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GENE - TERM ANNOTATION REPORT

RGD ID: 18931550
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Lyn
Name: LYN proto-oncogene, Src family tyrosine kinase
Acc ID: DOID:9000447
Term: Systemic Autoinflammatory Disease with Vasculitis
Definition: An autosomal dominant disorder that manifests soon after birth with features such as purpuric skin rash, fever, hepatosplenomegaly, and elevated C-reactive protein (CRP). Caused by heterozygous mutation in the LYN gene on chromosome 8q13.
Definition Source(s): OMIM:620376
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)
Lyn ISOLYN (Homo sapiens)7240710OMIM  
Lyn ISOLYN (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autoinflammatory disease, systemic, with vasculitis | ClinVar Annotator: match by term: LAVLI SYNDROME | ClinVar Annotator: match by term: LYN-related conditionPMID:25741868 PMID:28492532 PMID:36122175 PMID:36932076
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