187911
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T-box brain transcription factor 1 |
AUTS5, IDDAS, TBR-1, TES-56 |
Curated: Attention deficit hyperactivity disorder, Autism, Neurodevelopmental disorder, Cortical dysplasia, Cortical occipital malformations, Developmental delay with language impairment and movement disorder, Focal cortical dysplasia, Intellectual developmental disorder autism speech, Intellectual developmental disorder speech autism dysmorphic, Intellectual developmental disorder, Non-specific syndromic intellectual disability, Complex neurodevelopmental disorder, Abnormal cortical gyration
Unreviewed: 2q24 microdeletion syndrome, Antisocial personality disorder, Apraxia, Autism spectrum disorder, Cataract, Congenital abnormalities, Congenital ocular coloboma, Cortical Dysplasia, Cortical Occipital Malformations, Developmental Delay, Developmental disability, Frontotemporal dementia, Glioblastoma, Hypoplastic hippocampus, Hypotonia, Intellectual Developmental Disorder With Autism And Speech Delay, Language development disorders, Medulloblastoma, Mental retardation, Microcephaly, Microphthalmos, Multiple sclerosis, Neurodevelopmental Disorders, Occipital Pachygyria And Polymicrogyria, Pachygyria, Renal cell carcinoma, Schizophrenia, Sleep Apnea, Social Communication Disorder, Stereotyped Behavior, Syndactyly Of The Toes, Temporal lobe epilepsy
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187914
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T-box transcription factor 1 |
CAFS, CATCH22, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCF, VCFS |
Curated: 22q11.2 deletion syndrome, Breast cancer, Basal cell carcinoma, Chromosome 22q11.2 microduplication syndrome, Obstructive pulmonary disease, Color vision deficiency, Combined immunodeficiency, Common arterial trunk with aortic dominance, Common arterial trunk with pulmonary dominance and interrupted aortic arch, Congenital heart disease, Conotruncal anomaly face syndrome, Conotruncal cardiac defect, Craniofacial abnormalities, Digeorge syndrome, Epilepsy, Congenital heart defects, Hypoplastic left heart syndrome, Mood disorder, Nasal polyp, Non-organic psychosis, Polycystic ovary syndrome, Prostate cancer, Psychotic disorders, Rheumatoid arthritis, Schizophrenia, Scoliosis, Hearing loss, Shprintzen-goldberg syndrome, Tetralogy of fallot, Velocardiofacial syndrome, Ventricular septal defect, T-b+ severe combined immunodeficiency, Conotruncal heart malformations
Unreviewed: 22q11 deletion syndrome, 22q11 partial monosomy syndrome, 22q11.2 duplication syndrome, 3C syndrome, Acne, Acrocephaly, Adenocarcinoma, Adenoid cystic carcinoma, Adenoma, Agenesis Of Corpus Callosum, Alagille Syndrome, Anaplasia, Anemia, Anhedonia, Antithrombin Deficiency, Anxiety Disorder, Aortic Coarctation, Aphthous Ulcer, Aplasia Cutis Congenita, Arachnodactyly, Arrhinencephaly, Arthritis, Asthma, Asymmetric crying face association, Atrial Septal Defect, Atrioventricular septal defect, Atrophy, Attention Deficit Hyperactivity Disorder, Autism, Autism spectrum disorder, Behavior Disorders, beta Thalassemia, Bipolar Disorder, Blepharophimosis, Bone neoplasm, Bone neoplasms, Bowel incontinence, Brachydactyly, Breast Cancer, Breast Carcinoma, Breast neoplasm, C9 Deficiency, Camptodactyly, Camptodactyly of fingers, Carcinoma, Cardiac Defects, Cardiovascular Abnormalities, Cat Eye Syndrome, Cataract, Caudal regression sequence, Celiac disease, Choanal Atresia, Cholelithiasis, Chondrosarcoma, Chordoma, Chronic Obstructive Pulmonary Disease, Cleft lip, Cleft palate, Cleidocranial Dysplasia, Colorectal Cancer, Colorectal neoplasm, Complete Atrioventricular Canal Defect, Congenital Chromosomal Disease, Congenital Clubfoot, Congenital diaphragmatic hernia, Congenital Epicanthus, Congenital Exomphalos, Congenital heart defect, Congenital Heart Disease, Congenital Hypoplasia Of Thymus, Congenital malrotation of intestine, Congenital microtia, Conotruncal Anomaly Face Syndrome, Conotruncal defect, Conotruncal heart defect, Contiguous gene syndrome, Corneal Neovascularization, Coronary Heart Disease, Cryptorchidism, Deafness, Developmental