SLC25A22, solute carrier family 25 member 22, 79751

N. diseases: 106; N. variants: 10
Disease: Early myoclonic encephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy 		0.700 Biomarker disease GENOMICS_ENGLAND SLC25A22 is a novel gene for migrating partial seizures in infancy. 24596948 2013
CUI: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy 		0.700 GermlineCausalMutation disease ORPHANET Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. 15592994 2005
CUI: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy 		0.700 GeneticVariation disease CLINVAR Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. 15592994 2005
CUI: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy 		0.700 GeneticVariation disease UNIPROT Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. 15592994 2005
CUI: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy 		0.700 Biomarker disease CTD_human
CUI: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy 		0.700 CausalMutation disease CLINVAR