190994
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Twist family bHLH transcription factor 1 |
ACS3, BPES2, BPES3, CRS, CRS1, CSO, SCS, SWCOS, TWIST, bHLHa38 |
Curated: Androgenetic alopecia, Asthma, Atherosclerosis, Atrial fibrillation, Brachycephaly, Cardiovascular disease, Central nervous system cancer, Cerebrovascular disorder, Ischemic heart disease, Obstructive pulmonary disease, Colorectal cancer, Coronal craniosynostosis, Coronary artery disease, Craniosynostosis, Desbuquois syndrome, Glioblastoma, Glioma, Large artery stroke, Major depressive disorder, Moyamoya disease, Myocardial infarction, Myocardial ischemia, Obesity, Peripheral arterial disease, Peripheral vascular disease, Robinow syndrome, Saethre-chotzen syndrome, Stomach neoplasms, Stroke, Sweeney-cox syndrome, Vascular disease, TWIST1-related craniosynostosis
Unreviewed: Ablepharon, Acrocephalopolydactyly, Acrocephaly, Acromegaly, Adenocarcinoma, Adenocarcinoma Of Colon, Adenoid cystic carcinoma, Adenoma, Adrenal Gland Pheochromocytoma, Adrenocortical adenoma, Adrenocortical carcinoma, Agenesis Of Corpus Callosum, Allergic rhinitis, Alopecia, Alpha 1-Antitrypsin Deficiency, Anaplastic Lymphoma, Anaplastic thyroid cancer, Anemia With Ringed Sideroblasts, Angina pectoris, Anophthalmia, Anxiety Disorder, Aortic Aneurysm, Aortic disease, Aortic valve disease, Aortic Valve Insufficiency, Apert Syndrome, Apert-Crouzon Disease, Aplasia Cutis Congenita, Arteriosclerosis, Arthritis, Asplenia, Astigmatism, Astrocytoma, Ataxia, Atrichia With Papular Lesions, Attention Deficit Hyperactivity Disorder, Aural Atresia, Congenital, Autism, Autism Spectrum Disorder, Baller-Gerold Syndrome, Barrett esophagus, Basal cell carcinoma, Benign Prostatic Hyperplasia, Bladder carcinoma, Bladder Neoplasm, Blepharospasm, Bone disease, Bone neoplasm, Brachydactyly, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Calcinosis, Camptodactyly of fingers, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Cardiomyopathy, Carotid artery disease, Carotid artery stenosis, Cerebellar Hypoplasia, Cerebral amyloid angiopathy, Cerebral microangiopathy, Cervical Cancer, Cervical Intraepithelial Neoplasia, Cervical Tumor, Cervix carcinoma, Choanal Atresia, Cholangiocarcinoma, Choroid Plexus Papilloma, Chromophobe Carcinoma, Chromosomal instability, Chronic Obstructive Pulmonary Disease, Colitis, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal adenoma, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Complete Hydatidiform Mole, Congenital abnormalities, Congenital adrenal hyperplasia, Congenital anomaly of limb, Congenital Chromosomal Disease, Congenital Contractural Arachnodactyly, Congenital diaphragmatic hernia, Congenital Epicanthus, Congenital heart defects, Congestive Heart Failure, Conn Adenoma, Contiguous gene syndrome, Corneal astigmatism, Craniofacial dysostosis, Crohn Disease, Cryptorchidism, Cushing`s Syndrome, Cystic Fibrosis, Dermatitis, Desmoplastic Tumor, Development Disorder, Developmental Delay, Developmental disability, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 1, Diabetic Nephropathy, Diabetic neuropathy, Dolichocephaly, Down Syndrome, Duchenne muscular dystrophy, Ductal carcinoma, Ductal carcinoma of breast, Dwarfism, Dysmorphic Features, Eczema, Endometrial Cancer, Endometrial carcinoma, Endometrial hyperplasia, Endometrial neoplasm, Endometrioid cancer, Endometrioid carcinoma, Endometriosis, Eosinophilia, Ependymoma, Epileptic