3281
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Tubulin beta 3 class III |
CDCBM, CDCBM1, CFEOM3, CFEOM3A, FEOM3, TUBB4, beta-4 |
Curated: Autism, Basal cell carcinoma, Breast neoplasms, Complex cortical dysplasia with other brain malformations, Congenital brain malformation, Congenital fibrosis of extraocular muscles, Congenital hypoplasia of part of brain, Cortical dysgenesis with pontocerebellar hypoplasia, Cortical dysplasia with other brain malformations, Developmental disability, Hydranencephaly, Lissencephaly, Macrogyria, Male infertility single gene azoospermia, Martsolf syndrome, Microgyria, Neurodevelopmental disorder, Obsessive-compulsive disorder, Ovarian neoplasms, Spastic ataxia, Tubulinopathy, X-linked hydrocephalus syndrome, TUBB3-related tubulinopathy
Unreviewed: Acquired Kyphoscoliosis, Adenocarcinoma, Agenesis Of Corpus Callosum, Anaplasia, Astrocytoma, Basal ganglia disease, Benign Neoplasm, Bladder carcinoma, Bladder Neoplasm, Blepharoptosis, Brain disease, Brain injuries, Brain malformation, Brain Neoplasms, Brain stem neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinoma, Cerebellar diseases, Cerebellar Hypoplasia, Chondrosarcoma, Cobblestone Lissencephaly, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Congenital abnormalities, Congenital Epicanthus, Congenital kyphoscoliosis, Congenital Microcephaly, Contracture, Cortical development malformation, Cortical Dysgenesis With Pontocerebellar Hypoplasia, Cortical Dysplasia, Cortical Dysplasia With Other Brain Malformations, Cubitus valgus, Demyelinating diseases, Developmental Delay, Down Syndrome, Duane retraction syndrome, Dysarthria, Dysautonomia, Dysgenesis of the hippocampus, Dystonia, Endocrine system disease, Ependymoma, Epilepsy, Epithelial ovarian carcinoma, Esophageal Cancer, Esophageal Carcinoma, Esophageal neoplasm, Esophagus Neoplasm, Esotropia, Ewing sarcoma, Exotropia, External Ophthalmoplegia, Extraskeletal Myxoid Chondrosarcoma, Facial dysmorphism, Facial dysmorphism syndrome, Facial nerve disorder, Facial paralysis, Fibrosis Of Extraocular Muscles, Focal Seizures, Glioblastoma, Glioma, Growth disorder, Headache, High palate, Hydrocephalus, Hyperopia, Hyperplasia, Hypoglycemia, Hypogonadism, Hypogonadotropic Hypogonadism, Hypoplasia Of Corpus Callosum, Hypoplasia of the olfactory bulb, Hypoplasia Of The Optic Nerve, Hypoxia, Idiopathic pulmonary fibrosis, Impaired Cognition, Intellectual developmental disorder, Kallmann Syndrome, Large cell carcinoma, Laryngeal dystonia, Lateral Meningocele Syndrome, Leiomyosarcoma, Limb-Mammary Syndrome, Liver neoplasms, Lung Cancer, Lung carcinoma, Lung Neoplasms, Lymphatic metastasis, Lymphoma, Macrocephaly, Macular corneal dystrophy, Malformation of cortical development, Malignant gastrointestinal tract tumors, Malignant Neoplasm, Malignant Neoplasm Of Oropharynx, Mammary Neoplasms, Mantle Cell Lymphoma, Marfan Syndrome, Medulloblastoma, Melanoma, Mental retardation, Microcephaly, Micrognathism, Mobius Syndrome, Mood swings, Multiple Congenital Anomalies, Nasopharyngeal carcinoma, Neoplasms, Nervous System Diseases, Nervous System Disorder, Neuroblastoma, Neuroectodermal Tumors, Neurofibrosarcoma, Nystagmus, Oculomotor apraxia, Oculovestibuloauditory Syndrome, Oligodendroglioma, Ophthalmoplegia, Oropharyngeal Carcinoma, Oropharyngeal neoplasm, Osteoarthritis, Osteoporosis, Ovarian cancer, Ovarian diseases, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic