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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Map2k2 and cardiofaciocutaneous syndrome 4 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 MAP2K2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to cardiofaciocutaneous syndrome 4  (DOID:0111463)
  • 23 papers in RGD have been used to annotate Map2k2


    • An association has been curated linking Map2k2 and cardiofaciocutaneous syndrome 4 in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Rauen KA, etal.
  • The annotation has been inferred from sequence orthology with MAP2K2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 7 additional annotations were made from Rauen KA, etal.
  • 1 RGD objects have been annotated to cardiofaciocutaneous syndrome 4  (DOID:0111463)
  • 23 papers in RGD have been used to annotate Map2k2
  • Curation Notes: DNA:missense mutation:CDS:p.P128Q (human)


    • An association has been curated linking Map2k2 and cardiofaciocutaneous syndrome 4 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 MAP2K2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to cardiofaciocutaneous syndrome 4  (DOID:0111463)
  • 23 papers in RGD have been used to annotate Map2k2
  • Curation Notes: ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 4 | ClinVar Annotator: match by term: MAP2K2-related condition
  • Original References(s): PMID:16439621 PMID:17366577 PMID:17576681 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18413255 PMID:18456719 PMID:19156172 PMID:19376813 PMID:20358587 PMID:21178588 PMID:22558107 PMID:22753777 PMID:23885229 PMID:24033266 PMID:24265153 PMID:24719372 PMID:24803665 PMID:24896146 PMID:25326637 PMID:25487361 PMID:25741868 PMID:25802880 PMID:26619011 PMID:28492532 PMID:29493581 PMID:29625052 PMID:29696744 PMID:29907801 PMID:30050098 PMID:30773290 PMID:32901917 PMID:9536098


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