Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

GENE - TERM ANNOTATION REPORT

4 Annotations Found.

An association has been curated linking PRF1 and Chediak-Higashi syndrome in Chlorocebus sabaeus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with PRF1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 34 RGD objects have been annotated to Chediak-Higashi syndrome  (DOID:2935)
  • 0 papers in RGD have been used to annotate PRF1
  • Curation Notes: ClinVar Annotator: match by term: Autoinflammatory syndrome
  • Original References(s): PMID:10583959 PMID:11179007 PMID:1156555 PMID:11565555 PMID:11841437 PMID:12060139 PMID:12229880 PMID:12599189 PMID:12716377 PMID:14739222 PMID:14757862 PMID:15077010 PMID:15342365 PMID:15365097 PMID:15459303 PMID:15659737 PMID:15728124 PMID:15755277 PMID:15755897 PMID:16278825 PMID:16374518 PMID:16720836 PMID:16860143 PMID:17164654 PMID:17311987 PMID:17475905 PMID:17477373 PMID:17525286 PMID:17606450 PMID:17674359 PMID:17873118 PMID:18496551 PMID:18799942 PMID:18927437 PMID:19487666 PMID:20019066 PMID:20092789 PMID:20197201 PMID:21234777 PMID:21674762 PMID:21881043 PMID:22249210 PMID:22437823 PMID:22970278 PMID:23255033 PMID:23287865 PMID:23443029 PMID:23592409 PMID:24033266 PMID:24309606 PMID:24916509 PMID:25047945 PMID:25233452 PMID:25741868 PMID:25776844 PMID:25845254 PMID:25937001 PMID:26184781 PMID:26221353 PMID:26342526 PMID:26450956 PMID:26684649 PMID:26739415 PMID:27271812 PMID:27391055 PMID:27535533 PMID:28492532 PMID:29263817 PMID:29357941 PMID:29665027 PMID:31388699 PMID:31395954 PMID:31664448 PMID:32150605 PMID:32356861 PMID:32542393 PMID:32638196 PMID:33225392 PMID:33658321 PMID:33746956 PMID:34938098 PMID:7851014


  • An association has been curated linking PRF1 and Chediak-Higashi syndrome in Chlorocebus sabaeus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with PRF1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 34 RGD objects have been annotated to Chediak-Higashi syndrome  (DOID:2935)
  • 0 papers in RGD have been used to annotate PRF1
  • Curation Notes: ClinVar Annotator: match by term: Autoinflammatory syndrome
  • Original References(s): PMID:10583959 PMID:11179007 PMID:1156555 PMID:11565555 PMID:11841437 PMID:12060139 PMID:12229880 PMID:12599189 PMID:12716377 PMID:14739222 PMID:14757862 PMID:15077010 PMID:15342365 PMID:15365097 PMID:15459303 PMID:15659737 PMID:15728124 PMID:15755277 PMID:15755897 PMID:16278825 PMID:16374518 PMID:16720836 PMID:16860143 PMID:17164654 PMID:17311987 PMID:17475905 PMID:17477373 PMID:17525286 PMID:17606450 PMID:17674359 PMID:17873118 PMID:18496551 PMID:18799942 PMID:18927437 PMID:19487666 PMID:20019066 PMID:20092789 PMID:20197201 PMID:21234777 PMID:21674762 PMID:21881043 PMID:22249210 PMID:22437823 PMID:22970278 PMID:23255033 PMID:23287865 PMID:23443029 PMID:23592409 PMID:24033266 PMID:24309606 PMID:24916509 PMID:25047945 PMID:25233452 PMID:25741868 PMID:25741905 PMID:25776844 PMID:25845254 PMID:25937001 PMID:26184781 PMID:26221353 PMID:26342526 PMID:26450956 PMID:26684649 PMID:26739415 PMID:27271812 PMID:27391055 PMID:27535533 PMID:28492532 PMID:29263817 PMID:29357941 PMID:29665027 PMID:31388699 PMID:31395954 PMID:31664448 PMID:32150605 PMID:32356861 PMID:32542393 PMID:32638196 PMID:33225392 PMID:33658321 PMID:33746956 PMID:34938098 PMID:7851014


