| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.080 | GeneticVariation | disease | BEFREE | Variants in SPAST and KIF5A were the most common causes of autosomal dominant HSP, whereas SPG11 and CYP7B1 were the most common cause of autosomal recessive HSP. | 26374131 | 2016 | ||||
|
0.080 | Biomarker | disease | BEFREE | Clinically, SPG5A has been characterized as a pure form of HSP with a variable age of onset, but recently a broader spectrum of phenotypes has been described. | 24117163 | 2014 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Several forms of HSP were identified, including one patient with SPG31, four with SPG7 (with one novel SPG7 mutation) and two with SPG5 (including two novel CYP7B1 frameshift mutations). | 23812641 | 2013 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | CYP7B1 mutations have been linked directly with the neurodegenerative disease hereditary spastic paraplegia (HSP), with mutations in the CYP7B1 gene identified as being directly responsible for autosomal recessive HSP type 5A (SPG5). | 21541746 | 2012 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Recently the gene (CYP7B1) responsible for SPG5, a pure recessive HSP, has been identified. | 19363635 | 2009 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | The recent identification of mutations in SPG5/CYP7B1 in six autosomal recessive kindred linked to the SPG5 locus on chromosome 8q prompted us to test the relative frequency of SPG5/CYP7B1 variants in 12 families and in sporadic HSP patients by high-resolution melting screening combined with direct sequencing. | 19187859 | 2009 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Our findings suggest CYP7B1 alterations to represent a rather frequent cause of HSP that should be considered in patients with various clinical presentations. | 18855023 | 2009 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | This identified sequence alterations in the cytochrome P450-7B1 (CYP7B1) associated with this pure form of HSP. | 18252231 | 2008 |