Genes?

Curated: Color vision deficiency, Lung cancer, Diffuse large b-cell lymphoma, Oligodendroglioma, Prostatic neoplasms, Schizophrenia

Unreviewed: ACTIVATED PI3K-DELTA SYNDROME, Adenocarcinoma, Adenocarcinoma Of Colon, Adenoma, Adrenal Gland Pheochromocytoma, Adrenoleukodystrophy, Agammaglobulinemia, X-Linked, Age-related macular degeneration, Agenesis Of Corpus Callosum, Allergic rhinitis, Alzheimer disease, Ampullary Carcinoma, Amyloidosis, Anal Cancer, Anaplastic Astrocytoma, Anaplastic Lymphoma, Anaplastic thyroid cancer, Anemia, Angioimmunoblastic T-cell lymphoma, Ankylosing Spondylitis, Anterior segment dysgenesis, Aortic Aneurysm, Aortic Valve Insufficiency, Aortic Valve Sclerosis, Aplasia Cutis Congenita, Arnold-Chiari malformation, Arrhythmogenic right ventricular cardiomyopathy, Arteriosclerosis, Arthritis, Asthma, Astrocytoma, Ataxia Telangiectasia, Atherosclerosis, Atrial Fibrillation, Attention Deficit Hyperactivity Disorder, Autism, Autism spectrum disorder, Autoimmune disease, Autoimmune Diseases, Autoimmune Thyroiditis, Autonomic Central Nervous System Diseases, Azoospermia, B-Cell Lymphoma, Bannayan-Riley-Ruvalcaba Syndrome, Barrett esophagus, Benign Prostatic Hyperplasia, Bile duct carcinoma, Biliary Tract Cancer, Bladder carcinoma, Bladder Neoplasm, Blepharophimosis, Bone Disease, Brain Neoplasms, Breast Adenocarcinoma, Breast Cancer, Breast Carcinoma, Breast Carcinoma, male, Breast neoplasm, Burkitt`s Lymphoma, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Cardiomyopathy, Cardiovascular Abnormalities, Cardiovascular Diseases, Cataract, Celiac disease, Central Nervous System Lymphoma, Central Nervous System Neoplasms, Central Visual Impairment, Cerebral Infarction, Cerebral Ischemia, Cerebral palsy, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Cholangiocarcinoma, Cholestasis, Cholesteatoma, Chondrosarcoma, Chordoma, Chorea, Choriocarcinoma, Choroidal melanoma, Chronic Obstructive Pulmonary Disease, Ciliopathies, Cirrhosis, Cognition disorder, Cognitive disorder, Colitis, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Cone-rod dystrophy, Congenital anomalies of kidney and urinary tract, Congenital Arteriovenous Malformation, Congenital Chromosomal Disease, Congenital Contractural Arachnodactyly, Congenital Epicanthus, Congenital heart defects, Congestive Heart Failure, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Cortical Dysplasia, Costello syndrome, Craniosynostosis, Crohn Disease, CTLA4 Deficiency, Cystic Fibrosis, Cystitis, Delirium, Dementia, Dermatitis, Dermatologic Disorders, Development Disorder, Developmental Delay, Diabetes, Diabetes Insipidus, Diabetes Mellitus, Diabetes mellitus, type 2, Diabetic cardiomyopathy, Diabetic Nephropathy, Diabetic neuropathy, Diabetic Retinopathy, Diffuse Intrinsic Pontine Glioma, Diffuse Lymphoma, Ductal carcinoma, Dysautonomia, Dysembryoplastic Neuroepithelial Tumor, DYSTROPHIC EPIDERMOLYSIS BULLOSA, Ectrodactyly, Embryonal Neoplasm, Embryonal Rhabdomyosarcoma, Enchondroma, Endometrial Cancer, Endometrial carcinoma, Endometrial neoplasm, Endometrioid cancer, Endometriosis, Ependymoma, Epilepsy, Epileptic Encephalopathy, Epiretinal Membrane, Episodic Kinesigenic Dyskinesia, Epithelioma, Erdheim-Chester Disease, Erectile Dysfunction, Erythroblastic Leukemia, Esophageal Cancer, Esophageal Carcinoma, Esophagus Neoplasm, Estrogen Resistance, Ewing sarcoma, Exfoliative Dermatitis, Fatty Liver, Fibrosarcoma, Fleck Corneal Dystrophy, Focal cortical dysplasia, Follicular Thyroid Carcinoma, Fragile X Syndrome, Fuchs Endothelial Dystrophy, Gallbladder cancer, Ganglioglioma, Gastric Cancer, Gastritis, Gastrointestinal Neoplasms, Gastrointestinal stromal tumor, Gestational Trophoblastic Neoplasms, Giant Cell Arteritis, Glaucoma, Glioblastoma, Glioma, Gliosarcoma, Glomerulonephritis, Glucocorticoid