rs116171274, CYP7B1

N. diseases: 3
Disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
CUI: C1849115
Disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
0.800 CausalMutation CLINVAR Genetic and phenotypic characterization of complex hereditary spastic paraplegia. 27217339 2016
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
CUI: C1849115
Disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
0.800 CausalMutation CLINVAR CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A. 24117163 2014
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
CUI: C1849115
Disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
0.800 CausalMutation CLINVAR Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. 23812641 2013
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
CUI: C1849115
Disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
0.800 CausalMutation CLINVAR CYP7B1 mutations in French-Canadian hereditary spastic paraplegia subjects. 22384504 2012
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
CUI: C1849115
Disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
0.800 CausalMutation CLINVAR Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. 21623769 2011
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
CUI: C1849115
Disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
0.800 CausalMutation CLINVAR CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. 19439420 2009
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
CUI: C1849115
Disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
0.800 GeneticVariation UNIPROT