Genes?

Curated: Deglutition disorder, Mitochondrial complex deficiency, mitochondrial disease

Unreviewed: Autoimmune Diseases, Diabetes Mellitus, Diabetes mellitus, type 1, Diabetes mellitus, type 2, Down syndrome, Graves ophthalmopathy, Insomnia, Renal cell carcinoma, Stomach neoplasms, Venous thromboembolism

Curated: N/A

Unreviewed: N/A

Curated: Ataxia with polyneuropathy, Bicuspid aortic valve, Cardiomyopathy, Cerebellar ataxia, Cerebellar atrophy, Charcot-marie-tooth disease, Cleft palate and bilateral cleft lip, Diabetes mellitus, Gonadal dysgenesis, Hypertrophy, Systemic lupus erythematosus, Melas syndrome, Mitochondrial complex deficiency, Mitochondrial disease, Multiple sclerosis, Mitochondrial myopathy with sideroblastic anemia, Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Optic neuropathy, Parkinson disease, Periodic paralysis, Rod-cone dystrophy, Postaxial polydactyly

Unreviewed: Acute Myeloid Leukemia, Adenocarcinoma, Amyotrophic Lateral Sclerosis, Asthenozoospermia, Ataxia, Ataxia and polyneuropathy, Ataxia Telangiectasia, Autism, Autoimmune disease, Autoimmune Diseases, Basal ganglia cysts, Brain disease, Brain neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Cardiomyopathy, apical hypertrophic and neuropathy, Carnitine acetyltransferase deficiency, Cerebral cortical atrophy, Charcot-Marie-Tooth Disease, Childhood obesity, Choreoathetosis, Cleft Palate And Bilateral Cleft Lip, Coenzyme Q10 Deficiency, Colorectal neoplasm, Coronary artery disease, Dementia, Demyelinating neuropathy, Developmental Delay, Developmental regression, Diabetes Mellitus, Diabetes mellitus, type 2, Diarrhea, Distal hereditary motor neuropathy, Down Syndrome, Dwarfism, Dysarthria, Dyskinetic Syndrome, Dysphagia, Epilepsy, Episodic ataxia, Esophageal neoplasm, Gastroesophageal Reflux Disease, Glomerulonephritis, Hearing Loss, Hemiplegia, Hemolytic uremic syndrome, Hereditary breast and ovarian cancer syndrome, Hereditary Leber Optic Atrophy, Hereditary spastic paraplegia, High Altitude Pulmonary Edema, Histiocytoid Cardiomyopathy, Holocarboxylase Synthetase Deficiency, Horizontal pendular nystagmus, Huntington disease, Hyperlipidemia, Hypertension, Hypertrophic cardiomyopathy, Hypogonadism, Iga nephropathy, Intellectual developmental disorder, Irritable bowel syndrome, Isolated ATP Synthase Deficiency, Kearns Sayre Syndrome, Kidney Disease, Lactic acidosis, Language development disorders, Learning disorders, Leigh Syndrome, Leprosy, Liver failure, Lung disease, Lupus Erythematosus, Lymphoblastic Leukemia, Major depressive disorder, Male infertility, Maternally Inherited Leigh Syndrome, MELAS Syndrome, Mental retardation, MERRF Syndrome, Metabolic Syndrome, Microcephaly, Migraine, Mitochondrial Cardiomyopathy, Mitochondrial Complex Deficiency, Mitochondrial Diseases, Mitochondrial encephalomyopathy, Mitochondrial myopathy, Mitochondrial Myopathy And Sideroblastic Anemia, Mitochondrial Spastic Paraplegia, Mouth neoplasm, Multiple Sclerosis, Myocardial infarction, Myoclonic epilepsy with ragged red fibers, Myoclonic Seizures, Myopathy, Myopathy, lactic acidosis, and sideroblastic anemia, Neoplasms, Nervous system disease, Nervous System Diseases, Nervous System Disorder, Neurodegenerative disorder, Neurodegenerative Disorders, Neuropathy Ataxia And Retinis Pigmentosa, Nystagmus, Obesity, Ophthalmoplegia, Optic Atrophy, Osteoporosis, Osteosarcoma, Ovarian Failure, Paresis, Periodic Paralysis With Distal Motor Neuropathy, Peripheral axonal neuropathy, Peripheral nervous system disease, Peripheral Neuropathy, Polycystic ovary syndrome, Polyneuropathy, Postaxial hand polydactyly, Prostate cancer, Prostatic neoplasm, Pulmonary edema, Respiration Disorders, Respiratory Tract Diseases, Retinal Diseases, Retinal telangiectasia, Retinitis Pigmentosa, RHYNS Syndrome, Sarcoidosis, Schizophrenia, Seizure, Seizures, Sensorimotor neuropathy, Sensory neuropathy, Spastic ataxia, Spastic paraplegia, Spastic tetraparesis, Spinocerebellar Ataxia, Strabismus, Striatonigral Degeneration, Trichohepatoenteric Syndrome, Ventricular preexcitation, West Syndrome, Wolff-Parkinson-White Syndrome

