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GENE - TERM ANNOTATION REPORT

3 Annotations Found.

An association has been curated linking Ahi1 and Joubert syndrome 1 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]
  • 238 RGD objects have been annotated to Joubert syndrome 1  (DOID:0110980)
  • 19 papers in RGD have been used to annotate Ahi1
  • Curation Notes: ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1
  • Original References(s): PMID:15322546 PMID:15467982 PMID:16155189 PMID:16199547 PMID:16453322 PMID:16541367 PMID:17377524 PMID:17409309 PMID:17576681 PMID:18054307 PMID:18414213 PMID:20301500 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:25525159 PMID:25616960 PMID:25640679 PMID:25741868 PMID:25920555 PMID:26035799 PMID:26035800 PMID:26092869 PMID:26467025 PMID:26541515 PMID:26729329 PMID:26759440 PMID:27434533 PMID:28041643 PMID:28097321 PMID:28118669 PMID:28125082 PMID:28431631 PMID:28442542 PMID:28492532 PMID:28497568 PMID:29186038 PMID:29343940 PMID:30055837 PMID:30755392 PMID:31319225 PMID:32335874 PMID:32865313 PMID:33921607 PMID:34191236 PMID:34205586 PMID:34627237 PMID:34906502 PMID:9536098


  • An association has been curated linking Ahi1 and Joubert syndrome 1 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]
  • 238 RGD objects have been annotated to Joubert syndrome 1  (DOID:0110980)
  • 19 papers in RGD have been used to annotate Ahi1
  • Curation Notes: ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
  • Original References(s): PMID:15322546 PMID:15467982 PMID:16155189 PMID:16199547 PMID:16453322 PMID:17409309 PMID:17576681 PMID:18054307 PMID:18414213 PMID:21068128 PMID:21623382 PMID:21866095 PMID:21937992 PMID:22236771 PMID:22693042 PMID:22773737 PMID:24033266 PMID:24690944 PMID:25326637 PMID:25356976 PMID:25525159 PMID:25616960 PMID:25640679 PMID:25741868 PMID:25920555 PMID:26035799 PMID:26035800 PMID:26092869 PMID:26467025 PMID:26729329 PMID:26759440 PMID:28041643 PMID:28118669 PMID:28431631 PMID:28442542 PMID:28492532 PMID:28497568 PMID:29186038 PMID:31319225 PMID:32865313 PMID:34906502 PMID:9536098


  • An association has been curated linking Ahi1 and Joubert syndrome 1 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]
  • 238 RGD objects have been annotated to Joubert syndrome 1  (DOID:0110980)
  • 19 papers in RGD have been used to annotate Ahi1
  • Curation Notes: ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome
  • Original References(s): PMID:15322546 PMID:15467982 PMID:16155189 PMID:16199547 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:25616960 PMID:25640679 PMID:25741868 PMID:25741913 PMID:25741916 PMID:25920555 PMID:26035799 PMID:26035800 PMID:26092869 PMID:26467025 PMID:26541515 PMID:26729329 PMID:26759440 PMID:27434533 PMID:28041643 PMID:28097321 PMID:28118669 PMID:28125082 PMID:28431631 PMID:28442542 PMID:28492532 PMID:28497568 PMID:29186038 PMID:29343940 PMID:30055837 PMID:30755392 PMID:31054281 PMID:31069529 PMID:31319225 PMID:31624253 PMID:32165824 PMID:32335874 PMID:32865313 PMID:33879512 PMID:33921607 PMID:34191236 PMID:34205586 PMID:34627237 PMID:34906502 PMID:36819107 PMID:9536098


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