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GENE - TERM ANNOTATION REPORT

CRRD ID: 732569
Species: Homo sapiens
CRRD Object: Gene
Symbol: MFN2
Name: mitofusin 2
Acc ID: DOID:2477
Term: motor peripheral neuropathy
Definition: A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)
Definition Source(s): MESH:D015417
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 IAGPRGD:100476758554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:28492532
 IAGPRGD:100492608554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:16043786, PMID:25741868, PMID:28492532
 IAGPRGD:100501968554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:26467025, PMID:28492532
 IAGPRGD:104094338554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:104097368554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:20350294, PMID:21508331, PMID:22492563, PMID:28492532
 IAGPRGD:104098488554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:24957169, PMID:28492532
 IAGPRGD:104099088554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:25741868
 IAGPRGD:104104898554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:25741868, PMID:28492532
 IAGPRGD:104106788554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:28492532
 IAGPRGD:115237188554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:28492532
 IAGPRGD:115774188554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115783428554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115786928554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:28492532
 IAGPRGD:115789598554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115798958554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115802538554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:28492532
 IAGPRGD:115808528554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115810008554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:28492532
 IAGPRGD:115831508554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115839208554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115839268554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115844008554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115844138554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115846558554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115851978554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115855818554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115858258554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115862818554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115866818554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115876448554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115878808554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115880428554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115885358554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115887848554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115893618554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115899308554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115906888554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115910428554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115918918554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115925828554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115937328554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115939228554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:115952398554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:116445708554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:116448568554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:116456858554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:116462018554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:116464288554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:116475228554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:116495648554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:116500778554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:116504118554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:116511618554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:116524528554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:116531098554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:116534178554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:116544588554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:116567338554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:116576958554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:116581458554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:116657788554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:116663018554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:85957218554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:16762064, PMID:19889647, PMID:20350294, PMID:21258814, PMID:21519004, PMID:25403865, PMID:26143526, PMID:26382835, PMID:26392352, PMID:26467025, PMID:27582484, PMID:28251916, PMID:28492532, PMID:29473246
 IAGPRGD:86919478554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:28492532
 IAGPRGD:86919498554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:16043786, PMID:25741868, PMID:28492532
 IAGPRGD:86919518554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

 
 IAGPRGD:86919528554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:25741868
 IAGPRGD:86919558554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:25741868
 IAGPRGD:86919568554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:28492532
 IAGPRGD:86919578554872ClinVarClinVar Annotator: match by term: Hereditary motor and sensory neuropathy

PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.