Disease: Spastic Paraplegia, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		0.720 GeneticVariation BEFREE The TmFtsH A359V mutation, a homolog of the human pathogenic A510V mutation of paraplegin (SPG7) causing hereditary spastic paraplegia, does not affect the dynamic behavior of the protease but impairs the ATP-coupled domain compaction and, thus, may account for protease malfunctioning and pathogenesis in hereditary spastic paraplegia. 30044948 2018
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		T 0.720 GeneticVariation CLINVAR Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene. 29057857 2017
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		T 0.720 CausalMutation CLINVAR Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 28832565 2017
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		T 0.720 GeneticVariation CLINVAR Expanded phenotype in a patient with spastic paraplegia 7. 29026558 2017
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		T 0.720 GeneticVariation CLINVAR Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 28832565 2017
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		T 0.720 GeneticVariation CLINVAR Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. 28362824 2017
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		T 0.720 GeneticVariation CLINVAR Clinical and genetic study of hereditary spastic paraplegia in Canada. 27957547 2017
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		0.720 GeneticVariation BEFREE 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
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		T 0.720 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
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		T 0.720 GeneticVariation CLINVAR Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort. 23733235 2013
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		T 0.720 GeneticVariation 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: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		T 0.720 GeneticVariation CLINVAR Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. 23065789 2012
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		T 0.720 GeneticVariation CLINVAR Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. 21623769 2011
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		T 0.720 GeneticVariation CLINVAR Functional evaluation of paraplegin mutations by a yeast complementation assay. 20186691 2010
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		T 0.720 GeneticVariation CLINVAR Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes. 18799786 2008
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		T 0.720 GeneticVariation CLINVAR Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. 16534102 2006
dbSNP: rs562890289
rs562890289
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		T 0.700 CausalMutation CLINVAR Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 28832565 2017
dbSNP: rs760818649
rs760818649
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		GC 0.700 CausalMutation CLINVAR Clinical and genetic study of hereditary spastic paraplegia in Canada. 27957547 2017
dbSNP: rs768823392
rs768823392
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		A 0.700 CausalMutation CLINVAR Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 28832565 2017
dbSNP: rs912983346
rs912983346
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		C 0.700 CausalMutation CLINVAR Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias. 28832565 2017
dbSNP: rs760818649
rs760818649
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		GC 0.700 CausalMutation CLINVAR A founder mutation p.H701P identified as a major cause of SPG7 in Norway. 26756429 2016
dbSNP: rs760818649
rs760818649
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		GC 0.700 CausalMutation CLINVAR SPG7 mutations are a common cause of undiagnosed ataxia. 25681447 2015
dbSNP: rs760818649
rs760818649
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		GC 0.700 CausalMutation CLINVAR Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort. 23733235 2013
dbSNP: rs760818649
rs760818649
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		GC 0.700 CausalMutation CLINVAR Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. 23065789 2012
dbSNP: rs760818649
rs760818649
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0037773
Disease:
Spastic Paraplegia, Hereditary 		GC 0.700 CausalMutation CLINVAR Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. 18563470 2008