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GENE - TERM ANNOTATION REPORT

RGD ID: 1305215
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Usb1
Name: U6 snRNA biogenesis phosphodiesterase 1
Acc ID: DOID:0060551
Term: poikiloderma with neutropenia
Definition: A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/20734427 "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)
Usb1 ISOUSB1 (Homo sapiens)7240710OMIM  
Usb1 ISOUSB1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Usb1 ISOUSB1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Poikiloderma with neutropeniaPMID:11737690 PMID:16199547 PMID:18925663 PMID:20004881 PMID:20503306 PMID:20618321 PMID:20817924 PMID:21271650 PMID:21872685 PMID:21967010 PMID:23190533 PMID:25044170 PMID:25741868 PMID:27247962 PMID:27612988 PMID:28353165 PMID:28492532 PMID:29072891 PMID:29770900 PMID:29982244 PMID:32897901 PMID:34179048
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