, Meningioma, Ovarian Cancer, Nasopharyngeal Cancer, Pancreatic Neoplasm, Carcinoma, Autistic Disorder, Cerebellar Granule Cell Hypertrophy and Megalencephaly, Brain Neoplasms, Glioma, Intellectual Disability, Language Development Disorder, Neurodevelopmental Disorders, Proteus Syndrome, Anisometropia, Cribriform Carcinoma, Colorectal Cancer, Cerebelloparenchymal Disorder VI, Prostatic Intraepithelial Neoplasias, Central Auditory Processing Disorder, Bannayan-Riley-Ruvalcaba Syndrome, Adenoid Cystic Carcinoma, Breast Cancer, Glioblastoma, Hypertensive disease, Asthma, Hemangioma, Semantic-Pragmatic Disorder, Head Neoplasms, Adenoma, Macrocephaly/autism syndrome, Dermatitis, Lymphoma, Intrahepatic Cholangiocarcinoma, Hibernoma, Endometrial Hyperplasia, Radial Club Hand, Child Development Deviations, Lipoma, Extrahepatic Cholangiocarcinoma, Renal Cancer, Fatty Liver, Hydrocephalus, Motor Skills Disorders, Chorioangioma, Developmental Disabilities, Liver Cancer, Thyroid Cancer, Mouth Neoplasms, Gastrointestinal Cancer, Adenocarcinoma of Prostate, VACTERL Association, Long QT Syndrome, Angioma, Cholangiocarcinoma, Multiple congenital anomalies, Gastric Cancer, Bladder Cancer, Ctaneous Melanoma, Leukemia, LEOPARD Syndrome, Anaplastic Carcinoma, Polydactyly, PCOS, Vulvar Cancer, Preeclampsia
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S100A9 S100 calcium binding protein A9 IL-17 signaling pathway, RHO GTPases Activate NADPH Oxidases, Regulation of TLR by endogenous ligand, Neutrophil degranulation, Metal sequestration by antimicrobial proteins Respiratory Distress Syndrome, Colonic Neoplasms, Schizophrenia, PCOS
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S100A12 S100 calcium binding protein A12 TAK1 activates NFkB by phosphorylation and activation of IKKs complex, Neutrophil degranulation, Advanced glycosylation endproduct receptor signaling, TRAF6 mediated NF-kB activation PCOS, Pulmonary Edema, Hemorrhages, Osteolysis, Atherosclerosis, Pulmonary Hypertension, Pulmonary Tuberculosis, Cardiovascular Abnormalities, Blau Syndrome, Gastric Cancer, Acute Coronary Syndrome, Hypercholesterolemia, Huntington Disease, Pancreatitis, Bladder Cancer, Multiple Sclerosis, Aortic valve calcification, Uveitis, Skin Fibrosis, Psoriasis, Carotid Artery Diseases, Biliary Cirrhosis, Carcinoma, Infertility, Juvenile arthritis, Aortic Aneurysm, Brain Infarction, Kidney Insufficiency, Heart Failure, Osteoarthritis, Pneumonia, Synovitis, Kawasaki disease, Otitis, Inflammatory Bowel Diseases, Colitis, Transient Ischemic Attack, Coronary heart disease, Stroke
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SET SET nuclear proto-oncogene Condensation of Prophase Chromosomes, HuR (ELAVL1) binds and stabilizes mRNA PCOS, Medulloblastoma
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SGTA Small glutamine rich tetratricopeptide repeat containing alpha Insertion of tail-anchored proteins into the endoplasmic reticulum membrane Ovarian Cancer, Esophagus Neoplasm, Prostate cancer, Prostate Carcinoma, PCOS
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SOD1 Superoxide dismutase 1 Peroxisome, Longevity regulating pathway - multiple species, Amyotrophic lateral sclerosis (ALS), Huntington disease, Prion diseases, Platelet degranulation , Detoxification of Reactive Oxygen Species, Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation Lateral Sclerosis, Transient Ischemic Attack, Heart Failure, Hypertensive disease, Liver Diseases, Motor Neuron Disease, Glioma, Asthma, Down Syndrome, Fatty Liver, Chronic hepatitis, Stroke, Mental Depression, Marfan Syndrome, Spina Bifida, Diabetic Retinopathy, Pulmonary Fibrosis, Atherosclerosis, Parkinson Disease, Kidney Failure, Schizophrenia, Hepatitis, Brain Ischemia, Hyperthyroidism, Alcoholic fatty liver, Obesity, Asphyxia Neonatorum, Cerebral Ischemia, Turner Syndrome, Ovarian Cancer, Myocardial Failure, Melancholia, Nephrosis, Anemia, Kidney Calculi, Myocardial Infarction, Bipolar Disorder, Kearns-Sayre syndrome, Diabetes Mellitus , Protein Deficiency, Kidney Insufficiency, Dermatitis, Gait Disorders, Aortic Diseases, Ureteral Calculi, MELAS Syndrome, Deficiency Diseases, Anterior Horn Cell Disease, PCOS, Obstructive Sleep Apnea