Receptor Deficiency, Graves Disease, Graves ophthalmopathy, Hairy Cell Leukemia, Hamartoma, Hashimoto Disease, Head and neck cancer, Head And Neck Carcinoma, Head And Neck Neoplasms, Heart Diseases, Heart Failure, Hemangioma, Hemangiosarcoma, Hematologic Neoplasms, Hematopoietic Neoplasms, Hemimegalencephaly, Hepatoblastoma, Hepatocellular carcinoma, Hereditary breast and ovarian cancer syndrome, Hereditary Cancer Syndrome, Hereditary Gingival Fibromatosis, Hereditary Hemochromatosis, Hereditary Hemorrhagic Telangiectasia, Hereditary Pancreatitis, Histiocytosis, Hodgkin Disease, Hodgkin Lymphoma, Huntington Disease, Hydatidiform mole, Hydrocephalus, Hyper-IgM Immunodeficiency Syndrome, Hyperandrogenism, Hypercholesterolemia, Hyperglycemia, Hyperhomocysteinemia, Hyperinsulinism, Hyperlipidemia, Hyperostosis, Hyperparathyroidism, Hypertension, Hypertrophic cardiomyopathy, Hypocholesterolemia, Hypoglycemia, Hypopharyngeal Carcinoma, Hypospadias, Hypothyroidism, Hypoxic-Ischemic Encephalopathy, Ichthyosis, IGF-I RESISTANCE, Immune System Diseases, immunodeficiency, Immunologic Deficiency Syndromes, Impaired Cognition, Inflammatory Bowel Disease, Interstitial Cystitis, Intervertebral Disc Degeneration, Intervertebral Disc Disorder, Intervertebral Disk Displacement, Intestinal Neoplasms, Intracranial Aneurysm, Intracranial Neoplasm, Intrahepatic Cholangiocarcinoma, Invasive Duct and Lobular Carcinoma, Iron Overload, Irritable Bowel Syndrome, Ischemic Stroke, Jaundice, Kaposi Sarcoma, Kashin-Beck Disease, Keratoconus, Ketosis, Kidney Cancer, Kidney Disease, Kidney Failure, Kidney Neoplasm, Kidney stone, Knee osteoarthritis, Kosaki Overgrowth Syndrome, Laryngeal Carcinoma, Laryngeal cleft, Larynx cancer, Lateral Meningocele Syndrome, Leiomyoma, Leiomyosarcoma, LEOPARD Syndrome, Leukemia, Leukocyte adhesion deficiency, Leukopenia, Limb-Mammary Syndrome, Lip and Oral Cavity Carcinoma, Lipodystrophy, Lipomatosis, Liposarcoma, Liver Cancer, Liver carcinoma, Liver Cirrhosis, Liver failure, Liver Fibrosis, Liver neoplasms, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung Neoplasms, Lupus Erythematosus, Lupus Nephritis, Lymphatic Metastasis, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphoma, Lymphoproliferative Disorder, Macrocephaly, Malformation of cortical development, Malignant Bone Neoplasm, Malignant gastrointestinal tract tumors, Malignant Histiocytoma, Malignant lymphoma, lymphocytic, intermediate differentiation, Malignant Mesothelioma, Malignant Neoplasm, Malignant neoplasm of mouth, Malignant Neoplasm Of Oropharynx, Malignant Neoplasm Of Tongue, Malignant Peripheral Nerve Sheath Tumor, Malnutrition, Mammary Neoplasms, Manic Disorder, Mantle Cell Lymphoma, Medulloblastoma, Megalencephaly Cutis Marmorata Telangiectatica Congenita, Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome, Melanoma, Memory Disorders, Meningioma, Mental Depression, Mental retardation, Merkel cell carcinoma, Mesothelioma, Metabolic Bone Disorder, Metabolic Diseases, Metabolic Syndrome, Metastatic Melanoma, Metastatic Prostate Carcinoma, Microcephaly, Migraine, Miscarriage, MOHR-TRANEBJAERG SYNDROME, Monocytic Leukemia, Mood Disorder, Motor neuron atrophy, Mountain sickness, Mouth neoplasm, Mucinous Adenocarcinoma, Mucoepidermoid Carcinoma, Mucosa-associated lymphoma, Multiple Endocrine Neoplasia, Multiple myeloma, Multiple polyposis syndrome, Multiple Sclerosis, Multiple Trichoepithelioma, Myelodysplastic Syndrome, Myelofibrosis, Myeloid Leukemia, Myelomonocytic Leukemia, Myeloproliferative disorder, Myocardial Infarction, Myocardial Ischemia, Myxoid Liposarcoma, Myxoma, Nasopharyngeal Cancer, Nasopharyngeal carcinoma, Necrotizing Enterocolitis, Neoplasm, Neoplasms, Nephroblastoma, Nephrolithiasis, Nephrosis, Nephrotic