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GENE - TERM ANNOTATION REPORT

RGD ID: 12064306
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: SAMHD1
Name: SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
Acc ID: DOID:9007867
Term: Aicardi-Goutieres Syndrome 5
Definition: null
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)
SAMHD1 ISOSAMHD1 (Homo sapiens)7240710OMIM  
SAMHD1 ISOSAMHD1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 PMID:20358604 PMID:20653736 PMID:20842748 PMID:21102625 PMID:21204240 PMID:21402907 PMID:22174685 PMID:22461318 PMID:22691373 PMID:22973040 PMID:24033266 PMID:24035396 PMID:24183309 PMID:24300241 PMID:24316776 PMID:24989684 PMID:25604658 PMID:25640679 PMID:25741868 PMID:26273690 PMID:26431200 PMID:26467025 PMID:26504826 PMID:27604406 PMID:27643693 PMID:27943079 PMID:28229507 PMID:28454995 PMID:28492532 PMID:28851465 PMID:29239743 PMID:29379009 PMID:29758562 PMID:30275001 PMID:30487145 PMID:31130681 PMID:31797533 PMID:32371413 PMID:33683010 PMID:33857133 PMID:33967934 PMID:34492268 PMID:35590234 PMID:9536098
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