Genes?

Curated: N/A

Unreviewed: N/A

Curated: Alzheimer disease, Aortic stenosis, Aortic valve disease, Asthma, Biliary tract cancer, Breast cancer, Breast neoplasms, Cancer, Cardiovascular disease, Cervical cancer, Obstructive pulmonary disease, Colonic neoplasms, Colorectal cancer, Coronary artery disease, Desbuquois syndrome, Duodenal ulcer, Dyskeratosis congenita, Endometrial cancer, Esophageal cancer, Estrogen-receptor negative breast cancer, Gastric cancer, Gastric ulcer, Gastroesophageal reflux disease, Genetic predisposition to disease, Glaucoma, Gout, Heart failure, Heart valve disease, Hepatocellular carcinoma, Hyperpituitarism, Hypertension, Irritable bowel syndrome, Myeloid leukemia, Lung cancer, Major depressive disorder, Ovarian epithelial cancer, Multiple myeloma, Myeloproliferative disorder, Nasopharyngeal neoplasms, Non-hodgkins lymphoma, Open angle glaucoma, Osteoporosis, Osteosarcoma, Ovarian cancer, Premature ovarian failure, Ovarian neoplasms, Ovarian serous carcinoma, Pancreatic cancer, Pancreatic neoplasms, Pancytopenia, Peptic ulcer disease, Preeclampsia, Prostate cancer, Splenomegaly, Squamous cell carcinoma, Thrombocytopenia, MECOM-associated syndrome

Unreviewed: 5q-syndrome, Acute Myeloid Leukemia, Amegakaryocytic thrombocytopenia, Anemia, Ankylosing Spondylitis, Benign Neoplasm, Blast crisis, Blast phase chronic myelogenous leukemia, Breast Cancer, Breast Carcinoma, Breast neoplasm, Camptodactyly of fingers, Carcinogenesis, Carcinoma, Cardiovascular Diseases, Cholangiocarcinoma, Chronic Obstructive Pulmonary Disease, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Congenital Amegakaryocytic Thrombocytopenia, Congenital aural atresia, Congenital bone marrow failure syndrome, Congenital Chromosomal Disease, Congenital thrombocytopenia, Coronary Heart Disease, Cyclic neutropenia, Diabetes insipidus, Endometrial carcinoma, Endometrial neoplasm, Ependymoma, Epithelial ovarian carcinoma, Esophageal squamous cell carcinoma, Fanconi Anemia, GATA2 Deficiency, Glioblastoma, Glioma, Hearing Loss, Hematologic disease, Hematologic neoplasm, Hematologic Neoplasms, Hematopoietic Neoplasms, Hemolytic anemia, Hereditary breast and ovarian cancer syndrome, Inflammatory bowel disease, Inherited Bone Marrow Failure Syndrome, Intracranial hemorrhage, Intrahepatic Cholangiocarcinoma, Leukemia, Liver carcinoma, Lung carcinoma, Lung disease, Lymphatic metastasis, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphoid leukemia, Lymphoma, Malignant Neoplasm, Mammary Neoplasms, Marfan Syndrome, Megakaryocytic Leukemia, Miller Dieker Syndrome, Monocytic Leukemia, Myeloblastic Leukemia, Myelodysplasia, Myelodysplastic syndrome, Myelodysplastic-Myeloproliferative Diseases, Myeloid Leukemia, Myeloid Leukemia With Inv(3)(Q21q26.2) Or T(3;3)(Q21;Q26.2), Myeloid Leukemia, 11q23 Abnormalities, Myelomonocytic Leukemia, Nasopharyngeal Cancer, Nasopharyngeal Carcinoma, Nasopharyngeal Neoplasms, Neoplasms, Neural tube defect, Neutropenia, Osteopenia, Ovarian Carcinoma, Ovarian Epithelial carcinoma, Ovarian neoplasm, Parkinson disease, Polycythemia Vera, Promyelocytic Leukemia, Prostate Cancer, Hereditary, Psoriasis, Radioulnar Synostosis, Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia, Refractory anemia, Retinoblastoma, Rheumatoid arthritis, Syndactyly of fingers, Testicular Hydrocele, Thrombocytosis, Thymoma, Triple negative breast cancer, Triple Negative Breast Neoplasms, Vascular Diseases, Waldenstrom macroglobulinemia

