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GENE - TERM ANNOTATION REPORT

5 Annotations Found.

An association has been curated linking B9D2 and Joubert syndrome 1 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:10041311 (Homo sapiens)
  • 274 RGD objects have been annotated to Joubert syndrome 1  (DOID:0110980)
  • 4 papers in RGD have been used to annotate B9D2
  • Curation Notes: ClinVar Annotator: match by term: Familial aplasia of the vermis
  • Original References(s): PMID:21763481 PMID:28492532


    • An association has been curated linking B9D2 and Joubert syndrome 1 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:10448345 (Homo sapiens)
  • 274 RGD objects have been annotated to Joubert syndrome 1  (DOID:0110980)
  • 4 papers in RGD have been used to annotate B9D2
  • Curation Notes: ClinVar Annotator: match by term: Familial aplasia of the vermis
  • Original References(s): PMID:26092869


    • An association has been curated linking B9D2 and Joubert syndrome 1 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:11346665|RGD:11543852|RGD:11546157|RGD:11546524|RGD:11549616|RGD:11550038|RGD:11659274|RGD:15149093|RGD:156238340 (Homo sapiens) & RGD:11346665|RGD:11543852|RGD:11546157|RGD:11546524|RGD:11549616|RGD:11550038|RGD:11659274|RGD:15149093|RGD:156238340 (Homo sapiens) & RGD:11346665|RGD:11543852|RGD:11546157|RGD:11546524|RGD:11549616|RGD:11550038|RGD:11659274|RGD:15149093|RGD:156238340 (Homo sapiens) & RGD:11346665|RGD:11543852|RGD:11546157|RGD:11546524|RGD:11549616|RGD:11550038|RGD:11659274|RGD:15149093|RGD:156238340 (Homo sapiens) & RGD:11346665|RGD:11543852|RGD:11546157|RGD:11546524|RGD:11549616|RGD:11550038|RGD:11659274|RGD:15149093|RGD:156238340 (Homo sapiens) & RGD:11346665|RGD:11543852|RGD:11546157|RGD:11546524|RGD:11549616|RGD:11550038|RGD:11659274|RGD:15149093|RGD:156238340 (Homo sapiens) & RGD:11346665|RGD:11543852|RGD:11546157|RGD:11546524|RGD:11549616|RGD:11550038|RGD:11659274|RGD:15149093|RGD:156238340 (Homo sapiens) & RGD:11346665|RGD:11543852|RGD:11546157|RGD:11546524|RGD:11549616|RGD:11550038|RGD:11659274|RGD:15149093|RGD:156238340 (Homo sapiens) & RGD:11346665|RGD:11543852|RGD:11546157|RGD:11546524|RGD:11549616|RGD:11550038|RGD:11659274|RGD:15149093|RGD:156238340 (Homo sapiens)
  • 274 RGD objects have been annotated to Joubert syndrome 1  (DOID:0110980)
  • 4 papers in RGD have been used to annotate B9D2
  • Curation Notes: ClinVar Annotator: match by term: Familial aplasia of the vermis
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking B9D2 and Joubert syndrome 1 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:11644550|RGD:11654048|RGD:11654899|RGD:127306575|RGD:13466311|RGD:13468771|RGD:15120888|RGD:15136949|RGD:15153959|RGD:151722146|RGD:151723100|RGD:151780008|RGD:151790135|RGD:151796412|RGD:151872156|RGD:152028707|RGD:155947439|RGD:155947811|RGD:156055331|RGD:156116341|RGD:156117335|RGD:156196604|RGD:156312130|RGD:26914048|RGD:404992838|RGD:405058379|RGD:8570407 (Homo sapiens) & RGD:11644550|RGD:11654048|RGD:11654899|RGD:127306575|RGD:13466311|RGD:13468771|RGD:15120888|RGD:15136949|RGD:15153959|RGD:151722146|RGD:151723100|RGD:151780008|RGD:151790135|RGD:151796412|RGD:151872156|RGD:152028707|RGD:155947439|RGD:155947811|RGD:156055331|RGD:156116341|RGD:156117335|RGD:156196604|RGD:156312130|RGD:26914048|RGD:404992838|RGD:405058379|RGD:8570407 (Homo