encephalopathy, Epithelial ovarian carcinoma, Esophageal Carcinoma, Esophageal neoplasm, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Ewing sarcoma, Facial dysmorphism, Fibroadenoma, Fibromatosis, Fragile X Syndrome, Frontal bossing, Frontonasal Dysplasia, Gastric Cancer, Gastroesophageal Reflux Disease, Gastrointestinal stromal tumor, Giant cell tumor of bone, Glaucoma, congenital, Gliosarcoma, Graft-Vs-Host Disease, Head and neck cancer, Head And Neck Carcinoma, Head and neck neoplasm, Hearing Loss, Heart Failure, Heart valve disease, Hemangioblastoma, Hematuria, Hepatitis c, Hepatocellular carcinoma, Hereditary breast and ovarian cancer syndrome, High palate, Holoprosencephaly, Huntington Disease, Hydatidiform Mole, Hyperinsulinism, Hyperlipidemia, Hypersensitivity, Hypertension, Hypoplasia of the maxilla, Hypoxia, Idiopathic pulmonary fibrosis, Ileus, Imperforate anus, Infantile Spasms, Insulin-Like Growth Factor I Deficiency, Intracranial Aneurysm, Intraductal noninfiltrating carcinoma, Invasive Duct and Lobular Carcinoma, Ischemic stroke, Keratoconus, Kidney Disease, Kidney Failure, Knee osteoarthritis, Large cell carcinoma, Learning Disorders, Leukemia, Leukocyte adhesion deficiency, Lip and Oral Cavity Carcinoma, Liver Cancer, Liver carcinoma, Liver Fibrosis, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung disease, Lung Diseases, Lung Neoplasms, Lymphatic metastasis, Lymphoma, Macrocephaly, Male breast neoplasms, Malignant Neoplasm, Malignant neoplasm of mouth, Malignant Peripheral Nerve Sheath Tumor, Malnutrition, Mammary Neoplasms, Mastocytosis, Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome, Melanoma, Mental Depression, Mental retardation, Merkel cell carcinoma, Mesothelioma, Metabolic Diseases, Metastatic Melanoma, Metastatic Prostate Carcinoma, Metopic synostosis, Microcephaly, Micrognathism, Microstomia, Microtia, Migraine, MILES-CARPENTER X-Linked MENTAL RETARDATION SYNDROME, Mucinous Adenocarcinoma, Mucoepidermoid Carcinoma, Muenke syndrome, Mycosis fungoides, Myelodysplastic Syndrome, Myeloid Leukemia, Nasal polyposis, Nasopharyngeal Carcinoma, Neoplasms, Nervous System Disorder, Neuroblastoma, Neurofibrosarcoma, Neurogenic Urinary Bladder, Nodular Fasciitis, Oestrogen Receptor Positive Breast Cancer, Optic Atrophy, Oral submucous fibrosis, Osteoarthritis, Osteoarthritis Of Hip, Osteoporosis, Osteosarcoma, Ovarian cancer, Ovarian Carcinoma, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pancreatic Neoplasm, Pancreatitis, Papillary thyroid cancer, Papillary thyroid carcinoma, Paraganglioma, Parietal Foramina, Patent ductus arteriosus, Periodontitis, Peritoneal Carcinomatosis, Peritoneal mesothelioma, Pfeiffer Syndrome, Pheochromocytoma, Phyllodes Tumor, Plagiocephaly, Pleomorphic adenoma of salivary gland, Polydactyly, Prader-Willi Syndrome, Promyelocytic Leukemia, Proptosis, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Pterygium, Ptosis, Pulmonary arterial hypertension, Pulmonary Fibrosis, Pulmonary Hypertension, Radial Aplasia, Radioulnar Synostosis, Renal Carcinoma, Renal cell carcinoma, Renal fibrosis, Rheumatoid arthritis, Rhinosinusitis With Nasal Polyps, Robinow-Sorauf syndrome, Rubinstein-Taybi Syndrome, Saethre-Chotzen Syndrome, Saethre-Chotzen Syndrome with Eyelid Anomalies, Sagittal craniosynostosis, Salivary gland disease, Salivary gland neoplasms, Sarcoidosis, Sarcoma, Scaphocephaly, Scleroderma, Sclerosing