Curated: Ataxia with polyneuropathy, Bicuspid aortic valve, Cardiomyopathy, Cerebellar ataxia, Cerebellar atrophy, Charcot-marie-tooth disease, Cleft palate and bilateral cleft lip, Diabetes mellitus, Gonadal dysgenesis, Hypertrophy, Systemic lupus erythematosus, Melas syndrome, Mitochondrial complex deficiency, Mitochondrial disease, Multiple sclerosis, Mitochondrial myopathy with sideroblastic anemia, Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Optic neuropathy, Parkinson disease, Periodic paralysis, Rod-cone dystrophy, Postaxial polydactyly

Unreviewed: Acute Myeloid Leukemia, Adenocarcinoma, Amyotrophic Lateral Sclerosis, Asthenozoospermia, Ataxia, Ataxia and polyneuropathy, Ataxia Telangiectasia, Autism, Autoimmune disease, Autoimmune Diseases, Basal ganglia cysts, Brain disease, Brain neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Cardiomyopathy, apical hypertrophic and neuropathy, Carnitine acetyltransferase deficiency, Cerebral cortical atrophy, Charcot-Marie-Tooth Disease, Childhood obesity, Choreoathetosis, Cleft Palate And Bilateral Cleft Lip, Coenzyme Q10 Deficiency, Colorectal neoplasm, Coronary artery disease, Dementia, Demyelinating neuropathy, Developmental Delay, Developmental regression, Diabetes Mellitus, Diabetes mellitus, type 2, Diarrhea, Distal hereditary motor neuropathy, Down Syndrome, Dwarfism, Dysarthria, Dyskinetic Syndrome, Dysphagia, Epilepsy, Episodic ataxia, Esophageal neoplasm, Gastroesophageal Reflux Disease, Glomerulonephritis, Hearing Loss, Hemiplegia, Hemolytic uremic syndrome, Hereditary breast and ovarian cancer syndrome, Hereditary Leber Optic Atrophy, Hereditary spastic paraplegia, High Altitude Pulmonary Edema, Histiocytoid Cardiomyopathy, Holocarboxylase Synthetase Deficiency, Horizontal pendular nystagmus, Huntington disease, Hyperlipidemia, Hypertension, Hypertrophic cardiomyopathy, Hypogonadism, Iga nephropathy, Intellectual developmental disorder, Irritable bowel syndrome, Isolated ATP Synthase Deficiency, Kearns Sayre Syndrome, Kidney Disease, Lactic acidosis, Language development disorders, Learning disorders, Leigh Syndrome, Leprosy, Liver failure, Lung disease, Lupus Erythematosus, Lymphoblastic Leukemia, Major depressive disorder, Male infertility, Maternally Inherited Leigh Syndrome, MELAS Syndrome, Mental retardation, MERRF Syndrome, Metabolic Syndrome, Microcephaly, Migraine, Mitochondrial Cardiomyopathy, Mitochondrial Complex Deficiency, Mitochondrial Diseases, Mitochondrial encephalomyopathy, Mitochondrial myopathy, Mitochondrial Myopathy And Sideroblastic Anemia, Mitochondrial Spastic Paraplegia, Mouth neoplasm, Multiple Sclerosis, Myocardial infarction, Myoclonic epilepsy with ragged red fibers, Myoclonic Seizures, Myopathy, Myopathy, lactic acidosis, and sideroblastic anemia, Neoplasms, Nervous system disease, Nervous System Diseases, Nervous System Disorder, Neurodegenerative disorder, Neurodegenerative Disorders, Neuropathy Ataxia And Retinis Pigmentosa, Nystagmus, Obesity, Ophthalmoplegia, Optic Atrophy, Osteoporosis, Osteosarcoma, Ovarian Failure, Paresis, Periodic Paralysis With Distal Motor Neuropathy, Peripheral axonal neuropathy, Peripheral nervous system disease, Peripheral Neuropathy, Polycystic ovary syndrome, Polyneuropathy, Postaxial hand polydactyly, Prostate cancer, Prostatic neoplasm, Pulmonary edema, Respiration Disorders, Respiratory Tract Diseases, Retinal Diseases, Retinal telangiectasia, Retinitis Pigmentosa, RHYNS Syndrome, Sarcoidosis, Schizophrenia, Seizure, Seizures, Sensorimotor neuropathy, Sensory neuropathy, Spastic ataxia, Spastic paraplegia, Spastic tetraparesis, Spinocerebellar Ataxia, Strabismus, Striatonigral Degeneration, Trichohepatoenteric Syndrome, Ventricular preexcitation, West Syndrome, Wolff-Parkinson-White Syndrome

