Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.930 GeneticVariation disease CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314 2016
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.930 CausalMutation disease CLINVAR A founder mutation p.H701P identified as a major cause of SPG7 in Norway. 26756429 2016
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.930 CausalMutation disease CLINVAR A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. 14985266 2004
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.930 CausalMutation disease CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314 2016
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.930 CausalMutation disease CLINVAR Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort. 27790088 2016
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.930 GermlineCausalMutation disease ORPHANET A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation. 17646629 2007
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.930 Biomarker disease GENOMICS_ENGLAND SPG7 mutations are a common cause of undiagnosed ataxia. 25681447 2015
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.930 GeneticVariation disease CLINVAR Functional evaluation of paraplegin mutations by a yeast complementation assay. 20186691 2010
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.930 Biomarker disease GENOMICS_ENGLAND SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V. 22571692 2013
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.930 Biomarker disease GENOMICS_ENGLAND Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. 9635427 1998
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.930 GeneticVariation disease UNIPROT Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. 9635427 1998
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.930 CausalMutation disease CLINVAR Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. 25133958 2014
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.930 Biomarker disease CTD_human
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.930 CausalMutation disease CLINVAR Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. 23812641 2013
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.930 CausalMutation disease CLINVAR SPG7 mutations are a common cause of undiagnosed ataxia. 25681447 2015
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.930 CausalMutation disease CLINVAR Early-onset optic neuropathy as initial clinical presentation in SPG7. 25034272 2014
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.930 CausalMutation disease CLINVAR Functional evaluation of paraplegin mutations by a yeast complementation assay. 20186691 2010
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.930 CausalMutation disease CLINVAR Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort. 23733235 2013
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.930 CausalMutation disease CLINVAR Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis. 27123479 2016
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.930 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.930 GeneticVariation disease BEFREE Mutations in the m-AAA subunits AFG3L2 and paraplegin are associated with autosomal dominant spinocerebellar ataxia (SCA28) and autosomal recessive hereditary spastic paraplegia (SPG7), respectively. 30252181 2018
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.930 GeneticVariation disease BEFREE AFG3L2 forms either a homo-oligomeric isoenzyme or a hetero-oligomeric complex with paraplegin, a homologous protein mutated in hereditary spastic paraplegia type 7 (SPG7). 22022284 2011
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.930 CausalMutation disease CLINVAR Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes. 18799786 2008
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.930 GeneticVariation disease UNIPROT Genetic and phenotypic characterization of complex hereditary spastic paraplegia. 27217339 2016
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.930 GeneticVariation disease UNIPROT Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. 16534102 2006