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GENE - TERM ANNOTATION REPORT

RGD ID: 1550610
Species: Mus musculus
RGD Object: Gene
Symbol: Pros1
Name: protein S (alpha)
Acc ID: DOID:2451
Term: protein S deficiency
Definition: A thrombophilia that is characterized by increased risk of developing abnormal blood clots. (DO)
Definition Source(s): https://medlineplus.gov/genetics/condition/protein-s-deficiency/ "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)
Pros1 ISOPROS1 (Homo sapiens)1578677RGD  
Pros1 ISOPROS1 (Homo sapiens)1599209RGD  
Pros1 ISOPROS1 (Homo sapiens)11250415RGDDNA:missense mutation:exon:p.S460P (human) 
Pros1 ISOPROS1 (Homo sapiens)11250418RGDDNA:deletions, duplication:exon, intron 
Pros1 ISOPROS1 (Homo sapiens)11250419RGDDNA:missense, nonsense, deletions: :multiple 
Pros1 ISOPROS1 (Homo sapiens)11251677RGDDNA:frameshift mutation:exon:c.1113T>G (human) 
Pros1 ISOPROS1 (Homo sapiens)11251679RGDDNA:missense mutations, deletion: :multiple 
Pros1no_associationISOPROS1 (Homo sapiens)11250419RGDDNA:SNPs: : c.1016T>A, c.1138A>C (human) 
Pros1 ISOPROS1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Protein S deficiency diseasePMID:10447256 PMID:10706858 PMID:10790208 PMID:11127877 PMID:11858485 PMID:12351389 PMID:15712227 PMID:17576681 PMID:18322254 PMID:20880255 PMID:22166512 PMID:22261441 PMID:22951146 PMID:23813890 PMID:24014240 PMID:24055113 PMID:25272994 PMID:25637381 PMID:25741868 PMID:26466767 PMID:27652279 PMID:28492532 PMID:29321366 PMID:29748776 PMID:30543986 PMID:30669159 PMID:31064749 PMID:32581362 PMID:32964666 PMID:34355501 PMID:7579449 PMID:7803790 PMID:8943854 PMID:9031443 PMID:9241758 PMID:9536098
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