|
451
|
|
|
Malic enzyme 2 |
ODS1 |
|
|
452
|
|
|
Methyl-CpG binding protein 2 |
AUTSX3, MRX16, MRX79, MRXS13, MRXSL, PPMX, RS, RTS, RTT |
Acquired kyphoscoliosis, Alveolitis, Angelman syndrome, Anorexia, Anxiety disorder, Apraxia, Arnold-chiari malformation, Arthrogryposis multiplex congenita, Astigmatism, Attention deficit hyperactivity disorder, Autism, Autism spectrum disorder, Behavioral abnormality, Bilateral fetal pyelectasis, Bipolar disorder, Blepharophimosis, Brachycephaly, Bulbar palsy, Camptodactyly of fingers, Cerebellar atrophy, Cerebral cortical atrophy, Cerebral palsy, Choreoathetosis, Clonic seizures, Congenital epicanthus, Congenital kyphoscoliosis, Congenital pectus excavatum, Congestive heart failure, Cryptorchidism, Dementia, Demyelinating neuropathy, Development disorder, Developmental delay, Developmental regression, Diabetes mellitus, Dwarfism, Dysmorphic features, Dysphagia, Dysphasia, Dyssomnia, Encephalopathy, Encephalopathy with microcephaly, Epilepsy, Epileptic encephalopathy, Esotropia, Facial paralysis, Gait apraxia, Gastroesophageal reflux disease, Neurosensory hearing impairment, Hemiplegia/hemiparesis, Hernia of abdominal wall, High palate, Horizontal pendular nystagmus, Hypospadias, Hypotonic seizures, Impaired cognition, Mental retardation, Intellectual disability-psychosis-macroorchidism syndrome, x-linked, Jacksonian seizure, Laryngomalacia, Learning disorders, Liver carcinoma, Lupus erythematosus, Macrocephaly, Macrostomia, Macrotia, Major affective disorder, Meckel diverticulum, Mental depression, Mental retardation with psychosis, pyramidal signs, and macroorchidism, Mental retardation, x-linked, Microcephaly, Micrognathism, Microstomia, Movement disorders, Myopia, Hypotonia, Nephrolithiasis, Neurodevelopmental disorders, Non-syndromic intellectual disability, x-linked, Obesity, Osteopenia, Parkinson disease, Polymicrogyria, Psychomotor disorders, Psychosis, Ptosis, Pulmonary fibrosis, Quadriplegia, Repetitive compulsive behavior, Respiratory failure, Rett syndrome, Rett syndrome, zappella variant, Rheumatoid arthritis, Schizophrenia, Scoliosis, Seizure, Sleep apnea, Sleep disorders, Spastic quadriplegia, Spastic tetraparesis, Speech disorders, Stenosis of external auditory canal, Stereotyped behavior, Stereotypy, Strabismus, Stroke, Syndactyly of the toes, Syndromic mental retardation, x-linked, Systemic lupus erythematosus, Thyroiditis, Trisomy xq28, Vertical nystagmusView all (98 more) |
|
453
|
|
|
Myocyte enhancer factor 2A |
ADCAD1, RSRFC4, RSRFC9, mef2 |
|
|
454
|
|
|
Myocyte enhancer factor 2C |
C5DELq14.3, DEL5q14.3, NEDHSIL |
5q14.3 microdeletion syndrome, Aphasia, Attention deficit hyperactivity disorder, Autism spectrum disorder, Autism, Cerebellar vermis agenesis, Dysmorphic features, Epilepsy, Frontotemporal dementia, Grand mal status epilepticus, Hypoplasia of corpus callosum, Hypoplasia of the optic nerve, Mental retardation, Motor delay, Movement disorders, Multiple congenital anomalies, Neurodevelopmental disorders, Nonconvulsive status epilepticus, Petit mal status, Schizophrenia, Status epilepticus, Stereotyped behavior, Strabismus, Syndactyly of the toesView all (9 more) |
|
455
|
|
|
Myocyte enhancer factor 2D |
- |
|
|
456
|
|
|
MEFV innate immunity regulator, pyrin |
FMF, MEF, PAAND, TRIM20 |
Acne, Amyloid nephropathy, Ankylosing spondylitis, Anorexia, Aortic valve insufficiency, Aphthous ulcer, Arthritis, Autism, Autoinflammatory disease, Behcet syndrome, Brachydactyly, Cataract, Cranial nerve paralysis, Cryptorchidism, Developmental delay, Developmental regression, Dysmorphic features, Encephalitis, Endocarditis, Erysipelas, Gangrene, Hidradenitis suppurativa, Intermittent hydrarthrosis, Intermittent joint effusion, Intestinal obstruction, Keratoconjunctivitis sicca, Kidney disease, Leukoplakia, Liver failure, Malabsorption syndrome, Migraine, Myocardial infarction, Myositis, Nephrocalcinosis, Nephrotic syndrome, Oral ulcer, Pancreatitis, Pericarditis, Periodic syndrome, Pleural effusion, Pleuritis, Polyarthritis, Psoriatic arthritis, Pyoderma gangrenosum, Renal glomerular disease, Renal insufficiency, Retinal diseases, Retrobulbar neuritis, Sweet syndrome, Synophrys, VasculitisView all (36 more) |
|
457
|
|
|
Meis homeobox 1 |
- |
|
|
458
|
|
|
Meis homeobox 2 |
CPCMR, HsT18361, MRG1 |
15q14 deletion syndrome, Acne, Aortic coarctation, Atrial septal defect, Autism, Cardiac defects, Cleft palate, cardiac defects, and mental retardation, Congenital heart defects, Developmental delay, Dwarfism, Gastroesophageal reflux disease, Immunologic deficiency syndromes, Laryngomalacia, Mental retardation, Microcephaly, Oral cleft, Scoliosis, Syndactyly of the toes, Ventricular septal defectView all (4 more) |
|
459
|
|
|
Mitogen-activated protein kinase kinase kinase 1 |
MAPKKK1, MEKK, MEKK 1, MEKK1, SRXY6 |
46, xy complete gonadal dysgenesis, 46, xy partial gonadal dysgenesis, 46, xy sex reversal, Ambiguous genitalia, Azoospermia, Breast cancer, Mammary neoplasms, Breast carcinoma, Cryptorchidism, Dysgerminoma, Gonadal dysgenesis, Gonadoblastoma, Gynecomastia, Hypertrophy of clitoris, Hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of vagina, Hypospadias, Male pseudohermaphroditism, Marfan syndrome, Nephroblastoma, Nephrotic syndrome, Osteoporosis, Ovarian neoplasm, Ovarian gonadoblastoma, Penis agenesis, Physiologic amenorrhea, Polycystic ovary syndrome, Prostatic neoplasms, Prostate cancer, Streak ovary, Swyer syndrome, Testicular dysgenesis, Testicular gonadoblastoma, Testicular regression syndromeView all (20 more) |
|
460
|
|
|
Mitogen-activated protein kinase kinase kinase 3 |
CCM5, MAPKKK3, MEKK3 |
|
