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GENE - TERM ANNOTATION REPORT

11 Annotations Found.

An association has been curated linking TMEM67 and Bardet-Biedl syndrome 14 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 4 RGD objects have been annotated to Bardet-Biedl syndrome 14  (DOID:0110136)
  • 23 papers in RGD have been used to annotate TMEM67


    • An association has been curated linking TMEM67 and Bardet-Biedl syndrome 14 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:8591190 (Homo sapiens)
  • 4 RGD objects have been annotated to Bardet-Biedl syndrome 14  (DOID:0110136)
  • 23 papers in RGD have been used to annotate TMEM67
  • Curation Notes: ClinVar Annotator: match by term: Bardet-Biedl syndrome 14
  • Original References(s): PMID:18414213 PMID:25741868 PMID:28492532 PMID:29127258


    • An association has been curated linking TMEM67 and Bardet-Biedl syndrome 14 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:8591183 (Homo sapiens)
  • 4 RGD objects have been annotated to Bardet-Biedl syndrome 14  (DOID:0110136)
  • 23 papers in RGD have been used to annotate TMEM67
  • Curation Notes: ClinVar Annotator: match by term: Bardet-Biedl syndrome 14
  • Original References(s): PMID:17397051 PMID:18414213 PMID:19574260 PMID:20232449 PMID:21068128 PMID:21866095 PMID:25741868 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28492532


    • An association has been curated linking TMEM67 and Bardet-Biedl syndrome 14 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:8556166 (Homo sapiens)
  • 4 RGD objects have been annotated to Bardet-Biedl syndrome 14  (DOID:0110136)
  • 23 papers in RGD have been used to annotate TMEM67
  • Curation Notes: ClinVar Annotator: match by term: Bardet-Biedl syndrome 14
  • Original References(s): PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28492532


    • An association has been curated linking TMEM67 and Bardet-Biedl syndrome 14 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
  • 4 RGD objects have been annotated to Bardet-Biedl syndrome 14  (DOID:0110136)
  • 23 papers in RGD have been used to annotate TMEM67
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking TMEM67 and Bardet-Biedl syndrome 14 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:8556161 (Homo sapiens)
  • 4 RGD objects have been annotated to Bardet-Biedl syndrome 14  (DOID:0110136)
  • 23 papers in RGD have been used to annotate TMEM67
  • Curation Notes: ClinVar Annotator: match by term: Bardet-Biedl syndrome 14
  • Original References(s): PMID:19058225 PMID:19508969 PMID:19574260 PMID:20232449 PMID:21633164 PMID:21866095 PMID:25741868 PMID:26092869 PMID:28125082 PMID:28492532 PMID:28497568 PMID:28973083 PMID:2929661


    • An association has been curated linking TMEM67 and Bardet-Biedl syndrome 14 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:8556160 (Homo sapiens)
  • 4 RGD objects have been annotated to Bardet-Biedl syndrome 14  (DOID:0110136)
  • 23 papers in RGD have been used to annotate TMEM67
  • Curation Notes: ClinVar Annotator: match by term: Bardet-Biedl syndrome 14
  • Original References(s): PMID:17377820 PMID:17397051 PMID:19508969 PMID:20232449 PMID:21866095 PMID:23351400 PMID:23559409 PMID:25741868 PMID:25920555 PMID:26092869 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28973083 PMID:29146704 PMID:29891882 PMID:9375913


    • An association has been curated linking TMEM67 and Bardet-Biedl syndrome 14 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:127247400 (Homo sapiens)
  • 4 RGD objects have been annotated to Bardet-Biedl syndrome 14  (DOID:0110136)
  • 23 papers in RGD have been used to annotate TMEM67
  • Curation Notes: ClinVar Annotator: match by term: Bardet-Biedl syndrome 14
  • Original References(s): PMID:20232449 PMID:23559409 PMID:25741868 PMID:28492532


    • An association has been curated linking TMEM67 and Bardet-Biedl syndrome 14 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:10049609 (Homo sapiens)
  • 4 RGD objects have been annotated to Bardet-Biedl syndrome 14  (DOID:0110136)
  • 23 papers in RGD have been used to annotate TMEM67
  • Curation Notes: ClinVar Annotator: match by term: Bardet-Biedl syndrome 14
  • Original References(s): PMID:25412400 PMID:25741868 PMID:28492532


    • An association has been curated linking TMEM67 and Bardet-Biedl syndrome 14 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:15129876|RGD:151829687|RGD:152037026 (Homo sapiens) & RGD:15129876|RGD:151829687|RGD:152037026 (Homo sapiens) & RGD:15129876|RGD:151829687|RGD:152037026 (Homo sapiens)
  • 4 RGD objects have been annotated to Bardet-Biedl syndrome 14  (DOID:0110136)
  • 23 papers in RGD have been used to annotate TMEM67
  • Curation Notes: ClinVar Annotator: match by term: Bardet-Biedl syndrome 14
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking TMEM67 and Bardet-Biedl syndrome 14 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:8595388 (Homo sapiens)
  • 4 RGD objects have been annotated to Bardet-Biedl syndrome 14  (DOID:0110136)
  • 23 papers in RGD have been used to annotate TMEM67
  • Curation Notes: ClinVar Annotator: match by term: Bardet-Biedl syndrome 14, modifier of
  • Original References(s): PMID:18327255 PMID:22700954 PMID:25741868 PMID:28492532


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