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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Pbx1 and congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 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 PBX1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay  (DOID:0112359)
  • 14 papers in RGD have been used to annotate Pbx1


    • An association has been curated linking Pbx1 and congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Slavotinek A, etal., Hum Mol Genet. 2017 Dec 15;26(24):4849-4860. doi: 10.1093/hmg/ddx363.
  • The annotation has been inferred from sequence orthology with PBX1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Slavotinek A, etal., Hum Mol Genet. 2017 Dec 15;26(24):4849-4860. doi: 10.1093/hmg/ddx363.
  • 2 RGD objects have been annotated to congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay  (DOID:0112359)
  • 14 papers in RGD have been used to annotate Pbx1
  • Curation Notes: DNA:missense mutations:multiple (human)


    • An association has been curated linking Pbx1 and congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 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 PBX1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 RGD objects have been annotated to congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay  (DOID:0112359)
  • 14 papers in RGD have been used to annotate Pbx1
  • Curation Notes: ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | ClinVar Annotator: match by term: PBX1-related intellectual disability and pleiotropic developmental defects
  • Original References(s): PMID:25741868 PMID:28492532 PMID:28566479 PMID:29036646 PMID:29226118 PMID:29966037 PMID:32860008


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