rs587777222, CYP7B1

N. diseases: 2
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 GeneticVariation UNIPROT 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 GeneticVariation UNIPROT Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia. 26714052 2016
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
CUI: C1849115
Disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
0.800 GeneticVariation UNIPROT 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 GeneticVariation UNIPROT Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. 21214876 2012
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
CUI: C1849115
Disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
0.800 GeneticVariation UNIPROT 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 Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. 18252231 2008
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
CUI: C1849115
Disease: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
0.800 CausalMutation CLINVAR
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