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GENE - TERM ANNOTATION REPORT

RGD ID: 1303274
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Dnmt3b
Name: DNA methyltransferase 3 beta
Acc ID: DOID:0090008
Term: immunodeficiency-centromeric instability-facial anomalies syndrome 1
Definition: An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10647011 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/17893117 "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)
Dnmt3b ISODNMT3B (Homo sapiens)1601084RGDDNA:missense mutations, nonsense mutation: :multiple 
Dnmt3b ISODNMT3B (Homo sapiens)7240710OMIM  
Dnmt3b ISODNMT3B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency | ClinVar Annotator: match by term: Immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16 | ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 1PMID:10555141 PMID:10588719 PMID:10647011 PMID:11038463 PMID:11102980 PMID:11741835 PMID:11919202 PMID:12239717 PMID:12925568 PMID:15580563 PMID:16199547 PMID:16501171 PMID:16543361 PMID:17576681 PMID:17893117 PMID:17908720 PMID:21549127 PMID:21559330 PMID:23486536 PMID:24033266 PMID:24577265 PMID:25640679 PMID:25741868 PMID:26851945 PMID:27153398 PMID:27479843 PMID:27734333 PMID:28128455 PMID:28454995 PMID:28492532 PMID:28713390 PMID:28916186 PMID:29255178 PMID:29659838 PMID:30010917 PMID:30630233 PMID:31681265 PMID:31686314 PMID:32135276 PMID:32888943 PMID:3361388 PMID:9536098
Dnmt3b ISSDnmt3b (Mus musculus)13592920MouseDOOMIM:242860 
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