|
191
|
|
|
Mitochondrially encoded 12S RNA |
MTRNR1 |
Deafness, Dwarfism, Hearing loss, Impaired cognition, Merrf syndrome, Movement disorders, Multiple lipomata, Myoclonic seizures, Myopathy, Optic atrophy, Pulsatile tinnitus |
|
192
|
|
|
Arginine-glutamic acid dipeptide repeats |
ARG, ARP, ATN1L, DNB1, NEDBEH |
1p36 deletion syndrome, Agenesis of corpus callosum, Allergic rhinitis, Aneurysm of aortic arch, Annular pancreas, Arthritis, Asthma, Atrial septal defect, Attention deficit hyperactivity disorder, Autism, Bipolar disorder, Brachycephaly, Brachydactyly, Camptodactyly of fingers, Cardiomyopathy, Cardiovascular diseases, Cataract, Cerebral cortical atrophy, Chronic obstructive pulmonary disease, Congenital anomaly of neck, Congenital epicanthus, Rib fusion, Congenital hypoplasia of penis, Cranial nerve paralysis, Cryptorchidism, Development disorder, Developmental delay, Dwarfism, Dysphagia, Eczema, Fatty liver, Frontal bossing, Gastroesophageal reflux disease, Hearing loss, Heart septal defects, Hemiplegia/hemiparesis, Hydronephrosis, Hypogonadism, Hypoplasia of corpus callosum, Hypospadias, Hypothyroidism, Juvenile arthritis, Macrotia, Mental depression, Mental retardation, Microcephaly, Microstomia, Microtia, Mood disorder, Myopathy, Neuroblastoma, Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, Neurodevelopmental disorders, Nystagmus, Obesity, Ocular albinism, Optic atrophy, Patent ductus arteriosus, Seronegative polyarthritis, Polyarthritis, rheumatoid factor positive, Polydactyly of toes, Renal cyst, Respiratory tract diseases, Schizophrenia, Scoliosis, Stereotyped behavior, Still disease, Strabismus, Tetralogy of fallot, VitiligoView all (55 more) |
|
193
|
|
|
Ribosomal protein L10a |
CSA19, Csa-19, L10A, NEDD6, uL1 |
|
|
194
|
|
|
Receptor tyrosine kinase like orphan receptor 1 |
NTRKR1, dJ537F10.1 |
Bipolar disorder, Breast cancer, Mammary neoplasms, Breast carcinoma, Colorectal cancer, Congenital coloboma of iris, Congenital sensorineural hearing loss, Deafness, Leukemia, Marfan syndrome, Metastatic melanoma, Non-syndromic sensorineural deafness, Nonsyndromic deafness, Ovarian adenocarcinoma, Renal carcinoma |
|
195
|
|
|
Receptor tyrosine kinase like orphan receptor 2 |
BDB, BDB1, NTRKR2 |
Abnormal spinal segmentation, Accessory kidney, Alopecia, Ankyloglossia, Anonychia, Arthrogryposis multiplex congenita, Atrial septal defect, Brachydactyly, Camptodactyly of fingers, Clinodactyly, Colorectal cancer, Absent uvula, Congenital camptodactyly, Congenital epicanthus, Congenital exomphalos, Rib fusion, Congenital hypoplasia of penis, Congenital pectus carinatum, Congenital pectus excavatum, Cryptorchidism, Developmental delay, Dwarfism, Ectopic anus, Fingernail dysplasia, Frontal bossing, Hydronephrosis, Hypodontia, Macrocephaly, Macroglossia, Macrostomia, Mental retardation, Mesomelia, Micrognathism, Multicystic renal dysplasia, Oral cleft, Otitis media, Penis agenesis, Phakomatosis pigmentovascularis, Posteriorly rotated ear, Proptosis, Ptosis, Robinow syndrome, Robinow syndrome, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals, Robinow syndrome, with brachy-syn-polydactyly, Scoliosis, Strabismus, Syndactyly, Syndactyly of fingers, Syndactyly of the toes, Tetralogy of fallot, Thoracic hemivertebra, Thoracolumbar scoliosis, Ventricular septal defectView all (38 more) |
|
196
|
|
|
Ribonucleotide reductase regulatory TP53 inducible subunit M2B |
MTDPS8A, MTDPS8B, P53R2, RCDFRD |
Anemia, Anxiety disorder, Atrial fibrillation, Bipolar disorder, Camptocormia, Cardiomyopathy, Cataract, Central visual impairment, Cerebellar atrophy, External ophthalmoplegia with mitochondrial myopathy, Cirrhosis, Complete atrioventricular block, Small intestinal dysmotility, Dementia, Demyelinating neuropathy, Diabetes mellitus, Dysarthria, Dysphagia, Esotropia, External ophthalmoplegia, Gastroesophageal reflux disease, Gastroparesis, Hearing loss, Hemiplegia/hemiparesis, High palate, Hyperthyroidism, Hypogonadism, Hypogonadotropic hypogonadism, Hypopituitarism, Hypothyroidism, Impaired cognition, Kearns sayre syndrome, Ketosis, Kidney disease, Left ventricular hypertrophy, Leukoencephalopathy, Luft disease, Major affective disorder, Megaconial myopathies, Mental depression, Mental retardation, Migraine, Mitochondrial diseases, Mitochondrial dna depletion syndrome, Mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy, Mitochondrial myopathy, Mitochondrial neurogastrointestinal encephalomyopathy, Myopathy, Hypotonia, Nocturia, Osteoporosis, Peripheral axonal neuropathy, Pleoconial myopathy, Progressive external ophthalmoplegia, Progressive external ophthalmoplegia with mitochondrial dna deletions, Ptosis, Retinitis pigmentosa, Scoliosis, Sensorimotor neuropathy, Status epilepticus, Ventricular arrhythmia, Visceral myopathyView all (47 more) |
|
197
|
|
|
Retinol dehydrogenase 11 |
ARSDR1, CGI82, HCBP12, MDT1, PSDR1, RALR1, RDJCSS, SCALD, SDR7C1 |
|
|
198
|
|
|
Ring finger protein, LIM domain interacting |
MRX61, NY-REN-43, RNF12, TOKAS |
Anxiety disorder, Autism, Brachydactyly, Cryptorchidism, Developmental delay, Dwarfism, Dysphagia, Hypospadias, Mental retardation, Mental retardation, x-linked, Microcephaly, Micrognathism, Microstomia, Penile hypospadias, Penis agenesis, Prostatic neoplasms, Prostate cancer, Syndromic mental retardation, Velopharyngeal insufficiencyView all (4 more) |
|
199
|
|
|
Receptor accessory protein 2 |
C5orf19, SGC32445, SPG72, SPG72A, SPG72B, Yip2d |
|
|
200
|
|
|
Arginine and serine rich coiled-coil 1 |
BM-011, MRT70, SFRS21, SRrp53 |
Absence of septum pellucidum, Anxiety disorder, Attention deficit hyperactivity disorder, Autism, Central visual impairment, Cerebral atrophy, Chronic obstructive pulmonary disease, Cortical dysplasia, Developmental delay, Dyskinetic syndrome, Dyssomnia, Febrile seizures, Hypoplasia of corpus callosum, Mental retardation, Mental depression, Microcephaly, Motor delay, Neuroblastoma, Non-syndromic intellectual disability, Polymicrogyria, Salaam seizures, Seizure, Sleep disorders, Stereotyped behaviorView all (9 more) |
