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: 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: 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