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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Mfn2 and Charcot-Marie-Tooth disease type 2A2B in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • The annotation has been inferred from sequence orthology with MFN2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Charcot-Marie-Tooth disease type 2A2B  (DOID:0111557)
  • 56 papers in RGD have been used to annotate Mfn2


    • An association has been curated linking Mfn2 and Charcot-Marie-Tooth disease type 2A2B in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with MFN2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Charcot-Marie-Tooth disease type 2A2B  (DOID:0111557)
  • 56 papers in RGD have been used to annotate Mfn2
  • Curation Notes: ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2A2B | ClinVar Annotator: match by term: Severe early-onset axonal neuropathy due to MFN2 deficiency
  • Original References(s): PMID:15064763 PMID:15549395 PMID:16043786 PMID:16199547 PMID:16714318 PMID:16762064 PMID:16835246 PMID:16930284 PMID:17215403 PMID:17296794 PMID:17437620 PMID:18316077 PMID:18425620 PMID:18458227 PMID:18946002 PMID:18957892 PMID:18996695 PMID:19812251 PMID:19889647 PMID:20008656 PMID:20335458 PMID:20350294 PMID:20418531 PMID:20482598 PMID:21285398 PMID:21326314 PMID:21508331 PMID:21531138 PMID:21576112 PMID:21715711 PMID:21840889 PMID:22442078 PMID:22492563 PMID:22494076 PMID:23147504 PMID:23456260 PMID:23781337 PMID:23806086 PMID:24033266 PMID:24088041 PMID:24126688 PMID:24604904 PMID:24803844 PMID:24819634 PMID:24863639 PMID:24957169 PMID:25025039 PMID:25614874 PMID:25741868 PMID:25741909 PMID:26085578 PMID:26114802 PMID:26230519 PMID:26257172 PMID:26307494 PMID:26316991 PMID:26382835 PMID:26454100 PMID:26467025 PMID:26633542 PMID:26633545 PMID:26801520 PMID:26955893 PMID:28215760 PMID:28251916 PMID:28414270 PMID:28492532 PMID:28660751 PMID:29068134 PMID:29266326 PMID:29341354 PMID:29358271 PMID:29361379 PMID:29625556 PMID:29790872 PMID:29858556 PMID:29898954 PMID:30158064 PMID:30340945 PMID:30649465 PMID:30659145 PMID:30882371 PMID:31186069 PMID:31640251 PMID:31673878 PMID:31701603 PMID:31832804 PMID:32214227 PMID:32399692 PMID:32657593 PMID:33415332 PMID:33475540 PMID:33502018 PMID:33841295 PMID:34103343 PMID:34193129 PMID:34354735 PMID:35418194 PMID:8406488 PMID:9409358


    • An association has been curated linking Mfn2 and Charcot-Marie-Tooth disease type 2A2B in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with MFN2 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to Charcot-Marie-Tooth disease type 2A2B  (DOID:0111557)
  • 56 papers in RGD have been used to annotate Mfn2
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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