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GENE - TERM ANNOTATION REPORT

9 Annotations Found.

An association has been curated linking IBA57 and hereditary spastic paraplegia 74 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:10054547 (Homo sapiens)
  • 1 RGD objects have been annotated to hereditary spastic paraplegia 74  (DOID:0110819)
  • 5 papers in RGD have been used to annotate IBA57
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spastic paraplegia 74
  • Original References(s): PMID:25609768


    • An association has been curated linking IBA57 and hereditary spastic paraplegia 74 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:151755802 (Homo sapiens)
  • 1 RGD objects have been annotated to hereditary spastic paraplegia 74  (DOID:0110819)
  • 5 papers in RGD have been used to annotate IBA57
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spastic paraplegia 74
  • Original References(s): PMID:25741868 PMID:28492532 PMID:28671726


    • An association has been curated linking IBA57 and hereditary spastic paraplegia 74 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 1 RGD objects have been annotated to hereditary spastic paraplegia 74  (DOID:0110819)
  • 5 papers in RGD have been used to annotate IBA57


    • An association has been curated linking IBA57 and hereditary spastic paraplegia 74 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:155741217 (Homo sapiens)
  • 1 RGD objects have been annotated to hereditary spastic paraplegia 74  (DOID:0110819)
  • 5 papers in RGD have been used to annotate IBA57
  • Curation Notes: ClinVar Annotator: match by term: Spastic paraplegia 74, autosomal recessive
  • Original References(s): PMID:23462291 PMID:28492532


    • An association has been curated linking IBA57 and hereditary spastic paraplegia 74 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:150528226 (Homo sapiens)
  • 1 RGD objects have been annotated to hereditary spastic paraplegia 74  (DOID:0110819)
  • 5 papers in RGD have been used to annotate IBA57
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spastic paraplegia 74
  • Original References(s): PMID:17576681 PMID:25741868 PMID:28492532 PMID:34906502 PMID:9536098


    • An association has been curated linking IBA57 and hereditary spastic paraplegia 74 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:150528227 (Homo sapiens)
  • 1 RGD objects have been annotated to hereditary spastic paraplegia 74  (DOID:0110819)
  • 5 papers in RGD have been used to annotate IBA57
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spastic paraplegia 74
  • Original References(s): PMID:23462291 PMID:25741868 PMID:25971455 PMID:27785568 PMID:28492532 PMID:28671726 PMID:30258207 PMID:34906502


    • An association has been curated linking IBA57 and hereditary spastic paraplegia 74 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
  • 1 RGD objects have been annotated to hereditary spastic paraplegia 74  (DOID:0110819)
  • 5 papers in RGD have been used to annotate IBA57
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking IBA57 and hereditary spastic paraplegia 74 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:12834613|RGD:12834754|RGD:12840679|RGD:12845136|RGD:13491579|RGD:13623835|RGD:15131118|RGD:15142729|RGD:151845556|RGD:152149121|RGD:156103300 (Homo sapiens) & RGD:12834613|RGD:12834754|RGD:12840679|RGD:12845136|RGD:13491579|RGD:13623835|RGD:15131118|RGD:15142729|RGD:151845556|RGD:152149121|RGD:156103300 (Homo sapiens) & RGD:12834613|RGD:12834754|RGD:12840679|RGD:12845136|RGD:13491579|RGD:13623835|RGD:15131118|RGD:15142729|RGD:151845556|RGD:152149121|RGD:156103300 (Homo sapiens) & RGD:12834613|RGD:12834754|RGD:12840679|RGD:12845136|RGD:13491579|RGD:13623835|RGD:15131118|RGD:15142729|RGD:151845556|RGD:152149121|RGD:156103300 (Homo sapiens) & RGD:12834613|RGD:12834754|RGD:12840679|RGD:12845136|RGD:13491579|RGD:13623835|RGD:15131118|RGD:15142729|RGD:151845556|RGD:152149121|RGD:156103300 (Homo sapiens) & RGD:12834613|RGD:12834754|RGD:12840679|RGD:12845136|RGD:13491579|RGD:13623835|RGD:15131118|RGD:15142729|RGD:151845556|RGD:152149121|RGD:156103300 (Homo sapiens) & RGD:12834613|RGD:12834754|RGD:12840679|RGD:12845136|RGD:13491579|RGD:13623835|RGD:15131118|RGD:15142729|RGD:151845556|RGD:152149121|RGD:156103300 (Homo sapiens) & RGD:12834613|RGD:12834754|RGD:12840679|RGD:12845136|RGD:13491579|RGD:13623835|RGD:15131118|RGD:15142729|RGD:151845556|RGD:152149121|RGD:156103300 (Homo sapiens) & RGD:12834613|RGD:12834754|RGD:12840679|RGD:12845136|RGD:13491579|RGD:13623835|RGD:15131118|RGD:15142729|RGD:151845556|RGD:152149121|RGD:156103300 (Homo sapiens) & RGD:12834613|RGD:12834754|RGD:12840679|RGD:12845136|RGD:13491579|RGD:13623835|RGD:15131118|RGD:15142729|RGD:151845556|RGD:152149121|RGD:156103300 (Homo sapiens) & RGD:12834613|RGD:12834754|RGD:12840679|RGD:12845136|RGD:13491579|RGD:13623835|RGD:15131118|RGD:15142729|RGD:151845556|RGD:152149121|RGD:156103300 (Homo sapiens)
  • 1 RGD objects have been annotated to hereditary spastic paraplegia 74  (DOID:0110819)
  • 5 papers in RGD have been used to annotate IBA57
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spastic paraplegia 74 | ClinVar Annotator: match by term: Spastic paraplegia 74, autosomal recessive
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking IBA57 and hereditary spastic paraplegia 74 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:126740625|RGD:401856210 (Homo sapiens) & RGD:126740625|RGD:401856210 (Homo sapiens)
  • 1 RGD objects have been annotated to hereditary spastic paraplegia 74  (DOID:0110819)
  • 5 papers in RGD have been used to annotate IBA57
  • Curation Notes: ClinVar Annotator: match by term: Hereditary spastic paraplegia 74
  • Original References(s): PMID:25741868


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