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GENE - TERM ANNOTATION REPORT

12 Annotations Found.

An association has been curated linking TRPM1 and congenital stationary night blindness in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from van Genderen MM, etal., Am J Hum Genet. 2009 Nov;85(5):730-6. doi: 10.1016/j.ajhg.2009.10.012. Epub 2009 Nov 5.
  • 4 additional annotations were made from van Genderen MM, etal., Am J Hum Genet. 2009 Nov;85(5):730-6. doi: 10.1016/j.ajhg.2009.10.012. Epub 2009 Nov 5.
  • 32 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 8 papers in RGD have been used to annotate TRPM1
  • Curation Notes: DNA:deletion, missense mutations:cds:multiple (human)


    • An association has been curated linking TRPM1 and congenital stationary night blindness in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Li Z, etal., Am J Hum Genet. 2009 Nov;85(5):711-9. doi: 10.1016/j.ajhg.2009.10.003. Epub 2009 Oct 29.
  • 9 additional annotations were made from Li Z, etal., Am J Hum Genet. 2009 Nov;85(5):711-9. doi: 10.1016/j.ajhg.2009.10.003. Epub 2009 Oct 29.
  • 32 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 8 papers in RGD have been used to annotate TRPM1
  • Curation Notes: DNA:mutations:exon, intron:multiple (human)


    • An association has been curated linking TRPM1 and congenital stationary night blindness in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11640554 (Homo sapiens)
  • 32 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 8 papers in RGD have been used to annotate TRPM1
  • Curation Notes: ClinVar Annotator: match by term: Congenital stationary night blindness
  • Original References(s): PMID:19878917 PMID:28041643 PMID:28492532 PMID:29074561


    • An association has been curated linking TRPM1 and congenital stationary night blindness in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Audo I, etal., Am J Hum Genet. 2009 Nov;85(5):720-9. doi: 10.1016/j.ajhg.2009.10.013. Epub 2009 Nov 5.
  • 4 additional annotations were made from Audo I, etal., Am J Hum Genet. 2009 Nov;85(5):720-9. doi: 10.1016/j.ajhg.2009.10.013. Epub 2009 Nov 5.
  • 32 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 8 papers in RGD have been used to annotate TRPM1
  • Curation Notes: DNA:mutations:multiple (human)


    • An association has been curated linking TRPM1 and congenital stationary night blindness in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:12907374 (Homo sapiens)
  • 32 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 8 papers in RGD have been used to annotate TRPM1
  • Curation Notes: ClinVar Annotator: match by term: Congenital stationary night blindness
  • Original References(s): PMID:19896113 PMID:25741868 PMID:33691579


    • An association has been curated linking TRPM1 and congenital stationary night blindness in Homo sapiens.        

  • The association was inferred from experiment (EXP)
    		•  
  • The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
  • 32 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 8 papers in RGD have been used to annotate TRPM1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking TRPM1 and congenital stationary night blindness in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13435222 (Homo sapiens)
  • 32 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 8 papers in RGD have been used to annotate TRPM1
  • Curation Notes: ClinVar Annotator: match by term: Congenital stationary night blindness
  • Original References(s): PMID:19896113 PMID:19966281 PMID:20300565 PMID:28041643 PMID:28492532


    • An association has been curated linking TRPM1 and congenital stationary night blindness in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13435094 (Homo sapiens)
  • 32 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 8 papers in RGD have been used to annotate TRPM1
  • Curation Notes: ClinVar Annotator: match by term: Congenital stationary night blindness
  • Original References(s): PMID:17576681 PMID:27803854 PMID:28041643 PMID:28492532 PMID:9536098


    • An association has been curated linking TRPM1 and congenital stationary night blindness in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13434939|RGD:13434990|RGD:13435087|RGD:13435186 (Homo sapiens) & RGD:13434939|RGD:13434990|RGD:13435087|RGD:13435186 (Homo sapiens) & RGD:13434939|RGD:13434990|RGD:13435087|RGD:13435186 (Homo sapiens) & RGD:13434939|RGD:13434990|RGD:13435087|RGD:13435186 (Homo sapiens)
  • 32 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 8 papers in RGD have been used to annotate TRPM1
  • Curation Notes: ClinVar Annotator: match by term: Congenital stationary night blindness
  • Original References(s): PMID:28041643


    • An association has been curated linking TRPM1 and congenital stationary night blindness in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:13833683|RGD:21405198 (Homo sapiens) & RGD:13833683|RGD:21405198 (Homo sapiens)
  • 32 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 8 papers in RGD have been used to annotate TRPM1
  • Curation Notes: ClinVar Annotator: match by term: Congenital stationary night blindness
  • Original References(s): PMID:25741868


    • An association has been curated linking TRPM1 and congenital stationary night blindness in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11620696|RGD:11622189 (Homo sapiens) & RGD:11620696|RGD:11622189 (Homo sapiens)
  • 32 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 8 papers in RGD have been used to annotate TRPM1
  • Curation Notes: ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
  • Original References(s): PMID:28492532


    • An association has been curated linking TRPM1 and congenital stationary night blindness in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • 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 by association of genotype and phenotype with RGD:11635781|RGD:11654297|RGD:21405199 (Homo sapiens) & RGD:11635781|RGD:11654297|RGD:21405199 (Homo sapiens) & RGD:11635781|RGD:11654297|RGD:21405199 (Homo sapiens)
  • 32 RGD objects have been annotated to congenital stationary night blindness  (DOID:0050534)
  • 8 papers in RGD have been used to annotate TRPM1
  • Curation Notes: ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive | ClinVar Annotator: match by term: Congenital stationary night blindness


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