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

19 Annotations Found.

An association has been curated linking POLR1C and hypomyelinating leukodystrophy 11 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:14698607 (Homo sapiens)
  • 2 RGD objects have been annotated to hypomyelinating leukodystrophy 11  (DOID:0060792)
  • 9 papers in RGD have been used to annotate POLR1C
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11
  • Original References(s): PMID:22855961 PMID:25741868 PMID:26151409 PMID:28492532 PMID:32042905 PMID:610060


    • An association has been curated linking POLR1C and hypomyelinating leukodystrophy 11 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:12791746 (Homo sapiens)
  • 2 RGD objects have been annotated to hypomyelinating leukodystrophy 11  (DOID:0060792)
  • 9 papers in RGD have been used to annotate POLR1C
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11


    • An association has been curated linking POLR1C and hypomyelinating leukodystrophy 11 in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from OMIM Disease Annotation Pipeline
  • 2 RGD objects have been annotated to hypomyelinating leukodystrophy 11  (DOID:0060792)
  • 9 papers in RGD have been used to annotate POLR1C


    • An association has been curated linking POLR1C and hypomyelinating leukodystrophy 11 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:10056677 (Homo sapiens)
  • 2 RGD objects have been annotated to hypomyelinating leukodystrophy 11  (DOID:0060792)
  • 9 papers in RGD have been used to annotate POLR1C
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11
  • Original References(s): PMID:22855961 PMID:25741868 PMID:26151409 PMID:29644095 PMID:31019026 PMID:33597727 PMID:33804237 PMID:33888711 PMID:34645491 PMID:610060


    • An association has been curated linking POLR1C and hypomyelinating leukodystrophy 11 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:8568604 (Homo sapiens)
  • 2 RGD objects have been annotated to hypomyelinating leukodystrophy 11  (DOID:0060792)
  • 9 papers in RGD have been used to annotate POLR1C
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11
  • Original References(s): PMID:21131976 PMID:25741868 PMID:610060


    • An association has been curated linking POLR1C and hypomyelinating leukodystrophy 11 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:12907312 (Homo sapiens)
  • 2 RGD objects have been annotated to hypomyelinating leukodystrophy 11  (DOID:0060792)
  • 9 papers in RGD have been used to annotate POLR1C
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11
  • Original References(s): PMID:21131976 PMID:25741868


    • An association has been curated linking POLR1C and hypomyelinating leukodystrophy 11 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:15137833 (Homo sapiens)
  • 2 RGD objects have been annotated to hypomyelinating leukodystrophy 11  (DOID:0060792)
  • 9 papers in RGD have been used to annotate POLR1C
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11
  • Original References(s): PMID:22563501 PMID:25741868 PMID:26467025 PMID:28492532


    • An association has been curated linking POLR1C and hypomyelinating leukodystrophy 11 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:11611067 (Homo sapiens)
  • 2 RGD objects have been annotated to hypomyelinating leukodystrophy 11  (DOID:0060792)
  • 9 papers in RGD have been used to annotate POLR1C
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11
  • Original References(s): PMID:22855961 PMID:25741868 PMID:26151409 PMID:28492532 PMID:30311386 PMID:32042905 PMID:33804237 PMID:610060


    • An association has been curated linking POLR1C and hypomyelinating leukodystrophy 11 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:10056672 (Homo sapiens)
  • 2 RGD objects have been annotated to hypomyelinating leukodystrophy 11  (DOID:0060792)
  • 9 papers in RGD have been used to annotate POLR1C
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11
  • Original References(s): PMID:22855961 PMID:25741868 PMID:26151409 PMID:28492532 PMID:30505682 PMID:33804237 PMID:610060


    • An association has been curated linking POLR1C and hypomyelinating leukodystrophy 11 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:12791770 (Homo sapiens)
  • 2 RGD objects have been annotated to hypomyelinating leukodystrophy 11  (DOID:0060792)
  • 9 papers in RGD have been used to annotate POLR1C
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11
  • Original References(s): PMID:25741868 PMID:28327206 PMID:32042905 PMID:610060