Curated: N/A

Unreviewed: Coronary Heart Disease, Leukemia

Curated: Angelman syndrome, Anxiety disorder, Attention deficit hyperactivity disorder, Rett syndrome, Autism, Autism, x-linked, Bruxism, Bulbar palsy, Hepatocellular carcinoma, Central apnea, Chromosome xq28 duplication syndrome, Congenital neurologic anomalies, Craniofacial abnormalities, Cyclin-dependent kinase-like 5 deficiency, Developmental disability, Developmental regression, Digestive system disease, Partial epilepsy, Epilepsy, Developmental and epileptic encephalopathy, Global developmental delay, Gross motor development delay, Hearing loss, Hyperalgesia, Intellectual developmental disorder, x-linked, Intellectual developmental disorder, Learning disorders, Systemic lupus erythematosus, Micrognathism, Neurodevelopmental disorder, X-linked intellectual disability, Psychiatric disorders, Pulmonary fibrosis, Rheumatoid arthritis, Schizophrenia, Seizures, Neonatal encephalopathy, Sick sinus syndrome

Unreviewed: Acquired Kyphoscoliosis, Adenocarcinoma, Adrenoleukodystrophy, alpha-Thalassemia Mental Retardation Syndrome, X-Linked, Alveolitis, Alzheimer disease, Amyotrophic Lateral Sclerosis, Anemia, Angelman Syndrome, Anorexia, Anxiety Disorder, Aortic valve disease, Aphasia, Apraxia, Arnold-Chiari malformation, Arteriosclerosis, Arthritis, Arthrogryposis multiplex congenita, Asperger Syndrome, Astigmatism, Ataxia, Atherosclerosis, Atrial Septal Defect, Atrophy, Attention Deficit Hyperactivity Disorder, Autism spectrum disorder, Autoimmune Diseases, Autonomic Central Nervous System Diseases, B-Cell Lymphoma, Balkan Nephropathy, Bartter syndrome, Behavioral abnormality, Bilateral Fetal Pyelectasis, Bipolar Disorder, Bladder neck obstruction, Blast phase chronic myelogenous leukemia, Blepharophimosis, Bone disease, Brachycephaly, Brain disease, Brain injuries, Breast Cancer, Breast Carcinoma, Breast neoplasm, Camptodactyly of fingers, Carcinoma, Cardiomyopathy, Cardiovascular abnormalities, Carpal tunnel syndrome, Cerebellar Ataxia, Cerebellar atrophy, Cerebral Atrophy, Cerebral Cortex Myoclonus, Cerebral cortical atrophy, Cerebral palsy, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Cholelithiasis, Choreoathetosis, Clonic Seizures, Cognition disorder, Cognitive disorder, Colonic neoplasm, Colorectal adenoma, Colorectal Cancer, Colorectal neoplasm, Congenital abnormalities, Congenital blindness, Congenital Chromosomal Disease, Congenital Epicanthus, Congenital kyphoscoliosis, Congenital Malformation Syndrome, Congenital Pectus Excavatum, Congestive Heart Failure, Coronary artery disease, Cortical development malformation, Cryptorchidism, Cutaneous mastocytosis, Dementia, Demyelinating neuropathy, Dermatomyositis, Development Disorder, Developmental Delay, Diabetes, Diabetes Mellitus, Diabetic cardiomyopathy, Diabetic foot, Diastrophic dysplasia, Down Syndrome, Drachtman Weinblatt Sitarz syndrome, Duchenne muscular dystrophy, Ductal carcinoma of breast, Dwarfism, Dysautonomia, Dysmorphic Features, Dysmorphism, Dysphagia, Dysphasia, Dyssomnia, Dystonia, Encephalitis, Encephalopathy, Encephalopathy With Microcephaly, Endometrial Cancer, Endometrial carcinoma, Endometrial neoplasm, Endometriosis, Epileptic encephalopathy, Esotropia, Facial paralysis, Fanconi Anemia, Febrile seizures, Filippi Syndrome, Fragile X Syndrome, Gait Apraxia, Gastroesophageal Reflux Disease, Gestational diabetes, Giant Cell Arteritis, Glioma, Graves Disease, Growth disorder, Gynecomastia, Hashimoto disease, Head and neck neoplasm, Heart Failure, Hemiplegia/hemiparesis, Hereditary elliptocytosis, Hereditary spastic