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GENE - TERM ANNOTATION REPORT

RGD ID: 1323738
Species: Homo sapiens
RGD Object: Gene
Symbol: ERF
Name: ETS2 repressor factor
Acc ID: DOID:9001260
Term: CHITAYAT SYNDROME
Definition: A rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose. (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)
ERF IAGP 7240710OMIM  
ERF EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
ERF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Chitayat syndromePMID:25741868 PMID:27738187 PMID:30569521 PMID:30728880 PMID:32592542 PMID:8418638
ERF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Chitayat syndromePMID:23354439 PMID:25741868 PMID:27738187 PMID:28492532 PMID:29758562 PMID:30758909 PMID:32370745
ERF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Chitayat syndromePMID:28492532
ERF IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Chitayat syndromePMID:23354439 PMID:25741868 PMID:28492532
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