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

5 Annotations Found.

An association has been curated linking KIF1A and hereditary sensory neuropathy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Rivière JB, etal., Am J Hum Genet. 2011 Aug 12;89(2):219-30. doi: 10.1016/j.ajhg.2011.06.013. Epub 2011 Aug 4.
  • 2 additional annotations were made from Rivière JB, etal., Am J Hum Genet. 2011 Aug 12;89(2):219-30. doi: 10.1016/j.ajhg.2011.06.013. Epub 2011 Aug 4.
  • 100 RGD objects have been annotated to hereditary sensory neuropathy  (DOID:0050548)
  • 12 papers in RGD have been used to annotate KIF1A
  • Curation Notes: DNA:frameshift mutations:exon:p.Leu947Argfs¿¿¿4 (c.2840delT), p.Ser1758Glnfs¿¿¿7 (c.5271dupC) (human)


    • An association has been curated linking KIF1A and hereditary sensory neuropathy in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from Lee JR, etal., Hum Mutat. 2015 Jan;36(1):69-78. doi: 10.1002/humu.22709. Epub 2014 Nov 27.
  • 4 additional annotations were made from Lee JR, etal., Hum Mutat. 2015 Jan;36(1):69-78. doi: 10.1002/humu.22709. Epub 2014 Nov 27.
  • 100 RGD objects have been annotated to hereditary sensory neuropathy  (DOID:0050548)
  • 12 papers in RGD have been used to annotate KIF1A
  • Curation Notes: DNA:missense mutations: :multiple


    • An association has been curated linking KIF1A and hereditary sensory neuropathy 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:11523838|RGD:12837212|RGD:152061546 (Homo sapiens) & RGD:11523838|RGD:12837212|RGD:152061546 (Homo sapiens) & RGD:11523838|RGD:12837212|RGD:152061546 (Homo sapiens)
  • 100 RGD objects have been annotated to hereditary sensory neuropathy  (DOID:0050548)
  • 12 papers in RGD have been used to annotate KIF1A
  • Curation Notes: ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIF1A and hereditary sensory neuropathy 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:8573408 (Homo sapiens)
  • 100 RGD objects have been annotated to hereditary sensory neuropathy  (DOID:0050548)
  • 12 papers in RGD have been used to annotate KIF1A
  • Curation Notes: ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE
  • Original References(s): PMID:21820098 PMID:22258533 PMID:25265257 PMID:25741868 PMID:28492532 PMID:28970574 PMID:31616253


    • An association has been curated linking KIF1A and hereditary sensory neuropathy 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:11088479|RGD:13480438 (Homo sapiens) & RGD:11088479|RGD:13480438 (Homo sapiens)
  • 100 RGD objects have been annotated to hereditary sensory neuropathy  (DOID:0050548)
  • 12 papers in RGD have been used to annotate KIF1A
  • Curation Notes: ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE
  • Original References(s): PMID:25741868 PMID:26467025 PMID:28492532


    • Go Back to source page   Continue to Ontology report