Syndrome, Nervous System Diseases, Nervous System Disorder, Neurilemmoma, Neuroblastoma, Neurocutaneous Syndromes, Neurodegenerative disorder, Neurodegenerative Disorders, Neurodevelopmental Disorders, Neuroectodermal Tumors, Neuroendocrine Tumors, Neurofibromatosis, Neuromuscular Diseases, Neuromyelitis Optica, Neuropathy, Neutropenia, Nijmegen Breakage Syndrome, Non-Alcoholic Fatty Liver Disease, Non-Hodgkin lymphoma, Nonmedullary thyroid carcinoma, Obesity, Oestrogen Receptor Positive Breast Cancer, Opitz GBBB Syndrome, X-Linked, Opsoclonus-myoclonus syndrome, Optic Nerve Glioma, Oropharyngeal Carcinoma, Osteoarthritis, Osteoglosphonic dysplasia, Osteopenia, Osteoporosis, Osteosarcoma, Otitis media, Ovarian cancer, Ovarian Carcinoma, Ovarian Epithelial carcinoma, Ovarian Failure, Ovarian neoplasm, Ovarian Serous Cystadenocarcinoma, Overgrowth Spectrum, Pachyonychia Congenita, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic Neoplasm, Pancreatitis, Papillary thyroid cancer, Papillary thyroid carcinoma, Papilloma, Parathyroid Gland Adenocarcinoma, Parkinson disease, Partial epilepsy, Patent ductus arteriosus, Penile cancer, Penile Hypospadias, Peptic Esophagitis, Periodontitis, Peripheral Neuropathy, Perisylvian Syndrome, Peritonitis, Phakomatosis pigmentovascularis, Pheochromocytoma, Phyllodes Tumor, Pituitary adenoma, Pituitary Diseases, Pituitary Neoplasms, Polycystic kidney disease, Polycystic Ovary Syndrome, Polycythemia Vera, Polymicrogyria, Polyposis Syndrome, Prader-Willi Syndrome, Premature Menopause, Prolactinoma, Proliferative Vitreoretinopathy, Promyelocytic Leukemia, Prostate cancer, Prostatic Hyperplasia, Prostatic neoplasm, Prostatic Neoplasms, Proteus Syndrome, Psoriasis, Psoriatic Arthritis, PTEN Hamartoma Tumor Syndrome, Pterygium, Ptosis, Pulmonary arterial hypertension, Pulmonary Fibrosis, Pulmonary hypoplasia, Rectal Carcinoma, Renal Carcinoma, Renal cell carcinoma, Renal fibrosis, Respiration Disorders, Respiratory Distress Syndrome, Respiratory system infectious disease, Retinal Diseases, Retinoblastoma, Retinopathy, Rhabdoid Tumor, Rhabdomyosarcoma, Rheumatoid arthritis, Russell-Silver Syndrome, Saethre-Chotzen Syndrome, Sarcoidosis, Sarcoma, Scleroderma, Seborrheic keratosis, Seminoma, Senile Plaques, Septicemia, Severe combined immunodeficiency disease, Sezary Syndrome, SHORT Syndrome, Sialic Acid Storage Disease, Skin cancer, Skin carcinoma, Skin Lesion, Sleep Apnea, Social Communication Disorder, Split hand foot deformity, Squamous cell carcinoma, Status Epilepticus, Steroid Sulfatase Deficiency Disease, Stomach Carcinoma, Stomach Neoplasms, Stomatitis, Strawberry Nevus Of Skin, Stroke, Sturge-Weber Syndrome, Subarachnoid hemorrhage, Sveinsson Chorioretinal Atrophy, Syndromic microphthalmia, Synovial sarcoma, Synovitis, Systemic lupus erythematosus, T-cell leukemia, T-Cell Lymphoma, T-Cell Lymphoma/Leukemia, Telangiectasia, Teratoid Rhabdoid Tumor, Testicular Germ Cell Tumor, Thrombotic Microangiopathies, Thymic Carcinoma, Thymoma, Thyroid cancer, Thyroid Carcinoma, Thyroid eye disease, Thyroid Gland Follicular Adenoma, Thyroid Neoplasm, Thyroiditis, Tongue carcinoma, Transient Ischemic Attack, Triple negative breast cancer, Triple Negative Breast Neoplasms, Tuberous Sclerosis, Tumor, Turcot syndrome, Ulcerative colitis, Urinary bladder cancer, Urinary bladder neoplasms, Urothelial Carcinoma, Urticaria, Uterine Fibroids, Uterine neoplasm, Uveal Melanoma, Uveitis, Van Der Woude Syndrome, Vascular Diseases, Venous Insufficiency, Venous malformation, Ventricular arrhythmia, Ventricular hypertrophy, Vitamin A Deficiency, Vitamin D Deficiency, Vitiligo, Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS, Von Hippel-Lindau Syndrome, Waldenstrom`s Macroglobulinemia, Xeroderma Pigmentosum

