311
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Sodium channel epithelial 1 subunit gamma |
BESC3, ENaCg, ENaCgamma, LDLS2, PHA1, PHA1B3, SCNEG |
Curated: Autism, Bronchiectasis, Cystic fibrosis, Focal segmental glomerulosclerosis, Hypertension, Hypotension, Liddle syndrome, Pseudohypoparathyroidism
Unreviewed: Bartter syndrome, Breast neoplasm, Carcinogenesis, Carcinoma, Ciliopathies, Colorectal Cancer, Cystic Fibrosis, Cystic fibrosis of pancreas, Dilated cardiomyopathy, Gastric Cancer, Glioma, Hepatocellular carcinoma, Hyperaldosteronism, Hypercalcemia, Hypernatriuria, Hyperpotassemia And Hypertension, Hypoaldosteronism, Kidney Disease, Liddle Syndrome, Lung Diseases, Metabolic alkalosis, Multicystic renal dysplasia, Myocardial Infarction, Pancreatic carcinoma, Pelger-Huet Anomaly, Pituitary dwarfism, Polycystic ovary syndrome, Pseudohypoaldosteronism, Pulmonary arterial hypertension, Pulmonary Cystic Fibrosis, Pulmonary edema, Pyelonephritis, Renal Insufficiency, Sarcoma, Squamous cell carcinoma, Ulcerative colitis
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312
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Synthesis of cytochrome C oxidase 1 |
MC4DN4, SCOD1 |
Curated: Brain disease, Cytochrome c oxidase deficiency, Heart disease, Leigh syndrome, Liver disease, Liver failure, Mitochondrial complex deficiency, Mitochondrial disease
Unreviewed: Anemia, Autoimmune Diseases, Cardioencephalomyopathy, Cardiomyopathy, Cytochrome-C Oxidase Deficiency, Developmental Delay, Diabetes Mellitus, Epileptic encephalopathy, Fanconi syndrome, Fatal Cytochrome C Oxidase Deficiency, Glioblastoma, Hearing Loss, Heart Diseases, High palate, Hypertrophic cardiomyopathy, Hypocupremia, Leukoencephalopathy, Lupus Erythematosus, Mental retardation, Mitochondrial Diseases, Mitochondrial Electron Transport Chain Deficiencies, Mitochondrial Respiratory Chain Deficiencies, Motor delay, Myasthenia Gravis, Optic Atrophy, Oxidative Phosphorylation Deficiency, Phosphate Diabetes, Ptosis, Pulmonary arterial hypertension, Renal Tubular Disorder, Retinitis Pigmentosa, Spinocerebellar ataxia
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313
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Synthesis of cytochrome C oxidase 2 |
CEMCOX1, ECGF1, Gliostatin, MC4DN2, MYP6, PD-ECGF, SCO1L, TP, TYMP, TdRPase |
Curated: Charcot-marie-tooth disease, Brain disease, Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Cardiomyopathy, Dilated cardiomyopathy, Cytochrome c oxidase deficiency, Hypertrophic cardiomyopathy, Leigh syndrome, Mitochondrial complex deficiency, Mitochondrial dna depletion syndrome, Mitochondrial encephalomyopathy, Myopia, Retinitis pigmentosa, mitochondrial disease
Unreviewed: 22q13 monosomy syndrome, Actinic keratosis, Adenocarcinoma, Adenocarcinoma Of Rectum, Adenoma, Adrenogenital Syndrome, Alpers Syndrome, Alpha 1-Antitrypsin Deficiency, Anaplastic Astrocytoma, Anaplastic Carcinoma, Anemia, Ankylosing spondylitis, Aortic Aneurysm, Arteriosclerosis, Atherosclerosis, Autism, Barrett esophagus, Basal cell carcinoma, Bile duct neoplasms, Bladder carcinoma, Bladder Neoplasm, Bone Disease, Bone resorption, Breast Cancer, Breast Carcinoma, Breast neoplasm, Cachexia, Carcinoma, Carcinoma Of The Head And Neck, Carcinoma in situ, Cardiac arrhythmias, Cardioencephalomyopathy, Cardiovascular Diseases, Central Nervous System Inborn Metabolic Diseases, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Charcot-Marie-Tooth Disease, Cholangiocarcinoma, Cirrhosis, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Congenital adrenal hyperplasia, Congestive Heart Failure, Coronary Heart Disease, Cytochrome-C Oxidase Deficiency, Dementia, Demyelinating neuropathy, Dental caries, Developmental Delay, Developmental regression, Diabetes Mellitus, Diabetes mellitus, type 2, Diarrhea, Distal amyotrophy, Ductal carcinoma, Dysarthria, Dyskinetic Syndrome, Dysphagia, Dystonia, Endometrial Cancer, Endometrial carcinoma, Endometrial neoplasm, Endometrial Neoplasms, Endometrioid cancer, Endometrioma, Endometriosis, Epileptic encephalopathy, Epithelial ovarian carcinoma, Esophageal Cancer, Esophageal Carcinoma, Esophageal neoplasm, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Ethylmalonic