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Refine by Category Leukodystrophy with vanishing white matter 5 Leigh syndrome 2 Combined oxidative phosphorylation deficiency 20 1 Hypomyelination with brainstem and spinal cord involvement and leg spasticity 1 Neurodevelopmental disorder with microcephaly, ataxia, and seizures 1 Combined oxidative phosphorylation deficiency 21 1 Infantile liver failure syndrome 1 1 Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 1 Abnormal thyroid hormone metabolism 1 Combined oxidative phosphorylation deficiency 24 1 Interstitial lung and liver disease 1 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 1 Autism 19 1 Combined oxidative phosphorylation deficiency 25 1 Neuronopathy, distal hereditary motor, 5A 1 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia 1 Combined oxidative phosphorylation deficiency 27 1 Neuronopathy, distal hereditary motor, 9 1 Charcot-Marie-Tooth disease 2D 1 Combined oxidative phosphorylation deficiency 3 1
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