Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE ×
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: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		T 0.800 GeneticVariation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314 2016
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		T 0.800 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314 2016
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		T 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
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		T 0.800 GeneticVariation CLINVAR SPG7 mutations are a common cause of undiagnosed ataxia. 25681447 2015
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		T 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: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		T 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
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		T 0.800 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: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		T 0.800 CausalMutation CLINVAR Functional evaluation of paraplegin mutations by a yeast complementation assay. 20186691 2010
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		T 0.800 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: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		T 0.800 CausalMutation CLINVAR Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. 16534102 2006
dbSNP: rs61755320
rs61755320
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT