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GENE - TERM ANNOTATION REPORT

RGD ID: 1584828
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Brpf1
Name: bromodomain and PHD finger containing, 1
Acc ID: DOID:9008892
Term: Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis
Definition: An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. (OMIM)
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)
Brpf1 ISOBRPF1 (Homo sapiens)7240710OMIM  
Brpf1 ISOBRPF1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Brpf1 ISOBRPF1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: BRPF1-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosisPMID:25741868 PMID:27939639 PMID:27939640 PMID:28492532 PMID:32010779 PMID:32652122
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