    • An association has been curated linking POLR1C and hypomyelinating leukodystrophy 11 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:8568600 (Homo sapiens)
  • 2 RGD objects have been annotated to hypomyelinating leukodystrophy 11  (DOID:0060792)
  • 9 papers in RGD have been used to annotate POLR1C
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11
  • Original References(s): PMID:11013442 PMID:21131976 PMID:25741868 PMID:26151409 PMID:28492532 PMID:29567474 PMID:30957429 PMID:32042905 PMID:33804237 PMID:610060


    • An association has been curated linking POLR1C and hypomyelinating leukodystrophy 11 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
  • 2 RGD objects have been annotated to hypomyelinating leukodystrophy 11  (DOID:0060792)
  • 9 papers in RGD have been used to annotate POLR1C
  • Curation Notes: CTD Direct Evidence: marker/mechanism


    • An association has been curated linking POLR1C and hypomyelinating leukodystrophy 11 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:150544831 (Homo sapiens)
  • 2 RGD objects have been annotated to hypomyelinating leukodystrophy 11  (DOID:0060792)
  • 9 papers in RGD have been used to annotate POLR1C
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking POLR1C and hypomyelinating leukodystrophy 11 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:10056673|RGD:10056674|RGD:10056676|RGD:11637701|RGD:14698600|RGD:14698609|RGD:14698614|RGD:14698618 (Homo sapiens) & RGD:10056673|RGD:10056674|RGD:10056676|RGD:11637701|RGD:14698600|RGD:14698609|RGD:14698614|RGD:14698618 (Homo sapiens) & RGD:10056673|RGD:10056674|RGD:10056676|RGD:11637701|RGD:14698600|RGD:14698609|RGD:14698614|RGD:14698618 (Homo sapiens) & RGD:10056673|RGD:10056674|RGD:10056676|RGD:11637701|RGD:14698600|RGD:14698609|RGD:14698614|RGD:14698618 (Homo sapiens) & RGD:10056673|RGD:10056674|RGD:10056676|RGD:11637701|RGD:14698600|RGD:14698609|RGD:14698614|RGD:14698618 (Homo sapiens) & RGD:10056673|RGD:10056674|RGD:10056676|RGD:11637701|RGD:14698600|RGD:14698609|RGD:14698614|RGD:14698618 (Homo sapiens) & RGD:10056673|RGD:10056674|RGD:10056676|RGD:11637701|RGD:14698600|RGD:14698609|RGD:14698614|RGD:14698618 (Homo sapiens) & RGD:10056673|RGD:10056674|RGD:10056676|RGD:11637701|RGD:14698600|RGD:14698609|RGD:14698614|RGD:14698618 (Homo sapiens)
  • 2 RGD objects have been annotated to hypomyelinating leukodystrophy 11  (DOID:0060792)
  • 9 papers in RGD have been used to annotate POLR1C
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11
  • Original References(s): PMID:22855961 PMID:25741868 PMID:26151409 PMID:610060


    • An association has been curated linking POLR1C and hypomyelinating leukodystrophy 11 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:14698603|RGD:14698613|RGD:14698616 (Homo sapiens) & RGD:14698603|RGD:14698613|RGD:14698616 (Homo sapiens) & RGD:14698603|RGD:14698613|RGD:14698616 (Homo sapiens)
  • 2 RGD objects have been annotated to hypomyelinating leukodystrophy 11  (DOID:0060792)
  • 9 papers in RGD have been used to annotate POLR1C
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11
  • Original References(s): PMID:25741868 PMID:28492532 PMID:32042905 PMID:610060


