rs112795301, FOXP1

N. diseases: 13
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
0.710 GeneticVariation BEFREE FOXP1(R525X) is a de novo heterozygous mutation found in patients with autism and severe mental retardation. 30124790 2019
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
0.710 CausalMutation CLINVAR
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES
CUI: C4013764
Disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES
0.700 CausalMutation CLINVAR
Low set ears
CUI: C0239234
Disease: Low set ears
0.700 CausalMutation CLINVAR
Nasal bridge wide
CUI: C1849367
Disease: Nasal bridge wide
0.700 CausalMutation CLINVAR
Prominent forehead
CUI: C1837260
Disease: Prominent forehead
0.700 CausalMutation CLINVAR
Persistent cavum septum pellucidum
CUI: C1840380
Disease: Persistent cavum septum pellucidum
0.700 CausalMutation CLINVAR
Hair whorls
CUI: C1185616
Disease: Hair whorls
0.700 CausalMutation CLINVAR
MEGALENCEPHALY, AUTOSOMAL DOMINANT
CUI: C3805727
Disease: MEGALENCEPHALY, AUTOSOMAL DOMINANT
0.700 CausalMutation CLINVAR
Abnormality of skin adnexa morphology
CUI: C4023518
Disease: Abnormality of skin adnexa morphology
0.700 CausalMutation CLINVAR
Partial or complete agenesis of corpus callosum
CUI: C1857278
Disease: Partial or complete agenesis of corpus callosum
0.700 CausalMutation CLINVAR
Profound global developmental delay
CUI: C3553450
Disease: Profound global developmental delay
0.700 CausalMutation CLINVAR
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
0.020 GeneticVariation BEFREE FOXP1(R525X) is a de novo heterozygous mutation found in patients with autism and severe mental retardation. 30124790 2019
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
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
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