561
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Neurogenin 3 |
Atoh5, Math4B, NGN-3, bHLHa7, ngn3 |
Curated: Atherosclerosis, Congenital malabsorptive diarrhea, Diabetes mellitus type 2, Permanent neonatal diabetes mellitus, Congenital malabsorptive diarrhea with diabetes mellitus and combined pituitary hormone deficiency
Unreviewed: Agenesis Of Corpus Callosum, Anaplasia, Aplasia Cutis Congenita, Breast Cancer, Breast Carcinoma, Cholangitis, Cholestatic liver disease, Constipation, Diabetes, Diabetes Mellitus, Diabetes mellitus transient neonatal, Diabetes mellitus, type 1, Diabetes mellitus, type 2, Diarrhea, Dwarfism, Growth disorder, Hyperglycemia, Hyperproinsulinemia, Hypogonadism, Hypogonadotropic Hypogonadism, Ichthyosis Bullosa Of Siemens, Irritable Bowel Syndrome, Islet Cell Tumor, Malabsorption Syndrome, Mason type diabetes, Multiple Endocrine Neoplasia, Neoplasms, Obesity, Pancreatic carcinoma, Pancreatitis, Pituitary adenoma, Portal Hypertension, Sclerosing Cholangitis, Stroke
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563
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Neurite extension and migration factor |
KIAA2022, KIDLIA, MRX98, XLID98, XPN |
Curated: Epilepsy, Epilepsy with myoclonic atonic seizures, Intellectual developmental disorder, x-linked, Intellectual developmental disorder, Neurodevelopmental disorder, X-linked intellectual disability, X-linked complex neurodevelopmental disorder
Unreviewed: Amenorrhea, Atrioventricular septal defect, Autism, Autism spectrum disorder, Cerebral cortical atrophy, Continuous spike and waves during slow sleep, Developmental Delay, Developmental disability, Down syndrome, Dwarfism, Dysmorphic Features, Esotropia, Gastroesophageal Reflux Disease, Hypersensitivity, Hypoplasia Of Corpus Callosum, Hypotonia, Language development disorders, Lennox-Gastaut Syndrome, Macrotia, Mental Depression, Mental retardation, Mental Retardation, X-Linked, Myoclonic epilepsy, Myoclonic Seizures, Neurodevelopmental Disorders, Peritonitis, Seizures, Status Epilepticus, Stereotyped Behavior, Stomach neoplasms
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566
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Neurofibromin 1 |
NFNS, VRNF, WSS |
Curated: 17q11 microdeletion syndrome, 17q11.2 microduplication syndrome, Astrocytoma, Autism, Autoimmune musculoskeletal system disorder, Bardet-biedl syndrome, Cafe-au-lait spots, Cervical lymphadenopathy, Desbuquois syndrome, Digestive system disease, Diverticular disease, Embryonal nuclear cataract, Endometrial cancer, Endometrial neoplasms, Febrile convulsion, Glioblastoma, Glioma, Hemorrhoid, Insomnia, Intellectual developmental disorder, Myelomonocytic leukemia, Keratoconus, Learning disorders, Myeloid leukemia, Liposarcoma, Male infertility single gene azoospermia, Melanoma, Middle aortic syndrome, Moyamoya angiopathy, Moyamoya disease, Neurofibromatosis, Neurofibromatosis-noonan syndrome, Orofacial cleft, Osteoarthritis, Pheochromocytoma, Sarcoma, Seizures, Squamous cell carcinoma, Strabismus, Systemic lupus erythematosus, Tetralogy of fallot, Diabetes mellitus type 2, Watson syndrome
