Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking Pafah1b1 and lissencephaly in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Cardoso C, etal., Hum Mol Genet. 2000 Dec 12;9(20):3019-28.
  • The annotation has been inferred from sequence orthology with PAFAH1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Cardoso C, etal., Hum Mol Genet. 2000 Dec 12;9(20):3019-28.
  • 115 RGD objects have been annotated to lissencephaly  (DOID:0050453)
  • 30 papers in RGD have been used to annotate Pafah1b1
  • Qualifier: severity
  • Curation Notes: DNA:mutations::


    • An association has been curated linking Pafah1b1 and lissencephaly 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 PAFAH1B1 (Homo sapiens) [(EXP) inferred from experiment]
  • 115 RGD objects have been annotated to lissencephaly  (DOID:0050453)
  • 30 papers in RGD have been used to annotate Pafah1b1
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking Pafah1b1 and lissencephaly 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 Pafah1b1 (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
  • 115 RGD objects have been annotated to lissencephaly  (DOID:0050453)
  • 30 papers in RGD have been used to annotate Pafah1b1


    • An association has been curated linking Pafah1b1 and lissencephaly 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 PAFAH1B1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 115 RGD objects have been annotated to lissencephaly  (DOID:0050453)
  • 30 papers in RGD have been used to annotate Pafah1b1
  • Curation Notes: ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly
  • Original References(s): PMID:10441340 PMID:10583396 PMID:10727864 PMID:11115846 PMID:1115846 PMID:11502906 PMID:12885786 PMID:12885796 PMID:14581661 PMID:15007136 PMID:1671808 PMID:17576681 PMID:17664403 PMID:18414213 PMID:19667223 PMID:19808989 PMID:21410694 PMID:24088041 PMID:25140959 PMID:25326635 PMID:25741868 PMID:26494205 PMID:26633545 PMID:27891766 PMID:28492532 PMID:29671837 PMID:32238909 PMID:33176815 PMID:9063735 PMID:9147889 PMID:9536098 PMID:9817918 PMID:9860301


    • Go Back to source page   Continue to Ontology report