301
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Mitochondrially encoded NADH 4L dehydrogenase |
MTND4L |
Curated: Cerebellar ataxia, Cleft palate and bilateral cleft lip, Diabetes mellitus, Mitochondrial complex deficiency, Mitochondrial disease, Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Rod-cone dystrophy, Postaxial polydactyly
Unreviewed: Alzheimer disease, Colorectal Cancer, Esophageal neoplasm, Hereditary Leber Optic Atrophy, Huntington disease, Lactic acidosis, Leigh syndrome, Melas syndrome, Mitochondrial encephalomyopathy, Myopathy, Neoplasms, Nervous System Diseases, Optic Atrophy, Polyneuropathy, Renal cell carcinoma, Retinal telangiectasia, Ventricular preexcitation, Visual disorder, Wolff-Parkinson-White Syndrome
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302
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Curated: Cerebellar ataxia, Cleft palate and bilateral cleft lip, Diabetes mellitus, Mitochondrial complex deficiency, Mitochondrial disease, Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Rod-cone dystrophy, Postaxial polydactyly
Unreviewed: Alzheimer disease, Colorectal Cancer, Esophageal neoplasm, Hereditary Leber Optic Atrophy, Huntington disease, Lactic acidosis, Leigh syndrome, Melas syndrome, Mitochondrial encephalomyopathy, Myopathy, Neoplasms, Nervous System Diseases, Optic Atrophy, Polyneuropathy, Renal cell carcinoma, Retinal telangiectasia, Ventricular preexcitation, Visual disorder, Wolff-Parkinson-White Syndrome
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303
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Curated: Cerebellar ataxia, Cleft palate and bilateral cleft lip, Diabetes mellitus, Mitochondrial complex deficiency, Mitochondrial disease, Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Rod-cone dystrophy, Postaxial polydactyly
Unreviewed: Alzheimer disease, Colorectal Cancer, Esophageal neoplasm, Hereditary Leber Optic Atrophy, Huntington disease, Lactic acidosis, Leigh syndrome, Melas syndrome, Mitochondrial encephalomyopathy, Myopathy, Neoplasms, Nervous System Diseases, Optic Atrophy, Polyneuropathy, Renal cell carcinoma, Retinal telangiectasia, Ventricular preexcitation, Visual disorder, Wolff-Parkinson-White Syndrome
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304
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Mitochondrially encoded NADH dehydrogenase 5 |
MTND5 |
Curated: Hepatocellular carcinoma, Cerebellar ataxia, Cleft palate and bilateral cleft lip, Congenital cardiomyopathy, Developmental delay, Hearing loss, Leber hereditary optic neuropathy, Leigh syndrome, Melas syndrome, Myoclonic epilepsy with ragged red fibers, Mitochondrial complex deficiency, Mitochondrial disease, Neuropathy, ataxia, and retinitis pigmentosa, Parkinson disease, Rod-cone dystrophy, Postaxial polydactyly
