Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
0.370 GeneticVariation disease BEFREE Identification of a de novo FOXP1 mutation and incidental discovery of inherited genetic variants contributing to a case of autism spectrum disorder and epilepsy. 31111659 2019
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
0.370 Biomarker disease BEFREE For each category, we focus on one gene (CHD8, FOXP1, and RBFOX1) that is significantly linked to ASD and functionally characterized in recent years. 30165121 2019
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
0.370 GeneticVariation disease BEFREE To explore the neuronal basis of FOXP1(R525X) in ASD, we created Foxp1(R521X), a mouse homolog of the human variant. 30124790 2019
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
0.370 Biomarker disease BEFREE Together, these data provide critical mechanistic insights into the function of FOXP1 in the developing neocortex and may reveal molecular pathways at risk in ASD. 29138280 2017
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
0.370 GeneticVariation disease BEFREE In particular, Foxp1 regulation of gene expression appears to be crucial for normal hippocampal development, CA1 plasticity, and spatial learning.<b>SIGNIFICANCE STATEMENT</b> Loss-of-function mutations in the transcription factor <i>Forkhead Box P1</i> (<i>FOXP1</i>) lead to autism spectrum disorder and intellectual disability. 28978667 2017
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
0.370 GeneticVariation disease BEFREE However, in the last few years, novel rare disruptions in FOXP1 have been reported in multiple cases of cognitive dysfunction, including intellectual disability and autism spectrum disorder, together with language impairment. 22736078 2012
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
0.370 Biomarker disease CTD_human Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. 21572417 2011
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
0.370 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