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GENE - TERM ANNOTATION REPORT

RGD ID: 1563567
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Was
Name: WASP actin nucleation promoting factor
Acc ID: DOID:9169
Term: Wiskott-Aldrich syndrome
Definition: A syndrome that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia). (DO)
Definition Source(s): https://ghr.nlm.nih.gov/condition/wiskott-aldrich-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)
Was ISOWAS (Homo sapiens)1599803RGD  
Was ISOWAS (Homo sapiens)7240710OMIM  
Was ISOWAS (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:11598004
Was ISOWAS (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Aldrich syndrome | ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome, attenuatedPMID:10202051 PMID:10447259 PMID:10449748 PMID:10653325 PMID:10691337 PMID:10737997 PMID:11242115 PMID:11298372 PMID:11442475 PMID:11745360 PMID:11793485 PMID:12073025 PMID:12199801 PMID:12351383 PMID:12437929 PMID:12727931 PMID:12969986 PMID:14504083 PMID:14566484 PMID:14612666 PMID:15284122 PMID:15497008 PMID:16091449 PMID:16199547 PMID:16511828 PMID:16638962 PMID:16804117 PMID:17065640 PMID:17213309 PMID:17250667 PMID:17390083 PMID:17400488 PMID:17576681 PMID:17703096 PMID:18162713 PMID:19006568 PMID:19308710 PMID:19817875 PMID:19863535 PMID:20173115 PMID:20232122 PMID:20513746 PMID:20546529 PMID:20959042 PMID:21185603 PMID:21710275 PMID:21771083 PMID:22038941 PMID:22426750 PMID:22523910 PMID:22679904 PMID:23023736 PMID:23033889 PMID:23527602 PMID:23689198 PMID:24210885 PMID:24728327 PMID:25091438 PMID:25332606 PMID:25741868 PMID:25792466 PMID:25862925 PMID:25931402 PMID:27566838 PMID:27885891 PMID:27993330 PMID:28492532 PMID:28748566 PMID:2906042 PMID:30981783 PMID:31352750 PMID:31965297 PMID:32812413 PMID:3284030 PMID:33225392 PMID:34355501 PMID:35729272 PMID:35874699 PMID:7579329 PMID:7579347 PMID:7735919 PMID:7753869 PMID:7795648 PMID:8069912 PMID:8528198 PMID:8528199 PMID:8595430 PMID:8673127 PMID:8682510 PMID:8743175 PMID:8931701 PMID:9126958 PMID:9326235 PMID:9536098 PMID:9657775
Was ISSWas (Mus musculus)13592920MouseDOOMIM:301000 
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