cholangitis, Scoliosis, Sezary Syndrome, Short clavicles, Sick sinus syndrome, Sinusitis, Skin cancer, Skin disease, Skin neoplasm, Sleep Apnea, Small cell carcinoma, Small cell lung carcinoma, Spherocytosis, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Strabismus, SWEENEY-COX SYNDROME, Syndactyly, Syndactyly of fingers, Syndactyly Of The Toes, Syndromic microphthalmia, Synostotic Anterior Plagiocephaly, Synostotic Posterior Plagiocephaly, Systemic mastocytosis, Systemic sclerosis, Thyroid cancer, Thyroid Carcinoma, Thyroid Neoplasm, Thyroiditis, Tongue carcinoma, Tourette syndrome, Trichohepatoenteric Syndrome, Trigonocephaly, Triple negative breast cancer, Triple Negative Breast Neoplasms, Ulcerative colitis, Uranostaphyloschisis, Urinary bladder cancer, Urinary bladder neoplasms, Urothelial Carcinoma, Uterine disease, Uterine neoplasm, Uveal melanoma, Venous malformation, Ventricular septal defect, West Syndrome
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190995
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Twist family bHLH transcription factor 2 |
AMS, BBRSAY, DERMO1, FFDD3, SETLSS, bHLHa39 |
Curated: Ablepharon macrostomia syndrome, Alzheimer disease, Androgenetic alopecia, Barber-say syndrome, Congenital ectodermal dysplasia of face, Dry eye syndrome, Focal facial dermal dysplasia, Peptic ulcer disease, Sjogren syndrome
Unreviewed: Ablepharon, Absent eyebrow, Agenesis Of Corpus Callosum, Alopecia, Ambiguous Genitalia, Anaplasia, Aplasia Cutis Congenita, Barber Say Syndrome, Bipolar Disorder, Breast aplasia, Breast Cancer, Breast Carcinoma, Breast hypoplasia, Breast neoplasm, Cafe-au-lait spot, Carcinoma, Carcinoma Of The Head And Neck, Cervical Cancer, Cervical Intraepithelial Neoplasia, Cervical Tumor, Cervix carcinoma, Cholangiocarcinoma, Colorectal Cancer, Colorectal neoplasm, Congenital Absent Nipple, Congenital Ectodermal Dysplasia Of Face, Congenital Epicanthus, Congenital Exomphalos, Congenital Hypoplasia Of Penis, Congenital omphalocele, Corneal erosion, Cryptophthalmos, Developmental Delay, Developmental disability, Diabetic Ketoacidosis, Ductal carcinoma, Ductal carcinoma of breast, Dwarfism, Dysmorphic Features, Ectodermal Dysplasia, Ectropion, Endometrial neoplasm, Erectile Dysfunction, Fatty Liver, Focal Facial Dermal Dysplasia, Hepatocellular carcinoma, Hereditary Hemochromatosis, High altitude pulmonary edema, HYPERTRICHOSIS, Hypoplasia Of Nipple, Hypoplasia of the maxilla, Hypoxia, Imperforate anus, Kidney Cancer, Kidney Failure, Leukemia, Liver carcinoma, Lung Cancer, Lung carcinoma, Lymphatic Metastasis, Lymphoblastic Leukemia, Lymphocytic Leukemia, Macrostomia, Malignant Neoplasm, Malocclusion, Mental retardation, Microdontia, Microtia, Monocytic Leukemia, Mouth Abnormalities, Multiple Congenital Anomalies, Myeloblastic Leukemia, Myopia, Neoplasms, Non-Alcoholic Fatty Liver Disease, Obesity, Oculodentodigital dysplasia, Osteosarcoma, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic cancer, Pancreatic carcinoma, Pancreatic neoplasm, Peyronie Disease, Progeria, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Renal Carcinoma, Renal cell carcinoma, Renal fibrosis, Retinitis Pigmentosa, Rhabdomyosarcoma, Seizures, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Strabismus, SWEENEY-COX SYNDROME, Syndactyly Of The Toes, T-Cell Lymphoma, Thyroid cancer, Tongue carcinoma, Tuberous Sclerosis, Urinary bladder neoplasms, Uterine neoplasm
