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GENE - TERM ANNOTATION REPORT

RGD ID: 628843
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Mfn2
Name: mitofusin 2
Acc ID: DOID:0080734
Term: Ehlers-Danlos syndrome kyphoscoliotic type 1
Definition: An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe\nand that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/28306229/ "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)
Mfn2 ISOMFN2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1PMID:28492532
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