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SREBF1 Sterol regulatory element binding transcription factor 1 AMPK signaling pathway, Insulin signaling pathway, Insulin resistance, Non-alcoholic fatty liver disease (NAFLD), RORA activates gene expression, Regulation of cholesterol biosynthesis by SREBP (SREBF), PPARA activates gene expression, Activation of gene expression by SREBF (SREBP), NR1H2 & NR1H3 regulate gene expression linked to lipogenesis Liver Cancer, Obesity, Kidney Failure, Diabetes Mellitus , Parkinson Disease, Breast Cancer, Fatty Liver, Non-alcoholic Fatty Liver Disease, Schizophrenia, PCOS, Obstructive Sleep Apnea, Gluocose Intolerance
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SRF Serum response factor MAPK signaling pathway, cGMP-PKG signaling pathway, Human T-cell leukemia virus 1 infection, Viral carcinogenesis, RHO GTPases Activate Formins, NGF-stimulated transcription, Estrogen-dependent nuclear events downstream of ESR-membrane signaling Fetal Alcohol Syndrome, HIV Infections, HIV Coinfection, PCOS
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STAT3 Signal transducer and activator of transcription 3 EGFR tyrosine kinase inhibitor resistance, Chemokine signaling pathway, HIF-1 signaling pathway, FoxO signaling pathway, Necroptosis, Signaling pathways regulating pluripotency of stem cells, JAK-STAT signaling pathway, Th17 cell differentiation, Prolactin signaling pathway, Adipocytokine signaling pathway, Insulin resistance, AGE-RAGE signaling pathway in diabetic complications, Toxoplasmosis, Hepatitis C, Hepatitis B, Measles, Human cytomegalovirus infection, Kaposi sarcoma-associated herpesvirus infection, Epstein-Barr virus infection, Pathways in cancer, Viral carcinogenesis, Proteoglycans in cancer, MicroRNAs in cancer, Pancreatic cancer, Acute myeloid leukemia, Non-small cell lung cancer, PD-L1 expression and PD-1 checkpoint pathway in cancer, Inflammatory bowel disease (IBD), Interleukin-6 signaling, BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members, Interleukin-7 signaling, Signaling by SCF-KIT, Signaling by cytosolic FGFR1 fusion mutants, Downstream signal transduction, Senescence-Associated Secretory Phenotype (SASP), POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation, Transcriptional regulation of pluripotent stem cells, Interleukin-10 signaling, Interleukin-4 and Interleukin-13 signaling, PTK6 Activates STAT3, Interleukin-20 family signaling, MET activates STAT3, Interleukin-15 signaling, Interleukin-35 Signalling, Interleukin-9 signaling, Interleukin-37 signaling, Interleukin-23 signaling, Interleukin-27 signaling, Interleukin-21 signaling, Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants, Signaling by PDGFRA extracellular domain mutants Cardiomyopathy, Adenocarcinoma, Lung Cancer, Genetic Diseases, Hyperimmunoglobulin E syndrome, Spondylitis, Carcinoma, Multiple Sclerosis, Medulloblastoma, Inflammatory Bowel Diseases, Dermatitis, Leukemia, Head Neoplasms, Stomach Cancer, Cerebral Ischemia, Cerebral Artery Infarction, Ketosis-prone diabetes, Prostate cancer, Memory Disorders, Crohn Disease, Ovarian Cancer, Brain Infarction, Colitis, Middle Cerebral Artery Syndrome, Diabetes Mellitus , Pancreatic Neoplasm, Anaplastic Carcinoma, Meniere Disease, Autoimmune Diseases, Psoriasis, Juvenile arthritis, Cerebral Thrombosis, Craniosynostosis, Endometrial Cancer, Liver Cancer, Lymphoma, Still Disease, Chronic hepatitis, Breast Cancer, Brittle diabetes, Pustulosis, Atherosclerosis, Cholangitis, Cancer Metastasis, Mental Depression, Autoimmune Diabetes, Myocardial Diseases, Cervical Cancer, Myeloid Leukemia, Congenital diaphragmatic hernia, Liver Cirrhosis, Asthma, Colonic Neoplasms, Cribriform Carcinoma, Gastric Cancer, PCOS
Nucleus
STK11 Serine/threonine kinase 11 FoxO signaling pathway, Autophagy - animal, mTOR signaling pathway, PI3K-Akt signaling pathway, AMPK signaling pathway, Longevity regulating pathway, Tight junction, Adipocytokine signaling pathway, Energy dependent regulation of mTOR by LKB1-AMPK, Regulation of TP53 Activity through Phosphorylation, FOXO-mediated transcription of cell death genes Heriditary Neoplastic Syndrome, Peutz-Jeghers Syndrome, Gastrointestinal Cancer, Adenocarcinoma, Breast Cancer, Genetic Diseases, Cronkhite-Canada Syndrome, Genital Neoplasms, Male, Lung Cancer, Nongerminomatous Germ Cell Tumor, Cervical Cancer, Peutz Jehgers Polyp, Stomach Carcinoma, Intestinal Polyposis, Pancreatic Neoplasm, Yolk Sac Tumor, Seminoma, Carcinoma, Spermatocytic seminoma, Colorectal Cancer, Ovarian Cancer, Left Ventricular Hypertrophy, Cribriform Carcinoma, Hypertensive disease, PCOS
