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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8691657
Species: Homo sapiens
RGD Object: Variant
Symbol: CV141624
Name: NM_006005.3(WFS1):c.-6+11C>T
Acc ID: DOID:0110629
Term: Wolfram syndrome 1
Definition: An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/21538838 "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)
CV141624 IAGP 8554872ClinVarClinVar Annotator: match by term: Wolfram syndrome 1PMID:12955714 PMID:17603484 PMID:18060660 PMID:20301750 PMID:20738327 PMID:33879153
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