Curated: Activated pi3k-delta syndrome, Alzheimer disease, Asthma, Atrial fibrillation, Agammaglobulinemia, Combined immunodeficiency with facio-oculo-skeletal anomalies, Immunodeficiency, Irritable bowel syndrome, Diffuse large b-cell lymphoma, Moyamoya angiopathy, Prostatic neoplasms, Roifman syndrome, Schizophrenia, Testicular carcinoma, Testicular germ cell tumor, immunodeficiency 14b, autosomal recessive, immunodeficiency 14

Unreviewed: N/A

Curated: N/A

Unreviewed: Neoplasms, Renal Carcinoma, Testicular Germ Cell Tumor

Curated: N/A

Unreviewed: N/A

Curated: N/A

Unreviewed: N/A

Curated: Alzheimer disease, Autism, Cardiomegaly, Congestive heart failure, Cystic fibrosis, Diabetes mellitus type 2, Gastroesophageal reflux disease, Heart failure, Immunodeficiency, Keratoconus, Long qt syndrome, Diffuse large b-cell lymphoma, Medulloblastoma, immunodeficiency 97 with autoinflammation

Unreviewed: ACTIVATED PI3K-DELTA SYNDROME, Adenocarcinoma, Adenocarcinoma Of Colon, Adenoma, Adrenal Gland Pheochromocytoma, Adrenoleukodystrophy, Agammaglobulinemia, X-Linked, Age-related macular degeneration, Agenesis Of Corpus Callosum, Allergic rhinitis, Ampullary Carcinoma, Amyloidosis, Anal Cancer, Anaplastic Astrocytoma, Anaplastic Lymphoma, Anaplastic thyroid cancer, Anemia, Angioimmunoblastic T-cell lymphoma, Ankylosing Spondylitis, Anodontia, Anterior segment dysgenesis, Aortic Aneurysm, Aortic Valve Insufficiency, Aortic Valve Sclerosis, Aplasia Cutis Congenita, Arnold-Chiari malformation, Arrhythmogenic right ventricular cardiomyopathy, Arteriosclerosis, Arthritis, Asthma, Astrocytoma, Ataxia Telangiectasia, Atherosclerosis, Atrial Fibrillation, Attention Deficit Hyperactivity Disorder, Autism spectrum disorder, Autoimmune Diabetes, Autoimmune disease, Autoimmune Diseases, Autoimmune Thyroiditis, Autonomic Central Nervous System Diseases, Azoospermia, B-Cell Lymphoma, Bannayan-Riley-Ruvalcaba Syndrome, Benign Prostatic Hyperplasia, Bile duct carcinoma, Biliary Tract Cancer, Bladder carcinoma, Bladder Neoplasm, Bone Disease, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast Carcinoma, male, Breast neoplasm, Burkitt`s Lymphoma, Calcinosis, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Cardiomyopathy, Cardiovascular Abnormalities, Cardiovascular Diseases, Carotid artery stenosis, Cataract, Celiac disease, Central Nervous System Lymphoma, Central Nervous System Neoplasms, Central Visual Impairment, Cerebral Infarction, Cerebral Ischemia, Cerebral palsy, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Cholangiocarcinoma, Cholestasis, Cholesteatoma, Chondrosarcoma, Chordoma, Chorea, Choriocarcinoma, Choroidal melanoma, Chronic Obstructive Pulmonary Disease, Ciliopathies, Cirrhosis, Cognitive disorder, Colitis, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Cone-rod dystrophy, Congenital anomalies of kidney and urinary tract, Congenital Arteriovenous Malformation, Congenital Chromosomal Disease, Congenital Contractural Arachnodactyly, Congenital heart defects, Congestive Heart Failure, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Cortical Dysplasia, Costello syndrome, Craniosynostosis, Crohn Disease, CTLA4 Deficiency, Cystic Fibrosis, Cystitis, Delirium, Dementia, Dermatitis, Dermatologic Disorders, Development Disorder, Developmental Delay, Diabetes, Diabetes Insipidus, Diabetes Mellitus, Diabetes mellitus, type 2, Diabetic cardiomyopathy, Diabetic Nephropathy, Diabetic Retinopathy, Diffuse Intrinsic Pontine Glioma, Diffuse Lymphoma, Ductal carcinoma, Dysautonomia, Dysembryoplastic Neuroepithelial Tumor, DYSTROPHIC EPIDERMOLYSIS BULLOSA, Ear Diseases, Ectrodactyly, Embryonal Neoplasm, Embryonal Rhabdomyosarcoma, Enchondroma, Endometrial Cancer, Endometrial carcinoma, Endometrial neoplasm, Endometrioid cancer, Endometriosis, Ependymoma, Epilepsy, Epileptic Encephalopathy, Epiretinal Membrane, Episodic Kinesigenic Dyskinesia, Epithelioma, Erdheim-Chester Disease, Erectile Dysfunction, Erythroblastic Leukemia, Esophageal