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TCF4 Transcription factor 4 Myogenesis Pitt-Hopkins Syndrome, Atonic seizures, Intellectual Disability, Neurodevelopmental Disorders, Heart Diseases, Bipolar Disorder, Seizures, Liver Cancer, Schizophrenia, Genetic Diseases, Autistic Disorder, Attention Deficit Disorder, Microcephaly, Non-organic psychosis, Microlissencephaly, Fuchs Endothelial Dystrophy, Neuropathy, Cholangitis, Paranoia, Psychosis, Mental Depression, Jacksonian Seizure, PCOS, Gluocose Intolerance
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HNF1A HNF1 homeobox A Maturity onset diabetes of the young Diabetes Insipidus , Diabetes Mellitus , Hypoglycemia, Coronary heart disease, Monogenic Diabetes, Pancreatic Neoplasm, Arteriosclerosis, Ischemic Cardiomyopathy, Myocardial Infarction, Hyperinsulinism, PCOS
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TCF7L2 Transcription factor 7 like 2 Wnt signaling pathway, Hippo signaling pathway, Adherens junction, Melanogenesis, Cushing syndrome, Human papillomavirus infection, Pathways in cancer, Colorectal cancer, Endometrial cancer, Prostate cancer, Thyroid cancer, Basal cell carcinoma, Acute myeloid leukemia, Breast cancer, Hepatocellular carcinoma, Gastric cancer, Arrhythmogenic right ventricular cardiomyopathy (ARVC), Formation of the beta-catenin:TCF transactivating complex, Deactivation of the beta-catenin transactivating complex, Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1), Ca2+ pathway, Binding of TCF/LEF:CTNNB1 to target gene promoters, Repression of WNT target genes, TCF7L2 mutants don't bind CTBP, Transcriptional Regulation by VENTX, RUNX3 regulates WNT signaling Diabetes Mellitus , Metabolic Syndrome X, Adenocarcinoma, Still Disease, Schizophrenia, Stroke, Breast Cancer, Bipolar Disorder, Schizoaffective Disorder, Juvenile arthritis, Colorectal Cancer, Carcinoma, Cribriform Carcinoma, Heart Failure, Coronary heart disease, Arteriosclerosis, Atrial Fibrillation, Neurodevelopmental Disorders, Colonic Neoplasms, Adenocarcinoma Of Large Intestine, PCOS, Obstructive Sleep Apnea, Gluocose Intolerance
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TGFB1 Transforming growth factor beta 1 MAPK signaling pathway, Cytokine-cytokine receptor interaction, FoxO signaling pathway, Cell cycle, Cellular senescence, TGF-beta signaling pathway, Osteoclast differentiation, Hippo signaling pathway, Th17 cell differentiation, Intestinal immune network for IgA production, Relaxin signaling pathway, Non-alcoholic fatty liver disease (NAFLD), AGE-RAGE signaling pathway in diabetic complications, Leishmaniasis, Chagas disease (American trypanosomiasis), Malaria, Toxoplasmosis, Amoebiasis, Tuberculosis, Hepatitis B, Human T-cell leukemia virus 1 infection, Pathways in cancer, Proteoglycans in cancer, Colorectal cancer, Renal cell carcinoma, Pancreatic cancer, Chronic myeloid leukemia, Hepatocellular carcinoma, Gastric cancer, Inflammatory bowel disease (IBD), Rheumatoid arthritis, Hypertrophic cardiomyopathy (HCM), Dilated cardiomyopathy (DCM), Platelet degranulation , Influenza Virus Induced Apoptosis, Cell surface interactions at the vascular wall, Molecules associated with elastic fibres, Downregulation of TGF-beta receptor signaling, TGF-beta receptor signaling activates SMADs, TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition), Syndecan interactions, SMAD2/3 Phosphorylation Motif Mutants in Cancer, TGFBR2 MSI Frameshift Mutants in Cancer, TGFBR2 Kinase Domain Mutants in Cancer, TGFBR1 KD Mutants in Cancer, TGFBR1 LBD Mutants in Cancer, Interleukin-4 and Interleukin-13 signaling, RUNX3 regulates CDKN1A transcription, Regulation of RUNX3 expression and activity, RUNX3 regulates p14-ARF Non-organic psychosis, Psychosis, Pulmonary Fibrosis, Nephrotic Syndrome, Glomerulosclerosis, Camurati-Engelmann Syndrome, Chronic hepatitis, Pneumonia, Glomerular Hyalinosis, Peritoneal Fibrosis, Osteoporosis, Adenocarcinoma, Pulmonary Emphysema, Leukoencephalopathies, Autoimmune Hepatitis, Lung Cancer, Duodenal Ulcer, Inflammatory Bowel Diseases, Diabetic Neuralgia, Diabetic