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GENE - TERM ANNOTATION REPORT

RGD ID: 734034
Species: Homo sapiens
RGD Object: Gene
Symbol: CNTF
Name: ciliary neurotrophic factor
Acc ID: DOID:2377
Term: multiple sclerosis
Definition: A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Multiple_sclerosis "DO" "DO", https://ghr.nlm.nih.gov/condition/multiple-sclerosis "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)
CNTFonsetIAGP 1626112RGDDNA:point mutation:intron:G-to-A transition at -6 from the start of exon 2, leads to aberrant splicing, frameshift and a truncated protein 
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