Unreviewed: Addison`s Disease, Alzheimer disease, Amyotrophic Lateral Sclerosis, Anorexia, Anxiety Disorder, Aortic Aneurysm, Aortic dissection, Aphasia, Arthrogryposis multiplex congenita, Atherosclerosis, Attention Deficit Hyperactivity Disorder, Autism, Biventricular hypertrophy, Breast Cancer, Breast Carcinoma, Breast disease, Breast neoplasm, Cardiomyopathy, Cardiovascular Diseases, Cataract, Central Visual Impairment, Cerebral cortical atrophy, Cholangiocarcinoma, Colorectal Neoplasms, Congestive Heart Failure, Coronary artery disease, Creutzfeldt-Jakob disease, Cytochrome c oxidase deficiency, Deafness, Dementia, Demyelinating neuropathy, Developmental disability, Developmental regression, Diabetes, Diabetes and Hearing Loss, Diabetes Mellitus, Diabetes mellitus, type 2, Dwarfism, Dysarthria, Dyskinetic Syndrome, Dysphagia, Endometriosis, Epileptic encephalopathy, Epithelial ovarian carcinoma, Esophageal Carcinoma, Esophagus Neoplasm, Gastroparesis, Glycogen Storage Disease, Hallucinations, Hearing Loss, Heart Block, Hematomas, Hemianopsia, Hereditary Leber Optic Atrophy, High Altitude Pulmonary Edema, Huntington disease, Hypertension, Hyperthyroidism, Hypertrophic cardiomyopathy, Hypertrophy, Hypoparathyroidism, Hypopituitarism, Hypothyroidism, Ichthyosis, Impaired Cognition, Intestinal Obstruction, Kidney Disease, Left Ventricular Hypertrophy, Leigh Syndrome, Liver failure, Liver neoplasm, Lung adenocarcinoma, Lung carcinoma, Malabsorption Syndrome, Malformation of cortical development, Maternally Inherited Leigh Syndrome, MELAS Syndrome, Mental Depression, MERRF Syndrome, Microcephaly, Migraine, Mitochondrial Cardiomyopathy, Mitochondrial Diseases, Mitochondrial encephalomyopathy, Mitochondrial myopathy, Mouth neoplasm, Movement Disorders, Multiple Lipomata, Multiple Sclerosis, Myelodysplastic syndrome, Myoclonic Epilepsy, Myoclonic Seizures, Myopathy, Neoplasms, Nephrotic Syndrome, Nervous System Diseases, Neurodegenerative Disorders, Nonorganic Psychosis, Nyctalopia, Nystagmus, Obesity, Open angle glaucoma, Optic Atrophy, Pancreatitis, Peripheral Neuropathy, Polycystic ovary syndrome, Polyneuropathy, Psychosis, Ptosis, Pulmonary arterial hypertension, Pulmonary edema, Pulmonary hypertension, Renal Glomerular Disease, Renal Insufficiency, Retinal Diseases, Retinal telangiectasia, Retinitis Pigmentosa, Schizophrenia, Seizure, Sensorimotor neuropathy, Sensorineural hearing loss, Stress Disorder, Stroke, Thyroiditis, Vascular Diseases, Ventricular preexcitation, Very long-chain acyl-coa dehydrogenase deficiency, West Syndrome, Wolff-Parkinson-White Syndrome
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305
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Curated: Hepatocellular carcinoma, Cerebellar ataxia, Cleft palate and bilateral cleft lip, Congenital cardiomyopathy, Developmental delay, Hearing loss, Leber hereditary optic neuropathy, Leigh syndrome, Melas syndrome, Myoclonic epilepsy with ragged red fibers, Mitochondrial complex deficiency, Mitochondrial disease, Neuropathy, ataxia, and retinitis pigmentosa, Parkinson disease, Rod-cone dystrophy, Postaxial polydactyly
Unreviewed: Addison`s Disease, Alzheimer disease, Amyotrophic Lateral Sclerosis, Anorexia, Anxiety Disorder, Aortic Aneurysm, Aortic dissection, Aphasia, Arthrogryposis multiplex congenita, Atherosclerosis, Attention Deficit Hyperactivity Disorder, Autism, Biventricular hypertrophy, Breast Cancer, Breast Carcinoma, Breast disease, Breast neoplasm, Cardiomyopathy, Cardiovascular Diseases, Cataract, Central Visual Impairment, Cerebral cortical atrophy, Cholangiocarcinoma, Colorectal Neoplasms, Congestive Heart Failure, Coronary artery disease, Creutzfeldt-Jakob disease, Cytochrome c oxidase deficiency, Deafness, Dementia, Demyelinating