sapiens) & RGD:11644550|RGD:11654048|RGD:11654899|RGD:127306575|RGD:13466311|RGD:13468771|RGD:15120888|RGD:15136949|RGD:15153959|RGD:151722146|RGD:151723100|RGD:151780008|RGD:151790135|RGD:151796412|RGD:151872156|RGD:152028707|RGD:155947439|RGD:155947811|RGD:156055331|RGD:156116341|RGD:156117335|RGD:156196604|RGD:156312130|RGD:26914048|RGD:404992838|RGD:405058379|RGD:8570407 (Homo sapiens) & RGD:11644550|RGD:11654048|RGD:11654899|RGD:127306575|RGD:13466311|RGD:13468771|RGD:15120888|RGD:15136949|RGD:15153959|RGD:151722146|RGD:151723100|RGD:151780008|RGD:151790135|RGD:151796412|RGD:151872156|RGD:152028707|RGD:155947439|RGD:155947811|RGD:156055331|RGD:156116341|RGD:156117335|RGD:156196604|RGD:156312130|RGD:26914048|RGD:404992838|RGD:405058379|RGD:8570407 (Homo sapiens) & RGD:11644550|RGD:11654048|RGD:11654899|RGD:127306575|RGD:13466311|RGD:13468771|RGD:15120888|RGD:15136949|RGD:15153959|RGD:151722146|RGD:151723100|RGD:151780008|RGD:151790135|RGD:151796412|RGD:151872156|RGD:152028707|RGD:155947439|RGD:155947811|RGD:156055331|RGD:156116341|RGD:156117335|RGD:156196604|RGD:156312130|RGD:26914048|RGD:404992838|RGD:405058379|RGD:8570407 (Homo sapiens) & RGD:11644550|RGD:11654048|RGD:11654899|RGD:127306575|RGD:13466311|RGD:13468771|RGD:15120888|RGD:15136949|RGD:15153959|RGD:151722146|RGD:151723100|RGD:151780008|RGD:151790135|RGD:151796412|RGD:151872156|RGD:152028707|RGD:155947439|RGD:155947811|RGD:156055331|RGD:156116341|RGD:156117335|RGD:156196604|RGD:156312130|RGD:26914048|RGD:404992838|RGD:405058379|RGD:8570407 (Homo sapiens) & RGD:11644550|RGD:11654048|RGD:11654899|RGD:127306575|RGD:13466311|RGD:13468771|RGD:15120888|RGD:15136949|RGD:15153959|RGD:151722146|RGD:151723100|RGD:151780008|RGD:151790135|RGD:151796412|RGD:151872156|RGD:152028707|RGD:155947439|RGD:155947811|RGD:156055331|RGD:156116341|RGD:156117335|RGD:156196604|RGD:156312130|RGD:26914048|RGD:404992838|RGD:405058379|RGD:8570407 (Homo sapiens) & RGD:11644550|RGD:11654048|RGD:11654899|RGD:127306575|RGD:13466311|RGD:13468771|RGD:15120888|RGD:15136949|RGD:15153959|RGD:151722146|RGD:151723100|RGD:151780008|RGD:151790135|RGD:151796412|RGD:151872156|RGD:152028707|RGD:155947439|RGD:155947811|RGD:156055331|RGD:156116341|RGD:156117335|RGD:156196604|RGD:156312130|RGD:26914048|RGD:404992838|RGD:405058379|RGD:8570407 (Homo sapiens) & RGD:11644550|RGD:11654048|RGD:11654899|RGD:127306575|RGD:13466311|RGD:13468771|RGD:15120888|RGD:15136949|RGD:15153959|RGD:151722146|RGD:151723100|RGD:151780008|RGD:151790135|RGD:151796412|RGD:151872156|RGD:152028707|RGD:155947439|RGD:155947811|RGD:156055331|RGD:156116341|RGD:156117335|RGD:156196604|RGD:156312130|RGD:26914048|RGD:404992838|RGD:405058379|RGD:8570407 (Homo sapiens) & RGD:11644550|RGD:11654048|RGD:11654899|RGD:127306575|RGD:13466311|RGD:13468771|RGD:15120888|RGD:15136949|RGD:15153959|RGD:151722146|RGD:151723100|RGD:151780008|RGD:151790135|RGD:151796412|RGD:151872156|RGD:152028707|RGD:155947439|RGD:155947811|RGD:156055331|RGD:156116341|RGD:156117335|RGD:156196604|RGD:156312130|RGD:26914048|RGD:404992838|RGD:405058379|RGD:8570407 (Homo sapiens) & RGD:11644550|RGD:11654048|RGD:11654899|RGD:127306575|RGD:13466311|RGD:13468771|RGD:15120888|RGD:15136949|RGD:15153959|RGD:151722146|RGD:151723100|RGD:151780008|RGD:151790135|RGD:151796412|RGD:151872156|RGD:152028707|RGD:155947439|RGD:155947811|RGD:156055331|RGD:156116341|RGD:156117335|RGD:156196604|RGD:156312130|RGD:26914048|RGD:404992838|RGD:405058379|RGD:8570407 (Homo