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GENE - TERM ANNOTATION REPORT

RGD ID: 1311594
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Adamts13
Name: ADAM metallopeptidase with thrombospondin type 1 motif, 13
Acc ID: DOID:10772
Term: thrombotic thrombocytopenic purpura
Definition: An acquired, congenital, or familial disorder caused by PLATELET AGGREGATION with THROMBOSIS in terminal arterioles and capillaries. Clinical features include THROMBOCYTOPENIA; HEMOLYTIC ANEMIA; AZOTEMIA; FEVER; and thrombotic microangiopathy. The classical form also includes neurological symptoms and end-organ damage, such as RENAL FAILURE.
Definition Source(s): MESH:D011697
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)
Adamts13 ISOADAMTS13 (Homo sapiens)1598736RGDDNA:mutations:multiple (human) 
Adamts13 ISOADAMTS13 (Homo sapiens)10449028RGDprotein:decreased activity:plasma (human) 
Adamts13 ISOADAMTS13 (Homo sapiens)10449043RGDAdult Onset Purpura, Thrombotic Thrombocytopenic;DNA:missense mutation:cds:p.R1060W (human) 
Adamts13 ISOAdamts13 (Mus musculus)10449037RGD  
Adamts13 ISOADAMTS13 (Homo sapiens)7240710OMIM  
Adamts13 ISOADAMTS13 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:12656756
Adamts13 ISOADAMTS13 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ADAMTS13-related condition | ClinVar Annotator: match by term: Thrombotic thrombocytopenic purpura | ClinVar Annotator: match by term: Upshaw-Schulman syndromePMID:11563771 PMID:11586351 PMID:12181489 PMID:12393505 PMID:12434890 PMID:12576319 PMID:12614216 PMID:12753286 PMID:14512317 PMID:14563640 PMID:14597993 PMID:15009458 PMID:15126318 PMID:15521921 PMID:15800115 PMID:16160007 PMID:16199547 PMID:16388417 PMID:16453338 PMID:16597588 PMID:16796708 PMID:16807643 PMID:17003922 PMID:17187257 PMID:17576681 PMID:17627784 PMID:17849048 PMID:1787257 PMID:18031293 PMID:18443791 PMID:18481107 PMID:18581589 PMID:18665921 PMID:19047683 PMID:19055667 PMID:19786614 PMID:19847791 PMID:20647566 PMID:20886194 PMID:21488199 PMID:21676167 PMID:21781265 PMID:22289888 PMID:22529288 PMID:22547583 PMID:22768050 PMID:22783805 PMID:23058857 PMID:23208954 PMID:23346910 PMID:23621748 PMID:23648131 PMID:23715102 PMID:23847193 PMID:23878316 PMID:24033266 PMID:24115559 PMID:24433405 PMID:24859360 PMID:24936513 PMID:25442981 PMID:25741868 PMID:25934476 PMID:26081109 PMID:26139087 PMID:26342041 PMID:26352112 PMID:26566785 PMID:27132698 PMID:27427187 PMID:27802307 PMID:28492532 PMID:28678087 PMID:28748566 PMID:28866379 PMID:29554699 PMID:29763513 PMID:30046676 PMID:30312976 PMID:30762934 PMID:30792199 PMID:31064749 PMID:31971692 PMID:31980526 PMID:32183147 PMID:32496441 PMID:34355501 PMID:35022991 PMID:6433703 PMID:7094941 PMID:9536098
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