| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.070 | Biomarker | disease | BEFREE | Despite the supportive evidence for the role of SRPX2 in speech and language development and disorders, there are questions over its definitive association with neurodevelopmental disorders and epilepsy. | 30393191 | 2019 | ||||
|
0.070 | Biomarker | disease | BEFREE | In humans, SRPX2 is an epilepsy- and language-associated gene that is a target of the foxhead box protein P2 (FoxP2) transcription factor. | 24179158 | 2013 | ||||
|
0.070 | Biomarker | disease | BEFREE | SRPX2 (Sushi repeat-containing protein, X-linked 2) has recently emerged as a multifunctional protein that is involved in seizure disorders, angiogenesis and cellular adhesion. | 22242148 | 2012 | ||||
|
0.070 | GeneticVariation | disease | BEFREE | Three new copy number variant hotspots are reported linking epilepsy and speech or language impairment; and the links between two known genes for developmental verbal dyspraxia, FOXP2 and SRPX2, begin to be elucidated. | 21293269 | 2011 | ||||
|
0.070 | GeneticVariation | disease | BEFREE | Mutations in transcription factor FOXP2 cause difficulties mastering fluent speech (developmental verbal dyspraxia, DVD), whereas mutations of sushi-repeat protein SRPX2 lead to epilepsy of the rolandic (sylvian) speech areas, with DVD or with bilateral perisylvian polymicrogyria. | 20858596 | 2010 | ||||
|
0.070 | GeneticVariation | disease | BEFREE | We also analysed in 7 affected and 7 healthy members microsatellite markers for 51 candidate loci for epilepsy, including 42 loci containing ion channel genes expressed in the brain, as well as the SPCH1 and SRPX2 loci. | 18508238 | 2008 | ||||
|
0.070 | GeneticVariation | disease | BEFREE | Previous studies have shown that uPAR(-/-) knock-out mice exhibited enhanced susceptibility to epileptic seizures and had brain cortical anomalies consistent with altered neuronal migration and maturation, all features that are reminiscent to the phenotypes caused by SRPX2 mutations. | 18718938 | 2008 |