| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.180 | GeneticVariation | disease | BEFREE | FOXP1(R525X) is a de novo heterozygous mutation found in patients with autism and severe mental retardation. | 30124790 | 2019 | ||||
|
0.180 | Biomarker | disease | BEFREE | Human FOXP1 is associated with autism, intellectual disability and speech and language deficits. | 28204507 | 2017 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | Mutations in FOXP1 have been linked to neurodevelopmental disorders including intellectual disability and autism; however, the underlying molecular mechanisms remain ill-defined. | 29141232 | 2017 | ||||
|
0.180 | AlteredExpression | disease | BEFREE | Together, these data suggest that proper expression of Foxp1 in the pyramidal neurons of the forebrain is important for regulating gene expression pathways that contribute to specific behaviors reminiscent of those seen in autism and intellectual disability. | 28978667 | 2017 | ||||
|
0.180 | Biomarker | disease | BEFREE | These data support an integral role for FoxP1 in regulating signaling pathways vulnerable in autism and the specific regulation of striatal pathways important for vocal communication. | 26494785 | 2015 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment. | 25853299 | 2015 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | 3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination. | 23287644 | 2013 | ||||
|
0.180 | GeneticVariation | disease | BEFREE | In addition, sequencing of all coding exons of FOXP1 in sporadic NSID (n = 110) or ASD (n = 135) cases, as well as in 570 controls, revealed the presence of a de novo nonsense mutation (c.1573C>T [p.R525X]) in the conserved forkhead DNA-binding domain in a patient with NSID and autism. | 20950788 | 2010 | ||||
|
0.180 | CausalMutation | disease | CLINVAR | |||||||
|
0.180 | GeneticVariation | disease | CLINVAR |