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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Arx and Partington syndrome 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 ARX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Partington syndrome  (DOID:14744)
  • 18 papers in CRRD have been used to annotate Arx


  • An association has been curated linking Arx and Partington syndrome in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Curie A, etal., Orphanet J Rare Dis. 2014 Feb 14;9:25. doi: 10.1186/1750-1172-9-25.
  • The annotation has been inferred from sequence orthology with ARX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Curie A, etal., Orphanet J Rare Dis. 2014 Feb 14;9:25. doi: 10.1186/1750-1172-9-25.
  • 1 CRRD objects have been annotated to Partington syndrome  (DOID:14744)
  • 18 papers in CRRD have been used to annotate Arx
  • Curation Notes: DNA:duplication:exon:c.428-451dup (human)


  • An association has been curated linking Arx and Partington syndrome 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 ARX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Partington syndrome  (DOID:14744)
  • 18 papers in CRRD have been used to annotate Arx
  • Curation Notes: ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 36
  • Original References(s): PMID:25741868


  • An association has been curated linking Arx and Partington syndrome 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 ARX (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 CRRD objects have been annotated to Partington syndrome  (DOID:14744)
  • 18 papers in CRRD have been used to annotate Arx
  • Curation Notes: ClinVar Annotator: match by term: Partington X-linked mental retardation syndrome
  • Original References(s): PMID:10353782, PMID:10398246, PMID:11889467, PMID:11971879, PMID:12116222, PMID:12376938, PMID:12376946, PMID:12376949, PMID:12640086, PMID:15151512, PMID:15200506, PMID:15850492, PMID:16078051, PMID:16235064, PMID:17331656, PMID:17480217, PMID:20506206, PMID:2080994, PMID:21204215, PMID:26029707, PMID:28492532, PMID:3177452, PMID:5008734, PMID:8826464


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    RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.