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GENE - TERM ANNOTATION REPORT

RGD ID: 3531
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Raf1
Name: Raf-1 proto-oncogene, serine/threonine kinase
Acc ID: DOID:14291
Term: Noonan syndrome with multiple lentigines
Definition: A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#inheritance "DO" "DO", https://rarediseases.info.nih.gov/diseases/1100/leopard-syndrome "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Raf1 ISORAF1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:17603483
Raf1 ISORAF1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cardiomyopathic lentiginosis | ClinVar Annotator: match by term: Noonan syndrome with multiple lentiginesPMID:10064593 PMID:11447113 PMID:1760348 PMID:17603482 PMID:17603483 PMID:17603489 PMID:18241070 PMID:18505544 PMID:19568997 PMID:19933846 PMID:19953625 PMID:20052757 PMID:20301557 PMID:20679480 PMID:21339642 PMID:21440552 PMID:21784453 PMID:22389993 PMID:22826437 PMID:23312806 PMID:23321623 PMID:23877478 PMID:24033266 PMID:24775816 PMID:24803665 PMID:25706034 PMID:25741868 PMID:26619011 PMID:26918529 PMID:27631234 PMID:27753652 PMID:27763634 PMID:28492532 PMID:28777121 PMID:28973083 PMID:28991257 PMID:29084544 PMID:29493581 PMID:29907801 PMID:29948256 PMID:30055033 PMID:30105547 PMID:30138938 PMID:30384889 PMID:30417923 PMID:30732632 PMID:31324109 PMID:31395954 PMID:31560489 PMID:32410215 PMID:32506814 PMID:32573669 PMID:32668055 PMID:32981126 PMID:33240318 PMID:33318624 PMID:33673806 PMID:34006472 PMID:34136434 PMID:35050212
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