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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking ANKRD11 and KBG syndrome in Pan paniscus.        

  • 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 ANKRD11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 45 RGD objects have been annotated to KBG syndrome  (DOID:14780)
  • 0 papers in RGD have been used to annotate ANKRD11


  • An association has been curated linking ANKRD11 and KBG syndrome in Pan paniscus.        

  • 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 ANKRD11 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 45 RGD objects have been annotated to KBG syndrome  (DOID:14780)
  • 0 papers in RGD have been used to annotate ANKRD11
  • Curation Notes: ClinVar Annotator: match by term: ANKRD11-related condition | ClinVar Annotator: match by term: KBG syndrome | ClinVar Annotator: match by term: Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies
  • Original References(s): PMID:15378538 PMID:15523620 PMID:15955779 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19344873 PMID:19920853 PMID:21782149 PMID:23463723 PMID:23494856 PMID:24033266 PMID:24088041 PMID:25125236 PMID:25326635 PMID:25356970 PMID:25413698 PMID:25424714 PMID:25464108 PMID:25533962 PMID:25652421 PMID:25741868 PMID:26467025 PMID:26615199 PMID:26633542 PMID:26633545 PMID:27055092 PMID:27605097 PMID:27651234 PMID:27667800 PMID:27900361 PMID:28449295 PMID:28492532 PMID:28529015 PMID:28708303 PMID:28976722 PMID:29100083 PMID:29258554 PMID:29517769 PMID:29565525 PMID:30182498 PMID:30202406 PMID:30919572 PMID:30945278 PMID:31191201 PMID:31337854 PMID:31602316 PMID:31607427 PMID:31690835 PMID:32124548 PMID:32222090 PMID:32238909 PMID:32581362 PMID:32725632 PMID:33144682 PMID:33955014 PMID:34012832 PMID:35330407 PMID:35682590 PMID:35710456 PMID:35833929 PMID:35970914 PMID:9536098


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