    • An association has been curated linking POLR1C and hypomyelinating leukodystrophy 11 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:10404602|RGD:11582225|RGD:11633790|RGD:14698599|RGD:14698601|RGD:14698604|RGD:14698606|RGD:14698610|RGD:14698612 (Homo sapiens) & RGD:10404602|RGD:11582225|RGD:11633790|RGD:14698599|RGD:14698601|RGD:14698604|RGD:14698606|RGD:14698610|RGD:14698612 (Homo sapiens) & RGD:10404602|RGD:11582225|RGD:11633790|RGD:14698599|RGD:14698601|RGD:14698604|RGD:14698606|RGD:14698610|RGD:14698612 (Homo sapiens) & RGD:10404602|RGD:11582225|RGD:11633790|RGD:14698599|RGD:14698601|RGD:14698604|RGD:14698606|RGD:14698610|RGD:14698612 (Homo sapiens) & RGD:10404602|RGD:11582225|RGD:11633790|RGD:14698599|RGD:14698601|RGD:14698604|RGD:14698606|RGD:14698610|RGD:14698612 (Homo sapiens) & RGD:10404602|RGD:11582225|RGD:11633790|RGD:14698599|RGD:14698601|RGD:14698604|RGD:14698606|RGD:14698610|RGD:14698612 (Homo sapiens) & RGD:10404602|RGD:11582225|RGD:11633790|RGD:14698599|RGD:14698601|RGD:14698604|RGD:14698606|RGD:14698610|RGD:14698612 (Homo sapiens) & RGD:10404602|RGD:11582225|RGD:11633790|RGD:14698599|RGD:14698601|RGD:14698604|RGD:14698606|RGD:14698610|RGD:14698612 (Homo sapiens) & RGD:10404602|RGD:11582225|RGD:11633790|RGD:14698599|RGD:14698601|RGD:14698604|RGD:14698606|RGD:14698610|RGD:14698612 (Homo sapiens)
  • 2 RGD objects have been annotated to hypomyelinating leukodystrophy 11  (DOID:0060792)
  • 9 papers in RGD have been used to annotate POLR1C
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11
  • Original References(s): PMID:25741868 PMID:610060


    • An association has been curated linking POLR1C and hypomyelinating leukodystrophy 11 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:14698615 (Homo sapiens)
  • 2 RGD objects have been annotated to hypomyelinating leukodystrophy 11  (DOID:0060792)
  • 9 papers in RGD have been used to annotate POLR1C
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11
  • Original References(s): PMID:25741868 PMID:28492532 PMID:30957429 PMID:32042905 PMID:610060


    • An association has been curated linking POLR1C and hypomyelinating leukodystrophy 11 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:152154759 (Homo sapiens)
  • 2 RGD objects have been annotated to hypomyelinating leukodystrophy 11  (DOID:0060792)
  • 9 papers in RGD have been used to annotate POLR1C
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11
  • Original References(s): PMID:21131976 PMID:25741868 PMID:26151409 PMID:28492532 PMID:32042905


    • An association has been curated linking POLR1C and hypomyelinating leukodystrophy 11 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:13528132|RGD:13704751|RGD:150556184|RGD:151731881|RGD:329952416|RGD:401855486|RGD:401855716|RGD:401919395|RGD:401940463 (Homo sapiens) & RGD:13528132|RGD:13704751|RGD:150556184|RGD:151731881|RGD:329952416|RGD:401855486|RGD:401855716|RGD:401919395|RGD:401940463 (Homo sapiens) & RGD:13528132|RGD:13704751|RGD:150556184|RGD:151731881|RGD:329952416|RGD:401855486|RGD:401855716|RGD:401919395|RGD:401940463 (Homo sapiens) & RGD:13528132|RGD:13704751|RGD:150556184|RGD:151731881|RGD:329952416|RGD:401855486|RGD:401855716|RGD:401919395|RGD:401940463 (Homo sapiens) & RGD:13528132|RGD:13704751|RGD:150556184|RGD:151731881|RGD:329952416|RGD:401855486|RGD:401855716|RGD:401919395|RGD:401940463 (Homo sapiens) & RGD:13528132|RGD:13704751|RGD:150556184|RGD:151731881|RGD:329952416|RGD:401855486|RGD:401855716|RGD:401919395|RGD:401940463 (Homo sapiens) & RGD:13528132|RGD:13704751|RGD:150556184|RGD:151731881|RGD:329952416|RGD:401855486|RGD:401855716|RGD:401919395|RGD:401940463 (Homo sapiens) & RGD:13528132|RGD:13704751|RGD:150556184|RGD:151731881|RGD:329952416|RGD:401855486|RGD:401855716|RGD:401919395|RGD:401940463 (Homo sapiens) & RGD:13528132|RGD:13704751|RGD:150556184|RGD:151731881|RGD:329952416|RGD:401855486|RGD:401855716|RGD:401919395|RGD:401940463 (Homo sapiens)
  • 2 RGD objects have been annotated to hypomyelinating leukodystrophy 11  (DOID:0060792)
  • 9 papers in RGD have been used to annotate POLR1C
  • Curation Notes: ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 11
  • Original References(s): PMID:25741868


    • Go Back to source page   Continue to Ontology report