Curated: Ataxia with polyneuropathy, Bicuspid aortic valve, Cardiomyopathy, Cerebellar ataxia, Cerebellar atrophy, Charcot-marie-tooth disease, Cleft palate and bilateral cleft lip, Diabetes mellitus, Gonadal dysgenesis, Hypertrophy, Systemic lupus erythematosus, Melas syndrome, Mitochondrial complex deficiency, Mitochondrial disease, Multiple sclerosis, Mitochondrial myopathy with sideroblastic anemia, Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Optic neuropathy, Parkinson disease, Periodic paralysis, Rod-cone dystrophy, Postaxial polydactyly

Unreviewed: Acute Myeloid Leukemia, Adenocarcinoma, Amyotrophic Lateral Sclerosis, Asthenozoospermia, Ataxia, Ataxia and polyneuropathy, Ataxia Telangiectasia, Autism, Autoimmune disease, Autoimmune Diseases, Basal ganglia cysts, Brain disease, Brain neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Cardiomyopathy, apical hypertrophic and neuropathy, Carnitine acetyltransferase deficiency, Cerebral cortical atrophy, Charcot-Marie-Tooth Disease, Childhood obesity, Choreoathetosis, Cleft Palate And Bilateral Cleft Lip, Coenzyme Q10 Deficiency, Colorectal neoplasm, Coronary artery disease, Dementia, Demyelinating neuropathy, Developmental Delay, Developmental regression, Diabetes Mellitus, Diabetes mellitus, type 2, Diarrhea, Distal hereditary motor neuropathy, Down Syndrome, Dwarfism, Dysarthria, Dyskinetic Syndrome, Dysphagia, Epilepsy, Episodic ataxia, Esophageal neoplasm, Gastroesophageal Reflux Disease, Glomerulonephritis, Hearing Loss, Hemiplegia, Hemolytic uremic syndrome, Hereditary breast and ovarian cancer syndrome, Hereditary Leber Optic Atrophy, Hereditary spastic paraplegia, High Altitude Pulmonary Edema, Histiocytoid Cardiomyopathy, Holocarboxylase Synthetase Deficiency, Horizontal pendular nystagmus, Huntington disease, Hyperlipidemia, Hypertension, Hypertrophic cardiomyopathy, Hypogonadism, Iga nephropathy, Intellectual developmental disorder, Irritable bowel syndrome, Isolated ATP Synthase Deficiency, Kearns Sayre Syndrome, Kidney Disease, Lactic acidosis, Language development disorders, Learning disorders, Leigh Syndrome, Leprosy, Liver failure, Lung disease, Lupus Erythematosus, Lymphoblastic Leukemia, Major depressive disorder, Male infertility, Maternally Inherited Leigh Syndrome, MELAS Syndrome, Mental retardation, MERRF Syndrome, Metabolic Syndrome, Microcephaly, Migraine, Mitochondrial Cardiomyopathy, Mitochondrial Complex Deficiency, Mitochondrial Diseases, Mitochondrial encephalomyopathy, Mitochondrial myopathy, Mitochondrial Myopathy And Sideroblastic Anemia, Mitochondrial Spastic Paraplegia, Mouth neoplasm, Multiple Sclerosis, Myocardial infarction, Myoclonic epilepsy with ragged red fibers, Myoclonic Seizures, Myopathy, Myopathy, lactic acidosis, and sideroblastic anemia, Neoplasms, Nervous system disease, Nervous System Diseases, Nervous System Disorder, Neurodegenerative disorder, Neurodegenerative Disorders, Neuropathy Ataxia And Retinis Pigmentosa, Nystagmus, Obesity, Ophthalmoplegia, Optic Atrophy, Osteoporosis, Osteosarcoma, Ovarian Failure, Paresis, Periodic Paralysis With Distal Motor Neuropathy, Peripheral axonal neuropathy, Peripheral nervous system disease, Peripheral Neuropathy, Polycystic ovary syndrome, Polyneuropathy, Postaxial hand polydactyly, Prostate cancer, Prostatic neoplasm, Pulmonary edema, Respiration Disorders, Respiratory Tract Diseases, Retinal Diseases, Retinal telangiectasia, Retinitis Pigmentosa, RHYNS Syndrome, Sarcoidosis, Schizophrenia, Seizure, Seizures, Sensorimotor neuropathy, Sensory neuropathy, Spastic ataxia, Spastic paraplegia, Spastic tetraparesis, Spinocerebellar Ataxia, Strabismus, Striatonigral Degeneration, Trichohepatoenteric Syndrome, Ventricular preexcitation, West Syndrome, Wolff-Parkinson-White Syndrome

