Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.080 | GeneticVariation | disease | BEFREE | SPG15 is a recessively inherited HSP variant caused by mutations in the ZFYVE26 gene and is additionally characterized by cerebellar ataxia, mental decline, and progressive thinning of the corpus callosum. | 24367272 | 2013 | ||||
|
0.080 | Biomarker | disease | BEFREE | We studied in more detail the SPG5-related spectrum of complex phenotypes by screening CYPB1 for mutations in a large cohort of 105 Italian hereditary spastic paraplegias (HSPs) index patients including 50 patients with a complicated HSP (cHSP) phenotype overlapping the SPG11- and the SPG15-related forms except for the lack of thin corpus callosum and 55 pure patients. | 21214876 | 2012 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | We show that the gene KIAA0415 encodes a putative helicase that interacts with SPG11 and SPG15, two proteins mutated in hereditary spastic paraplegia (HSP). | 20613862 | 2010 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | A sample of 36 index patients with early onset complicated HSP and a family history compatible with autosomal recessive inheritance was collected and screened for mutations in SPG11 and SPG15. | 19917823 | 2009 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Taking into account previously published results and new data generated in this work, genetic studies revealed significant or putative linkage to known HSP loci in 13 families (34.2%) to either SPG11 (7/38, 18.4%), SPG15 (4/38, 10.5%) or to SPG4 and SPG5 in one family each. | 19438933 | 2009 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | The locus designated spastic paraplegia 15 (SPG15), located in a 16-Mb interval on chromosome 14q, is associated with a rare autosomal recessive complicated form of HSP known as Kjellin's syndrome. | 18098276 | 2008 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | The 17 other AR-HSP families were tested for linkage to the SPG15 locus. | 17661097 | 2007 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Haplotype construction of nearby markers confirms the existence of this novel HSP locus (SPG15) and narrows it to a 19-cM interval flanked by D14S1038 and D14S61. | 11342696 | 2001 |