neuropathy, Developmental disability, Developmental regression, Diabetes, Diabetes and Hearing Loss, Diabetes Mellitus, Diabetes mellitus, type 2, Dwarfism, Dysarthria, Dyskinetic Syndrome, Dysphagia, Endometriosis, Epileptic encephalopathy, Epithelial ovarian carcinoma, Esophageal Carcinoma, Esophagus Neoplasm, Gastroparesis, Glycogen Storage Disease, Hallucinations, Hearing Loss, Heart Block, Hematomas, Hemianopsia, Hereditary Leber Optic Atrophy, High Altitude Pulmonary Edema, Huntington disease, Hypertension, Hyperthyroidism, Hypertrophic cardiomyopathy, Hypertrophy, Hypoparathyroidism, Hypopituitarism, Hypothyroidism, Ichthyosis, Impaired Cognition, Intestinal Obstruction, Kidney Disease, Left Ventricular Hypertrophy, Leigh Syndrome, Liver failure, Liver neoplasm, Lung adenocarcinoma, Lung carcinoma, Malabsorption Syndrome, Malformation of cortical development, Maternally Inherited Leigh Syndrome, MELAS Syndrome, Mental Depression, MERRF Syndrome, Microcephaly, Migraine, Mitochondrial Cardiomyopathy, Mitochondrial Diseases, Mitochondrial encephalomyopathy, Mitochondrial myopathy, Mouth neoplasm, Movement Disorders, Multiple Lipomata, Multiple Sclerosis, Myelodysplastic syndrome, Myoclonic Epilepsy, Myoclonic Seizures, Myopathy, Neoplasms, Nephrotic Syndrome, Nervous System Diseases, Neurodegenerative Disorders, Nonorganic Psychosis, Nyctalopia, Nystagmus, Obesity, Open angle glaucoma, Optic Atrophy, Pancreatitis, Peripheral Neuropathy, Polycystic ovary syndrome, Polyneuropathy, Psychosis, Ptosis, Pulmonary arterial hypertension, Pulmonary edema, Pulmonary hypertension, Renal Glomerular Disease, Renal Insufficiency, Retinal Diseases, Retinal telangiectasia, Retinitis Pigmentosa, Schizophrenia, Seizure, Sensorimotor neuropathy, Sensorineural hearing loss, Stress Disorder, Stroke, Thyroiditis, Vascular Diseases, Ventricular preexcitation, Very long-chain acyl-coa dehydrogenase deficiency, West Syndrome, Wolff-Parkinson-White Syndrome
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306
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Curated: Hepatocellular carcinoma, Cerebellar ataxia, Cleft palate and bilateral cleft lip, Congenital cardiomyopathy, Developmental delay, Hearing loss, Leber hereditary optic neuropathy, Leigh syndrome, Melas syndrome, Myoclonic epilepsy with ragged red fibers, Mitochondrial complex deficiency, Mitochondrial disease, Neuropathy, ataxia, and retinitis pigmentosa, Parkinson disease, Rod-cone dystrophy, Postaxial polydactyly
Unreviewed: Addison`s Disease, Alzheimer disease, Amyotrophic Lateral Sclerosis, Anorexia, Anxiety Disorder, Aortic Aneurysm, Aortic dissection, Aphasia, Arthrogryposis multiplex congenita, Atherosclerosis, Attention Deficit Hyperactivity Disorder, Autism, Biventricular hypertrophy, Breast Cancer, Breast Carcinoma, Breast disease, Breast neoplasm, Cardiomyopathy, Cardiovascular Diseases, Cataract, Central Visual Impairment, Cerebral cortical atrophy, Cholangiocarcinoma, Colorectal Neoplasms, Congestive Heart Failure, Coronary artery disease, Creutzfeldt-Jakob disease, Cytochrome c oxidase deficiency, Deafness, Dementia, Demyelinating neuropathy, Developmental disability, Developmental regression, Diabetes, Diabetes and Hearing Loss, Diabetes Mellitus, Diabetes mellitus, type 