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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking Cdk5rap2 and primary autosomal recessive microcephaly 3 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Hassan MJ, etal., BMC Med Genet. 2007 Sep 1;8:58.
  • The annotation has been inferred from sequence orthology with CDK5RAP2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Hassan MJ, etal., BMC Med Genet. 2007 Sep 1;8:58.
  • 1 RGD objects have been annotated to primary autosomal recessive microcephaly 3  (DOID:0070286)
  • 10 papers in RGD have been used to annotate Cdk5rap2
  • Curation Notes: DNA:nonsense mutation:exon:243T>A(p.S81X)(human)


  • An association has been curated linking Cdk5rap2 and primary autosomal recessive microcephaly 3 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Issa L, etal., Orphanet J Rare Dis. 2013 Apr 15;8:59. doi: 10.1186/1750-1172-8-59.
  • The annotation has been inferred from sequence orthology with CDK5RAP2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 additional annotations were made from Issa L, etal., Orphanet J Rare Dis. 2013 Apr 15;8:59. doi: 10.1186/1750-1172-8-59.
  • 1 RGD objects have been annotated to primary autosomal recessive microcephaly 3  (DOID:0070286)
  • 10 papers in RGD have been used to annotate Cdk5rap2
  • Curation Notes: DNA:nonsense mutation:exon: c.4441C>T (p.R1481X)(human)


  • An association has been curated linking Cdk5rap2 and primary autosomal recessive microcephaly 3 in Rattus norvegicus.        

  • 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 CDK5RAP2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to primary autosomal recessive microcephaly 3  (DOID:0070286)
  • 10 papers in RGD have been used to annotate Cdk5rap2


  • An association has been curated linking Cdk5rap2 and primary autosomal recessive microcephaly 3 in Rattus norvegicus.        

  • 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 CDK5RAP2 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to primary autosomal recessive microcephaly 3  (DOID:0070286)
  • 10 papers in RGD have been used to annotate Cdk5rap2
  • Curation Notes: ClinVar Annotator: match by term: CDK5RAP2-related condition | ClinVar Annotator: match by term: Microcephaly 3, primary, autosomal recessive
  • Original References(s): PMID:10677332 PMID:15793586 PMID:17764569 PMID:18414213 PMID:20301772 PMID:20460369 PMID:22887808 PMID:23726037 PMID:23995685 PMID:25326637 PMID:25741868 PMID:26436113 PMID:27391121 PMID:27761245 PMID:28004182 PMID:28492532 PMID:30392784 PMID:31316545


  • An association has been curated linking Cdk5rap2 and primary autosomal recessive microcephaly 3 in Rattus norvegicus.        

  • 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 CDK5RAP2 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to primary autosomal recessive microcephaly 3  (DOID:0070286)
  • 10 papers in RGD have been used to annotate Cdk5rap2
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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