|
211
|
|
|
Norrin cystine knot growth factor NDP |
EVR2, FEVR, ND |
Anxiety disorder, Attention deficit hyperactivity disorder, Autism, Cataract, Cerebral cortical atrophy, Chamber synechiae, Coats disease, Congenital retinal fold, Cryptorchidism, Cystoid macular edema, Dementia, Developmental regression, Diabetes mellitus, Disorder of eye, Dyssomnia, Ectopia lentis, Exudative retinopathy, Exudative vitreoretinopathy, Eye neoplasms, Glaucoma, Hallucinations, Hearing loss, Hypoplasia of iris, Macrotia, Macular edema, Microcephaly, Microphthalmos, Migraine, Myopia, Neuroretinitis, Norrie disease, Nystagmus, Optic atrophy, Persistent hyperplastic primary vitreous, Postoperative cataract syndrome, Psychosis, Retinal detachment, Retinal dysplasia, Retinitis, Retinopathy, Schizophrenia, Sclerocornea, Scoliosis, Sleep disorders, Stereotyped behavior, Strabismus, Vascular neoplasm, Venous insufficiencyView all (33 more) |
|
212
|
|
|
NADH:ubiquinone oxidoreductase subunit A1 |
CI-MWFE, MC1DN12, MWFE, ZNF183 |
Choreoathetosis, Colorectal cancer, Developmental delay, Diabetes mellitus, Epileptic encephalopathy, Hearing loss, Hypertrophic cardiomyopathy, Hypoglycemia, Isolated complex i deficiency, Leigh syndrome, Leukodystrophy, Leukoencephalopathy, Microcephaly, Mitochondrial complex deficiency, Mitochondrial diseases, Mitochondrial myopathy, Myoclonic seizures, Necrotizing encephalomyelopathy, Nystagmus, Ptosis, StrabismusView all (6 more) |
|
213
|
|
|
NADH:ubiquinone oxidoreductase subunit A2 |
B8, CD14, CIB8, MC1DN13 |
Anemia, Breast cancer, Cerebellar ataxia, Cerebral atrophy, Cystic leukoencephalopathy without megalencephaly, Developmental delay, Dysarthria, Gastric cancer, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoplasia of corpus callosum, Mental retardation, Leigh syndrome, Leigh syndrome with leukodystrophy, Leukodystrophy, Leukoencephalopathy, cystic, without megalencephaly, Mitochondrial complex deficiency, Mitochondrial diseases, Mood swings, Necrotizing encephalomyelopathy, Nervous system diseases, Nystagmus, Optic atrophy, Ptosis, Retinitis pigmentosa, Stomach neoplasms, Strabismus, Ventricular septal defectView all (13 more) |
|
214
|
|
|
NADH:ubiquinone oxidoreductase subunit A3 |
B9, CI-B9 |
|
|
215
|
|
|
NADH:ubiquinone oxidoreductase subunit A5 |
B13, CI-13KD-B, CI-13kB, NUFM, UQOR13 |
|
|
216
|
|
|
NADH:ubiquinone oxidoreductase subunit A6 |
B14, CI-B14, LYRM6, MC1DN33, NADHB14 |
Cerebellar hypoplasia, Developmental delay, Diabetes mellitus, Dysphagia, Epileptic encephalopathy, Hearing loss, Hypertrophic cardiomyopathy, Hypoglycemia, Isolated complex i deficiency, Leukodystrophy, Leukoencephalopathy, Microcephaly, Mitochondrial complex deficiency, Mitochondrial diseases, Mitochondrial myopathy, Nystagmus, Ptosis, StrabismusView all (3 more) |
|
217
|
|
|
NADH:ubiquinone oxidoreductase subunit A8 |
CI-19KD, CI-PGIV, MC1DN37, PGIV |
|
|
218
|
|
|
Nebulin |
AMC6, NEB177D, NEM2 |
Arthrogryposis multiplex congenita, Bulbar palsy, Cardiomyopathy, Pulmonary hypoplasia, Congenital myopathy, Congenital nemaline myopathy, Congenital pectus excavatum, Distal nebulin myopathy, Dysmorphic features, Dysphagia, Facial paralysis, High palate, Hydrops fetalis, Hypospadias, Lethal multiple pterygium syndrome, Limb muscle atrophy, Lung carcinoma, Micrognathism, Motor delay, Multiple congenital anomalies, Multiple pterygium syndrome, Muscular dystrophy, Myopathy, Nemaline myopathy, Hypotonia, Neuromuscular dysphagia, Pena shokeir syndrome, Penis agenesis, Ptosis, Respiratory failure, Scoliosis, Sternocleidomastoid amyotrophy, TalipesView all (18 more) |
|
219
|
|
|
NADH:ubiquinone oxidoreductase subunit A9 |
CC6, CI-39k, CI39k, COQ11, MC1DN26, NDUFS2L, SDR22E1 |
Anemia, Cerebellar ataxia, Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, Developmental delay, Distal amyotrophy, Dysarthria, Dysphagia, Hypertrichosis, Hypertrophic cardiomyopathy, Mental retardation, Leigh syndrome, Leigh syndrome with leukodystrophy, Leukodystrophy, Mitochondrial complex deficiency, Mood swings, Necrotizing encephalomyelopathy, Nervous system diseases, Nystagmus, Optic atrophy, Ptosis, Retinitis pigmentosa, Rod-cone dystrophy, Strabismus, Ventricular septal defectView all (11 more) |
|
220
|
|
|
NADH:ubiquinone oxidoreductase subunit A10 |
CI-42KD, CI-42k, MC1DN22 |
Anemia, Cerebellar ataxia, Developmental delay, Dysarthria, Hypertrichosis, Hypertrophic cardiomyopathy, Mental retardation, Leigh syndrome, Leigh syndrome with leukodystrophy, Leukodystrophy, Mitochondrial complex deficiency, Mitochondrial diseases, Mood swings, Necrotizing encephalomyelopathy, Nervous system diseases, Nystagmus, Optic atrophy, Ptosis, Retinitis pigmentosa, Strabismus, Ventricular septal defectView all (6 more) |
