Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918358
rs121918358
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0004134
Disease:
Ataxia 		A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314 2016
dbSNP: rs1229749476
rs1229749476
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		G 0.700 CausalMutation CLINVAR Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. 21623769 2011
dbSNP: rs1229749476
rs1229749476
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		G 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort. 22964162 2012
dbSNP: rs1412575396
rs1412575396
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1412575396
rs1412575396
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs141659620
rs141659620
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		A 0.800 CausalMutation CLINVAR Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. 21623769 2011
dbSNP: rs141659620
rs141659620
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. 9635427 1998
dbSNP: rs141659620
rs141659620
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		A 0.800 CausalMutation CLINVAR Early-onset optic neuropathy as initial clinical presentation in SPG7. 25034272 2014
dbSNP: rs141659620
rs141659620
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		A 0.800 CausalMutation CLINVAR Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. 23812641 2013
dbSNP: rs141659620
rs141659620
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs141659620
rs141659620
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Genetic and phenotypic characterization of complex hereditary spastic paraplegia. 27217339 2016
dbSNP: rs141659620
rs141659620
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		A 0.800 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314 2016
dbSNP: rs141659620
rs141659620
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		A 0.800 CausalMutation CLINVAR Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort. 27790088 2016
dbSNP: rs141659620
rs141659620
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		A 0.800 CausalMutation CLINVAR Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort. 23733235 2013
dbSNP: rs141659620
rs141659620
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		A 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
dbSNP: rs141659620
rs141659620
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		A 0.800 CausalMutation CLINVAR Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort. 22964162 2012
dbSNP: rs141659620
rs141659620
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation. 17646629 2007
dbSNP: rs141659620
rs141659620
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		A 0.800 CausalMutation CLINVAR Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes. 18799786 2008
dbSNP: rs141659620
rs141659620
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		A 0.800 CausalMutation CLINVAR Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. 25133958 2014
dbSNP: rs141659620
rs141659620
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Functional evaluation of paraplegin mutations by a yeast complementation assay. 20186691 2010
dbSNP: rs141659620
rs141659620
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. 16534102 2006
dbSNP: rs141659620
rs141659620
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		A 0.800 CausalMutation CLINVAR Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. 23065789 2012
dbSNP: rs141659620
rs141659620
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		A 0.800 CausalMutation CLINVAR Functional evaluation of paraplegin mutations by a yeast complementation assay. 20186691 2010
dbSNP: rs141659620
rs141659620
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0013362
Disease:
Dysarthria 		A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314 2016
dbSNP: rs141659620
rs141659620
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0007758
Disease:
Cerebellar Ataxia 		A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314 2016