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GENE - TERM ANNOTATION REPORT

RGD ID: 1307732
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Recql4
Name: RecQ like helicase 4
Acc ID: DOID:2732
Term: Rothmund-Thomson syndrome
Definition: A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/20113479/ "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)
Recql4 ISORECQL4 (Homo sapiens)1599421RGD  
Recql4 ISORECQL4 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:18616953
Recql4 ISORECQL4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Poikiloderma of Rothmund-Thomson | ClinVar Annotator: match by term: Rothmund-Thomson syndromePMID:10319867 PMID:10678659 PMID:12734318 PMID:12838562 PMID:12952869 PMID:15221963 PMID:15897384 PMID:15964893 PMID:17250521 PMID:18716613 PMID:20113479 PMID:21418107 PMID:24033266 PMID:24635570 PMID:25120469 PMID:25326635 PMID:25741868 PMID:26491355 PMID:27247962 PMID:28492532 PMID:29367366 PMID:29642415 PMID:31829210
Recql4 ISSRecql4 (Mus musculus)13592920MouseDOOMIM:268400 
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