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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Mcph1 and primary autosomal recessive microcephaly 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Trimborn M, etal., Am J Hum Genet. 2004 Aug;75(2):261-6. Epub 2004 Jun 15.
  • The annotation has been inferred from sequence orthology with MCPH1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Trimborn M, etal., Am J Hum Genet. 2004 Aug;75(2):261-6. Epub 2004 Jun 15.
  • 5 RGD objects have been annotated to primary autosomal recessive microcephaly 1  (DOID:0070285)
  • 20 papers in RGD have been used to annotate Mcph1
  • Curation Notes: DNA:insertion:exon:c.427insA (human)


  • An association has been curated linking Mcph1 and primary autosomal recessive microcephaly 1 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 MCPH1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to primary autosomal recessive microcephaly 1  (DOID:0070285)
  • 20 papers in RGD have been used to annotate Mcph1


  • An association has been curated linking Mcph1 and primary autosomal recessive microcephaly 1 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 MCPH1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 5 RGD objects have been annotated to primary autosomal recessive microcephaly 1  (DOID:0070285)
  • 20 papers in RGD have been used to annotate Mcph1
  • Curation Notes: ClinVar Annotator: match by term: Microcephaly 1, primary, autosomal recessive
  • Original References(s): PMID:11857108 PMID:12046007 PMID:15199523 PMID:16199547 PMID:16311745 PMID:16783362 PMID:18414213 PMID:20101680 PMID:20301772 PMID:20949544 PMID:20978018 PMID:22139841 PMID:22154951 PMID:22908299 PMID:23281133 PMID:25741868 PMID:26467025 PMID:26539891 PMID:28492532 PMID:32714618 PMID:34402213 PMID:7693575


  • An association has been curated linking Mcph1 and primary autosomal recessive microcephaly 1 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 MCPH1 (Homo sapiens) [(EXP) inferred from experiment]
  • 5 RGD objects have been annotated to primary autosomal recessive microcephaly 1  (DOID:0070285)
  • 20 papers in RGD have been used to annotate Mcph1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


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