Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Mfn2 and Charcot-Marie-Tooth Disease Type 6A in Chinchilla lanigera.        

  • 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 6A  (DOID:9007697)
  • 2 papers in RGD have been used to annotate Mfn2


  • An association has been curated linking Mfn2 and Charcot-Marie-Tooth Disease Type 6A in Chinchilla lanigera.        

  • 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 6A  (DOID:9007697)
  • 2 papers in RGD have been used to annotate Mfn2
  • Curation Notes: ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, TYPE 6A | ClinVar Annotator: match by term: HMSN VIA | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY
  • Original References(s): PMID:10732809 PMID:15064763 PMID:15549395 PMID:16043786 PMID:16087932 PMID:16714318 PMID:16762064 PMID:16835246 PMID:16930284 PMID:17215403 PMID:17296794 PMID:17309650 PMID:17437620 PMID:18316077 PMID:18425620 PMID:18458227 PMID:18602827 PMID:18946002 PMID:18957892 PMID:18996695 PMID:19812251 PMID:19889647 PMID:20008656 PMID:20335458 PMID:20350294 PMID:20418531 PMID:20482598 PMID:20951041 PMID:21149811 PMID:21285398 PMID:21326314 PMID:21508331 PMID:21531138 PMID:21576112 PMID:21715711 PMID:21772703 PMID:21840889 PMID:22442078 PMID:22492563 PMID:22494076 PMID:23456260 PMID:23781337 PMID:24033266 PMID:24088041 PMID:24126688 PMID:24604904 PMID:24803844 PMID:24819634 PMID:24863639 PMID:24957169 PMID:25025039 PMID:25741868 PMID:26085578 PMID:26114802 PMID:26230519 PMID:26307494 PMID:26316991 PMID:26382835 PMID:26454100 PMID:26467025 PMID:26633542 PMID:26633545 PMID:26955893 PMID:26989944 PMID:27025386 PMID:27027447 PMID:27088055 PMID:27265096 PMID:27549087 PMID:27863451 PMID:28251916 PMID:28286897 PMID:28414270 PMID:28492532 PMID:28660751 PMID:29266326 PMID:29358271 PMID:29898954 PMID:30158064 PMID:30340945 PMID:30659145 PMID:30882371 PMID:31186069 PMID:31211173 PMID:31372974 PMID:31640251 PMID:31673878 PMID:31832804 PMID:33415332 PMID:33502018 PMID:34103343 PMID:35418194 PMID:9409358


  • Go Back to source page   Continue to Ontology report