Gene: CYP7B1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1 		0.120 GeneticVariation disease BEFREE Autosomal recessive (AR) spastic paraplegia type 5 (SPG5) is due to mutations in the CYP7B1 gene, encoding for the cytochrome P450-7B1, responsible for oxysterols 7α-hydroxylation. 26370385 2016
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1 		0.120 CausalMutation disease CLINVAR Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476 2014
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1 		0.120 CausalMutation disease CLINVAR CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A. 24117163 2014
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1 		0.120 CausalMutation disease CLINVAR Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1. 24519355 2014
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1 		0.120 CausalMutation disease CLINVAR Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. 23812641 2013
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1 		0.120 CausalMutation disease CLINVAR Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. 21214876 2012
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1 		0.120 CausalMutation disease CLINVAR Comparative modeling of 25-hydroxycholesterol-7α-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations. 21541746 2012
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1 		0.120 CausalMutation disease CLINVAR Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. 21623769 2011
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1 		0.120 CausalMutation disease CLINVAR Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis. 19812052 2010
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1 		0.120 GeneticVariation disease BEFREE White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1. 19187859 2009
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1 		0.120 CausalMutation disease CLINVAR CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. 19439420 2009
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1 		0.120 CausalMutation disease CLINVAR Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. 18252231 2008
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1 		0.120 CausalMutation disease CLINVAR Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease. 9802883 1998
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1 		0.120 Biomarker disease HPO