paraplegia, Hernia Of Abdominal Wall, Herpetic keratitis, High palate, Hirschsprung Disease, Horizontal pendular nystagmus, Huntington Disease, Hydronephrosis, Hyperkinesia, Hyperparathyroidism, Hypoplasia Of Corpus Callosum, Hypospadias, Hypotonia, Hypotonic seizures, Idiopathic pulmonary fibrosis, Immunologic Deficiency Syndromes, Impaired Cognition, Infantile Spasms, Intellectual Disability-Psychosis-Macroorchidism Syndrome, X-Linked, Interstitial Nephritis, Jacksonian Seizure, Kidney Disease, Kidney Failure, Lafora Disease, Language development disorders, Large cell carcinoma, Laryngomalacia, Learning Disorders, Leukemia, Lipoid Congenital Adrenal Hyperplasia, Lissencephaly, Liver carcinoma, Liver Fibrosis, Long qt syndrome, Lujan-Fryns Syndrome, Lung Cancer, Lung carcinoma, Lung Neoplasms, Lupus Erythematosus, Lupus Nephritis, Lupus Vulgaris, Lymphatic metastasis, Lymphoma, Macrocephaly, Macrostomia, Macrotia, Major Affective Disorder, Major depressive disorder, Malignant Neoplasm, Malignant Neoplasm Of Testis, Malnutrition, Mammary Neoplasms, Maple Syrup Urine Disease, Meckel Diverticulum, Mental Depression, Mental Disorders, Mental retardation, Mental retardation with psychosis, pyramidal signs, and macroorchidism, Mental Retardation, X-Linked, Metabolic syndrome, Microcephaly, Micropenis, Microstomia, Miller Dieker Syndrome, Mitochondrial disease, Movement Disorders, Mucinous Adenocarcinoma, Multiple Sclerosis, Myelodysplastic Syndrome, Myeloid Leukemia, Myocardial infarction, Myoclonic Epilepsy, Myopia, Myotonic dystrophy, Neoplasms, Nephrolithiasis, Nervous system disease, Nervous System Disorder, Neuroblastoma, Neurodegenerative disorder, Neurodegenerative Disorders, Neurodevelopmental Disorders, Neuronal Ceroid Lipofuscinosis, Neurosensory Hearing impairment, Non-Syndromic Intellectual Disability, X-Linked, Nonorganic Psychosis, Obesity, Obsessive-Compulsive Disorder, Oropharyngeal neoplasm, Osteopenia, Osteoporosis, Osteosarcoma, Ovarian diseases, Ovarian neoplasm, Oxidative Phosphorylation Deficiency, Pancreatic cancer, Pancreatic carcinoma, Pancreatic neoplasm, Panic Disorder, Papillary thyroid cancer, Parkinson Disease, Partington syndrome, Penis Agenesis, Pitt-Hopkins Syndrome, Poikiloderma, Poikiloderma With Neutropenia, Polycystic Ovary Syndrome, Polymicrogyria, Prader-Willi Syndrome, Premature aging, Proliferative Vitreoretinopathy, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Psychomotor Disorders, Psychosis, Psychotic disorders, Ptosis, Pulmonary Fibrosis, Quadriplegia, Reifenstein Syndrome, Renal cell carcinoma, Repetitive compulsive behavior, Respiratory Failure, Respiratory system infectious disease, Rett Syndrome, Rett Syndrome, Zappella Variant, Rothmund-Thomson Syndrome, Rubinstein-Taybi Syndrome, Salaam Seizures, Scleroderma, Scoliosis, Secondary parkinson disease, Seizure, Senile Dementia, Sick Sinus Syndrome, Sjogren syndrome, Sleep Apnea, Sleep Disorders, Social Communication Disorder, Spastic Quadriplegia, Spastic tetraparesis, Speech Disorders, Spinal Muscular Atrophy, Squamous cell carcinoma, Stenosis Of External Auditory Canal, Stereotyped Behavior, Stereotypy, Stomach Carcinoma, Stomach Neoplasms, Strabismus, Stress Disorder, Stroke, Syndactyly Of The Toes, Syndromic Mental Retardation, X-linked, Systemic sclerosis, Tauopathies, Testicular germ cell tumor, Thyroid Diseases, Thyroiditis, Trichohepatoenteric Syndrome, Trigonocephaly, Trisomy Xq28, Urinary bladder diseases, Urinary bladder neoplasms, Uterine Fibroids, Uterine neoplasm, Ventricular tachycardia, Vertical nystagmus, Vitreoretinopathy, Werner Syndrome, West Syndrome

