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GENE - TERM ANNOTATION REPORT

RGD ID: 12079702
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: IL6
Name: interleukin 6
Acc ID: DOID:0060793
Term: hypomyelinating leukodystrophy 5
Definition: A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/16951682 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/17683097 "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)
IL6 ISOIL6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Hypomyelination and Congenital CataractPMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532
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