sapiens) & RGD:11644550|RGD:11654048|RGD:11654899|RGD:127306575|RGD:13466311|RGD:13468771|RGD:15120888|RGD:15136949|RGD:15153959|RGD:151722146|RGD:151723100|RGD:151780008|RGD:151790135|RGD:151796412|RGD:151872156|RGD:152028707|RGD:155947439|RGD:155947811|RGD:156055331|RGD:156116341|RGD:156117335|RGD:156196604|RGD:156312130|RGD:26914048|RGD:404992838|RGD:405058379|RGD:8570407 (Homo sapiens) & RGD:11644550|RGD:11654048|RGD:11654899|RGD:127306575|RGD:13466311|RGD:13468771|RGD:15120888|RGD:15136949|RGD:15153959|RGD:151722146|RGD:151723100|RGD:151780008|RGD:151790135|RGD:151796412|RGD:151872156|RGD:152028707|RGD:155947439|RGD:155947811|RGD:156055331|RGD:156116341|RGD:156117335|RGD:156196604|RGD:156312130|RGD:26914048|RGD:404992838|RGD:405058379|RGD:8570407 (Homo sapiens) & RGD:11644550|RGD:11654048|RGD:11654899|RGD:127306575|RGD:13466311|RGD:13468771|RGD:15120888|RGD:15136949|RGD:15153959|RGD:151722146|RGD:151723100|RGD:151780008|RGD:151790135|RGD:151796412|RGD:151872156|RGD:152028707|RGD:155947439|RGD:155947811|RGD:156055331|RGD:156116341|RGD:156117335|RGD:156196604|RGD:156312130|RGD:26914048|RGD:404992838|RGD:405058379|RGD:8570407 (Homo sapiens) & RGD:11644550|RGD:11654048|RGD:11654899|RGD:127306575|RGD:13466311|RGD:13468771|RGD:15120888|RGD:15136949|RGD:15153959|RGD:151722146|RGD:151723100|RGD:151780008|RGD:151790135|RGD:151796412|RGD:151872156|RGD:152028707|RGD:155947439|RGD:155947811|RGD:156055331|RGD:156116341|RGD:156117335|RGD:156196604|RGD:156312130|RGD:26914048|RGD:404992838|RGD:405058379|RGD:8570407 (Homo sapiens) & RGD:11644550|RGD:11654048|RGD:11654899|RGD:127306575|RGD:13466311|RGD:13468771|RGD:15120888|RGD:15136949|RGD:15153959|RGD:151722146|RGD:151723100|RGD:151780008|RGD:151790135|RGD:151796412|RGD:151872156|RGD:152028707|RGD:155947439|RGD:155947811|RGD:156055331|RGD:156116341|RGD:156117335|RGD:156196604|RGD:156312130|RGD:26914048|RGD:404992838|RGD:405058379|RGD:8570407 (Homo sapiens) & RGD:11644550|RGD:11654048|RGD:11654899|RGD:127306575|RGD:13466311|RGD:13468771|RGD:15120888|RGD:15136949|RGD:15153959|RGD:151722146|RGD:151723100|RGD:151780008|RGD:151790135|RGD:151796412|RGD:151872156|RGD:152028707|RGD:155947439|RGD:155947811|RGD:156055331|RGD:156116341|RGD:156117335|RGD:156196604|RGD:156312130|RGD:26914048|RGD:404992838|RGD:405058379|RGD:8570407 (Homo sapiens) & RGD:11644550|RGD:11654048|RGD:11654899|RGD:127306575|RGD:13466311|RGD:13468771|RGD:15120888|RGD:15136949|RGD:15153959|RGD:151722146|RGD:151723100|RGD:151780008|RGD:151790135|RGD:151796412|RGD:151872156|RGD:152028707|RGD:155947439|RGD:155947811|RGD:156055331|RGD:156116341|RGD:156117335|RGD:156196604|RGD:156312130|RGD:26914048|RGD:404992838|RGD:405058379|RGD:8570407 (Homo sapiens) & RGD:11644550|RGD:11654048|RGD:11654899|RGD:127306575|RGD:13466311|RGD:13468771|RGD:15120888|RGD:15136949|RGD:15153959|RGD:151722146|RGD:151723100|RGD:151780008|RGD:151790135|RGD:151796412|RGD:151872156|RGD:152028707|RGD:155947439|RGD:155947811|RGD:156055331|RGD:156116341|RGD:156117335|RGD:156196604|RGD:156312130|RGD:26914048|RGD:404992838|RGD:405058379|RGD:8570407 (Homo sapiens) & RGD:11644550|RGD:11654048|RGD:11654899|RGD:127306575|RGD:13466311|RGD:13468771|RGD:15120888|RGD:15136949|RGD:15153959|RGD:151722146|RGD:151723100|RGD:151780008|RGD:151790135|RGD:151796412|RGD:151872156|RGD:152028707|RGD:155947439|RGD:155947811|RGD:156055331|RGD:156116341|RGD:156117335|RGD:156196604|RGD:156312130|RGD:26914048|RGD:404992838|RGD:405058379|RGD:8570407 (Homo