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GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Tbl1xr1 and Pierpont syndrome in Mus musculus.        

  • 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 TBL1XR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Pierpont syndrome  (DOID:0081362)
  • 6 papers in RGD have been used to annotate Tbl1xr1


    • An association has been curated linking Tbl1xr1 and Pierpont syndrome in Mus musculus.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • 1 RGD objects have been annotated to Pierpont syndrome  (DOID:0081362)
  • 6 papers in RGD have been used to annotate Tbl1xr1
  • Curation Notes: OMIM:602342


    • An association has been curated linking Tbl1xr1 and Pierpont syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with TBL1XR1 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to Pierpont syndrome  (DOID:0081362)
  • 6 papers in RGD have been used to annotate Tbl1xr1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Tbl1xr1 and Pierpont syndrome in Mus musculus.        

  • 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 TBL1XR1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Pierpont syndrome  (DOID:0081362)
  • 6 papers in RGD have been used to annotate Tbl1xr1
  • Curation Notes: ClinVar Annotator: match by term: Pierpont syndrome | ClinVar Annotator: match by term: TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome
  • Original References(s): PMID:16199547 PMID:16492805 PMID:17576681 PMID:18414213 PMID:19760657 PMID:21156281 PMID:21156282 PMID:23160955 PMID:25102098 PMID:25741868 PMID:26467025 PMID:26740553 PMID:26769062 PMID:27133561 PMID:27824329 PMID:28492532 PMID:28562391 PMID:28574232 PMID:28588275 PMID:29777588 PMID:30365874 PMID:30577886 PMID:31394400 PMID:31618753 PMID:32369273 PMID:32619424 PMID:32932517 PMID:33527360 PMID:35165208 PMID:9450851 PMID:9536098


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