Cancer, Esophageal Carcinoma, Esophagus Neoplasm, Estrogen Resistance, Ewing sarcoma, Exfoliative Dermatitis, Fatty Liver, Fibrosarcoma, Fleck Corneal Dystrophy, Focal cortical dysplasia, Follicular Thyroid Carcinoma, Fragile X Syndrome, Fuchs Endothelial Dystrophy, Gallbladder cancer, Ganglioglioma, Gastric Cancer, Gastritis, Gastrointestinal Neoplasms, Gastrointestinal stromal tumor, Gata2 deficiency, Gestational Trophoblastic Neoplasms, Giant Cell Arteritis, Glaucoma, Glioblastoma, Glioma, Gliosarcoma, Glomerulonephritis, Glucocorticoid Receptor Deficiency, Graves Disease, Hairy Cell Leukemia, Hamartoma, Hashimoto Disease, Head and neck cancer, Head And Neck Carcinoma, Heart Diseases, Heart Failure, Hemangioma, Hemangiosarcoma, Hematologic disease, Hematologic Neoplasms, Hematopoietic Neoplasms, Hemimegalencephaly, Hepatitis c, Hepatoblastoma, Hereditary Cancer Syndrome, Hereditary Gingival Fibromatosis, Hereditary Hemochromatosis, Hereditary Hemorrhagic Telangiectasia, Hereditary Pancreatitis, Hirschsprung Disease, Histiocytosis, Hodgkin Disease, Hodgkin Lymphoma, Huntington Disease, Hydatidiform mole, Hydrocephalus, Hyper-IgM Immunodeficiency Syndrome, Hyperandrogenism, Hypercholesterolemia, Hyperglycemia, Hyperhomocysteinemia, Hyperinsulinism, Hyperlipidemia, Hyperostosis, Hyperparathyroidism, Hypertension, Hypertrophic cardiomyopathy, Hypocholesterolemia, Hypoglycemia, Hypopharyngeal Carcinoma, Hypospadias, Hypothyroidism, Hypoxia, Hypoxic-Ischemic Encephalopathy, Ichthyosis, Idiopathic pulmonary fibrosis, IGF-I RESISTANCE, Immune System Diseases, immunodeficiency, Immunologic Deficiency Syndromes, Impaired Cognition, Inflammatory Bowel Disease, Insulinoma, Interstitial Cystitis, Intervertebral Disc Degeneration, Intervertebral Disc Disorder, Intervertebral Disk Displacement, Intestinal Neoplasms, Intracranial Aneurysm, Intracranial Neoplasm, Intraductal noninfiltrating carcinoma, Intrahepatic Cholangiocarcinoma, Invasive Duct and Lobular Carcinoma, Iron Overload, Irritable Bowel Syndrome, Ischemic Stroke, Jaundice, Kaposi Sarcoma, Kashin-Beck Disease, Ketosis, Kidney Cancer, Kidney Disease, Kidney Failure, Kidney Neoplasm, Kidney stone, Knee osteoarthritis, Kosaki Overgrowth Syndrome, Laryngeal Carcinoma, Laryngeal cleft, Larynx cancer, Lateral Meningocele Syndrome, Leiomyoma, Leiomyosarcoma, LEOPARD Syndrome, Leukemia, Leukocyte adhesion deficiency, Leukopenia, Limb-Mammary Syndrome, Lip and Oral Cavity Carcinoma, Lipodystrophy, Lipomatosis, Liposarcoma, Liver Cancer, Liver carcinoma, Liver Cirrhosis, Liver failure, Liver Fibrosis, Liver neoplasms, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung Neoplasms, Lupus Erythematosus, Lupus Nephritis, Lymphatic Metastasis, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphoma, Lymphoproliferative Disorder, Macrocephaly, Malformation of cortical development, Malignant Bone Neoplasm, Malignant gastrointestinal tract tumors, Malignant Histiocytoma, Malignant lymphoma, lymphocytic, intermediate differentiation, Malignant Mesothelioma, Malignant Neoplasm, Malignant neoplasm of mouth, Malignant Neoplasm Of Oropharynx, Malignant Neoplasm Of Tongue, Malignant Peripheral Nerve Sheath Tumor, Malnutrition, Mammary Neoplasms, Manic Disorder, Mantle Cell Lymphoma, Medullomyoblastoma, Megalencephaly Cutis Marmorata Telangiectatica Congenita, Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome, Melanoma, Memory Disorders, Meningioma, Mental Depression, Mental retardation, Merkel cell carcinoma, Mesothelioma, Metabolic Bone Disorder, Metabolic Diseases, Metabolic Syndrome, Metastatic Melanoma, Metastatic Prostate Carcinoma, Migraine, Miscarriage, Mobius syndrome, MOHR-TRANEBJAERG SYNDROME, Monocytic Leukemia, Mood Disorder, Motor neuron atrophy, Mountain sickness, Mucinous Adenocarcinoma, Mucoepidermoid Carcinoma, Mucosa-associated lymphoma, Multiple Endocrine Neoplasia, Multiple myeloma, Multiple polyposis syndrome, Multiple Sclerosis, Multiple Trichoepithelioma, Myelodysplastic