sapiens) & RGD:11644550|RGD:11654048|RGD:11654899|RGD:127306575|RGD:13466311|RGD:13468771|RGD:15120888|RGD:15136949|RGD:15153959|RGD:151722146|RGD:151723100|RGD:151780008|RGD:151790135|RGD:151796412|RGD:151872156|RGD:152028707|RGD:155947439|RGD:155947811|RGD:156055331|RGD:156116341|RGD:156117335|RGD:156196604|RGD:156312130|RGD:26914048|RGD:404992838|RGD:405058379|RGD:8570407 (Homo sapiens) & RGD:11644550|RGD:11654048|RGD:11654899|RGD:127306575|RGD:13466311|RGD:13468771|RGD:15120888|RGD:15136949|RGD:15153959|RGD:151722146|RGD:151723100|RGD:151780008|RGD:151790135|RGD:151796412|RGD:151872156|RGD:152028707|RGD:155947439|RGD:155947811|RGD:156055331|RGD:156116341|RGD:156117335|RGD:156196604|RGD:156312130|RGD:26914048|RGD:404992838|RGD:405058379|RGD:8570407 (Homo sapiens) & RGD:11644550|RGD:11654048|RGD:11654899|RGD:127306575|RGD:13466311|RGD:13468771|RGD:15120888|RGD:15136949|RGD:15153959|RGD:151722146|RGD:151723100|RGD:151780008|RGD:151790135|RGD:151796412|RGD:151872156|RGD:152028707|RGD:155947439|RGD:155947811|RGD:156055331|RGD:156116341|RGD:156117335|RGD:156196604|RGD:156312130|RGD:26914048|RGD:404992838|RGD:405058379|RGD:8570407 (Homo sapiens) & RGD:11644550|RGD:11654048|RGD:11654899|RGD:127306575|RGD:13466311|RGD:13468771|RGD:15120888|RGD:15136949|RGD:15153959|RGD:151722146|RGD:151723100|RGD:151780008|RGD:151790135|RGD:151796412|RGD:151872156|RGD:152028707|RGD:155947439|RGD:155947811|RGD:156055331|RGD:156116341|RGD:156117335|RGD:156196604|RGD:156312130|RGD:26914048|RGD:404992838|RGD:405058379|RGD:8570407 (Homo sapiens) & RGD:11644550|RGD:11654048|RGD:11654899|RGD:127306575|RGD:13466311|RGD:13468771|RGD:15120888|RGD:15136949|RGD:15153959|RGD:151722146|RGD:151723100|RGD:151780008|RGD:151790135|RGD:151796412|RGD:151872156|RGD:152028707|RGD:155947439|RGD:155947811|RGD:156055331|RGD:156116341|RGD:156117335|RGD:156196604|RGD:156312130|RGD:26914048|RGD:404992838|RGD:405058379|RGD:8570407 (Homo sapiens) & RGD:11644550|RGD:11654048|RGD:11654899|RGD:127306575|RGD:13466311|RGD:13468771|RGD:15120888|RGD:15136949|RGD:15153959|RGD:151722146|RGD:151723100|RGD:151780008|RGD:151790135|RGD:151796412|RGD:151872156|RGD:152028707|RGD:155947439|RGD:155947811|RGD:156055331|RGD:156116341|RGD:156117335|RGD:156196604|RGD:156312130|RGD:26914048|RGD:404992838|RGD:405058379|RGD:8570407 (Homo sapiens) & RGD:11644550|RGD:11654048|RGD:11654899|RGD:127306575|RGD:13466311|RGD:13468771|RGD:15120888|RGD:15136949|RGD:15153959|RGD:151722146|RGD:151723100|RGD:151780008|RGD:151790135|RGD:151796412|RGD:151872156|RGD:152028707|RGD:155947439|RGD:155947811|RGD:156055331|RGD:156116341|RGD:156117335|RGD:156196604|RGD:156312130|RGD:26914048|RGD:404992838|RGD:405058379|RGD:8570407 (Homo sapiens)
  • 274 RGD objects have been annotated to Joubert syndrome 1  (DOID:0110980)
  • 4 papers in RGD have been used to annotate B9D2
  • Curation Notes: ClinVar Annotator: match by term: Familial aplasia of the vermis
  • Original References(s): PMID:28492532


    • An association has been curated linking B9D2 and Joubert syndrome 1 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:10448358|RGD:10448373 (Homo sapiens) & RGD:10448358|RGD:10448373 (Homo sapiens)
  • 274 RGD objects have been annotated to Joubert syndrome 1  (DOID:0110980)
  • 4 papers in RGD have been used to annotate B9D2
  • Curation Notes: ClinVar Annotator: match by term: Familial aplasia of the vermis
  • Original References(s): PMID:26092869 PMID:28771248 PMID:33234550


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