Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
0.800 GeneticVariation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314 2016
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
0.800 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314 2016
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
0.800 GeneticVariation CLINVAR Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation. 26506339 2015
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
0.800 GeneticVariation CLINVAR SPG7 mutations are a common cause of undiagnosed ataxia. 25681447 2015
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
0.800 CausalMutation CLINVAR The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry. 23269439 2013
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
0.800 GeneticVariation CLINVAR SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V. 22571692 2013
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
0.800 GeneticVariation CLINVAR Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. 23065789 2012
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
0.800 CausalMutation CLINVAR Functional evaluation of paraplegin mutations by a yeast complementation assay. 20186691 2010
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
0.800 GeneticVariation CLINVAR Functional evaluation of paraplegin mutations by a yeast complementation assay. 20186691 2010
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
0.800 CausalMutation CLINVAR Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. 16534102 2006
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
0.800 GeneticVariation UNIPROT