Syndrome, Myelofibrosis, Myeloid Leukemia, Myelomonocytic Leukemia, Myeloproliferative disorder, Myocardial Infarction, Myocardial Ischemia, Myopia, Myxoid Liposarcoma, Myxoma, Nasopharyngeal Cancer, Nasopharyngeal carcinoma, Necrotizing Enterocolitis, Neoplasm, Neoplasms, Nephroblastoma, Nephrolithiasis, Nephrosis, Nephrotic Syndrome, Nervous System Diseases, Nervous System Disorder, Neurilemmoma, Neuroblastoma, Neurocutaneous Syndromes, Neurodegenerative Disorders, Neurodevelopmental Disorders, Neuroectodermal Tumors, Neuroendocrine Tumors, Neurofibromatosis, Neuromuscular Diseases, Neuromyelitis Optica, Neuropathy, Neutropenia, Nijmegen Breakage Syndrome, Non-Alcoholic Fatty Liver Disease, Non-Hodgkin lymphoma, Nonmedullary thyroid carcinoma, Obesity, Oestrogen Receptor Positive Breast Cancer, Oligodendroglioma, Opitz GBBB Syndrome, X-Linked, Opsoclonus-myoclonus syndrome, Optic Nerve Glioma, Oropharyngeal Carcinoma, Osteoglosphonic dysplasia, Osteopenia, Osteoporosis, Osteosarcoma, Otitis media, Ovarian cancer, Ovarian Carcinoma, Ovarian diseases, Ovarian Epithelial carcinoma, Ovarian Failure, Ovarian neoplasm, Ovarian Serous Cystadenocarcinoma, Overgrowth Spectrum, Pachyonychia Congenita, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic Neoplasm, Pancreatitis, Papillary thyroid carcinoma, Papilloma, Parathyroid Gland Adenocarcinoma, Parkinson disease, Patent ductus arteriosus, Penile cancer, Penile Hypospadias, Peptic Esophagitis, Periodontitis, Peripheral Neuropathy, Perisylvian Syndrome, Phakomatosis pigmentovascularis, Pheochromocytoma, Phyllodes Tumor, Pituitary adenoma, Pituitary Diseases, Pituitary Neoplasms, Platelet disorder, Pleuritis, Polycystic kidney disease, Polycystic Ovary Syndrome, Polycythemia Vera, Polymicrogyria, Polyposis Syndrome, Prader-Willi Syndrome, Premature Menopause, Prolactinoma, Proliferative Vitreoretinopathy, Promyelocytic Leukemia, Prostate cancer, Prostatic Hyperplasia, Prostatic neoplasm, Prostatic Neoplasms, Proteus Syndrome, Psoriasis, Psoriatic Arthritis, PTEN Hamartoma Tumor Syndrome, Pterygium, Pulmonary arterial hypertension, Pulmonary Fibrosis, Pulmonary hypoplasia, Rectal Carcinoma, Renal Carcinoma, Renal cell carcinoma, Renal fibrosis, Respiration Disorders, Respiratory Distress Syndrome, Retinal Diseases, Retinoblastoma, Retinopathy, Rhabdoid Tumor, Rhabdomyosarcoma, Rheumatoid arthritis, Russell-Silver Syndrome, Saethre-Chotzen Syndrome, Sarcoidosis, Sarcoma, Sarcopenia, Schizophrenia, Scleroderma, Seborrheic keratosis, Seminoma, Senile Plaques, Septicemia, Severe combined immunodeficiency disease, Sezary Syndrome, SHORT Syndrome, Sialic Acid Storage Disease, Skin cancer, Skin carcinoma, Skin Lesion, Sleep Apnea, Social Communication Disorder, Split hand foot deformity, Squamous cell carcinoma, Status Epilepticus, Steroid Sulfatase Deficiency Disease, Stomach Carcinoma, Stomach Neoplasms, Stomatitis, Strawberry Nevus Of Skin, Stroke, Sturge-Weber Syndrome, Subarachnoid hemorrhage, Sveinsson Chorioretinal Atrophy, Syndromic microphthalmia, Synovial sarcoma, Synovitis, Systemic lupus erythematosus, T-cell leukemia, T-Cell Lymphoma, T-Cell Lymphoma/Leukemia, Telangiectasia, Teratoid Rhabdoid Tumor, Testicular Germ Cell Tumor, Thrombocytosis, Thymic Carcinoma, Thymoma, Thyroid cancer, Thyroid Carcinoma, Thyroid eye disease, Thyroid Gland Follicular Adenoma, Thyroid Neoplasm, Thyroiditis, Tongue carcinoma, Transient Ischemic Attack, Triple negative breast cancer, Triple Negative Breast Neoplasms, Tuberous Sclerosis, Tumor, Ulcerative colitis, Urinary bladder cancer, Urothelial Carcinoma, Urticaria, Uterine Fibroids, Uveal Melanoma, Uveitis, Van Der Woude Syndrome, Vascular Diseases, Venous Insufficiency, Venous malformation, Ventricular arrhythmia, Ventricular hypertrophy, Vitamin A Deficiency, Vitamin D Deficiency, Vitiligo, Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS, Von Hippel-Lindau Syndrome, Waldenstrom`s Macroglobulinemia, Xeroderma Pigmentosum