Neuropathies, Liver Cirrhosis, Diabetic Nephropathy, Hypertensive disease, Non-alcoholic Fatty Liver Disease, Sarcoidosis, Neonatal disorder, Skeletal Dysplasia, Diabetes Mellitus , Tumoral calcinosis, Kidney Failure, Prostate cancer, Carcinoma, Schizophrenia, Muscular Dystrophy, Airway Obstruction, Epilepsy, Papilloma, Gastric ulcer, Cholestasis, Thrombocytopenia, Myocardial Infarction, Asthma, Stroke, Urticaria, Myopathy, Emphysema, Colorectal Cancer, Arteriosclerosis, Pancreatic Neoplasm, Bipolar Disorder, Aortic Valve Insufficiency, Cleft palate, Ischemic Cardiomyopathy, Carcinosarcoma, Adenocarcinoma Of Large Intestine, Kidney Insufficiency, Oral submucosal fibrosis, Intervertebral Disc Degeneration, Anaplastic Carcinoma, Liver Fibrosis, Glomerulonephritis, Encapsulating Peritoneal Sclerosis, Skin Cancer, Dry Eye Syndromes, Beryllium Disease, Cribriform Carcinoma, Pleural Diseases, Migraine, Mood Disorders, Thrombocytosis, Liver Cancer, Encephalopathies, Uremia, Peyronie Disease, Mental Depression, Chronic Obstructive Pulmonary Disease, PCOS, Vulvar Cancer, Obstructive Sleep Apnea, Preeclampsia
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TP53 Tumor protein p53 Endocrine resistance, Platinum drug resistance, MAPK signaling pathway, Sphingolipid signaling pathway, Cell cycle, p53 signaling pathway, Mitophagy - animal, PI3K-Akt signaling pathway, Apoptosis, Longevity regulating pathway, Ferroptosis, Cellular senescence, Wnt signaling pathway, Neurotrophin signaling pathway, Thyroid hormone signaling pathway, Amyotrophic lateral sclerosis (ALS), Huntington disease, Hepatitis C, Hepatitis B, Measles, Human cytomegalovirus infection, Human papillomavirus infection, Human T-cell leukemia virus 1 infection, Kaposi sarcoma-associated herpesvirus infection, Herpes simplex virus 1 infection, Epstein-Barr virus infection, Pathways in cancer, Transcriptional misregulation in cancer, Viral carcinogenesis, Proteoglycans in cancer, MicroRNAs in cancer, Colorectal cancer, Pancreatic cancer, Endometrial cancer, Glioma, Prostate cancer, Thyroid cancer, Basal cell carcinoma, Melanoma, Bladder cancer, Chronic myeloid leukemia, Small cell lung cancer, Non-small cell lung cancer, Breast cancer, Hepatocellular carcinoma, Gastric cancer, Central carbon metabolism in cancer, Fluid shear stress and atherosclerosis, Activation of NOXA and translocation to mitochondria, Activation of PUMA and translocation to mitochondria, Pre-NOTCH Transcription and Translation, Oxidative Stress Induced Senescence, Formation of Senescence-Associated Heterochromatin Foci (SAHF), Oncogene Induced Senescence, DNA Damage/Telomere Stress Induced Senescence, SUMOylation of transcription factors, Autodegradation of the E3 ubiquitin ligase COP1, TP53 Regulates Metabolic Genes, Ub-specific processing proteases, Ovarian tumor domain proteases, Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, Interleukin-4 and Interleukin-13 signaling, TP53 Regulates Transcription of DNA Repair Genes, TP53 Regulates Transcription of Genes Involved in Cytochrome C Release, TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain, TP53 Regulates Transcription of Caspase Activators and Caspases, TP53 Regulates Transcription of Death Receptors and Ligands, TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest, TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain, TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest, Regulation of TP53 Expression, Regulation of TP53 Activity through Phosphorylation, Regulation of TP53 Degradation, Regulation of TP53 Activity through Acetylation, Regulation of TP53 Activity through Association with Co-factors, Regulation of TP53 Activity through Methylation, PI5P Regulates TP53 Acetylation, G2/M DNA damage checkpoint, G2/M Checkpoints, Stabilization of p53, Transcriptional activation of cell cycle inhibitor p21 , The role of GTSE1 in G2/M progression after G2 checkpoint, Transcriptional Regulation by VENTX, RUNX3 regulates CDKN1A transcription, Regulation of PTEN gene transcription Ovarian Cancer, Glioma, Li-Fraumeni Syndrome, Breast Cancer, Prostate cancer, Genital Neoplasms, Male, Heriditary Neoplastic Syndrome, Colonic Neoplasms, Adrenal Cancer, Renal Cancer, Leukemia, Lung Cancer, Bladder Cancer, Nasopharyngeal Cancer, Carcinoma, Moyamoya disease, Cardiomyopathy, Stomach