FOXP1, forkhead box P1, 27086

N. diseases: 317; N. variants: 64
Disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150923
Disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 		0.500 Biomarker disease CLINGEN Characterization of a recurrent missense mutation in the forkhead DNA-binding domain of FOXP1. 30385778 2018
CUI: C3150923
Disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 		0.500 Biomarker disease CLINGEN Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability. 30631761 2018
CUI: C3150923
Disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 		0.500 Biomarker disease CLINGEN A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome. 29330474 2018
CUI: C3150923
Disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 		0.500 Biomarker disease CLINGEN Foxp1 regulation of neonatal vocalizations via cortical development. 29138280 2017
CUI: C3150923
Disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 		0.500 Biomarker disease CLINGEN FOXP1 haploinsufficiency: Phenotypes beyond behavior and intellectual disability? 28884888 2017
CUI: C3150923
Disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 		0.500 Biomarker disease CLINGEN FOXP1-related intellectual disability syndrome: a recognisable entity. 28735298 2017
CUI: C3150923
Disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 		0.500 Biomarker disease CLINGEN 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
CUI: C3150923
Disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 		0.500 Biomarker disease CLINGEN Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder. 26647308 2016
CUI: C3150923
Disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 		0.500 Biomarker disease CLINGEN A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment. 25853299 2015
CUI: C3150923
Disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 		0.500 Biomarker disease CLINGEN Foxp1 regulates cortical radial migration and neuronal morphogenesis in developing cerebral cortex. 26010426 2015
CUI: C3150923
Disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 		0.500 Biomarker disease CLINGEN A case report of de novo missense FOXP1 mutation in a non-Caucasian patient with global developmental delay and severe speech impairment. 25767709 2015
CUI: C3150923
Disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 		0.500 Biomarker disease CLINGEN FoxP1 orchestration of ASD-relevant signaling pathways in the striatum. 26494785 2015
CUI: C3150923
Disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 		0.500 Biomarker disease CLINGEN Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech. 24083349 2013
CUI: C3150923
Disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 		0.500 Biomarker disease CLINGEN FOXP1 mutations cause intellectual disability and a recognizable phenotype. 24214399 2013
CUI: C3150923
Disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 		0.500 Biomarker disease CLINGEN De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. 20950788 2010
CUI: C3150923
Disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 		0.500 Biomarker disease CLINGEN Characterization of Foxp2 and Foxp1 mRNA and protein in the developing and mature brain. 12687690 2003
CUI: C3150923
Disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C3150923
Disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 		0.500 Biomarker disease GENOMICS_ENGLAND