Curated: Heart failure

Unreviewed: Brain edema, Brain ischemia, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Hashimoto disease, Heart Failure, Hepatocellular carcinoma, Liver failure, Lung carcinoma, Lung Diseases, Lymphoma, Malignant Neoplasm, Mantle Cell Lymphoma, Microvascular angina, Myeloid leukemia, Narcolepsy, Neoplasms, Osteosarcoma, Psoriasis

Curated: N/A

Unreviewed: N/A

Curated: Activated pi3k-delta syndrome, Agammaglobulinemia, Alzheimer disease, Basal cell carcinoma, Breast cancer, Burkitt lymphoma, Carcinoma, Cardiovascular disease, Central nervous system cancer, Color vision deficiency, Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, Corneal astigmatism, Crohn disease, Desbuquois syndrome, Diabetes mellitus type 2, Diabetic retinopathy, Diffuse idiopathic skeletal hyperostosis, Essential tremor, Glioblastoma, Glioma, Gout, Hypertension, Immunodeficiency, Inflammatory bowel disease, Keratinocyte carcinoma, Osteoarthritis, Prostatic neoplasms, Schizophrenia, Short syndrome, Vitiligo, PIK3R1-related immunodeficiency and SHORT syndrome

Unreviewed: ACTIVATED PI3K-DELTA SYNDROME, Adenocarcinoma, African Burkitt`s Lymphoma, Agammaglobulinemia, X-Linked, Alagille syndrome, Alopecia, Ameloblastoma, Anaplastic Carcinoma, Argininosuccinic aciduria, Arthritis, Asthma, Astrocytoma, Ataxia telangiectasia, Autoimmune Diseases, Axenfeld anomaly, B-Cell Lymphoma, Bladder carcinoma, Bladder Neoplasm, Blood coagulation disorder, Brachydactyly, Brain disease, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Brittle cornea syndrome, Bronchiectasis, Burkitt`s Lymphoma, Carcinogenesis, Carcinoid tumor, Carcinoma in situ, Cardiomyopathy, Carnitine palmitoyltransferase deficiency, Cartilage disease, Cataract, Cholangiocarcinoma, Chronic obstructive pulmonary disease, Cleft palate, Clinodactyly, Cognition disorder, Colitis, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Common variable immunodeficiency, Congenital bilateral absence of vas deferens, Congenital disorder of glycosylation, Congenital Epicanthus, Congenital Keratoglobus, Conjunctivitis, Coronary artery disease, Dermatitis, Developmental Delay, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 1, Diabetes mellitus, type 2, Diabetic Nephropathy, Diabetic neuropathy, Diffuse mesangial sclerosis, Dilated cardiomyopathy, Duane retraction syndrome, Ductal carcinoma, Dwarfism, Dyslipidemias, Ectrodactyly, Eczema, Endocrine system disease, Endometrial Cancer, Endometrial carcinoma, Endometrial neoplasm, Endometrial Neoplasms, Endometrioid carcinoma, Endometriosis, Epidermolysis bullosa, Epithelial ovarian carcinoma, Erythrocytosis, Esophageal neoplasm, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Essential thrombocythemia, Fatty Liver, Female infertility, Frontal bossing, Gallbladder neoplasm, Gastrointestinal disease, Gastrointestinal neoplasm, Gastrointestinal stromal tumor, Gata2 deficiency, Gestational diabetes, Glaucoma, Glucocorticoid receptor deficiency/resistance, Growth disorder, Hairy cell leukemia, Head and neck cancer, Head And Neck Carcinoma, Head and neck neoplasm, Hearing Loss, Heart failure, Hemangiosarcoma, Hematologic disease, Hematologic neoplasm, Hemimegalencephaly, Hepatoblastoma, Hepatocellular carcinoma, Hereditary angioedema, Hereditary breast and ovarian cancer syndrome, Hereditary Gingival Fibromatosis, Hereditary hemorrhagic telangiectasia, High palate, Hodgkin Disease, Hodgkin Lymphoma, Hyper-IgM Immunodeficiency Syndrome, Hyperglycemia, Hyperimmunoglobulin M Syndrome, Hyperlipidemia, Hypersplenism, Hypertrophic cardiomyopathy, Hypodontia, Hypogammaglobulinemia, Hypoplasia Of Iris, Hypotrichosis, Hypoxia, IGF-I RESISTANCE, Immune system disease, immunodeficiency, Immunologic Deficiency Syndromes, Infertility, Insulin-resistant diabetes mellitus, Intraductal noninfiltrating carcinoma, Ischemic Stroke, Kidney Cancer, Kidney neoplasm, Laryngeal carcinoma, Laryngeal neoplasm, Larynx cancer, Leiomyoma, Leukemia, Lipid Metabolism Disorders, Lipoatrophy, Lipodystrophy, Liver Cancer, Liver carcinoma, Liver cirrhosis, Liver disease, Lobular carcinoma, Lung Cancer, Lung carcinoma, Lung disease, Lung neoplasms, Lymphatic metastasis, Lymphedema, Lymphocytic Leukemia, Lymphoma, Lymphopenia, Lymphoproliferative Disorder, Lymphoproliferative syndrome, Macrotia, Major depressive disorder, Malabsorption Syndrome, Malignant Neoplasm, Malignant Uterine Corpus Neoplasm, Mammary Neoplasms, Medulloblastoma, Melanoma, Meningioma, Mental Depression, Merkel cell carcinoma, Mesothelioma, Metabolic Syndrome, Microcephaly, Microdontia, Micrognathism, Mood Disorder, Mouth neoplasm, Multiple myeloma, Multiple sclerosis, Myelodysplastic syndrome, Myeloid leukemia, Myelomonocytic Leukemia, Myeloproliferative disorder, Myopia, Nasal polyp, Nasopharyngeal Carcinoma, Neoplasms, Nephroblastoma, Neuroblastoma, Neurofibromatosis, Neurofibrosarcoma, Neutropenia, Obesity, Ocular hypotension, Oculocerebrorenal syndrome, Osteoglophonic dwarfism, Osteomyelitis, Osteopenia, Osteosarcoma, Otitis media, Ovarian cancer, Ovarian Carcinoma, Ovarian cysts, Ovarian hyperstimulation syndrome, Ovarian neoplasm, Pancreatic ductal carcinoma, Pancreatic neoplasm, Papillary thyroid cancer, Papilloma, Parkinson disease, Partial Lipodystrophy, Platelet disorder, Polycystic Ovary Syndrome, Polycythemia, Portal Hypertension, Posterior embryotoxon, Primary cutaneous anaplastic large cell lymphoma, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Psoriasis, Psychotic disorders, Renal Carcinoma, Renal cell carcinoma, Respiratory system infectious disease, Retinoblastoma, Rheumatoid arthritis, Rhinitis, Rieger syndrome, Salivary gland neoplasms, Sarcoma, Severe combined immunodeficiency, Severe combined immunodeficiency disease, SHORT Syndrome, Sickle cell anemia, Sinusitis, Sjogren syndrome, Small cell lung carcinoma, Spastic paraplegia, Speech Disorders, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Stroke, Sweet syndrome, Syndromic microphthalmia, Systemic lupus erythematosus, Thyroid cancer, Thyroid disease, Tongue cancer, Tooth abnormalities, Triple negative breast cancer, Triple Negative Breast Neoplasms, Tropical spastic paraparesis, Ulcerative colitis, Urinary bladder cancer, Urinary bladder neoplasms, Urothelial Carcinoma, Usher syndrome, Uterine neoplasm, Uveal melanoma, Vascular disease, Vascular malformation, Vitreoretinopathy, Young syndrome