Encephalopathy, Exotropia, External Ophthalmoplegia, Extraocular Muscle Paresis, Fatal Cytochrome C Oxidase Deficiency, Fatty Liver, Gallbladder cancer, Gallbladder neoplasm, Gastric Cancer, Gastroesophageal Reflux Disease, Gastrointestinal neoplasm, Gastroparesis, Glioblastoma, Glioma, Graft-versus-host disease, Graft-Vs-Host Disease, Head and neck cancer, Head And Neck Carcinoma, Hearing Loss, Heart disease, Hematologic neoplasm, Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatitis b, Hepatocellular carcinoma, Hereditary Motor Neuropathy, Hereditary sensory and motor neuropathy, HYPERTRICHOSIS, Hypocupremia, Hypogonadism, Hypogonadotropic Hypogonadism, Hypotonia, Hypoxia, Immune system disease, Impaired Cognition, Inborn Errors Of Metabolism, Inflammatory bowel disease, Interstitial cystitis, Intestinal Perforation, Lactic acidosis, Learning Disorders, Leigh Syndrome, Leigh Syndrome With Cardiomyopathy, Leukemia, Leukodystrophy, Leukoencephalopathy, Limb Muscle Atrophy, Lipodystrophy, Liver carcinoma, Liver Cirrhosis, Liver neoplasms, Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung neoplasms, Lupus Erythematosus, Lymphatic metastasis, Lymphoid leukemia, Major depressive disorder, Malabsorption Syndrome, Malignant gastrointestinal tract tumors, Malignant Neoplasm, Malignant Neoplasm Of Oropharynx, Malnutrition, Mammary Neoplasms, Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome, Melanoma, Mental retardation, Mesothelioma, Metabolic Diseases, Metabolic syndrome, Mitochondrial disease, Mitochondrial Diseases, Mitochondrial DNA Depletion Syndrome, Mitochondrial myopathy, Mitochondrial neurogastrointestinal encephalomyopathy, Mitochondrial trifunctional protein deficiency, Motor delay, Mouth Neoplasms, Mucinous Adenocarcinoma, Multiple myeloma, Multiple sclerosis, Myasthenia Gravis, Myocardial Diseases, Myocardial Ischemia, Myxoma, Nasopharyngeal Carcinoma, Necrotizing encephalomyelopathy, Neoplasms, Nervous system disease, Nervous System Diseases, Neuroblastoma, Neuropathy, Neutropenia, Niemann-Pick Disease, Nystagmus, Optic Atrophy, Oropharyngeal Carcinoma, Oropharyngeal neoplasm, Osteoarthritis, Ovarian cancer, Ovarian Carcinoma, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pancreatic Neoplasm, Papillary thyroid carcinoma, Paraganglioma, Periodontitis, Peripheral axonal neuropathy, Peripheral nervous system disease, Peripheral Neuropathy, Peritoneal Carcinoma, Polyneuropathy, Polyp Of Large Intestine, Progressive External Ophthalmoplegia, Prostate cancer, Prostatic Neoplasms, Ptosis, Pulmonary Stenosis, Rare Isolated Myopia, Rectal Carcinoma, Renal agenesis, Renal Carcinoma, Renal cell carcinoma, Renal dysplasia, Respiratory Failure, Retinal Diseases, Rheumatoid arthritis, Sarcoma, Sensorimotor neuropathy, Sick sinus syndrome, Skin Neoplasms, Small intestinal dysmotility, Spinal Muscular Atrophy, Squamous cell carcinoma, Stevens-Johnson Syndrome, Stomach Carcinoma, Stomach Neoplasms, Synovitis, Systemic lupus erythematosus, Tetralogy of Fallot, Thrombocytosis, Transitional cell carcinoma, Triple Negative Breast Neoplasms, Turcot syndrome, Urinary bladder cancer, Urinary bladder neoplasms, Uterine neoplasm, Uterine polyp, Vacterl association, Vascular disease, Ventricular septal defect, Visceral Myopathy, Visceral neuropathy, Von Willebrand Disorder
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317
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Sterol carrier protein 2 |
NLTP, NSL-TP, SCOX, SCP-2, SCP-CHI, SCP-X, SCPX |
Curated: Sterol carrier protein 2 deficiency, Dystonia, Leukodystrophy, Polyneuropathy, Hearing loss
Unreviewed: N/A
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320
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Serine carboxypeptidase 1 |
HSCP1, RISC |
Curated: Colorectal cancer, Glaucoma
Unreviewed: Breast Cancer, Breast Carcinoma, Diabetes, Diabetes Mellitus, Hyperglycemia, Hypertension, Leukemia, Liver Cancer, Liver carcinoma, Lymphoma, Malignant Neoplasm Of Testis, Mental Depression, Multiple myeloma, Myeloid Leukemia, Neoplasms, Osteosarcoma, Pancreatic carcinoma, Pancreatitis, Parapsoriasis, Renal Carcinoma, Schizophrenia, Sveinsson Chorioretinal Atrophy, Temporomandibular Joint Disorders
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