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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Mbd5 and autosomal dominant intellectual developmental disorder 1 in Heterocephalus glaber.        

  • 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 MBD5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 15 RGD objects have been annotated to autosomal dominant intellectual developmental disorder 1  (DOID:0070031)
  • 0 papers in RGD have been used to annotate Mbd5
  • Curation Notes: ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: MBD5 associated neurodevelopmental disorder | ClinVar Annotator: match by term: MBD5-related condition
  • Original References(s): PMID:16199547 PMID:17576681 PMID:17847001 PMID:19809484 PMID:19904302 PMID:21981781 PMID:22726846 PMID:23055267 PMID:23422940 PMID:23587880 PMID:23632792 PMID:24885232 PMID:25326635 PMID:25640679 PMID:25741868 PMID:26350204 PMID:26467025 PMID:27222293 PMID:28008202 PMID:28074849 PMID:28454995 PMID:28492532 PMID:29655203 PMID:31820818 PMID:32193494 PMID:32238909 PMID:33427406 PMID:33912662 PMID:35385942 PMID:9536098


  • An association has been curated linking Mbd5 and autosomal dominant intellectual developmental disorder 1 in Heterocephalus glaber.        

  • 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 MBD5 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 15 RGD objects have been annotated to autosomal dominant intellectual developmental disorder 1  (DOID:0070031)
  • 0 papers in RGD have been used to annotate Mbd5


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