| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.180 | GeneticVariation | disease | BEFREE | SPG11 (<i>KIAA1840</i>) and SPG15 (<i>ZFYVE26</i>) are the most common ARHSPs with thin corpus callosum (TCC). | 31385551 | 2019 | ||||
|
0.180 | 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 | ||||
|
0.180 | 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 | ||||
|
0.180 | Biomarker | disease | BEFREE | Mental retardation and thin corpus callosum on magnetic resonance imaging point toward SPG11 and SPG15. | 22266886 | 2011 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is genetically heterogenous and approximately 35% of patients carry mutations in either of the SPG11 or SPG15 genes. | 19194956 | 2009 | ||||
|
0.180 | Biomarker | disease | BEFREE | SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. | 19805727 | 2009 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | One patient with mental retardation and thinning of the corpus callosum was compound heterozygous for two novel SPG15 mutations. | 19917823 | 2009 | ||||
|
0.180 | Biomarker | disease | BEFREE | This finding, together with the report of a mutation in another Italian family, provides confirmation that ZFYVE26 is the second gene responsible for ARHSP-TCC in the Italian population. | 19084844 | 2009 | ||||
|
0.180 | Biomarker | disease | HPO |