Cancer, Nephroblastoma, Colorectal Cancer, Adenocarcinoma, Central Nervous System Neoplasms, Intestinal Cancer, Thymoma, Thyroid Cancer, Endometrial Cancer, Osteosarcoma, Chromosome 17p Deletion Syndrome, Intrahepatic Cholangiocarcinoma, Liver Cancer, Head Neoplasms, Choroid Plexus Carcinoma, Lymphoma, Neuroblastoma, Choroid Plexus Papilloma, Male infertility, Demyelinating Diseases, Adenoma, Gall Bladder Cancer, Cribriform Carcinoma, Keratosis, Extrahepatic Cholangiocarcinoma, Sarcoma, Brain Stem Glioma, Adenocarcinoma of Prostate, Gastric Cancer, Mouth Neoplasms, Glioblastoma Multiforme, Esophagus Neoplasm, Anemia, Pancreatic Neoplasm, Genitourinary Cancer, Ctaneous Melanoma, Medulloblastoma, Arsenic Encephalopathy, Airway Obstruction, Carotid Artery Diseases, Psoriasis, Kidney Insufficiency, Hypertensive disease, Liver Diseases, Lateral Sclerosis, Multiple Myeloma, Hepatoblastoma, Bilateral Wilms Tumor, Head and Neck Neoplasms, Myelodysplastic Syndrome, Skin Cancer, Adenocarcinoma Of Pancreas, Adenoid Cystic Carcinoma, Chronic Obstructive Pulmonary Disease, Astrocytoma, Pustulosis, Balkan Nephropathy, Cerebral Ischemia, Leukemia, megakaryoblastic, of Down syndrome, Vulvar Lichen Sclerosus, Carotid Atherosclerosis, Subfertility, Female, Kidney Failure, Cholangiocarcinoma, Hematologic Neoplasms, Schizophrenia, Anaplastic Carcinoma, Glioblastoma, Urinary Tract Cancer, Brain Neoplasms, Hemangioma, Carcinoma of Skin, PCOS, Vulvar Cancer, Preeclampsia
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TPI1 Triosephosphate isomerase 1 Glycolysis / Gluconeogenesis, Fructose and mannose metabolism, Inositol phosphate metabolism, Metabolic pathways, Carbon metabolism, Biosynthesis of amino acids, Glycolysis, Gluconeogenesis Triosephosphate Isomerase Deficiency, Alzheimer Disease, Anemia, Senile Dementia, Esophagus Neoplasm, Inborn Errors of Metabolism, Osteoporosis, Carcinoma, Mouth Neoplasms, Schizophrenia, Lung Cancer, Foley-Denny-Brown Syndrome, PCOS
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HSP90B1 Heat shock protein 90 beta family member 1 Protein processing in endoplasmic reticulum, PI3K-Akt signaling pathway, IL-17 signaling pathway, Estrogen signaling pathway, Thyroid hormone synthesis, Pathways in cancer, Prostate cancer, Fluid shear stress and atherosclerosis, Trafficking and processing of endosomal TLR, Scavenging by Class A Receptors, ATF6 (ATF6-alpha) activates chaperone genes, Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), Interleukin-4 and Interleukin-13 signaling, Post-translational protein phosphorylation Prostate cancer, Bipolar Disorder, PCOS
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UGP2 UDP-glucose pyrophosphorylase 2 Pentose and glucuronate interconversions, Galactose metabolism, Starch and sucrose metabolism, Amino sugar and nucleotide sugar metabolism, Metabolic pathways, Formation of the active cofactor, UDP-glucuronate, Glycogen synthesis Liver Cancer, PCOS
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VDR Vitamin D receptor Parathyroid hormone synthesis, secretion and action, Endocrine and other factor-regulated calcium reabsorption, Mineral absorption, Tuberculosis, Vitamin D (calciferol) metabolism, Nuclear Receptor transcription pathway, SUMOylation of intracellular receptors Breast Cancer, Carcinoma, Rickets, Narcolepsy, Schizophrenia, Multiple Sclerosis, Hypertensive disease, Brain Infarction, Single-Gene Defects, Alopecia, Epilepsy, Hereditary Diseases, Vitamin D Deficiency, Bipolar Disorder, Prostate cancer, Genetic Diseases, Uremia, Choroidal Artery Infarction, Leukemia, Gout, PCOS, Obstructive Sleep Apnea, Gluocose Intolerance, Preeclampsia
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WT1 WT1 transcription factor Transcriptional misregulation in cancer Osteosarcoma, WAGR Syndrome, Denys-Drash Syndrome, Frasier Syndrome, Diffuse mesangial sclerosis, Lung Cancer, Glioblastoma, Glomerulonephritis, Meacham Syndrome, Myeloid Leukemia, Nephroblastoma, Pancreatic Neoplasm, Congenital diaphragmatic hernia, Leukemia, Gonadotropin-Resistant Ovary Syndrome, Anemia, Mesothelioma, Glioblastoma Multiforme, Colonic Neoplasms, Breast Cancer, Peritoneal Neoplasms, Ovarian Failure, Nephritis, Bilateral Wilms Tumor, Neurilemmoma, Nephrotic Syndrome, Schwannomatosis, Malignant Peripheral Nerve Sheath Tumor, PCOS