Curated: Optic atrophy, Childhood-onset dystonia, Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities, Leigh syndrome, Mitochondrial disease, Schizophrenia

Unreviewed: Basal ganglia disease, Cerebral palsy, Colorectal Cancer, Craniofacial dystonia, Developmental Delay, Dysarthria, Dyskinetic Syndrome, Dysphagia, Dystonia, Dystonia With Optic Atrophy And Basal Ganglia Abnormalities, Hermaphroditism, Leber hereditary optic neuropathy, Lymphoma, MEPAN Syndrome, Nystagmus, Optic Atrophy, Visual disorder

Curated: Asthma, Hepatocellular carcinoma, Endometriosis, Systemic lupus erythematosus, Diabetes mellitus type 2

Unreviewed: N/A

Curated: Colorectal cancer

Unreviewed: Glioblastoma, Hepatocellular carcinoma

Curated: Neurodevelopmental disorder

Unreviewed: N/A

Curated: Imperforate anus, Blepharophimosis syndrome, Blepharophimosis-intellectual disability syndrome, Breast neoplasms, Dilated cardiomyopathy, Cholestasis-pigmentary retinopathy-cleft palate syndrome, Major depressive disorder, Ehlers-danlos syndrome, Thoracic aortic aneurysm and aortic dissection, Global developmental delay, Intellectual developmental disorder, x-linked, Intellectual developmental disorder, Non-organic psychosis, Prostatic neoplasms, Psychotic disorders, Schizophrenia, Simpson-golabi-behmel syndrome, Depression, X-linked intellectual disability, MED12-related intellectual disability syndrome

