|
511
|
|
|
TAP binding protein |
MHC1D3, NGS17, TAPA, TPN, TPSN |
|
|
512
|
|
|
Threonyl-tRNA synthetase 1 |
TARS, TTD7, ThrRS |
|
|
513
|
|
|
Tyrosine aminotransferase |
- |
|
|
514
|
|
|
T-box transcription factor 1 |
CAFS, CATCH22, CTHM, DGCR, DGS, DORV, TBX1C, TGA, VCF, VCFS |
22q11 deletion syndrome, 22q11 partial monosomy syndrome, 22q11.2 deletion syndrome, 22q11.2 duplication syndrome, Acne, Acrocephaly, Anxiety disorder, Aortic coarctation, Arachnodactyly, Arrhinencephaly, Arthritis, Asthma, Asymmetric crying face association, Atrial septal defect, Atrioventricular septal defect, Attention deficit hyperactivity disorder, Autism, Bipolar disorder, Blepharophimosis, Bowel incontinence, Brachydactyly, Camptodactyly of fingers, Cataract, Choanal atresia, Cholelithiasis, Chronic obstructive pulmonary disease, Colorectal cancer, Congenital clubfoot, Congenital epicanthus, Congenital exomphalos, Congenital heart defects, Congenital hypoplasia of thymus, Congenital malrotation of intestine, Conotruncal anomaly face syndrome, Conotruncal heart defect, Corneal neovascularization, Cryptorchidism, Developmental delay, Digeorge syndrome, Dolichocephaly, Double outlet right ventricle, Dwarfism, Dysmorphic features, Dysphasia, Esophoria, Esotropia, Exotropia, Gastroesophageal reflux disease, Glaucoma, Hearing loss, Hernia, femoral, High palate, Hirschsprung disease, Hydrocephalus, Hydronephrosis, Hyperthyroidism, Hypoparathyroidism, Hypoplastic left heart syndrome, Hypospadias, Hypothyroidism, Immunologic deficiency syndromes, Imperforate anus, Interrupted aortic arch, Laryngomalacia, Major affective disorder, Mental depression, Mental retardation, Microcephaly, Micrognathism, Microphthalmos, Microstomia, Mood disorder, Mood swings, Multiple renal cysts, Myelomeningocele, Nonorganic psychosis, Obesity, Obsessive-compulsive disorder, Optic atrophy, Otitis media, Sclerocystic ovaries, Paranoia, Parathyroid agenesis, Parathyroid hypoplasia, Patent ductus arteriosus, Persistent truncus arteriosus, Pierre-robin syndrome, Platybasia, Polycystic kidney disease, Polycystic ovary syndrome, Polydactyly, Polydactyly of toes, Posterior embryotoxon, Proptosis, Prostate cancer, Psychosis, Ptosis, Pulmonary dysgenesis, Renal aplasia, Renal dysplasia, Renal hypoplasia, Schizophrenia, Sclerocornea, Scoliosis, Seborrheic dermatitis, Severe combined immunodeficiency disease, Shprintzen syndrome, Specific learning disorder, Speech disorders, Stereotyped behavior, Strabismus, Tetralogy of fallot, Transposition of great vessels, Tricuspid atresia, Uterine anomalies, Velopharyngeal insufficiency, Ventricular septal defect, Vesicoureteral reflux, Vulval varicesView all (104 more) |
|
515
|
|
|
Tafazzin, phospholipid-lysophospholipid transacylase |
BTHS, CMD3A, EFE, EFE2, G4.5, LVNCX, TAZ, Taz1 |
|
|
516
|
|
|
Tubulin folding cofactor A |
- |
|
|
517
|
|
|
Tubulin folding cofactor D |
PEBAT, SSD-1, tfcD |
Arthrogryposis multiplex congenita, Asthma, Bowel incontinence, Brainstem atrophy, Cataplexy, Cerebellar atrophy, Cerebral cortical atrophy, Clonic seizures, Developmental dysplasia of the hip, Congenital microcephaly, Congenital pectus carinatum, Congenital pectus excavatum, Cortical dysplasia, Degenerative diseases, central nervous system, Development disorder, Developmental delay, Developmental regression, Diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Dysphagia, Encephalopathy with brain atrophy and thin corpus callosum, Epileptic encephalopathy, Febrile seizures, Hypoplasia of corpus callosum, Hypotonic seizures, Mental retardation, Jacksonian seizure, Macrotia, Malformation of cortical development, Microcephaly, Micrognathism, Microlissencephaly, Neurodegenerative disorders, Neurogenic urinary bladder, Optic atrophy, Plagiocephaly, Quadriplegia, Respiratory failure, Scoliosis, Seizure, Spastic quadriplegia, Stereotyped behavior, West syndromeView all (27 more) |
|
518
|
|
|
Tubulin folding cofactor E |
HRD, KCS, KCS1, PEAMO, pac2 |
Anarthria speech disorder, Anemia, Astigmatism, Cerebellar atrophy, Congenital hypoparathyroidism, Congenital hypoplasia of penis, Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, Cryptorchidism, Defect of skull ossification, Developmental delay, Developmental regression, Distal amyotrophy, Dwarfism, Dysarthria, Dysmorphic features, Encephalopathy, with amyotrophy and optic atrophy, Encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome, Epileptic encephalopathy, Frontal bossing, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany, Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoplasia of corpus callosum, Intestinal obstruction, Isolated somatotropin deficiency, Kenny-caffey syndrome, Mental retardation, Microcephaly, Micrognathism, Multiple congenital anomalies, Myopathy, Obesity, Optic atrophy, Osteosclerosis, Penis agenesis, Peripheral axonal neuropathy, Posteriorly rotated ear, Scoliosis, Somatotropin deficiency, Spastic ataxia, Spastic quadriplegia, Spastic tetraparesis, Spinal muscular atrophy, Stenosis of the medullary cavity of the long bonesView all (30 more) |
|
519
|
|
|
Transducin beta like 1 X-linked |
CHNG8, EBI, SMAP55, TBL1 |
|
|
520
|
|
|
TATA-box binding protein |
GTF2D, GTF2D1, HDL4, SCA17, TBP1, TFIID |
Apraxia, Blepharospasm, Brainstem atrophy, Cerebellar atrophy, Dementia, Dementia of frontal lobe, Dysarthria, Dysphagia, Dyssomnia, Hallucinations, Mental depression, Mohr-tranebjaerg syndrome, Nystagmus, Paranoia, Parkinson disease, Schizophrenia, Sleep disorders, Spinocerebellar ataxia, Writer`s crampView all (4 more) |
