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

120 Annotations Found.

An association has been curated linking KIT and Piebald skin depigmentation 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:11551382 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:8604744 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:16307017 PMID:22703879 PMID:24728327 PMID:25741868 PMID:28492532 PMID:31775759


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11346275 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:20140688 PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11548612 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:10767594 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11350265 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:9686637 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25637381 PMID:27214377 PMID:28492532 PMID:7529964


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11350350 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:12886303 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:23020152 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11350369 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:13803860 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:9686636 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25637381 PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:8687892 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:24728327 PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11345974 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:26158763 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:12881712 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11348484 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11350141 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11347425 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:13474374 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:10767621 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11546339 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:8604746 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:22703879 PMID:27023146 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:13477356 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11583123 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:8604751 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:22703879 PMID:25176472 PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:10768034 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532 PMID:7529964


    • An association has been curated linking KIT and Piebald skin depigmentation 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:10768545 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:10768036 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Original References(s): OMIM:172800


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11349968 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:12888880 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:8604749 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:22703879 PMID:23020152 PMID:25637381 PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:26923127 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11350191 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:20140688 PMID:20205869 PMID:24205792 PMID:25079768 PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:12882850 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:13476493 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11347448 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:8604745 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:22703879 PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:8687885 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:10554798 PMID:11380399 PMID:16081693 PMID:17065430 PMID:20339585 PMID:23593539 PMID:24728327 PMID:25741868 PMID:27258816 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:12886755 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:12881615 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:12886130 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:13616833 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:13616970 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:13803328 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532 PMID:28724667 PMID:31350202


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11351611 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11589129 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:12889864 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:28492532 PMID:30019023


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11347795 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:8687890 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:24728327 PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11349521 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation in Homo sapiens.        

  • The association was inferred by association of genotype and phenotype (IAGP)
    		•  
  • The annotation was made from RGD automated import pipeline for human HPO-to-gene-to-disease annotations
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Original References(s): ORPHA:2884


    • An association has been curated linking KIT and Piebald skin depigmentation 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:12886451 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:10766981 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11349597 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:10767072 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11075131 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25637381 PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:28870113 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:401917744 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11588891 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11544648 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868


    • An association has been curated linking KIT and Piebald skin depigmentation 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:28877939 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:28903253 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:28878620 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11644346 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:28882815 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:26923211 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:14392894 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868


    • An association has been curated linking KIT and Piebald skin depigmentation 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:8563910 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:1370874 PMID:338655


    • An association has been curated linking KIT and Piebald skin depigmentation 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:8563926 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:11074500


    • An association has been curated linking KIT and Piebald skin depigmentation 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:243055748 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868


    • An association has been curated linking KIT and Piebald skin depigmentation 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:8563923 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:9699740


    • An association has been curated linking KIT and Piebald skin depigmentation 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:28883224 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:10766980 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:28878608 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:12880558 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:17525721 PMID:20890793 PMID:25975190 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11586277 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:151350387 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868


    • An association has been curated linking KIT and Piebald skin depigmentation 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:8563909 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:1370874


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11589638 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:28877944 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11646224 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:28903446 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:8563907 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:11074500 PMID:1370874 PMID:22670867 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:28874151 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11586738 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:28877929 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:8563911 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:1376329 PMID:1720553 PMID:24627108 PMID:28492532 PMID:32220041


    • An association has been curated linking KIT and Piebald skin depigmentation 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:28871428 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:28883216 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11585793 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:150520520 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:34008892


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11586757 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11653689 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:8563905 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:1370874 PMID:1717985


    • An association has been curated linking KIT and Piebald skin depigmentation 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:12886607 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:28882516 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11650872 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11587470 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:28869891 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:126747156 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:25741868 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11583901 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11588500 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11588664 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:28871203 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:28882507 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11585364 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:8563913 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:1384325 PMID:15194144 PMID:16199547 PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:28877597 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:28871431 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:28869894 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11647260 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:8563906 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:1376329


    • An association has been curated linking KIT and Piebald skin depigmentation 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:28883578 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11584911 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:28878614 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:28876245 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:28492532


    • An association has been curated linking KIT and Piebald skin depigmentation 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:8563912 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism
  • Original References(s): PMID:1384325


    • An association has been curated linking KIT and Piebald skin depigmentation 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:11649330 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • An association has been curated linking KIT and Piebald skin depigmentation 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:28878221 (Homo sapiens)
  • 2 RGD objects have been annotated to Piebald skin depigmentation  (HP:0007544)
  • 51 papers in RGD have been used to annotate KIT
  • Curation Notes: ClinVar Annotator: match by term: Piebaldism


    • Go Back to source page   Continue to Ontology report