| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.660 | GeneticVariation | disease | BEFREE | De novo SOX11 heterozygous mutations have been shown to cause intellectual disability, growth deficiency, and dysmorphic features compatible with mild Coffin-Siris syndrome. | 30661772 | 2019 | ||||
|
0.660 | Biomarker | disease | BEFREE | Surprisingly, heterozygous missense mutations or deletions of SOX11 were recently detected in patients with Coffin-Siris syndrome like syndrome (CSSLS), a neurodevelopmental disorder associated with intellectual disability, demonstrating that in humans SOX11 haploinsufficiency cannot be compensated and raising the question of the function of SOX11 in human neurodevelopment. | 31035284 | 2019 | ||||
|
0.660 | GeneticVariation | disease | BEFREE | We describe a further patient with a mutation in SOX11 and phenotype resembling mild Coffin-Siris syndrome. | 29437512 | 2018 | ||||
|
0.660 | AlteredExpression | disease | BEFREE | Variants in the genes encoding subunits of the BAF complex as well as in SOX11 encoding the transcriptional factor under the control of BAF complex are associated with CSS. | 28787104 | 2018 | ||||
|
0.660 | GeneticVariation | disease | BEFREE | The relevance of SOX11 to human developmental disorders was suggested by a recent report of SOX11 mutations in two patients with Coffin-Siris syndrome. | 26543203 | 2016 | ||||
|
0.660 | GeneticVariation | disease | BEFREE | Here we perform whole-exome sequencing in additional CSS patients, identifying de novo SOX11 mutations in two patients with a mild CSS phenotype. sox11a/b knockdown in zebrafish causes brain abnormalities, potentially explaining the brain phenotype of CSS. | 24886874 | 2014 | ||||
|
0.660 | GermlineCausalMutation | disease | ORPHANET | Here we perform whole-exome sequencing in additional CSS patients, identifying de novo SOX11 mutations in two patients with a mild CSS phenotype. sox11a/b knockdown in zebrafish causes brain abnormalities, potentially explaining the brain phenotype of CSS. | 24886874 | 2014 | ||||
|
0.660 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.660 | Biomarker | disease | CTD_human |