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XPA XPA, DNA damage recognition and repair factor Platinum drug resistance, Nucleotide excision repair, Formation of Incision Complex in GG-NER, Dual Incision in GG-NER, Formation of TC-NER Pre-Incision Complex, Dual incision in TC-NER Xeroderma Pigmentosum, Intellectual Disability, Skin Cancer, Liver Cancer, Carcinoma, Intestinal Cancer, PCOS
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ZBTB16 Zinc finger and BTB domain containing 16 Pathways in cancer, Transcriptional misregulation in cancer, Acute myeloid leukemia, Neddylation, Antigen processing: Ubiquitination & Proteasome degradation Leukemia, Central Nervous System Neoplasms, Asthma, Skeletal Defects, Genital Hypoplasia, And Mental Retardation, Autistic Disorder, Prostate cancer, Intellectual Disability, Mental Depression, Glioma, PCOS
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HMGA2 High mobility group AT-hook 2 Transcriptional misregulation in cancer, MicroRNAs in cancer, Formation of Senescence-Associated Heterochromatin Foci (SAHF) Diabetes Mellitus , Lipoma, Russell-Silver syndrome, PCOS, Vulvar Cancer
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OGT O-linked N-acetylglucosamine (GlcNAc) transferase Other types of O-glycan biosynthesis, Insulin resistance, HATs acetylate histones, UCH proteinases Mental Retardation, Intellectual Disability, PCOS
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AKR1C3 Aldo-keto reductase family 1 member C3 Steroid hormone biosynthesis, Arachidonic acid metabolism, Folate biosynthesis, Metabolic pathways, Ovarian steroidogenesis, Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol, Synthesis of bile acids and bile salts via 24-hydroxycholesterol, Synthesis of bile acids and bile salts via 27-hydroxycholesterol, Synthesis of Prostaglandins (PG) and Thromboxanes (TX), RA biosynthesis pathway, Retinoid metabolism and transport Prostate cancer, Ovarian Cancer, Disorders of Sex Development, Stomach Cancer, Hermaphroditism, Endometrial Cancer, Bipolar Disorder, Pseudohermaphroditism, Endometriosis, Endometrioma, Gastric Cancer, Ambiguous Genitalia, Intersex Conditions, Obesity, Sex Differentiation Disorders, PCOS, Preeclampsia
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HDAC3 Histone deacetylase 3 Thyroid hormone signaling pathway, Alcoholism, Viral carcinogenesis, PPARA activates gene expression, Transcriptional activation of mitochondrial biogenesis, Constitutive Signaling by NOTCH1 PEST Domain Mutants, Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants, HDACs deacetylate histones, Notch-HLH transcription pathway, Transcriptional regulation of white adipocyte differentiation, Regulation of lipid metabolism by PPARalpha, Circadian Clock, NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux, HCMV Early Events Schizophrenia, Heart Diseases, PCOS
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FUBP1 Far upstream element binding protein 1 PCOS, Neuroblastoma, Renal Cancer, Muscular Dystrophy, Liver Cancer, Oligodendroglioma, Squamous Cell Carcinoma, Glioma, Gastric Cancer, Lymphoma, Astrocytoma
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SMC3 Structural maintenance of chromosomes 3 Cell cycle, Oocyte meiosis, Separation of Sister Chromatids, Establishment of Sister Chromatid Cohesion, Cohesin Loading onto Chromatin, Resolution of Sister Chromatid Cohesion, SUMOylation of DNA damage response and repair proteins, Estrogen-dependent gene expression Cornelia de Lange syndrome, Intellectual Disability, Anemia, Microcephaly, Leukemia, Myeloid Leukemia, Neurodevelopmental Disorders, Wiedemann-Steiner syndrome, Radial Club Hand, PCOS
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AIFM1 Apoptosis inducing factor mitochondria associated 1 Apoptosis, Necroptosis PCOS, Alzheimer Disease, Neurodevelopmental Disorders, Neuropathy, Childhood Ataxia with Central Nervous System Hypomyelinization, MELAS Syndrome, Frontometaphyseal dysplasia, Spinocerebellar ataxia, Encephalopathies, Cardiovascular Abnormalities, Charcot-Marie-Tooth Disease, Cognition Disorders, Cardiomyopathy, Skin Cancer
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CLOCK Clock circadian regulator Circadian rhythm, Dopaminergic synapse, BMAL1:CLOCK,NPAS2 activates circadian gene expression Bipolar Disorder, Mental Depression, Seasonal Affective Disorder, Mood Disorders, Schizophrenia, Delirium, PCOS
