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GENE - TERM ANNOTATION REPORT

12 Annotations Found.

An association has been curated linking Ahi1 and Joubert syndrome 3 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Dixon-Salazar T, etal., Am J Hum Genet 2004 Dec;75(6):979-87. Epub 2004 Oct 04.
  • The annotation has been inferred from sequence orthology with AHI1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Dixon-Salazar T, etal., Am J Hum Genet 2004 Dec;75(6):979-87. Epub 2004 Oct 04.
  • 3 RGD objects have been annotated to Joubert syndrome 3  (DOID:0110998)
  • 19 papers in RGD have been used to annotate Ahi1
  • Curation Notes: DNA:deletion, insertion, missense mutation:exon:1188_89del, p.V443D (1328T>A) (human)


    • An association has been curated linking Ahi1 and Joubert syndrome 3 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Ferland RJ, etal., Nat Genet. 2004 Sep;36(9):1008-13. Epub 2004 Aug 22.
  • The annotation has been inferred from sequence orthology with AHI1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Ferland RJ, etal., Nat Genet. 2004 Sep;36(9):1008-13. Epub 2004 Aug 22.
  • 3 RGD objects have been annotated to Joubert syndrome 3  (DOID:0110998)
  • 19 papers in RGD have been used to annotate Ahi1
  • Curation Notes: DNA:missense mutation, nonsense mutations:cds:p.V443D (1328T>A), p.R351X (1051C>T), p.R435X (1303C>T) (human)


    • An association has been curated linking Ahi1 and Joubert syndrome 3 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Chafai-Elalaoui S, etal., J Med Case Rep. 2015 Nov 5;9:254. doi: 10.1186/s13256-015-0732-3.
  • The annotation has been inferred from sequence orthology with AHI1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Chafai-Elalaoui S, etal., J Med Case Rep. 2015 Nov 5;9:254. doi: 10.1186/s13256-015-0732-3.
  • 3 RGD objects have been annotated to Joubert syndrome 3  (DOID:0110998)
  • 19 papers in RGD have been used to annotate Ahi1
  • Curation Notes: DNA:nonsense mutation:cds:c.910dup (human)


    • An association has been curated linking Ahi1 and Joubert syndrome 3 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Lancaster MA, etal., Nat Med. 2011 Jun;17(6):726-31. doi: 10.1038/nm.2380. Epub 2011 May 29.
  • The annotation has been inferred from sequence orthology with Ahi1 (Mus musculus) [(IMP) inferred from mutant phenotype]
  • 2 additional annotations were made from Lancaster MA, etal., Nat Med. 2011 Jun;17(6):726-31. doi: 10.1038/nm.2380. Epub 2011 May 29.
  • 3 RGD objects have been annotated to Joubert syndrome 3  (DOID:0110998)
  • 19 papers in RGD have been used to annotate Ahi1


    • An association has been curated linking Ahi1 and Joubert syndrome 3 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Valente EM, etal., Ann Neurol. 2006 Mar;59(3):527-34.
  • The annotation has been inferred from sequence orthology with AHI1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Valente EM, etal., Ann Neurol. 2006 Mar;59(3):527-34.
  • 3 RGD objects have been annotated to Joubert syndrome 3  (DOID:0110998)
  • 19 papers in RGD have been used to annotate Ahi1
  • Curation Notes: DNA:insertion, missense mutation, splice-site mutations:cds, intron:multiple


    • An association has been curated linking Ahi1 and Joubert syndrome 3 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Parisi MA, etal., J Med Genet. 2006 Apr;43(4):334-9. Epub 2005 Sep 9.
  • The annotation has been inferred from sequence orthology with AHI1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Parisi MA, etal., J Med Genet. 2006 Apr;43(4):334-9. Epub 2005 Sep 9.
  • 3 RGD objects have been annotated to Joubert syndrome 3  (DOID:0110998)
  • 19 papers in RGD have been used to annotate Ahi1
  • Curation Notes: DNA:missense mutation, nonsense mutations:exon:multiple


    • An association has been curated linking Ahi1 and Joubert syndrome 3 in Rattus norvegicus.        

