Mitochondria Phenome Knowledgebase

Gene Symbol GFM1
Ensembl ID ENSG00000168827 Entrez 85476
Gene Alias COXPD1; EFG; EFG1; EFGM; EGF1; FLJ12662; FLJ13632; FLJ20773; GFM; hEFG1 Subcellular Locations Mitochondria
Map Position 3q25.1-q26.2 Subcell PMIDs 15537906
OMIM Gene 606639 Protein Complex
Swissprot ID Q96RP9 Swissprot Description Elongation factor G 1, mitochondrial precursor (mEF-G 1)
OMIM Disease Combined oxidative phosphorylation deficiency COXPD1 [609060]

Gene-Feature associations that are associated with 1 Gene

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
GFM1 609060 Musculoskeletal-diseases musculoskeletal #15537906
GFM1 609060 Craniofacial-abnormalities musculoskeletal #15537906
GFM1 609060 Microcephaly mild musculoskeletal 15537906
GFM1 609060 Digestive-system-diseases gastrointestinal #15537906
GFM1 609060 Biliary-tract-diseases gastrointestinal #15537906
GFM1 609060 Cholestasis gastrointestinal 15537906
GFM1 609060 Liver-diseases hepatopathy; liver necrosis; hepatic failure gastrointestinal 15537906
GFM1 609060 Nervous-system-diseases neurologic #15537906
GFM1 609060 Central-nervous-system-diseases neurologic #15537906
GFM1 609060 Brain-diseases neurologic #15537906
GFM1 609060 Encephalopathy hepatoencephalopathy neurologic 15537906
GFM1 609060 Cerebral-atrophy generalized; cerebral atrophy neurologic 15537906
GFM1 609060 Corpus-callosum-hypoplasia neurologic 15537906
GFM1 609060 Neuronal-loss-and-lesions MRI findings; white matter abnormal; basal ganglia abnormal neurologic 15537906
GFM1 609060 Neurologic-manifestations neurologic #15537906
GFM1 609060 Developmental-delay neurologic 15537906
GFM1 609060 Neuromuscular-manifestations neurologic #15537906
GFM1 609060 Muscle-hypertonia upper extremities neurologic 15537906
GFM1 609060 Metabolic-diseases metabolic #15537906
GFM1 609060 Acid-base-imbalance metabolic #15537906
GFM1 609060 Acidosis lactic acidosis metabolic 15537906
GFM1 609060 Hyperbilirubinemia metabolic 15537906
GFM1 609060 Growth-disorders miscellaneous #15537906
GFM1 609060 Growth-deficiency growth retardation; intrauterine miscellaneous 15537906
GFM1 609060 RCCI-deficiency fibroblasts; muscle miscellaneous 15537906
GFM1 609060 RCCIII-deficiency fibroblasts miscellaneous 15537906
GFM1 609060 RCCIV-deficiency fibroblasts; muscle miscellaneous 15537906

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