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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Med12 and FG syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Risheg H, etal., Nat Genet. 2007 Apr;39(4):451-3. Epub 2007 Mar 4.
  • The annotation has been inferred from sequence orthology with MED12 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 8 additional annotations were made from Risheg H, etal., Nat Genet. 2007 Apr;39(4):451-3. Epub 2007 Mar 4.
  • 15 RGD objects have been annotated to FG syndrome  (DOID:14711)
  • 14 papers in RGD have been used to annotate Med12
  • Curation Notes: DNA:missense mutation:cds:2881C>T(p.R961W)(human)


    • An association has been curated linking Med12 and FG syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Rump P, etal., Clin Genet. 2011 Feb;79(2):183-8. doi: 10.1111/j.1399-0004.2010.01449.x.
  • The annotation has been inferred from sequence orthology with MED12 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Rump P, etal., Clin Genet. 2011 Feb;79(2):183-8. doi: 10.1111/j.1399-0004.2010.01449.x.
  • 15 RGD objects have been annotated to FG syndrome  (DOID:14711)
  • 14 papers in RGD have been used to annotate Med12
  • Curation Notes: DNA:missense mutation:cds:p.G958E(human)


    • An association has been curated linking Med12 and FG syndrome 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 MED12 (Homo sapiens) [(EXP) inferred from experiment]
  • 15 RGD objects have been annotated to FG syndrome  (DOID:14711)
  • 14 papers in RGD have been used to annotate Med12
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:17334363


    • An association has been curated linking Med12 and FG syndrome 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 MED12 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 15 RGD objects have been annotated to FG syndrome  (DOID:14711)
  • 14 papers in RGD have been used to annotate Med12
  • Curation Notes: ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome
  • Original References(s): PMID:10405444 PMID:10982179 PMID:16199547 PMID:16700052 PMID:17334363 PMID:17369503 PMID:17576681 PMID:18414213 PMID:18691967 PMID:18805826 PMID:18973276 PMID:19938245 PMID:20301719 PMID:20981778 PMID:23091001 PMID:23395478 PMID:23506379 PMID:23757202 PMID:24033266 PMID:24039113 PMID:24077912 PMID:24715367 PMID:24728327 PMID:25326635 PMID:25326637 PMID:25644381 PMID:25741868 PMID:26273451 PMID:26338144 PMID:26350204 PMID:26467025 PMID:26813965 PMID:27081531 PMID:27312080 PMID:27500536 PMID:27620904 PMID:27980443 PMID:28369444 PMID:28492532 PMID:28544239 PMID:28794916 PMID:30006928 PMID:30729724 PMID:31536828 PMID:32174975 PMID:32371413 PMID:32410215 PMID:32682435 PMID:32715471 PMID:32779332 PMID:33023636 PMID:33244165 PMID:33244166 PMID:33913598 PMID:34008892 PMID:34079076 PMID:34573309 PMID:36271811 PMID:6711603 PMID:8279489 PMID:9536098


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