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GENE - TERM ANNOTATION REPORT

RGD ID: 1559697
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Foxp2
Name: forkhead box P2
Acc ID: DOID:0111275
Term: speech-language disorder-1
Definition: A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11586359 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/1934976 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Foxp2 ISOFOXP2 (Homo sapiens)11070093RGDDNa:missense mutation, nonsense mutation: :p.R553H, p.R328X (human) 
Foxp2 ISOFOXP2 (Homo sapiens)11072822RGDDNA:missense mutation:exon:p.R553H (human) 
Foxp2 ISOFOXP2 (Homo sapiens)11526702RGDDNA:deletions: :multiple 
Foxp2 ISOFOXP2 (Homo sapiens)11526862RGDDNA:mutations:5' utr, exon, intron:multiple 
Foxp2no_associationISOFOXP2 (Homo sapiens)11536000RGDDNA:missense mutation: :p.P215A (human) 
Foxp2 ISOFOXP2 (Homo sapiens)7240710OMIM  
Foxp2 ISOFOXP2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Childhood apraxia of speech | ClinVar Annotator: match by term: FOXP2-related conditionPMID:11586359 PMID:15877281 PMID:16470794 PMID:16984964 PMID:17033973 PMID:17330859 PMID:20858596 PMID:22105961 PMID:22106036 PMID:22144704 PMID:22434823 PMID:22766611 PMID:2332125 PMID:23918746 PMID:25232744 PMID:25741868 PMID:27336128 PMID:27572252 PMID:27933109 PMID:28492532 PMID:28708303
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