Delay, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 2, Diabetic Nephropathy, DiGeorge Syndrome, Dolichocephaly, Double Outlet Right Ventricle, Down Syndrome, Dwarfism, Dysmorphic Features, Dysphasia, Ear Diseases, Ehlers-Danlos Syndrome, Embryonal carcinoma, Epidermolysa Bullosa Simplex And Limb Girdle Muscular Dystrophy, Esophoria, Esotropia, Exotropia, Facial dysmorphism, Fanconi Anemia, Folic Acid Deficiency, Friedreich Ataxia, Gastroesophageal Reflux Disease, Glaucoma, Glioblastoma, Glioma, Glomerulosclerosis, Goldenhar syndrome, Graves disease, Hashimoto Disease, Hearing Loss, Hernia, Femoral, High palate, Hirschsprung Disease, Hodgkin disease, Holt-Oram Syndrome, Hydrocephalus, Hydronephrosis, Hyperglycemia, Hyperlipoproteinemia, Hypertension, Hyperthyroidism, Hypocalcemia, Hypoparathyroidism, Hypophosphatemic Rickets, Hypoplastic Left Heart Syndrome, Hypospadias, Hypothyroidism, Immunologic Deficiency Syndromes, Imperforate anus, Inguinal Hernia, Interrupted aortic arch, Kenny-Caffey Syndrome, Kidney Failure, Knee osteoarthritis, Laryngeal neoplasm, Laryngomalacia, Larynx cancer, Learning Disorders, LEPTIN DEFICIENCY OR DYSFUNCTION, Lesch-Nyhan Syndrome, Leukemia, Liver carcinoma, Lung Cancer, Lung carcinoma, Lung Neoplasms, Lymphatic metastasis, Major Affective Disorder, Malignant Neoplasm, Mammary Neoplasms, Meckel Syndrome, Melanoma, Mental Depression, Mental Disorders, Mental retardation, Microcephaly, Microdontia, Microglossia, Micrognathism, Microphthalmos, Microstomia, Mood Disorder, Mood swings, Motor delay, Mouth neoplasm, Multiple renal cysts, Myeloid leukemia, Myelomeningocele, Neoplasms, Neural Tube Defect, Neuroblastoma, Neurofibromatosis, Nonorganic Psychosis, Obesity, Obsessive-Compulsive Disorder, Optic Atrophy, Orofacial cleft, Otitis media, Papillary thyroid carcinoma, Paranoia, Parathyroid agenesis, Parathyroid hypoplasia, Parathyroid neoplasm, Parathyroid Neoplasms, Patent ductus arteriosus, Periodontitis, Persistent truncus arteriosus, Pfaundler-Hurler Syndrome, Phenylketonuria, Pierre-Robin Syndrome, Platybasia, Polycystic kidney disease, Polycystic Ovary Syndrome, Polydactyly, Polydactyly Of Toes, Polyglandular autoimmune syndrome, Posterior embryotoxon, Precocious Pubarche, Proptosis, Prostatic neoplasm, Protein C Deficiency, Psychosis, Ptosis, Pulmonary arterial hypertension, Pulmonary dysgenesis, Renal aplasia, Renal cell carcinoma, Renal dysplasia, Renal fibrosis, Renal hypoplasia, Retinoblastoma, Sacral Agenesis, Schizoaffective Disorder, Sclerocornea, Sclerocystic Ovaries, Scleroderma, Seborrheic dermatitis, Seminoma, Severe combined immunodeficiency disease, Shprintzen Syndrome, Shprintzen-Goldberg Syndrome, Situs ambiguus, Situs Inversus, Skin Neoplasms, Small cell carcinoma, Small cell lung carcinoma, Specific Learning Disorder, Speech Disorders, Spondylocostal dysostosis, Squamous cell carcinoma, Stereotyped Behavior, Strabismus, Stroke, Teratoid Rhabdoid Tumor, Testicular Germ Cell Tumor, Tetralogy of Fallot, Thrombasthenia, Thyroid cancer, Thyroid Carcinoma, Thyroid Neoplasm, Transposition Of Great Vessels, Trichohepatoenteric Syndrome, Tricuspid Atresia, Triple negative breast cancer, Triple Negative Breast Neoplasms, Tumor, Ulnar-Mammary Syndrome, Uranostaphyloschisis, Urinary bladder neoplasms, Uterine Anomalies, Uterine neoplasm, Velopharyngeal Insufficiency, Vesicoureteral Reflux, Vitamin D-Dependent Rickets, von Willebrand disorder, Vulval varices, Zellweger Syndrome
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187916
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T-box transcription factor 15 |
TBX14 |
Curated: Androgenetic alopecia, Breast cancer, Chagas cardiomyopathy, Cousin syndrome, Craniofacial abnormalities, Desbuquois syndrome, Growth disorder, Obstructive sleep apnea syndrome, Osteoarthritis, Pelviscapular dysplasia, Craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature (cousin syndrome)