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190996
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Twinkle mtDNA helicase |
ATXN8, C10orf2, IOSCA, MTDPS7, PEO, PEO1, PEOA3, PRLTS5, SANDO, SCA8, TWINL |
Curated: Auditory neuropathy, Progressive external ophthalmoplegia, Cerebellar ataxia, Ptosis, Atrioventricular block, Mitochondrial dna depletion syndrome, Major depressive disorder, Dysphonia, Gonadal dysgenesis, Mitochondrial disease, Mitochondrial hepatopathy, Perrault syndrome, Nonsyndromic hearing loss, Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, Hereditary spastic paraplegia, Xx gonadal dysgenesis syndrome, perrault syndrome 5
Unreviewed: 46, xx gonadal dysgenesis, Achalasia, Alpers Syndrome, Anxiety Disorder, Ataxia, Ataxia neuropathy spectrum disorder, Atrial Fibrillation, Atrophy, Auditory Neuropathy, Bipolar Disorder, Brain stem neoplasms, Brainstem Atrophy, Cardiomyopathy, Cataract, Central Visual Impairment, Cerebellar Ataxia, Cerebellar atrophy, Cerebellar Diseases, Cerebral Atrophy, Cerebral cortical atrophy, Congenital Pes Cavus, Deafness, Dementia, Dentatorubral Pallidoluysian Atrophy, Developmental Delay, Diabetes Mellitus, Dysarthria, Dyskinetic Syndrome, Dysphagia, Epilepsia Partialis Continua, Epilepsy, Epileptic encephalopathy, Episodic Ataxia, Epithelial ovarian carcinoma, External Ophthalmoplegia, Fragile X Syndrome, Friedreich Ataxia, Gallbladder cancer, Gastroesophageal Reflux Disease, Gastroparesis, Gonadal Dysgenesis, Headache, Hearing Loss, Hepatic Encephalopathy, Hereditary Leber Optic Atrophy, Huntington Disease-Like, Hyperthyroidism, Hypogonadism, Hypothyroidism, Impaired Cognition, Inclusion Body Myositis, Intellectual developmental disorder, Intestinal Pseudoobstruction, Kearns Sayre Syndrome, Ketosis, Left Ventricular Hypertrophy, Machado-Joseph Disease, Major Affective Disorder, Malignant Neoplasm, Mammary Neoplasms, MELAS Syndrome, Mental Depression, Mental retardation, Migraine, Mitochondrial Diseases, Mitochondrial DNA Depletion Syndrome, hepatocerebral, Mitochondrial encephalomyopathy, Mitochondrial encephalopathy, Mitochondrial myopathy, Motor nerve neuritis, Multiple Sclerosis, Myasthenia Gravis, Myasthenic syndrome, Myoclonic epilepsy with ragged red fibers, Myopathy, Neoplasms, Nephrocalcinosis, Neurodegenerative Disorders, Neuromuscular dysphagia, Neuropathy, Nocturia, Nonorganic Psychosis, Nystagmus, Ophthalmoplegia, Optic Atrophy, Osteoporosis, Ovarian adenocarcinoma, Ovarian cancer, Ovarian Carcinoma, Ovarian Epithelial carcinoma, Ovarian neoplasm, Paraparesis, Parkinson disease, Peripheral axonal neuropathy, Peripheral nervous system disease, Perrault Syndrome, Physiologic Amenorrhea, Polyneuropathy, Premature aging, Progressive External Ophthalmoplegia, Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Psychosis, Renal Carcinoma, Retinitis Pigmentosa, Secondary parkinson disease, Sensorineural hearing loss, Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome, Sensory neuropathy, Skin Erosion, Specific Learning Disorder, Spinocerebellar Ataxia, Status Epilepticus, Thrombotic Microangiopathies, Tremor, Upgaze palsy, Ventricular arrhythmia, Visceral neuropathy
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190997
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Twisted gastrulation BMP signaling modulator 1 |
TSG |
Curated: Esophageal squamous cell carcinoma, Holoprosencephaly
