Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.120 CausalMutation CLINVAR Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 24482476

2014
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.120 CausalMutation CLINVAR CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A. 24117163

2014
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.120 CausalMutation CLINVAR Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1. 24519355

2014
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.120 CausalMutation CLINVAR Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. 23812641

2013
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.120 CausalMutation 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
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.120 CausalMutation 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
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.120 CausalMutation 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
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.120 CausalMutation CLINVAR Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis. 19812052

2010
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.120 CausalMutation CLINVAR CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. 19439420

2009
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.120 CausalMutation CLINVAR Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. 18252231

2008
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		0.120 CausalMutation 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