FOXP1, forkhead box P1, 27086

N. diseases: 21; N. variants: 26
Source: CLINVAR ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869025202
rs869025202
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C4013764
Disease:
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES 		C 0.800 CausalMutation CLINVAR Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder. 26647308 2016
dbSNP: rs869025203
rs869025203
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C4013764
Disease:
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES 		A 0.800 CausalMutation CLINVAR Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder. 26647308 2016
dbSNP: rs587777855
rs587777855
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C4013764
Disease:
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES 		G 0.800 CausalMutation CLINVAR
dbSNP: rs112795301
rs112795301
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0036857
Disease:
Severe intellectual disability 		A 0.710 CausalMutation CLINVAR
dbSNP: rs1553667322
rs1553667322
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. 27657687 2017
dbSNP: rs1553667322
rs1553667322
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR UniProt: the universal protein knowledgebase. 27899622 2017
dbSNP: rs797045586
rs797045586
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR UniProt: the universal protein knowledgebase. 27899622 2017
dbSNP: rs797045586
rs797045586
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. 27657687 2017
dbSNP: rs797045586
rs797045586
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C4013764
Disease:
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES 		T 0.700 CausalMutation CLINVAR Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders. 28741757 2017
dbSNP: rs1553667322
rs1553667322
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder. 26647308 2016
dbSNP: rs794727155
rs794727155
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C4013764
Disease:
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES 		C 0.700 CausalMutation CLINVAR Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder. 26647308 2016
dbSNP: rs797045586
rs797045586
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder. 26647308 2016
dbSNP: rs1553667322
rs1553667322
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment. 25853299 2015
dbSNP: rs797045586
rs797045586
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment. 25853299 2015
dbSNP: rs1553667322
rs1553667322
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886 2013
dbSNP: rs1553667322
rs1553667322
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR FOXP1 mutations cause intellectual disability and a recognizable phenotype. 24214399 2013
dbSNP: rs797045586
rs797045586
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR FOXP1 mutations cause intellectual disability and a recognizable phenotype. 24214399 2013
dbSNP: rs797045586
rs797045586
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886 2013
dbSNP: rs1553667322
rs1553667322
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Mild to Moderate Intellectual Disability and Significant Speech and Language Deficits in Patients with FOXP1 Deletions and Mutations. 22670142 2012
dbSNP: rs797045586
rs797045586
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Mild to Moderate Intellectual Disability and Significant Speech and Language Deficits in Patients with FOXP1 Deletions and Mutations. 22670142 2012
dbSNP: rs1553667322
rs1553667322
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. 21572417 2011
dbSNP: rs797045586
rs797045586
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. 21572417 2011
dbSNP: rs1553667322
rs1553667322
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency. 20571508 2010
dbSNP: rs1553667322
rs1553667322
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 CausalMutation CLINVAR De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. 20950788 2010
dbSNP: rs797045586
rs797045586
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 GeneticVariation CLINVAR De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. 20950788 2010