Unreviewed: Acoustic Neuroma, Acromegaly, Adenoma, Adrenal Gland Pheochromocytoma, Adrenal neoplasia, Adrenocortical carcinoma, Alagille syndrome, Alopecia, Alternating hemiplegia of childhood, Anaplasia, Anaplastic Astrocytoma, Androgen insensitivity syndrome, Aneuploidy, Angina pectoris, Anxiety disorder, Aortic Aneurysm, Aortic stenosis, Aqueductal Stenosis, Arteriosclerosis, Ataxia, Atelosteogenesis, Atherosclerosis, Atrophy, Attention Deficit Hyperactivity Disorder, Auditory perceptual disorder, Autism Spectrum Disorder, B-cell Lymphoma, Basal Cell Neoplasm, Benign Neoplasm, Beta-ketothiolase deficiency, Bicuspid aortic valve, Biliary tract neoplasms, Bipolar disorder, Blindness, Blister, Blood coagulation disorder, Bone Disease, Bone neoplasm, Bone resorption, Brain disease, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Cafe-Au-Lait Macules With Pulmonary Stenosis, Cafe-au-lait spot, Carcinogenesis, Carcinoma, Cardiovascular Abnormalities, Cardiovascular Diseases, Carotid artery disease, Central nervous system disease, Central nervous system neoplasm, Cerebral microangiopathy, Cerebrovascular disorder, Cholangiocarcinoma, Choroid diseases, Chronic pain, Cleft palate, Cognition disorder, Cognitive disorder, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colonic polyps, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Congenital abnormalities, Congenital Epicanthus, Congenital heart defect, Congenital Heart Disease, Congenital heart septal defect, Congenital Pectus Excavatum, Constipation, Contiguous gene syndrome, Corneal dystrophy, Coronary aneurysm, Crohn Disease, Cryptorchidism, Dementia, Dental Enamel Hypoplasia, Development Disorder, Developmental Delay, Developmental disability, Diabetes mellitus, type 2, Diabetic angiopathies, Diabetic Retinopathy, Ductal carcinoma, Dwarfism, Dysmorphic Features, Dysmorphism, Dysphagia, Dysthymic disorder, Ectropion, Ectropion Uveae, Edema, Embryonal carcinoma, Encephalocraniocutaneous Lipomatosis, Endocrine system disease, Endometrial carcinoma, Endometrial neoplasm, Eosinophilia, Ependymoma, Epidermolysis bullosa, Epilepsy, Epithelial ovarian carcinoma, Esophageal squamous cell carcinoma, Ewing sarcoma, Extra-Adrenal Pheochromocytoma, Eye abnormalities, Eye disease, Facial dysmorphism syndrome, Fibrillary Astrocytoma, Fibroadenoma, Fibrosarcoma, Fragile X Syndrome, Frontal bossing, Ganglioglioma, Gastrointestinal disease, Gastrointestinal hemorrhage, Gastrointestinal stromal tumor, Gemistocytic Astrocytoma, Giant Cell Glioblastoma, Glaucoma, Gliosarcoma, Grade I Astrocytoma, Granulomatosis with polyangiitis, Graves ophthalmopathy, Growth disorder, Hairy cell leukemia, Hearing loss, Heart disease, Heart Diseases, Hemangiosarcoma, Hematuria, Hepatoblastoma, Hepatocellular carcinoma, Hereditary Cancer Syndrome, Hereditary Hemochromatosis, Hereditary Paraganglioma-Pheochromocytoma Syndromes, Hereditary Pheochromocytoma-Paraganglioma, Hydrocephalus, Hydronephrosis, Hydrophthalmos, Hyperkinesia, Hyperlipidemia, Hyperparathyroidism, Hyperplasia, Hypersensitivity, Hypertension, Hypertrophic cardiomyopathy, Hypertrophy, Hypoxia, Iga nephropathy, Impaired Cognition, Inclusion Body Myopathy With Paget Disease And Frontotemporal Dementia, Infantile spasms, Inflammatory bowel disease, Insulinoma, Interleukin 2 receptor deficiency, Intestinal disease, Intestinal neoplasm, Intracranial Aneurysm, Intracranial Astrocytoma, Intraductal noninfiltrating carcinoma, Ischemic stroke, Isolated systolic hypertension, Kidney disease, Kidney Neoplasm, Knee osteoarthritis, Language development disorders, Learning Disorders, Left Ventricular Hypertrophy, Leigh Syndrome, LEOPARD Syndrome, Leukemia, Li-Fraumeni Syndrome, Liver disease, Liver failure, Lobular carcinoma, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung disease, Lung