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NCOR1 Nuclear receptor corepressor 1 Endocrine resistance, Thyroid hormone signaling pathway, Transcriptional misregulation in cancer, Nuclear signaling by ERBB4, PPARA activates gene expression, Transcriptional activation of mitochondrial biogenesis, Downregulation of SMAD2/3:SMAD4 transcriptional activity, Constitutive Signaling by NOTCH1 PEST Domain Mutants, Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants, HDACs deacetylate histones, Notch-HLH transcription pathway, Transcriptional regulation of white adipocyte differentiation, Nuclear Receptor transcription pathway, Regulation of lipid metabolism by PPARalpha, Circadian Clock, NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux, HCMV Early Events, NR1H2 & NR1H3 regulate gene expression to control bile acid homeostasis Breast Cancer, Prostate cancer, Carcinoma, Glioblastoma, Hyperbilirubinemia, Endometrioma, Bladder Cancer, Glioblastoma Multiforme, Liver Cancer, Endometriosis, PCOS
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SRA1 Steroid receptor RNA activator 1 Prostate Carcinoma, PCOS
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FEM1B Fem-1 homolog B Neddylation PCOS, Leukemia, Bardet Biedl Syndrome, Colonic Neoplasms, Pulmonary Fibrosis, Lymphoma
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YAP1 Yes1 associated transcriptional regulator Hippo signaling pathway, Hippo signaling pathway - multiple species, Nuclear signaling by ERBB4, Signaling by Hippo, YAP1- and WWTR1 (TAZ)-stimulated gene expression, RUNX1 regulates transcription of genes involved in differentiation of HSCs, RUNX3 regulates YAP1-mediated transcription, EGR2 and SOX10-mediated initiation of Schwann cell myelination Congenital ocular coloboma, Brain Neoplasms, Breast Cancer, Head Neoplasms, Coloboma, Uveal, with Cleft Lip and Palate and Mental Retardation, Ovarian Cancer, Intellectual Disability, Neoplasms, Neuroblastoma, Migraine, PCOS
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PIBF1 Progesterone immunomodulatory binding factor 1 Joubert Syndrome, Familial aplasia of the vermis, PCOS
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SORBS1 Sorbin and SH3 domain containing 1 PPAR signaling pathway, Adherens junction, Insulin signaling pathway, Smooth Muscle Contraction Diabetic Retinopathy, Diabetes Mellitus , PCOS
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KHDRBS3 KH RNA binding domain containing, signal transduction associated 3 PTK6 Regulates Proteins Involved in RNA Processing Breast Cancer, Medulloblastoma, PCOS
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PPARGC1A PPARG coactivator 1 alpha AMPK signaling pathway, Longevity regulating pathway, Apelin signaling pathway, Thermogenesis, Insulin signaling pathway, Adipocytokine signaling pathway, Glucagon signaling pathway, Insulin resistance, Huntington disease, PPARA activates gene expression, Transcriptional activation of mitochondrial biogenesis, Transcriptional regulation of white adipocyte differentiation, Circadian Clock, Regulation of RUNX2 expression and activity Diabetes Mellitus , Heart Failure, Myocardial Failure, Myocardial Infarction, Neuronal ceroid lipofuscinosis, Lateral Sclerosis, Schizophrenia, PCOS
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TNIK TRAF2 and NCK interacting kinase Oxidative Stress Induced Senescence Dermatitis, Juvenile arthritis, Mental Retardation, Schizophrenia, Arsenic Encephalopathy, Intellectual Disability, Still Disease, PCOS
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LPIN1 Lipin 1 Glycerolipid metabolism, Glycerophospholipid metabolism, Metabolic pathways, mTOR signaling pathway, Synthesis of PC, Synthesis of PE, Depolymerisation of the Nuclear Lamina, Triglyceride biosynthesis Myoglobinuria, PCOS