2, Dwarfism, Dysarthria, Dyskinetic Syndrome, Dysphagia, Endometriosis, Epileptic encephalopathy, Epithelial ovarian carcinoma, Esophageal Carcinoma, Esophagus Neoplasm, Gastroparesis, Glycogen Storage Disease, Hallucinations, Hearing Loss, Heart Block, Hematomas, Hemianopsia, Hereditary Leber Optic Atrophy, High Altitude Pulmonary Edema, Huntington disease, Hypertension, Hyperthyroidism, Hypertrophic cardiomyopathy, Hypertrophy, Hypoparathyroidism, Hypopituitarism, Hypothyroidism, Ichthyosis, Impaired Cognition, Intestinal Obstruction, Kidney Disease, Left Ventricular Hypertrophy, Leigh Syndrome, Liver failure, Liver neoplasm, Lung adenocarcinoma, Lung carcinoma, Malabsorption Syndrome, Malformation of cortical development, Maternally Inherited Leigh Syndrome, MELAS Syndrome, Mental Depression, MERRF Syndrome, Microcephaly, Migraine, Mitochondrial Cardiomyopathy, Mitochondrial Diseases, Mitochondrial encephalomyopathy, Mitochondrial myopathy, Mouth neoplasm, Movement Disorders, Multiple Lipomata, Multiple Sclerosis, Myelodysplastic syndrome, Myoclonic Epilepsy, Myoclonic Seizures, Myopathy, Neoplasms, Nephrotic Syndrome, Nervous System Diseases, Neurodegenerative Disorders, Nonorganic Psychosis, Nyctalopia, Nystagmus, Obesity, Open angle glaucoma, Optic Atrophy, Pancreatitis, Peripheral Neuropathy, Polycystic ovary syndrome, Polyneuropathy, Psychosis, Ptosis, Pulmonary arterial hypertension, Pulmonary edema, Pulmonary hypertension, Renal Glomerular Disease, Renal Insufficiency, Retinal Diseases, Retinal telangiectasia, Retinitis Pigmentosa, Schizophrenia, Seizure, Sensorimotor neuropathy, Sensorineural hearing loss, Stress Disorder, Stroke, Thyroiditis, Vascular Diseases, Ventricular preexcitation, Very long-chain acyl-coa dehydrogenase deficiency, West Syndrome, Wolff-Parkinson-White Syndrome
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307
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Mitochondrially encoded NADH dehydrogenase 6 |
MTND6 |
Curated: Auditory neuropathy, Blindness, Dysarthria, Leber hereditary optic neuropathy, Leigh syndrome, Melas syndrome, Mitochondrial disease, Optic atrophy, Paresthesia, Parkinson disease, Spinal muscular atrophy
Unreviewed: Addison`s Disease, Alzheimer disease, Anorexia, Anxiety Disorder, Aortic Aneurysm, Aortic dissection, Aphasia, Arthrogryposis multiplex congenita, Atherosclerosis, Attention Deficit Hyperactivity Disorder, Autism, Brain stem neoplasms, Breast neoplasm, Cardiomyopathy, Cardiovascular disease, Cataract, Central Visual Impairment, Cerebral cortical atrophy, Colorectal neoplasm, Congestive Heart Failure, Deafness, Dementia, Demyelinating neuropathy, Developmental regression, Diabetes Mellitus, Diabetes mellitus, type 2, Dwarfism, Dyskinetic Syndrome, Dysphagia, Dystonia, Epilepsy, Epileptic encephalopathy, Fatty Liver, Gastroparesis, Glioma, Hallucinations, Hearing Loss, Heart Block, Heart disease, Hematomas, Hemianopsia, Hepatocellular carcinoma, Hereditary Leber Optic Atrophy, Hereditary optic atrophy, Huntington disease, Hypersensitivity, Hypertension, Hyperthyroidism, Hypertrophic cardiomyopathy, Hypoparathyroidism, Hypopituitarism, Hypothyroidism, Hypoxia, Ichthyosis, Intestinal Obstruction, Keratoconus, Lactic acidosis, Leber Plus Disease, Left Ventricular Hypertrophy, Leigh Syndrome, Leukemia, Liver