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 Chst14 and Ehlers-Danlos syndrome musculocontractural type 1 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 CHST14 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Ehlers-Danlos syndrome musculocontractural type 1  (DOID:0080736)
  • 9 papers in RGD have been used to annotate Chst14


    • An association has been curated linking Chst14 and Ehlers-Danlos syndrome musculocontractural type 1 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 CHST14 (Homo sapiens) [(EXP) inferred from experiment]
  • 1 RGD objects have been annotated to Ehlers-Danlos syndrome musculocontractural type 1  (DOID:0080736)
  • 9 papers in RGD have been used to annotate Chst14
  • Curation Notes: CTD Direct Evidence: marker/mechanism
  • Original References(s): PMID:20004762 PMID:20842734


    • An association has been curated linking Chst14 and Ehlers-Danlos syndrome musculocontractural type 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 CHST14 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 1 RGD objects have been annotated to Ehlers-Danlos syndrome musculocontractural type 1  (DOID:0080736)
  • 9 papers in RGD have been used to annotate Chst14
  • Curation Notes: ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, WITH PECULIAR FACIES AND HYDRONEPHROSIS | ClinVar Annotator: match by term: Adducted Thumb-Clubfoot Syndrome | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 1
  • Original References(s): PMID:10766984 PMID:11370633 PMID:1184396 PMID:12508273 PMID:16158441 PMID:20004762 PMID:20503305 PMID:20533528 PMID:20842734 PMID:21744491 PMID:2202212 PMID:22581468 PMID:25348902 PMID:25741868 PMID:26373698 PMID:26872206 PMID:26925854 PMID:28238810 PMID:28306225 PMID:28346368 PMID:28492532 PMID:31905796 PMID:32629534 PMID:34815299 PMID:35464846 PMID:9084938


    • An association has been curated linking Chst14 and Ehlers-Danlos syndrome musculocontractural type 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Janecke AR, etal., Am J Med Genet A. 2016 Jan;170(1):103-15. doi: 10.1002/ajmg.a.37383. Epub 2015 Sep 16.
  • The annotation has been inferred from sequence orthology with CHST14 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 24 additional annotations were made from Janecke AR, etal., Am J Med Genet A. 2016 Jan;170(1):103-15. doi: 10.1002/ajmg.a.37383. Epub 2015 Sep 16.
  • 1 RGD objects have been annotated to Ehlers-Danlos syndrome musculocontractural type 1  (DOID:0080736)
  • 9 papers in RGD have been used to annotate Chst14
  • Curation Notes: DNA:frameshift mutations, missense mutations:CDS:multiple (human)


    • An association has been curated linking Chst14 and Ehlers-Danlos syndrome musculocontractural type 1 in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Dündar M, etal., Am J Hum Genet. 2009 Dec;85(6):873-82. doi: 10.1016/j.ajhg.2009.11.010.
  • The annotation has been inferred from sequence orthology with CHST14 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 15 additional annotations were made from Dündar M, etal., Am J Hum Genet. 2009 Dec;85(6):873-82. doi: 10.1016/j.ajhg.2009.11.010.
  • 1 RGD objects have been annotated to Ehlers-Danlos syndrome musculocontractural type 1  (DOID:0080736)
  • 9 papers in RGD have been used to annotate Chst14
  • Curation Notes: DNA:missense mutations, deletion:CDS:multiple (human)


    • Go Back to source page   Continue to Ontology report