Unreviewed: Abortive cerebellar ataxia, Adenocarcinoma, Adenoma, Adrenocortical carcinoma, Agenesis Of Corpus Callosum, alpha-Thalassemia Mental Retardation Syndrome, X-Linked, Alzheimer disease, Amyotrophic Lateral Sclerosis, Anemia, Angiofibroma, Anus Neoplasms, Anxiety disorder, Aortic Coarctation, Arachnodactyly, Arthritis, Ataxia, Ataxia telangiectasia, Atrial Septal Defect, Atrioventricular septal defect, Atrophy, Atrophy Of Corpus Callosum, Attention Deficit Hyperactivity Disorder, Auditory Neuropathy, Auditory perceptual disorder, Autism, Barth syndrome, Bipolar disorder, Blepharophimosis, Blepharophimosis-Mental Retardation Syndrome, Blindness, Brachycephaly, Brachydactyly, Brainstem Atrophy, Breast Cancer, Breast Carcinoma, Breast disease, Breast fibrocystic disease, Breast neoplasm, CAPOS Syndrome, Carcinogenesis, Carcinoma, Cardiomyopathic Mitochondrial DNA Depletion Syndrome, Cardiomyopathy, Cardiovascular Diseases, Cataract, Cerebellar atrophy, Choanal Atresia, Chronic obstructive pulmonary disease, Cleft lip, Clinodactyly, Cognition disorder, Colitis, Colon Carcinoma, Colonic Neoplasms, Color Blindness, Colorectal Cancer, Colorectal neoplasm, Congenital abnormalities, Congenital Camptodactyly, Congenital Cataract, Congenital Chromosomal Disease, Congenital Epicanthus, Congenital Exomphalos, Congenital heart defect, Congenital heart defects, Congenital Malformation Syndrome, Congenital malrotation of intestine, Congenital Pectus Excavatum, Congestive Heart Failure, Conotruncal cardiac defect, Contracture Of Hamstring, Corneal dystrophy, Coronary Arteriosclerosis, Coronary artery disease, Coronary Artery Vasospasm, Coronary Heart Disease, Corpus callosum agenesis, Costeff optic atrophy syndrome, Craniocerebral trauma, Craniosynostosis, Cryptorchidism, Cystosarcoma Phyllodes, Cytochrome c oxidase deficiency, Cytochrome-C Oxidase Deficiency, Deafness, Dementia, Developmental Delay, Developmental disability, Diabetes Mellitus, Diabetic cardiomyopathy, Disorder Of Eye, Dowling-Degos Disease, Duane Retraction Syndrome, Dwarfism, Dyschromatopsia, Dysmorphic Features, Dysmorphism, Dysphagia, Dystonia, Endometrial Stromal Sarcoma, Epilepsy, Epileptic encephalopathy, Esophageal squamous cell carcinoma, External Ophthalmoplegia, Eye disease, Eye Diseases, Facial dysmorphism, Facial dysmorphism syndrome, Facial paralysis, FG Syndrome, Fibroadenoma, Fibromatosis, Fragile X Syndrome, Friedreich Ataxia, Frontal bossing, Gastric Cancer, Gastroesophageal Reflux Disease, Gestational diabetes, Glaucoma, Glioblastoma, Glioma, Growth disorder, Hallucinations, Hearing Loss, Heart Failure, Hepatic Encephalopathy, Hepatocellular carcinoma, Hepatolenticular Degeneration, Hereditary breast and ovarian cancer syndrome, Hereditary Leber Optic Atrophy, Hereditary Leiomyomatosis and Renal Cancer, Hereditary optic atrophy, Hereditary spastic paraplegia, High palate, Hirschsprung Disease, Horizontal nystagmus, Huntington Disease, Hydrocephalus, Hyperglycemia, Hyperkinesia, Hypertension, Hypertrophic cardiomyopathy, Hypogonadism, Hypoplasia of the maxilla, Hypoplasia Of The Optic Nerve, Hypospadias, Hypothyroidism, Hypotonia, Hypoxia, Impaired Cognition, Insulinoma, Intervertebral Disc Degeneration, Intracranial Neoplasm, Kallmann syndrome, Kidney Failure, Knee osteoarthritis, Laron Syndrome, Lateral Meningocele Syndrome, Leber hereditary optic neuropathy, Leiomyoma, Leiomyosarcoma, Leiomyosarcoma Of Uterus, Leukemia, Limb-Mammary Syndrome, Liver carcinoma, Liver Fibrosis, Low Tension