failure, Lung adenocarcinoma, Malabsorption Syndrome, Malformation of cortical development, Maternally Inherited Leigh Syndrome, MELAS Syndrome, Mental Depression, Microcephaly, Migraine, Mitochondrial complex deficiency, Mitochondrial encephalomyopathy, Mitochondrial myopathy, Multiple Lipomata, Multiple sclerosis, Myoclonic Epilepsy, Myoclonic Seizures, Myopathy, Nephrotic Syndrome, Nervous System Diseases, Nervous System Disorder, Non-Alcoholic Fatty Liver Disease, Nyctalopia, Nystagmus, Optic Atrophy, Optic Neuropathy, Osteosarcoma, Oxyphilic Adenoma, Pancreatitis, Parkinson Disease, Polyneuropathy, Prostate cancer, Prostatic neoplasm, Psychosis, Ptosis, Pulmonary arterial hypertension, Renal Glomerular Disease, Renal Insufficiency, Retinal telangiectasia, Retinitis Pigmentosa, Rod-cone dystrophy, Seizure, Seizures, Sensorimotor neuropathy, Sensorineural hearing loss, Stomach neoplasms, Stroke, Thyroiditis, Ventricular preexcitation, Very long-chain acyl-coa dehydrogenase deficiency, Visual disorder, West Syndrome, Wolff-Parkinson-White Syndrome
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308
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- |
- |
Curated: Auditory neuropathy, Blindness, Dysarthria, Leber hereditary optic neuropathy, Leigh syndrome, Melas syndrome, Mitochondrial disease, Optic atrophy, Paresthesia, Parkinson disease, Spinal muscular atrophy
Unreviewed: Addison`s Disease, Alzheimer disease, Anorexia, Anxiety Disorder, Aortic Aneurysm, Aortic dissection, Aphasia, Arthrogryposis multiplex congenita, Atherosclerosis, Attention Deficit Hyperactivity Disorder, Autism, Brain stem neoplasms, Breast neoplasm, Cardiomyopathy, Cardiovascular disease, Cataract, Central Visual Impairment, Cerebral cortical atrophy, Colorectal neoplasm, Congestive Heart Failure, Deafness, Dementia, Demyelinating neuropathy, Developmental regression, Diabetes Mellitus, Diabetes mellitus, type 2, Dwarfism, Dyskinetic Syndrome, Dysphagia, Dystonia, Epilepsy, Epileptic encephalopathy, Fatty Liver, Gastroparesis, Glioma, Hallucinations, Hearing Loss, Heart Block, Heart disease, Hematomas, Hemianopsia, Hepatocellular carcinoma, Hereditary Leber Optic Atrophy, Hereditary optic atrophy, Huntington disease, Hypersensitivity, Hypertension, Hyperthyroidism, Hypertrophic cardiomyopathy, Hypoparathyroidism, Hypopituitarism, Hypothyroidism, Hypoxia, Ichthyosis, Intestinal Obstruction, Keratoconus, Lactic acidosis, Leber Plus Disease, Left Ventricular Hypertrophy, Leigh Syndrome, Leukemia, Liver failure, Lung adenocarcinoma, Malabsorption Syndrome, Malformation of cortical development, Maternally Inherited Leigh Syndrome, MELAS Syndrome, Mental Depression, Microcephaly, Migraine, Mitochondrial complex deficiency, Mitochondrial encephalomyopathy, Mitochondrial myopathy, Multiple Lipomata, Multiple sclerosis, Myoclonic Epilepsy, Myoclonic Seizures, Myopathy, Nephrotic Syndrome, Nervous System Diseases, Nervous System Disorder, Non-Alcoholic Fatty Liver Disease, Nyctalopia, Nystagmus, Optic Atrophy, Optic Neuropathy, Osteosarcoma, Oxyphilic Adenoma, Pancreatitis, Parkinson Disease, Polyneuropathy, Prostate cancer, Prostatic neoplasm, Psychosis, Ptosis, Pulmonary arterial hypertension, Renal Glomerular Disease, Renal Insufficiency, Retinal telangiectasia, Retinitis Pigmentosa, Rod-cone dystrophy, Seizure, Seizures, Sensorimotor neuropathy, Sensorineural hearing loss, Stomach neoplasms, Stroke, Thyroiditis, Ventricular preexcitation, Very long-chain acyl-coa dehydrogenase deficiency, Visual disorder, West Syndrome, Wolff-Parkinson-White Syndrome