  • 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 AHI1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Joubert syndrome 3  (DOID:0110998)
  • 19 papers in RGD have been used to annotate Ahi1


    • An association has been curated linking Ahi1 and Joubert syndrome 3 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Zaki MS, etal., Neurology. 2008 Feb 12;70(7):556-65. doi: 10.1212/01.wnl.0000277644.12087.fd.
  • The annotation has been inferred from sequence orthology with AHI1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Zaki MS, etal., Neurology. 2008 Feb 12;70(7):556-65. doi: 10.1212/01.wnl.0000277644.12087.fd.
  • 3 RGD objects have been annotated to Joubert syndrome 3  (DOID:0110998)
  • 19 papers in RGD have been used to annotate Ahi1
  • Curation Notes: DNA:nonsense mutations:exon:3263_3264del, 1181G>A (human)


    • An association has been curated linking Ahi1 and Joubert syndrome 3 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Kroes HY, etal., Eur J Med Genet. 2008 Jan-Feb;51(1):24-34. Epub 2007 Oct 6.
  • The annotation has been inferred from sequence orthology with AHI1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Kroes HY, etal., Eur J Med Genet. 2008 Jan-Feb;51(1):24-34. Epub 2007 Oct 6.
  • 3 RGD objects have been annotated to Joubert syndrome 3  (DOID:0110998)
  • 19 papers in RGD have been used to annotate Ahi1
  • Curation Notes: DNA:missense mutation, nonsense mutations:exon:multiple


    • An association has been curated linking Ahi1 and Joubert syndrome 3 in Rattus norvegicus.        

  • 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 Ahi1 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Joubert syndrome 3  (DOID:0110998)
  • 19 papers in RGD have been used to annotate Ahi1
  • Curation Notes: OMIM:608629


    • An association has been curated linking Ahi1 and Joubert syndrome 3 in Rattus norvegicus.        

  • 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 AHI1 (Homo sapiens) [(EXP) inferred from experiment]
  • 3 RGD objects have been annotated to Joubert syndrome 3  (DOID:0110998)
  • 19 papers in RGD have been used to annotate Ahi1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Ahi1 and Joubert syndrome 3 in Rattus norvegicus.        

  • 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 AHI1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 3 RGD objects have been annotated to Joubert syndrome 3  (DOID:0110998)
  • 19 papers in RGD have been used to annotate Ahi1
  • Curation Notes: ClinVar Annotator: match by term: Joubert syndrome 3
  • Original References(s): PMID:15322546 PMID:15467982 PMID:16155189 PMID:16199547 PMID:16240161 PMID:16453322 PMID:16541367 PMID:17377524 PMID:17409309 PMID:17576681 PMID:18054307 PMID:18414213 PMID:21068128 PMID:21623382 PMID:21866095 PMID:21937992 PMID:22236771 PMID:22693042 PMID:22773737 PMID:23532844 PMID:24033266 PMID:24690944 PMID:25326637 PMID:25356976 PMID:25445212 PMID:25525159 PMID:25558065 PMID:25616960 PMID:25741868 PMID:25741869 PMID:25741913 PMID:25741914 PMID:25741916 PMID:25920555 PMID:26035799 PMID:26035800 PMID:26092869 PMID:26467025 PMID:26541515 PMID:26759440 PMID:28041643 PMID:28097321 PMID:28118669 PMID:28125082 PMID:28431631 PMID:28442542 PMID:28492532 PMID:29146704 PMID:29186038 PMID:29343940 PMID:30055837 PMID:31130284 PMID:31624253 PMID:32165824 PMID:32865313 PMID:33879512 PMID:34191236 PMID:34906502 PMID:9536098


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