Mitochondria Phenome Knowledgebase

Gene Symbol NDUFS3
Ensembl ID ENSG00000110536 Entrez 4722
Gene Alias - Subcellular Locations Mitochondria Mitochondrial-inner-membrane
Map Position 11p11.11 Subcell PMIDs 14729820
OMIM Gene 603846 Protein Complex Respiratory chain complex I (RCCI)
Swissprot ID O75489 Swissprot Description NADH-ubiquinone oxidoreductase 30 kDa subunit, mitochondrial precursor
OMIM Disease Deficiency of respiratory chain complex I (RCC1) [252010]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
NDUFS3 252010 Musculoskeletal-diseases musculoskeletal #14729820
NDUFS3 252010 Bone-diseases musculoskeletal #14729820
NDUFS3 252010 Spinal-diseases kyphoscoliosis musculoskeletal 14729820
NDUFS3 252010 Digestive-system-diseases gastrointestinal #14729820
NDUFS3 252010 Gastrointestinal-diseases gastrointestinal #14729820
NDUFS3 252010 Deglutition-disorders oral pharyngeal motor dysfunction gastrointestinal 14729820
NDUFS3 252010 Pancreatic-diseases gastrointestinal #14729820
NDUFS3 252010 Pancreatitis acute pancreatitis gastrointestinal 14729820
NDUFS3 252010 Respiratory-tract-diseases respiratory #14729820
NDUFS3 252010 Respiration-disorders respiratory #14729820
NDUFS3 252010 Respiratory-insufficiency severe respiratory insufficiency respiratory 14729820
NDUFS3 252010 Nervous-system-diseases neurologic #14729820
NDUFS3 252010 Central-nervous-system-diseases neurologic #14729820
NDUFS3 252010 Brain-diseases neurologic #14729820
NDUFS3 252010 Encephalopathy encephalomyelopathy; Leigh like neurologic 14729820
NDUFS3 252010 Seizures convulsion; febrile seizures neurologic 14729820
NDUFS3 252010 Movement-disorders neurologic #14729820
NDUFS3 252010 Dystonic-disorders dystonia neurologic 14729820
NDUFS3 252010 Spinal-cord-diseases encephalomyelopathy; myelopathy; Leigh like neurologic 14729820
NDUFS3 252010 Extrapyramidal-tract-signs neurologic 14729820
NDUFS3 252010 Neuronal-loss-and-lesions MRI findings; bilateral symmetric; signal intensity abnormalities; thalamus abnormal; putamen abnormal; white matter abnormal; brain stem abnormal neurologic 14729820
NDUFS3 252010 Neurologic-manifestations neurologic #14729820
NDUFS3 252010 Neuromuscular-manifestations neurologic #14729820
NDUFS3 252010 Muscle-weakness tetraparetic syndrome neurologic 14729820
NDUFS3 252010 Muscle-aching-and-stiffness stiff neck; persistent stiff neck neurologic 14729820
NDUFS3 252010 Paralysis-Paresis tetraparetic syndrome neurologic 14729820
NDUFS3 252010 Reflexes-abnormal neurologic #14729820
NDUFS3 252010 Pyramidal-tract-signs pyramidal symptoms neurologic 14729820
NDUFS3 252010 Eye-diseases ophthalmologic #14729820
NDUFS3 252010 Optic-nerve-diseases optic disc pallor; mild ophthalmologic 14729820
NDUFS3 252010 Electroretinography-abnormal retroretinal conduction impairment ophthalmologic 14729820
NDUFS3 252010 Cardiovascular-diseases cardiovascular #14729820
NDUFS3 252010 Cardiorespiratory-arrest cardiovascular 14729820
NDUFS3 252010 Metabolic-diseases metabolic #14729820
NDUFS3 252010 Acid-base-imbalance metabolic #14729820
NDUFS3 252010 Acidosis lactic acidosis; CSF metabolic 14729820
NDUFS3 252010 RCCI-deficiency muscle; fibroblasts miscellaneous 14729820

©2006-2009 Stanford Genome Technology Center, Stanford University | Webmastercreative commons