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GENE - TERM ANNOTATION REPORT

RGD ID: 732790
Species: Homo sapiens
RGD Object: Gene
Symbol: LMNA
Name: lamin A/C
Acc ID: DOID:5688
Term: Werner syndrome
Definition: A progeroid syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers and that has_material_basis_in mutations in the WRN gene, on chromosome 8. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Werner_syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/15946710 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/9288107 "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)
LMNA IAGP 12791031RGDatypical;DNA:missense mutations:cds:p.A57P, p.R133L, p.L140R (human) 
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