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GENE - TERM ANNOTATION REPORT

12 Annotations Found.

An association has been curated linking ENAM and amelogenesis imperfecta type 1B in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Rajpar MH, etal., Hum Mol Genet. 2001 Aug 1;10(16):1673-7.
  • 2 additional annotations were made from Rajpar MH, etal., Hum Mol Genet. 2001 Aug 1;10(16):1673-7.
  • 3 RGD objects have been annotated to amelogenesis imperfecta type 1B  (DOID:0110052)
  • 6 papers in RGD have been used to annotate ENAM


    • An association has been curated linking ENAM and amelogenesis imperfecta type 1B 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:8557952 (Homo sapiens)
  • 3 RGD objects have been annotated to amelogenesis imperfecta type 1B  (DOID:0110052)
  • 6 papers in RGD have been used to annotate ENAM
  • Curation Notes: ClinVar Annotator: match by term: Amelogenesis imperfecta type 1B
  • Original References(s): PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 PMID:21597265 PMID:28492532


    • An association has been curated linking ENAM and amelogenesis imperfecta type 1B 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:8557950 (Homo sapiens)
  • 3 RGD objects have been annotated to amelogenesis imperfecta type 1B  (DOID:0110052)
  • 6 papers in RGD have been used to annotate ENAM
  • Curation Notes: ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local
  • Original References(s): PMID:11487571 PMID:22414746


    • An association has been curated linking ENAM and amelogenesis imperfecta type 1B 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:8557951 (Homo sapiens)
  • 3 RGD objects have been annotated to amelogenesis imperfecta type 1B  (DOID:0110052)
  • 6 papers in RGD have been used to annotate ENAM
  • Curation Notes: ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local
  • Original References(s): PMID:11978766


    • An association has been curated linking ENAM and amelogenesis imperfecta type 1B 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:12854317 (Homo sapiens)
  • 3 RGD objects have been annotated to amelogenesis imperfecta type 1B  (DOID:0110052)
  • 6 papers in RGD have been used to annotate ENAM
  • Curation Notes: ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local
  • Original References(s): PMID:28334996


    • An association has been curated linking ENAM and amelogenesis imperfecta type 1B in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 3 RGD objects have been annotated to amelogenesis imperfecta type 1B  (DOID:0110052)
  • 6 papers in RGD have been used to annotate ENAM


    • An association has been curated linking ENAM and amelogenesis imperfecta type 1B 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:150407960 (Homo sapiens)
  • 3 RGD objects have been annotated to amelogenesis imperfecta type 1B  (DOID:0110052)
  • 6 papers in RGD have been used to annotate ENAM
  • Curation Notes: ClinVar Annotator: match by term: Amelogenesis imperfecta type 1B
  • Original References(s): PMID:25741868 PMID:31478359


    • An association has been curated linking ENAM and amelogenesis imperfecta type 1B in Homo sapiens.        

  • The association was inferred from sequence or structural similarity (ISS)
    		•  
  • The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
  • The annotation has been inferred from sequence or structural similarity with Enam (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to amelogenesis imperfecta type 1B  (DOID:0110052)
  • 6 papers in RGD have been used to annotate ENAM
  • Curation Notes: OMIM:104500


    • An association has been curated linking ENAM and amelogenesis imperfecta type 1B 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
  • 3 RGD objects have been annotated to amelogenesis imperfecta type 1B  (DOID:0110052)
  • 6 papers in RGD have been used to annotate ENAM
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking ENAM and amelogenesis imperfecta type 1B 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:11588520|RGD:11644675|RGD:11654791|RGD:11662454|RGD:13528594 (Homo sapiens) & RGD:11588520|RGD:11644675|RGD:11654791|RGD:11662454|RGD:13528594 (Homo sapiens) & RGD:11588520|RGD:11644675|RGD:11654791|RGD:11662454|RGD:13528594 (Homo sapiens) & RGD:11588520|RGD:11644675|RGD:11654791|RGD:11662454|RGD:13528594 (Homo sapiens) & RGD:11588520|RGD:11644675|RGD:11654791|RGD:11662454|RGD:13528594 (Homo sapiens)
  • 3 RGD objects have been annotated to amelogenesis imperfecta type 1B  (DOID:0110052)
  • 6 papers in RGD have been used to annotate ENAM
  • Curation Notes: ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local


    • An association has been curated linking ENAM and amelogenesis imperfecta type 1B 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:126729988|RGD:12907083|RGD:243054433|RGD:243054434 (Homo sapiens) & RGD:126729988|RGD:12907083|RGD:243054433|RGD:243054434 (Homo sapiens) & RGD:126729988|RGD:12907083|RGD:243054433|RGD:243054434 (Homo sapiens) & RGD:126729988|RGD:12907083|RGD:243054433|RGD:243054434 (Homo sapiens)
  • 3 RGD objects have been annotated to amelogenesis imperfecta type 1B  (DOID:0110052)
  • 6 papers in RGD have been used to annotate ENAM
  • Curation Notes: ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local
  • Original References(s): PMID:25741868


    • An association has been curated linking ENAM and amelogenesis imperfecta type 1B 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:596925433 (Homo sapiens)
  • 3 RGD objects have been annotated to amelogenesis imperfecta type 1B  (DOID:0110052)
  • 6 papers in RGD have been used to annotate ENAM
  • Curation Notes: ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local
  • Original References(s): PMID:12828988 PMID:25741868 PMID:33864320


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