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GENE - TERM ANNOTATION REPORT

RGD ID: 1323225
Species: Mus musculus
RGD Object: Gene
Symbol: Lrrc56
Name: leucine rich repeat containing 56
Acc ID: DOID:3490
Term: Noonan syndrome
Definition: A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/noonan-syndrome#definition "DO" "DO", https://rarediseases.info.nih.gov/diseases/10955/noonan-syndrome "DO" "DO", https://research.nhgri.nih.gov/atlas/condition/noonan-syndrome "DO" "DO", https://www.genome.gov/Genetic-Disorders/Noonan-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)
Lrrc56 ISOLRRC56 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndromePMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:168335863 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19669404 PMID:19773371 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22495892 PMID:22683711 PMID:23406027 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24224811 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26580448 PMID:26619011 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31775759 PMID:33372952 PMID:34008892
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