rs112795301, FOXP1

N. diseases: 13
Disease: Autism Spectrum Disorders ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
0.020 GeneticVariation BEFREE To explore the neuronal basis of FOXP1(R525X) in ASD, we created Foxp1(R521X), a mouse homolog of the human variant. 30124790 2019
Autism Spectrum Disorders
CUI: C1510586
Disease: Autism Spectrum Disorders
0.020 GeneticVariation 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