Curated: Congenital disorder of glycosylation, Immunodeficiency, Lymphoma, Intellectual developmental disorder, x-linked, congenital disorder of glycosylation type II

Unreviewed: Agammaglobulinemia, Breast neoplasm, Carcinogenesis, Central nervous system disease, Cirrhosis, Cognition disorder, Cutis Laxa, Distal Renal Tubular Acidosis, Dystonia, Exocrine pancreatic insufficiency, Fatty Liver, Glioma, Glycogen storage disease, Hearing Loss, Hepatocellular carcinoma, Hydrocephalus, Hyperopia, Hypospadias, Leukopenia, Liver failure, Myeloid Leukemia, Neoplasms, Nervous system disease, Spinocerebellar ataxia

Curated: N/A

Unreviewed: N/A

Curated: N/A

Unreviewed: Breast Cancer, Breast Carcinoma, Breast neoplasm, Mammary Neoplasms, Marfan Syndrome, Stress Disorder

Curated: Congenital disorder of glycosylation, Craniofacial abnormalities, Intellectual developmental disorder, x-linked, Parkinsonism with spasticity, x-linked, X-linked intellectual disability, X-linked parkinsonism-spasticity syndrome, ATP6AP2-related disorder

Unreviewed: Adenocarcinoma, Age-related macular degeneration, Agraphesthesia, Anophthalmia, Aortic Valve Insufficiency, Aortic Valve Sclerosis, Apraxia, Arteriosclerosis, Arthrocutaneouveal granulomatosis, Atherosclerosis, Atrial Fibrillation, Autoimmune Diseases, Autonomic Central Nervous System Diseases, Breast Cancer, Breast Carcinoma, Breast neoplasm, Bronchiolitis, Carcinogenesis, Cardiomyopathy, Cardiovascular disease, Cardiovascular Diseases, Cerebellar atrophy, Cerebral Atrophy, Cerebrovascular Disorders, Cirrhosis, Colorectal adenoma, Colorectal Cancer, Congenital anomalies of kidney and urinary tract, Congestive Heart Failure, Conn Adenoma, Conn Syndrome, Coronary artery disease, Coronary Heart Disease, Diabetes, Diabetes Insipidus, Diabetes Mellitus, Diabetes mellitus, type 2, Diabetic cardiomyopathy, Diabetic Nephropathy, Diabetic neuropathy, Diabetic Retinopathy, Ductal carcinoma, Dysautonomia, Eclampsia, Endometrial Cancer, Endometrial carcinoma, Endometrial neoplasm, Epidermolysis Bullosa, Epilepsy, Erythroblastic Leukemia, Glioblastoma, Glioma, Glomerulonephritis, Glomerulosclerosis, Glycogen Storage Disease, Graves Disease, Heart Failure, Hemangioma, Hyperglycemia, Hypertension, Hyperthyroidism, Hypoplasia Of Corpus Callosum, Hypotonic seizures, Iga nephropathy, Impaired Cognition, Inflammatory abnormality of the eye, Intellectual developmental disorder, Invasive Duct and Lobular Carcinoma, Kawasaki disease, Kidney Disease, Kidney Failure, Left Ventricular Hypertrophy, Liver carcinoma, Lung Cancer, Lung carcinoma, Lung neoplasms, Male infertility, Malignant Neoplasm, Mental Depression, Mental retardation, Mental Retardation with Epilepsy,X-Linked, Mental Retardation, X-Linked, Metabolic Syndrome, Motor delay, Multiple Sclerosis, Myocardial Infarction, Neoplasms, Nephrogenic Diabetes Insipidus, Nervous system disease, Neurodegenerative Disorders, Obesity, Pancreatic adenocarcinoma, Pancreatic ductal carcinoma, Pancreatic neoplasm, Papillary Craniopharyngioma, Parkinson disease, Parkinsonism-Spasticity Syndrome, X-Linked, Peritoneal Fibrosis, Pigmentary Disorder, Reticulate, With Systemic Manifestations, Proliferative Diabetic Retinopathy, Promyelocytic Leukemia, Prostate cancer, Pulmonary Fibrosis, Renal cell carcinoma, Scoliosis, Secondary parkinson disease, Seizure, Sleep Apnea, Squamous cell carcinoma, Strawberry Nevus Of Skin, Vascular disease

Curated: Asthma, Autism, Cerebellar ataxia, Neurodevelopmental disorder, Developmental and epileptic encephalopathy, Esophageal atresia, Global developmental delay, Intellectual developmental disorder, Non-specific syndromic intellectual disability, Seizures

Unreviewed: Breast neoplasm, Carcinogenesis, Carotid artery stenosis, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Encephalitis, Hepatoblastoma, Hypertension, Lung neoplasms, Malignant Neoplasm