  • An association has been curated linking PRF1 and Chediak-Higashi syndrome in Chlorocebus sabaeus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with PRF1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 34 RGD objects have been annotated to Chediak-Higashi syndrome  (DOID:2935)
  • 0 papers in RGD have been used to annotate PRF1
  • Curation Notes: ClinVar Annotator: match by term: Autoinflammatory syndrome
  • Original References(s): PMID:10583959 PMID:11179007 PMID:1156555 PMID:11565555 PMID:12060139 PMID:12229880 PMID:12599189 PMID:14739222 PMID:14757862 PMID:15077010 PMID:15342365 PMID:15365097 PMID:15459303 PMID:15659737 PMID:15728124 PMID:15755277 PMID:15755897 PMID:16278825 PMID:16374518 PMID:16720836 PMID:16860143 PMID:17164654 PMID:17311987 PMID:17475905 PMID:17477373 PMID:17674359 PMID:17873118 PMID:18496551 PMID:18799942 PMID:18927437 PMID:19487666 PMID:20019066 PMID:20197201 PMID:21234777 PMID:21674762 PMID:21881043 PMID:22437823 PMID:22970278 PMID:23255033 PMID:23287865 PMID:23443029 PMID:23592409 PMID:24033266 PMID:24309606 PMID:24916509 PMID:25047945 PMID:25233452 PMID:25741868 PMID:25776844 PMID:25845254 PMID:25937001 PMID:26184781 PMID:26221353 PMID:26450956 PMID:26684649 PMID:27271812 PMID:27391055 PMID:27535533 PMID:28492532 PMID:29263817 PMID:29357941 PMID:31395954 PMID:31664448 PMID:32150605 PMID:32356861 PMID:32542393 PMID:32638196 PMID:33658321 PMID:33746956 PMID:34938098 PMID:7851014


  • An association has been curated linking PRF1 and Chediak-Higashi syndrome in Chlorocebus sabaeus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with PRF1 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 34 RGD objects have been annotated to Chediak-Higashi syndrome  (DOID:2935)
  • 0 papers in RGD have been used to annotate PRF1
  • Curation Notes: ClinVar Annotator: match by term: Autoinflammatory syndrome
  • Original References(s): PMID:10583959 PMID:11179007 PMID:1156555 PMID:11565555 PMID:12060139 PMID:12229880 PMID:12599189 PMID:12716377 PMID:14739222 PMID:14757862 PMID:15077010 PMID:15342365 PMID:15365097 PMID:15459303 PMID:15659737 PMID:15728124 PMID:15755277 PMID:15755897 PMID:16278825 PMID:16374518 PMID:16720836 PMID:16860143 PMID:17164654 PMID:17311987 PMID:17475905 PMID:17477373 PMID:17525286 PMID:17606450 PMID:17674359 PMID:17873118 PMID:18496551 PMID:18799942 PMID:18927437 PMID:19487666 PMID:20019066 PMID:20092789 PMID:20197201 PMID:21234777 PMID:21674762 PMID:21881043 PMID:22249210 PMID:22437823 PMID:22970278 PMID:23255033 PMID:23287865 PMID:23443029 PMID:23592409 PMID:24033266 PMID:24309606 PMID:24916509 PMID:25047945 PMID:25233452 PMID:25741868 PMID:25776844 PMID:25845254 PMID:25937001 PMID:26184781 PMID:26221353 PMID:26342526 PMID:26450956 PMID:26684649 PMID:26739415 PMID:27271812 PMID:27391055 PMID:27535533 PMID:28492532 PMID:29263817 PMID:29357941 PMID:29665027 PMID:31388699 PMID:31395954 PMID:31664448 PMID:32150605 PMID:32356861 PMID:32542393 PMID:32638196 PMID:33225392 PMID:33658321 PMID:33746956 PMID:34938098 PMID:7851014


  • Go Back to source page   Continue to Ontology report