Glaucoma, Lujan-Fryns Syndrome, Lung Cancer, Lung carcinoma, Lung neoplasms, Lymphoblastic Leukemia, Lymphocytic Leukemia, Macrocephaly, Macrostomia, Malignant Neoplasm, Malrotation of colon, Mammary Neoplasms, Marfan Syndrome, Meckel Diverticulum, Melanoma, Mental Depression, Mental Disorders, Mental retardation, Mental Retardation, X-Linked, MERRF Syndrome, Micrognathism, Microstomia, Microtia, Migraine, Mitochondrial Cardiomyopathy, Mitochondrial disease, Mitochondrial Diseases, Mitochondrial encephalomyopathy, Mitochondrial myopathy, Mitral Valve Prolapse, Mood swings, Morning glory anomaly, Motor delay, Movement Disorders, Multiple Congenital Anomalies, Multiple sclerosis, Multiple system atrophy, Myeloid leukemia, Myocardial Infarction, Myopathy, Myopia, Myositis, Necrosis, Neoplasms, Nervous system disease, Nervous System Diseases, Nervous System Disorder, Neural Crest Tumor, Neurodegenerative disorder, Neurodegenerative Disorders, Neuromyelitis Optica, Neuronal Heterotopia, Neuropathy, Neurosensory Hearing impairment, Non-Syndromic Intellectual Disability, X-Linked, Nonorganic Psychosis, Nystagmus, Obesity, Obsessive-Compulsive Disorder, Ocular Hypertension, Ohdo syndrome, X-linked, Open angle glaucoma, Optic Atrophy, Optic Atrophy Plus Syndrome, Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy, Optic Neuropathy, Osteoarthrosis Deformans, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Paraparesis, Parkinson disease, Partial Agenesis Of Corpus Callosum, Partial epilepsy, Pelvic inflammatory disease, Peripheral axonal neuropathy, Peripheral nervous system disease, Peripheral Neuropathy, Phobic Anxiety Disorder, Phyllodes Tumor, Pierre-Robin Syndrome, Plagiocephaly, Polyneuropathy, Progressive External Ophthalmoplegia, Prostate adenocarcinoma, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Psychosis, Ptosis, Pulmonary arterial hypertension, Renal Carcinoma, Renal cell carcinoma, Retinal detachment, Rhabdomyosarcoma, Scoliosis, Secondary parkinson disease, Seizure, Seizures, Senile Dementia, Sensorimotor neuropathy, Sex Cord-Stromal Tumor, Simpson syndrome, Sjogren syndrome, Sleep deprivation, Small cell lung carcinoma, Social Communication Disorder, Soft Tissue Neoplasms, Spastic ataxia, Spastic paraplegia, Speech Disorders, Spinocerebellar ataxia, Squamous cell carcinoma, Stenosis Of External Auditory Canal, Strabismus, Stroke, Submucosal cleft palate, Syndactyly, Syndactyly of fingers, Syndactyly Of The Toes, Temporal Pallor Of Optic Disc, Thanatophoric Dysplasia, Thoracic Aortic Aneurysm And Aortic Dissection, Thyroid cancer, Thyroid Carcinoma, Thyroid Diseases, Thyroid Neoplasm, Transposition Of Great Vessels, Triple negative breast cancer, Triple Negative Breast Neoplasms, Turcot syndrome, Urogenital Abnormalities, Uterine Fibroids, Uterine polyp, Ventricular septal defect, Vestibular disease, Visceral neuropathy, Visual disorder

Curated: Alzheimer disease, Nonsyndromic intellectual disability, Platelet-type bleeding disorder, Developmental disability, Digestive system disease, Diverticular disease, Insomnia, Intellectual developmental disorder, Irritable bowel syndrome, Neurodevelopmental disorder, Non-specific syndromic intellectual disability, Parkinson disease, Thrombocytopenia, nizon-isidor syndrome

Unreviewed: Autism, Congenital abnormalities, Corpus callosum agenesis, Diverticular Diseases, Epilepsy, Mental retardation, Motor delay, Myocardial infarction, Non-Syndromic Intellectual Disability, Prostatic neoplasm, Stomach neoplasms