neoplasm, Papillary thyroid cancer, Partial Agenesis Of Corpus Callosum, Peripheral axonal neuropathy, Peripheral nervous system disease, Peripheral Neuropathy, Peritoneal Carcinoma, Pica, Plagiocephaly, Polymicrogyria, Polyneuropathy, Pontocerebellar hypoplasia, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Ptosis, Renal Carcinoma, Renal cell carcinoma, Restrictive cardiomyopathy, Restrictive External Opthalmoplegia, Sarcoma, Schizophrenia, Sensorineural hearing loss, Social Communication Disorder, Spastic Ataxia, Spastic diplegia, Spastic Quadriplegia, Squamous cell carcinoma, Stereotyped Behavior, Stomach Carcinoma, Stomach Neoplasms, Strabismus, Thymic Carcinoma, Tooth abnormalities, Tubulinopathy-Associated Dysgyria, Urinary bladder cancer, Urinary bladder neoplasms, Uterine neoplasm, Uveal melanoma, Vocal Cord Paralysis
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3284
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Tubulin beta 4A class IVa |
DYT4, TUBB4, beta-5 |
Curated: Cerebellar atrophy, Auditory neuropathy, Brown tendon sheath syndrome, Cerebral palsy, Congenital neurologic anomalies, Dystonia, Dystonia musculorum deformans, Frontotemporal dementia, Genetic torsion dystonia, Global developmental delay, Hypomyelinating leukodystrophy, Torsion dystonia, Whispering dysphonia, TUBB4A-related neurologic disorder
Unreviewed: Acquired Kyphoscoliosis, Anodontia, Atrophy, Basal ganglia disease, Blepharospasm, Brain disease, Cerebellar diseases, Chorea, Choreoathetosis, Congenital kyphoscoliosis, Cortical Dysplasia, Dementia, Demyelinating diseases, Developmental Delay, Developmental disability, Developmental regression, Dwarfism, Dysarthria, Dysphagia, Dysphonia, Epileptic encephalopathy, Glioblastoma, Henoch-Schonlein Nephritis, Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum, Impaired Cognition, Intellectual developmental disorder, Isovaleryl-CoA dehydrogenase deficiency, Laryngeal dystonia, Laryngitis, Leukodystrophy, Leukoencephalopathy, Malformation of cortical development, Melanoma, Mental Depression, Mental Disorders, Mental retardation, Metachromatic leukodystrophy, Microcephaly, Motor delay, Movement disorder, Movement Disorders, Nervous system disease, Nervous System Disorder, Neuroblastoma, Neurodegenerative Disorders, Nystagmus, Optic Atrophy, Pelizaeus-Merzbacher disease, Polymicrogyria, Prostatic neoplasm, Psychiatric disorders, Spastic paraplegia, Spastic Quadriplegia, Specific Learning Disorder, Squamous cell carcinoma, Tetraparesis
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3286
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Tubulin beta 4B class IVb |
Beta2, LCAEOD, TUBB2, TUBB2C |
Curated: Leber congenital amaurosis, Retinitis pigmentosa, TUBB4B-related ciliopathy
Unreviewed: Asthma, Brain injuries, Breast Cancer, Breast Carcinoma, Carcinoma Of The Head And Neck, Cardiomyopathy, Cerebellar hypoplasia, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Deafness, Dermatitis, Diabetes, Diabetes Mellitus, Dysequilibrium syndrome, Eczema, Hearing loss, Hematologic Neoplasms, Huntington Disease, Infertility, Leukoplakia, Lung carcinoma, Lymphocytic Leukemia, Malignant Neoplasm, Neoplasms, Neuroblastoma, Neuropathy, Ovarian serous adenocarcinoma, Prostate cancer, Prostatic neoplasm, Retinal detachment, Squamous cell carcinoma, Ulcerative colitis, Usher syndrome
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