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SIRT1 Sirtuin 1 FoxO signaling pathway, AMPK signaling pathway, Longevity regulating pathway, Longevity regulating pathway - multiple species, Cellular senescence, Glucagon signaling pathway, Amphetamine addiction, MicroRNAs in cancer, Regulation of HSF1-mediated heat shock response, SIRT1 negatively regulates rRNA expression, Regulation of FOXO transcriptional activity by acetylation Fatty Liver, Diabetic Retinopathy, HIV Infections, Osteosarcoma, Brain Infarction, Obesity, Pneumonia, Scleroderma, Heart Failure, Degenerative Diseases Central Nervous System, Brain Neoplasms, Colitis, Bipolar Disorder, Prostate cancer, Schizophrenia, Retinal Diseases, Kidney Failure, Shared Paranoid Disorder, Atherosclerosis, Neoplasms, Heart Diseases, Neuronal ceroid lipofuscinosis, Demyelinating Diseases, Metabolic Syndrome X, Kidney Insufficiency, HIV Coinfection, Mood Disorders, Diabetes Mellitus , Breast Cancer, Non-alcoholic Fatty Liver Disease, Myocardial Failure, Chronic Lung Injury, Autoimmune Diseases, PCOS
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MTCH2 Mitochondrial carrier 2 Obesity, PCOS
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APPL1 Adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 Longevity regulating pathway, Pathways in cancer, Colorectal cancer, Caspase activation via Dependence Receptors in the absence of ligand MODY, PCOS
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PDCD4 Programmed cell death 4 Proteoglycans in cancer, MicroRNAs in cancer, Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation Lung Cancer, PCOS
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DACT1 Dishevelled binding antagonist of beta catenin 1 Degradation of DVL CAKUT, Intellectual Disability, Spina Bifida, Townes-Brocks Syndrome, Radial Club Hand, PCOS
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OAZ3 Ornithine decarboxylase antizyme 3 Regulation of ornithine decarboxylase (ODC) PCOS, Obesity, Genital Neoplasms, Male, Male infertility, Breast Cancer, Infertility, Teratozoospermia, Gastrointestinal Diseases
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ARID4B AT-rich interaction domain 4B HDACs deacetylate histones Adenoid Cystic Carcinoma, PCOS
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POLE3 DNA polymerase epsilon 3, accessory subunit DNA replication, Base excision repair, Nucleotide excision repair, Recognition of DNA damage by PCNA-containing replication complex, PCNA-Dependent Long Patch Base Excision Repair, Termination of translesion DNA synthesis, HDR through Homologous Recombination (HRR), Gap-filling DNA repair synthesis and ligation in GG-NER, Dual Incision in GG-NER, Dual incision in TC-NER, Gap-filling DNA repair synthesis and ligation in TC-NER, DNA replication initiation, Activation of the pre-replicative complex PCOS, Colorectal Cancer, Obesity, Ovarian Cancer, Leukemia
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EBF2 EBF transcription factor 2 Dupuytren Contracture, Breast Cancer, Prostate Carcinoma, PCOS
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FTO FTO alpha-ketoglutarate dependent dioxygenase Reversal of alkylation damage by DNA dioxygenases Obesity, Metabolic Syndrome X, Diabetes Mellitus , Breast Cancer, Intellectual Disability, Allergic rhinitis, Heart Failure, Leukopenia, Chronic Obstructive Pulmonary Disease, Mental Depression, Atrial Fibrillation, Mood Disorders, Coronary heart disease, Stroke, Inflammatory Bowel Diseases, PCOS, Eating Disorders, Obstructive Sleep Apnea
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PLCZ1 Phospholipase C zeta 1 Inositol phosphate metabolism, Metabolic pathways, Calcium signaling pathway, Phosphatidylinositol signaling system, Oocyte meiosis, Thyroid hormone signaling pathway, Synthesis of IP3 and IP4 in the cytosol Spermatogenic Failure, PCOS
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NEIL2 Nei like DNA glycosylase 2 Base excision repair, Recognition and association of DNA glycosylase with site containing an affected pyrimidine, Cleavage of the damaged pyrimidine , APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway PCOS, Squamous Cell Carcinoma, Breast Cancer, Rectal Neoplasms, Liver Cancer, Colorectal Cancer, Lung Cancer, Congenital diaphragmatic hernia, Degenerative Diseases Central Nervous System, Glioma, Metabolic Syndrome X, Tyrosinemia
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SUMO1P1 SUMO1 pseudogene 1 PCOS, Schizophrenia, Bipolar Disorder
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MIRLET7I MicroRNA let-7i MicroRNAs in cancer Hepatitis, Liver Diseases, Cholestasis, PCOS, Preeclampsia

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