rs587777222, CYP7B1

N. diseases: 2
Disease: Spastic Paraplegia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Spastic Paraplegia
CUI: C0037772
Disease: Spastic Paraplegia
0.700 CausalMutation CLINVAR Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1. 24519355 2014
Spastic Paraplegia
CUI: C0037772
Disease: Spastic Paraplegia
0.700 CausalMutation CLINVAR Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. 21214876 2012
Spastic Paraplegia
CUI: C0037772
Disease: Spastic Paraplegia
0.700 CausalMutation CLINVAR Comparative modeling of 25-hydroxycholesterol-7α-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations. 21541746 2012
Spastic Paraplegia
CUI: C0037772
Disease: Spastic Paraplegia
0.700 CausalMutation CLINVAR CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. 19439420 2009