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309
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- |
Curated: Auditory neuropathy, Blindness, Dysarthria, Leber hereditary optic neuropathy, Leigh syndrome, Melas syndrome, Mitochondrial disease, Optic atrophy, Paresthesia, Parkinson disease, Spinal muscular atrophy
Unreviewed: Addison`s Disease, Alzheimer disease, Anorexia, Anxiety Disorder, Aortic Aneurysm, Aortic dissection, Aphasia, Arthrogryposis multiplex congenita, Atherosclerosis, Attention Deficit Hyperactivity Disorder, Autism, Brain stem neoplasms, Breast neoplasm, Cardiomyopathy, Cardiovascular disease, Cataract, Central Visual Impairment, Cerebral cortical atrophy, Colorectal neoplasm, Congestive Heart Failure, Deafness, Dementia, Demyelinating neuropathy, Developmental regression, Diabetes Mellitus, Diabetes mellitus, type 2, Dwarfism, Dyskinetic Syndrome, Dysphagia, Dystonia, Epilepsy, Epileptic encephalopathy, Fatty Liver, Gastroparesis, Glioma, Hallucinations, Hearing Loss, Heart Block, Heart disease, Hematomas, Hemianopsia, Hepatocellular carcinoma, Hereditary Leber Optic Atrophy, Hereditary optic atrophy, Huntington disease, Hypersensitivity, Hypertension, Hyperthyroidism, Hypertrophic cardiomyopathy, Hypoparathyroidism, Hypopituitarism, Hypothyroidism, Hypoxia, Ichthyosis, Intestinal Obstruction, Keratoconus, Lactic acidosis, Leber Plus Disease, Left Ventricular Hypertrophy, Leigh Syndrome, Leukemia, Liver failure, Lung adenocarcinoma, Malabsorption Syndrome, Malformation of cortical development, Maternally Inherited Leigh Syndrome, MELAS Syndrome, Mental Depression, Microcephaly, Migraine, Mitochondrial complex deficiency, Mitochondrial encephalomyopathy, Mitochondrial myopathy, Multiple Lipomata, Multiple sclerosis, Myoclonic Epilepsy, Myoclonic Seizures, Myopathy, Nephrotic Syndrome, Nervous System Diseases, Nervous System Disorder, Non-Alcoholic Fatty Liver Disease, Nyctalopia, Nystagmus, Optic Atrophy, Optic Neuropathy, Osteosarcoma, Oxyphilic Adenoma, Pancreatitis, Parkinson Disease, Polyneuropathy, Prostate cancer, Prostatic neoplasm, Psychosis, Ptosis, Pulmonary arterial hypertension, Renal Glomerular Disease, Renal Insufficiency, Retinal telangiectasia, Retinitis Pigmentosa, Rod-cone dystrophy, Seizure, Seizures, Sensorimotor neuropathy, Sensorineural hearing loss, Stomach neoplasms, Stroke, Thyroiditis, Ventricular preexcitation, Very long-chain acyl-coa dehydrogenase deficiency, Visual disorder, West Syndrome, Wolff-Parkinson-White Syndrome
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310
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NDC1 transmembrane nucleoporin |
NET3, TMEM48 |
Curated: Global developmental delay, Major depressive disorder, Mood disorder, Neurodevelopmental disorder, Polyneuropathy, Uranostaphyloschisis
Unreviewed: Intracranial Neoplasm, Lung Cancer, Lung carcinoma, Malignant Neoplasm, Meningioma, Neoplasms, Pancreatic neoplasm, Pulmonary hypoplasia
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