Unreviewed: Alobar Holoprosencephaly, Arrhinencephaly, Autoimmune disease, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Carcinoma, Cervix carcinoma, Cirrhosis, Colorectal Cancer, Colorectal neoplasm, Diastrophic dysplasia, Endometrial neoplasm, Esophagus Neoplasm, Graft-versus-host disease, Hepatocellular carcinoma, Jaw Abnormalities, Li-Fraumeni Syndrome, Liver carcinoma, Liver Cirrhosis, Lobar Holoprosencephaly, Lung Cancer, Lung carcinoma, Lung neoplasms, Lymphocytic Leukemia, Malignant Neoplasm, Mammary Neoplasms, Medulloblastoma, Mesothelioma, Microtia, Nasopharyngeal Cancer, Nasopharyngeal carcinoma, Neoplasms, Neuroblastoma, Ovarian neoplasm, Papillary Renal Carcinoma, Papillary thyroid carcinoma, Pituitary neoplasm, Prostatic neoplasm, Renal cell carcinoma, Semilobar Holoprosencephaly, Severe combined immunodeficiency disease, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Triple negative breast cancer, Turner syndrome, Urinary bladder neoplasms, Uterine neoplasm
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190999
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TXK tyrosine kinase |
BTKL, PSCTK5, PTK4, RLK, TKL |
Curated: Breast cancer, Multiple sclerosis
Unreviewed: Adenoid cystic carcinoma, Alzheimer disease, Ataxia telangiectasia, Atopic dermatitis, Atrioventricular block, Behcet disease, Behcet Syndrome, Biliary tract neoplasms, Bone disease, Brain neoplasms, Breast neoplasm, Bruton type agammaglobulinemia, Carcinogenesis, Cardiovascular disease, Central nervous system disease, Cholangiocarcinoma, Chronic disease, Cockayne syndrome, Colonic neoplasm, Colonic polyps, Colorectal neoplasm, Corneal injury, Cough, Crohn disease, Cystic fibrosis, Dementia, Dermatologic Disorders, Diabetes mellitus, Diabetes mellitus, type 2, Endometrial neoplasm, Eosinophilia, Esophageal squamous cell carcinoma, Essential thrombocythemia, Frontotemporal dementia, Gallbladder neoplasm, Gastroesophageal reflux disease, Gastrointestinal stromal tumor, Glioblastoma, Glioma, Head and neck neoplasm, Hemangiosarcoma, Hematologic disease, Hemorrhage, Hepatocellular carcinoma, Hodgkin disease, Hypereosinophilic syndrome, Hypertrophy, Hypogonadotropic hypogonadism, Hypoxia, Idiopathic pulmonary fibrosis, Inflammatory Bowel Disease, Kallmann syndrome, Kidney neoplasm, Leukemia, Lewy body disease, Liposarcoma, Liver cirrhosis, Lung neoplasms, Lymphedema, Lymphoma, Mast cell leukemia, Mastocytosis, Medullary thyroid cancer, Medulloblastoma, Melanoma, Mesothelioma, Mucoepidermoid carcinoma, Multiple myeloma, Myelodysplastic syndrome, Myeloid leukemia, Myeloproliferative disorder, Nervous system disease, Neuroblastoma, Neurofibrosarcoma, Ovarian neoplasm, Pancreatic neoplasm, Papillary thyroid cancer, Peritonitis, Pheochromocytoma, Platelet disorder, Polycythemia vera, Prostatic neoplasm, Psoriasis, Pulmonary fibrosis, Renal cell carcinoma, Respiratory system infectious disease, Rhabdomyosarcoma, Rheumatoid arthritis, Sarcoidosis, Sarcoma, Scleroderma, Severe combined immunodeficiency, Severe congenital neutropenia, Sickle cell anemia, Skin disease, Small cell lung carcinoma, Squamous cell carcinoma, Stomach neoplasms, Systemic mastocytosis, Thrombocytopenia, Thyroid cancer, Thyroiditis, Triple negative breast cancer, Tyrosine kinase 2 deficiency, Ulcerative colitis, Urinary bladder neoplasms, Uterine neoplasm, Vascular disease
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