neoplasms, Lupus Erythematosus, Lupus Vulgaris, Lymphatic metastasis, Lymphoblastic Leukemia, Lymphoma, Lynch syndrome, Macrocephaly, Major depressive disorder, Male breast neoplasms, Malignant Neoplasm, Malignant Peripheral Nerve Sheath Tumor, Malocclusion, Marfan Syndrome, Medullary thyroid cancer, Megalencephaly Cutis Marmorata Telangiectatica Congenita, Melanocytic nevus, Memory disorders, Meningioma, Mental retardation, Merkel cell carcinoma, Mesothelioma, Microcephaly, Micrognathism, Microphthalmos, Microvascular angina, Mid Aortic Syndrome, Monocytic Leukemia, Motor neuron disease, Motor skills disorder, Mouth disease, Mouth neoplasm, Moyamoya Disease, Multiple Congenital Anomalies, Multiple Endocrine Neoplasia, Multiple intestinal atresia, Multiple polyposis syndrome, Multiple sclerosis, Myeloblastic Leukemia, Myelodysplastic Syndrome, Myeloid Leukemia, Myelomonocytic Leukemia, Myeloproliferative disorder, Myotonic dystrophy, Nasopharyngeal carcinoma, Neck Webbing, Neoplasms, Nerve Sheath Tumors, Nervous system disease, Nervous System Neoplasms, Neurilemmoma, Neuroblastoma, Neurocutaneous Syndromes, Neurodegenerative disorder, Neuroectodermal Tumors, Neurofibroma, Neurofibroma Of Subcutaneous Tissue, Neurofibromatosis-Noonan Syndrome, Neurofibrosarcoma, Neuropathy, NF1 Microdeletion Syndrome, Noonan Syndrome, Obesity, Oligoastrocytoma, Oligodendroglioma, Optic Nerve Glioma, Oral submucous fibrosis, Orofaciodigital syndrome, Osteoarthritis Of Hip, Osteofibrous Dysplasia, Osteogenesis imperfecta, Osteomalacia, Osteoporosis, Osteosarcoma, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Ovarian serous adenocarcinoma, Pancreatic ductal carcinoma, Papillary Adenoma, Papillary Craniopharyngioma, Paraganglioma, Paraparesis, Parathyroid Adenoma, Parathyroid neoplasm, Patent foramen ovale, Perineurioma, Peripheral arterial disease, Peripheral Nerve Sheath Neoplasm, Pituitary Diseases, Pituitary dwarfism, Pituitary neoplasm, Plexiform neurofibroma, Polycystic kidney disease, Polycythemia vera, Posteriorly Rotated Ear, Promyelocytic leukemia, Prostatic neoplasm, Proteinuria, Protoplasmic Astrocytoma, Psoriasis, Ptosis, Pulmonary arterial hypertension, Pulmonary hypertension, Pulmonary Stenosis, Renal cell carcinoma, Renovascular hypertension, Retinal vasculopathy with cerebral leukodystrophy, Retinoblastoma, Rhabdomyosarcoma, Salivary gland neoplasms, Schizophrenia, Schwannomatosis, Scoliosis, Secundum atrial septal defect, Senile Dementia, Skin disease, Small cell lung carcinoma, Soft Tissue Neoplasms, Solitary fibrous tumor, Somatotroph Adenoma, Spastic paraplegia, Specific Learning Disorder, Spinal Cord Neoplasms, Spinal neurofibromas, Status epilepticus, Stomach Carcinoma, Stomach Neoplasms, Stroke, Sturge-Weber Syndrome, Symmetric spinal nerve root neurofibromas, Syndromic Mental Retardation, X-linked, Systemic mastocytosis, T-Cell Lymphoma, Tarsal-Carpal Coalition Syndrome, Terminal osseous dysplasia with pigmentary defects, Thrombocytosis, Thyroid cancer, Transitional cell carcinoma, Triple negative breast cancer, Tuberous Sclerosis, TUMOR PREDISPOSITION SYNDROME, Tumors Of Adrenal Cortex, Turcot syndrome, Turner syndrome, Ulcerative colitis, Urinary bladder diseases, Urogenital Abnormalities, Uveal Melanoma, Vascular disease, Vascular Diseases, Vasculitis, Visual disorder, Vitamin d deficiency, Von Hippel-Lindau Syndrome, Waardenburg syndrome, Woodhouse Sakati Syndrome, Xanthoma
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