Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.730 GeneticVariation disease BEFREE FARS2 encodes mitochondrial phenylalanyl transfer ribonucleic acid (RNA) synthetase and is implicated in autosomal recessive combined oxidative phosphorylation deficiency 14. 31329004 2019
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.730 CausalMutation disease CLINVAR FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance. 30177229 2018
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.730 Biomarker disease GENOMICS_ENGLAND New insights into the phenotype of FARS2 deficiency. 29126765 2017
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.730 GeneticVariation disease CLINVAR FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy. 28043061 2017
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.730 GeneticVariation disease CLINVAR New insights into the phenotype of FARS2 deficiency. 29126765 2017
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.730 GeneticVariation disease CLINVAR Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease. 27095821 2016
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.730 GeneticVariation disease CLINVAR Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. 27652284 2016
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.730 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.730 GeneticVariation disease BEFREE The FARS2 gene encodes the mitochondrial phenylalanyl-tRNA synthetase and is implicated in autosomal recessive combined oxidative phosphorylation deficiency 14, a clinical condition characterized by infantile onset epilepsy and encephalopathy. 27549011 2016
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.730 GeneticVariation disease BEFREE Recently, mutations in FARS2, which encodes for mitochondrial phenylalanyl-tRNA synthetase, have been implicated in autosomal recessive combined oxidative phosphorylation deficiency 14. 25851414 2015
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.730 GeneticVariation disease CLINVAR Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency. 24161539 2014
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.730 GermlineCausalMutation disease ORPHANET Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. 22499341 2012
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.730 GeneticVariation disease UNIPROT Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. 22833457 2012
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.730 GeneticVariation disease UNIPROT Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. 22499341 2012
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.730 GeneticVariation disease CLINVAR Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. 22833457 2012
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.730 CausalMutation disease CLINVAR Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. 22499341 2012
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.730 Biomarker disease CTD_human
CUI: C4310750
Disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease CLINVAR New insights into the phenotype of FARS2 deficiency. 29126765 2017
CUI: C4310750
Disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND New insights into the phenotype of FARS2 deficiency. 29126765 2017
CUI: C4310750
Disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease UNIPROT A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia. 26553276 2016
CUI: C4310750
Disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE 		0.700 GermlineCausalMutation disease ORPHANET A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia. 26553276 2016
CUI: C4310750
Disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE 		0.700 CausalMutation disease CLINVAR A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia. 26553276 2016
CUI: C4310750
Disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE 		0.700 GeneticVariation disease CLINVAR Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings. 25851414 2015
CUI: C4310750
Disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings. 25851414 2015
CUI: C4310750
Disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings. 25851414 2015