Unreviewed: Alopecia, Alopecia, Male Pattern, Ambiguous Genitalia, Androgenetic Alopecia, Blepharophimosis, Brachydactyly, Breast neoplasm, Camptodactyly of fingers, Carcinogenesis, Colorectal neoplasm, Congenital Camptodactyly, Congenital Clubfoot, Cystic fibrosis, Developmental dysplasia of the hip, Dislocated radial head, Dwarfism, Elbow flexion contracture, Esophageal neoplasm, Flexion Contracture Of Wrist, Frontal bossing, Glioma, Hydranencephaly, Hydrocephalus, Hydronephrosis, Lung neoplasms, Macrocephaly, Malignant Neoplasm, Mesomelia, Microcornea, Microglossia, Micrognathism, Microphthalmos, Neoplasms, Obesity, Osteoporosis, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic neoplasm, Pelviscapular Dysplasia, Pituitary neoplasm, Prostate cancer, Prostatic neoplasm, Ramer Ladda Syndrome, Renal cell carcinoma, Rhizomelia, Short femur, Stenosis Of External Auditory Canal, Strabismus, Syndactyly Of The Toes, Thyroid cancer, Thyroid Carcinoma, Thyroid Neoplasm
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187917
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T-box transcription factor 18 |
CAKUT2, PUJO |
Curated: Androgenetic alopecia, Anophthalmia, Breast cancer, Congenital anomalies of the kidney and urinary tract, Cardiac embolism, Cardioembolic stroke, Carpal tunnel syndrome, Central nervous system cancer, Kidney disease, Renal agenesis, Glioblastoma, Glioma, Hypertension, Immune system disease, Myasthenia gravis, Osteoarthritis, Scoliosis
Unreviewed: Arteriosclerosis, Atherosclerosis, Complete Atrioventricular Block, Congenital heart defect, Congenital heart defects, Congenital megaureter, Coronary Heart Disease, Hydronephrosis, Kidney Disease, Multicystic renal dysplasia, Neoplasms, Nephrolithiasis, Nephrotic Syndrome, Osteosarcoma, Renal dysplasia, Renal hypoplasia, Sarcoma Of Kidney, Sick Sinus Syndrome, Urolithiasis, Ventricular Fibrillation, Ventricular septal defect
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187920
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T-box transcription factor 2 |
VETD |
Curated: Atrial septal defect, Ischemic heart disease, Congenital septal defect of heart, Coronary artery disease, Hypertension, Metabolic syndrome, Myocardial ischemia, Nephrolithiasis, Neuroblastoma, Osteoarthritis, Vertebral anomalies with endocrine and t-cell dysfunction, Hearing loss
Unreviewed: Adrenocortical carcinoma, Alveolar capillary dysplasia, Alzheimer disease, Aplasia of the thymus, Astrocytoma, Atrial Septal Defect, Atrioventricular septal defect, Autism, Bladder carcinoma, Bladder Neoplasm, Brachycephaly, Breast Cancer, Breast Carcinoma, Breast neoplasm, Cleft palate, Colorectal Cancer, Colorectal neoplasm, Congenital anomaly of eye, Congenital Camptodactyly, Congenital diaphragmatic hernia, Congenital Epicanthus, Congenital heart defects, Congenital Heart Disease, Congenital ocular coloboma, Congenital Pectus Carinatum, Conotruncal cardiac defect, Conotruncal defect, Coronary Heart Disease, Development Disorder, Developmental Delay, Double Outlet Right Ventricle, Dwarfism, Ectopic Pupil, Endocrine system disease, Endometrial neoplasm, Esophageal squamous cell carcinoma, Glabellar hemangioma, Glioblastoma, Hashimoto Disease, Hepatocellular carcinoma, Hodgkin disease, Hypoparathyroidism, Immune system disease, Inguinal Hernia, Isolated Somatotropin Deficiency, Kidney Failure, Klippel Feil syndrome, Liver carcinoma, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung neoplasms, Malignant Neoplasm, Mammary Neoplasms, Melanoma, Metastatic Prostate Carcinoma, Nasopharyngeal Cancer, Nasopharyngeal carcinoma, Neck Webbing, Neoplasms, Osteochondrodysplasias, Osteosarcoma, Ovarian serous adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic neoplasm, Patent ductus arteriosus, Persistent truncus arteriosus, Prostate cancer, Prostatic neoplasm, Pulmonary arterial hypertension, Pulmonary hypoplasia, Pulmonary Stenosis, Renal cell carcinoma, Rhabdomyosarcoma, Rib fusion, Scoliosis, Somatotropin Deficiency, Spondylocostal dysostosis, Sprengel Deformity, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Thyroiditis, Urinary bladder cancer, Urinary bladder neoplasms, Uterine disease, Ventricular preexcitation, Ventricular septal defect, Vertebral anomalies and variable endocrine and T-cell dysfunction, Wolff-Parkinson-White Syndrome
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