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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking ACTB and Baraitser-Winter syndrome 1 in Canis lupus familiaris.        

  • 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 ACTB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 12 RGD objects have been annotated to Baraitser-Winter syndrome 1  (DOID:0081112)
  • 0 papers in RGD have been used to annotate ACTB


    • An association has been curated linking ACTB and Baraitser-Winter syndrome 1 in Canis lupus familiaris.        

  • 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 ACTB (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 12 RGD objects have been annotated to Baraitser-Winter syndrome 1  (DOID:0081112)
  • 0 papers in RGD have been used to annotate ACTB
  • Curation Notes: ClinVar Annotator: match by term: ACTB-related BAFopathy | ClinVar Annotator: match by term: Baraitser-Winter syndrome 1 | ClinVar Annotator: match by term: Iris coloboma with ptosis, hypertelorism, and mental retardation
  • Original References(s): PMID:10327243 PMID:10411937 PMID:10928857 PMID:11311002 PMID:12325076 PMID:1415343 PMID:16685646 PMID:17576681 PMID:18414213 PMID:19252504 PMID:22366783 PMID:22495914 PMID:23649928 PMID:23756437 PMID:24033266 PMID:24121792 PMID:25052316 PMID:25156961 PMID:25255767 PMID:25640679 PMID:25741868 PMID:25979418 PMID:26275891 PMID:26297194 PMID:26467025 PMID:26583190 PMID:26713879 PMID:26795593 PMID:27633570 PMID:27862284 PMID:27866048 PMID:27868373 PMID:28128450 PMID:28347698 PMID:28487785 PMID:28492532 PMID:28849312 PMID:28991257 PMID:29220674 PMID:29788902 PMID:30315159 PMID:30733661 PMID:31625567 PMID:31898838 PMID:31970217 PMID:32170967 PMID:32368696 PMID:32860008 PMID:32901917 PMID:33446253 PMID:33710394 PMID:3445035 PMID:34970864 PMID:35005077 PMID:35182466 PMID:35313204 PMID:35322241 PMID:35401677 PMID:36474027 PMID:37086329 PMID:9536098 PMID:9714430


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