|
311
|
|
|
Lysine demethylase 4A |
JHDM3A, JMJD2, JMJD2A, TDRD14A |
|
|
312
|
|
|
Lysine methyltransferase 2B |
CXXC10, DYT28, HRX2, MLL1B, MLL2, MLL4, MRD68, TRX2, WBP-7, WBP7 |
Anarthria speech disorder, Choreoathetosis, Dysarthria, Dysgraphia, Dyskinesia, Dysphagia, Dystonia, Focal dystonia, High palate, Laryngeal dystonia, Liver carcinoma, Micrognathism, Movement disorders, Precocious puberty, Pycnodysostosis, Retinal lattice degeneration, Retrocollis, Scoliosis, Sinus tachycardia, Sinusitis, Writer`s crampView all (6 more) |
|
313
|
|
|
KIAA0513 |
- |
|
|
314
|
|
|
KIAA0586 |
JBTS23, SRTD14, Talpid3 |
Absence of septum pellucidum, Accessory nipple, Anencephaly, Asphyxiating thoracic dystrophy, Atrial septal defect, Brachydactyly, Cerebellar hypoplasia, Cerebellar vermis agenesis, Colpocephaly, Congenital cerebral hernia, Congenital coloboma of iris, Congenital diaphragmatic hernia, Congenital epicanthus, Pulmonary hypoplasia, Congenital meningocele, Dandy-walker syndrome, Developmental delay, Dextrocardia, Diastrophic dysplasia, Duane retraction syndrome, Frontal bossing, Fundus coloboma, Gastroesophageal reflux disease, Hirschsprung disease, Hydrocephalus, Hypospadias, Jeune thoracic dystrophy, Joubert syndrome, Joubert syndrome with jeune asphyxiating thoracic dystrophy, Keratosis follicularis, Lung diseases, Majewski syndrome, Meckel-gruber syndrome, Mental retardation, Micrognathism, Micromelia, Mohr-tranebjaerg syndrome, Myopia, Nystagmus, Occipital encephalocele, Oculomotor apraxia, Oculovestibuloauditory syndrome, Oral cleft, Penis agenesis, Pericardial effusion, Polycystic kidney disease, Polydactyly, Polydactyly of toes, Polymicrogyria, Ptosis, Radial polydactyly, Renal dysplasia, Renal insufficiency, Retinal coloboma, Retinal dystrophy, Rod-cone dystrophy, Scoliosis, Short rib-polydactyly syndrome, Short-rib thoracic dysplasia with or without polydactyly, Situs inversus, Strabismus, Thoracic hypoplasiaView all (47 more) |
|
315
|
|
|
Kelch like ECH associated protein 1 |
INrf2, KLHL19 |
Alveolar rhabdomyosarcoma, Ankylosing spondylitis, Biliary cirrhosis, Breast cancer, Carcinoma, Cerebellar medulloblastoma, Cholangitis, Cholestasis, Chromophobe carcinoma, Crohn disease, Euthyroid goiter, Functional gastrointestinal disorders, Neoplasm of gallbladder, Gallbladder cancer, Gastrointestinal diseases, Hypothyroidism, Keratoma, Keratosis, Keratosis blennorrhagica, Lung carcinoma, Lung adenocarcinoma, Medulloepithelioma, Multinodular goiter, Ovarian neoplasm, Papillary renal carcinoma, Pilomatrixoma, Pleuropulmonary blastoma, Polyp of large intestine, Prostatic neoplasms, Prostate cancer, Psoriasis, Renal carcinoma, Biliary cholangitis, Seminoma, Sertoli cell neoplasm, Thyroid carcinoma, Ulcerative colitisView all (22 more) |
|
316
|
|
|
KIAA0753 |
JBTS38, MNR, OFIP, SRTD21 |
Agenesis of corpus callosum, Brachydactyly, Cerebellar vermis agenesis, Clinodactyly, Congenital epicanthus, Congenital heart defects, Cryptorchidism, Developmental delay, Dwarfism, Esotropia, Frontal bossing, Hearing loss, High palate, Hydronephrosis, Hypothalamic hamartomas, Jeune thoracic dystrophy, Malformation of cortical development, Mental retardation, Micrognathism, Nystagmus, Orofaciodigital syndrome, Polydactyly, Polydactyly of toes, Radial polydactyly, Renal agenesis, Syndactyly, Thoracic hypoplasiaView all (12 more) |
|
317
|
|
|
KIAA0319 |
DYLX2, DYX2, NMIG |
|
|
318
|
|
|
Kelch repeat and BTB domain containing 11 |
KLHDC7C |
|
|
319
|
|
|
Kinesin family member 14 |
MCPH20, MKS12 |
Agenesis of corpus callosum, Arthrogryposis multiplex congenita, Attention deficit hyperactivity disorder, Cerebellar hypoplasia, Developmental delay, Dwarfism, Hypoplasia of the optic nerve, Mental retardation, Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, Liver carcinoma, Meckel syndrome, Microcephaly, Microphthalmos, Neuronal heterotopia, Pachygyria, Renal agenesis, Renal aplasia, Renal hypoplasia, Strabismus, Vertical talus, Vesicoureteral refluxView all (6 more) |
|
320
|
|
|
Potassium voltage-gated channel subfamily E regulatory subunit 2 |
ATFB4, LQT5, LQT6, MIRP1 |
|
