Disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
CUI: C4310750
Disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE 		0.700 Biomarker disease CTD_human