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GENE - TERM ANNOTATION REPORT

RGD ID: 731410
Species: Mus musculus
RGD Object: Gene
Symbol: Il6st
Name: interleukin 6 signal transducer
Acc ID: DOID:9001114
Term: Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies
Definition: A systemic immunologic disorder with onset in early infancy. Primary features include lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features. caused by heterozygous gain-of-function mutation in the IL6ST gene on chromosome 5q11.
Definition Source(s): MIM:619750
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)
Il6st ISOIL6ST (Homo sapiens)7240710OMIM  
Il6st ISOIL6ST (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Immunodeficiency 94 with autoinflammation and dysmorphic faciesPMID:19020503 PMID:25741868 PMID:33517393
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