Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker disease CLINGEN Leigh map: A novel computational diagnostic resource for mitochondrial disease. 27977873 2017
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker disease CLINGEN New insights into the phenotype of FARS2 deficiency. 29126765 2017
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker disease CLINGEN Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy. 27549011 2016
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker disease CLINGEN Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease. 27095821 2016
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker disease CLINGEN A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia. 26553276 2016
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker disease CLINGEN Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. 22499341 2012
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		0.300 Biomarker disease CLINGEN Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. 22833457 2012