|
231
|
|
|
NADH:ubiquinone oxidoreductase subunit S4 |
AQDQ, CI-18, CI-18 kDa, CI-AQDQ, MC1DN1 |
Anemia, Cerebellar ataxia, Cerebellar atrophy, Developmental delay, Developmental regression, Diabetes mellitus, Dysarthria, Dyskinetic syndrome, Encephalopathy, Epileptic encephalopathy, Hearing loss, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Mental retardation, Isolated complex i deficiency, Leigh syndrome, Leigh syndrome with leukodystrophy, Leukodystrophy, Leukoencephalopathy, Liver failure, Microcephaly, Mitochondrial complex deficiency, Mitochondrial diseases, Mitochondrial myopathy, Mood swings, Necrotizing encephalomyelopathy, Necrotizing encephalopathy, Nervous system diseases, Nystagmus, Optic atrophy, Ptosis, Respiratory failure, Retinitis pigmentosa, Strabismus, Ventricular septal defectView all (21 more) |
|
232
|
|
|
NADH:ubiquinone oxidoreductase subunit S5 |
CI-15k, CI15K |
|
|
233
|
|
|
NADH:ubiquinone oxidoreductase subunit S6 |
CI-13kA, CI-13kD-A, CI13KDA, MC1DN9 |
Developmental delay, Diabetes mellitus, 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 (1 more) |
|
234
|
|
|
NADH:ubiquinone oxidoreductase core subunit S8 |
CI-23k, CI23KD, MC1DN2, TYKY |
Anemia, Arthritis, Cerebellar ataxia, Developmental delay, Diabetes mellitus, Dysarthria, Dyskinetic syndrome, Epileptic encephalopathy, Hearing loss, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Mental retardation, Isolated complex i deficiency, Leigh syndrome, Leigh syndrome with leukodystrophy, Leukodystrophy, Leukoencephalopathy, Microcephaly, Mitochondrial complex deficiency, Mitochondrial diseases, Mitochondrial myopathy, Mood swings, Necrotizing encephalomyelopathy, Nervous system diseases, Nystagmus, Optic atrophy, Osteoarthrosis deformans, Ptosis, Retinitis pigmentosa, Strabismus, Ventricular septal defectView all (17 more) |
|
235
|
|
|
NADH:ubiquinone oxidoreductase core subunit V2 |
CI-24k, MC1DN7 |
Anemia, Bipolar disorder, Brain atrophy, Cardiomyopathy, Cerebellar ataxia, Cerebral atrophy, Developmental delay, Developmental regression, Diabetes mellitus, Dysarthria, Epileptic encephalopathy, Hearing loss, Hypertrichosis, Hypertrophic cardiomyopathy, Hypoglycemia, Mental retardation, Isolated complex i deficiency, Leigh syndrome, Leigh syndrome with leukodystrophy, Leukodystrophy, Leukoencephalopathy, Manic disorder, Mental depression, Microcephaly, Mitochondrial complex deficiency, Mitochondrial encephalomyopathy, Mitochondrial myopathy, Mood swings, Myocardial diseases, Necrotizing encephalomyelopathy, Nervous system diseases, Nystagmus, Optic atrophy, Ptosis, Retinitis pigmentosa, Schizophrenia, Strabismus, Ventricular septal defectView all (23 more) |
|
236
|
|
|
NADH:ubiquinone oxidoreductase subunit V3 |
CI-10k, CI-9KD |
|
|
237
|
|
|
NEDD4 E3 ubiquitin protein ligase |
NEDD4-1, RPF1 |
|
|
238
|
|
|
Neural precursor cell expressed, developmentally down-regulated 9 |
CAS-L, CAS2, CASL, CASS2, HEF1 |
|
|
239
|
|
|
Neurofilament medium chain |
NEF3, NF-M, NFM |
|
|
240
|
|
|
Neurofilament heavy chain |
CMT2CC, NFH |
Amyotrophic lateral sclerosis, Anxiety disorder, Charcot-marie-tooth disease, Laryngospasm, Lateral sclerosis, Limb amyotrophy, Mental depression, Mood swings, Myopathy, Nervous system diseases, Pseudobulbar palsy, Respiratory failure, Sensorimotor neuropathy, Sleep apnea |
