Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060503425
rs1060503425
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		AGC 0.700 CausalMutation CLINVAR
dbSNP: rs1217391623
rs1217391623
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0234979
Disease:
Dysdiadochokinesis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1217391623
rs1217391623
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0028738
Disease:
Nystagmus 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1217391623
rs1217391623
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0549629
Disease:
Abnormal delivery 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1217391623
rs1217391623
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1217391623
rs1217391623
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0026838
Disease:
Muscle Spasticity 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1217391623
rs1217391623
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C4072903
Disease:
Primary Caesarian section 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1217391623
rs1217391623
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0151786
Disease:
Muscle Weakness 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1217391623
rs1217391623
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0751837
Disease:
Gait Ataxia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1217391623
rs1217391623
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0029131
Disease:
Abnormality of the optic nerve 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1217391623
rs1217391623
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0013362
Disease:
Dysarthria 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1217391623
rs1217391623
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0231686
Disease:
Gait, Unsteady 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918357
rs121918357
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: rs121918357
rs121918357
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: rs121918357
rs121918357
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: rs121918357
rs121918357
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: rs121918357
rs121918357
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121918357
rs121918357
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: rs121918358
rs121918358
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0026838
Disease:
Muscle Spasticity 		A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314 2016
dbSNP: rs121918358
rs121918358
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation 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: rs121918358
rs121918358
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: rs121918358
rs121918358
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. 18200586 2008
dbSNP: rs121918358
rs121918358
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314 2016
dbSNP: rs121918358
rs121918358
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C1846564
Disease:
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. 24727571 2014
dbSNP: rs121918358
rs121918358
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
CUI: C0028738
Disease:
Nystagmus 		A 0.700 CausalMutation CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314 2016