Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR UniProt: the universal protein knowledgebase. 27899622

2017
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 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
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder. 26647308

2016
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment. 25853299

2015
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR FOXP1 mutations cause intellectual disability and a recognizable phenotype. 24214399

2013
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Mild to Moderate Intellectual Disability and Significant Speech and Language Deficits in Patients with FOXP1 Deletions and Mutations. 22670142

2012
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. 21572417

2011
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency. 20571508

2010
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. 20950788

2010
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Multiple domains define the expression and regulatory properties of Foxp1 forkhead transcriptional repressors. 12692134

2003