Curated: Attention deficit hyperactivity disorder, Autism, Intellectual developmental disorder, Prostatic neoplasms, overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

Unreviewed: Adenocarcinoma, Alzheimer disease, Aplastic anemia, Atrial Septal Defect, Band Heterotopia, Brain disease, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Carnitine palmitoyltransferase deficiency, Chronic obstructive pulmonary disease, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Corpus callosum agenesis, Cortical development malformation, Developmental Delay, Diabetes mellitus, Diabetes mellitus, type 2, Diabetic Nephropathy, Endometrial Adenocarcinoma, Endometrial Cancer, Endometrial carcinoma, Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation, Endometrial neoplasm, Epilepsy, Erythrocytosis, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Focal cortical dysplasia, Frontal bossing, Gastric Cancer, Gestational diabetes, Glioblastoma, Glioma, Head and neck cancer, Head And Neck Carcinoma, Hepatitis c, Hepatocellular carcinoma, Hodgkin Disease, Hydrocephalus, Hyperglycemia, Hypoglycemia, Hypoplasia Of Corpus Callosum, Hypoxia, Ichthyosis, Idiopathic pulmonary fibrosis, Kaposi Sarcoma, Kidney Cancer, Leukemia, Lewy Body Disease, Liver carcinoma, Lung Cancer, Lung carcinoma, Lung neoplasms, Lymphocytic Leukemia, Lymphoproliferative Disorder, Macrocephaly, Malignant Neoplasm, Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome, Megalencephaly Cutis Marmorata Telangiectatica Congenita, Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome, Melanoma, Mesothelioma, Metabolic Syndrome, Microstomia, Mood Disorder, Multiple Congenital Anomalies, Multiple myeloma, Multiple sclerosis, Myelomonocytic Leukemia, Nasopharyngeal Carcinoma, Neoplasms, Neuroblastoma, Obesity, Osteopenia, Ovarian neoplasm, Pachygyria, Perisylvian Syndrome, Polycystic Ovary Syndrome, Polycythemia, Polydactyly, Polymicrogyria, Postaxial hand polydactyly, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Pseudohyperkalemia Cardiff, Ptosis, Renal Carcinoma, Rheumatoid arthritis, Sarcoma, Steroid Sulfatase Deficiency Disease, Syndactyly, Vascular ring, Ventricular septal defect