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GENE - TERM ANNOTATION REPORT

RGD ID: 620971
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Pros1
Name: protein S
Acc ID: DOID:0111900
Term: autosomal dominant thrombophilia due to protein S deficiency
Definition: A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROS1 gene on chromosome 3q11.1. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/6239102/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/7545463/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/7780139/ "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)7240710OMIM  
Pros1 ISOPROS1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Pros1 ISOPROS1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: PROS1-related condition | ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal dominantPMID:10063989 PMID:10447256 PMID:10456456 PMID:10669162 PMID:10706858 PMID:10790208 PMID:10811787 PMID:10887114 PMID:11127877 PMID:11858485 PMID:12351389 PMID:12960605 PMID:15147381 PMID:15175796 PMID:15238143 PMID:1547381 PMID:15712227 PMID:15978566 PMID:16100035 PMID:16199547 PMID:16461766 PMID:16953283 PMID:16961607 PMID:16961608 PMID:17157360 PMID:17576681 PMID:18322254 PMID:18435454 PMID:18841302 PMID:18954896 PMID:19826897 PMID:20811787 PMID:20880255 PMID:21172841 PMID:21285903 PMID:2143091 PMID:21486865 PMID:21764424 PMID:21764702 PMID:21811774 PMID:22166512 PMID:22261441 PMID:22273984 PMID:22627591 PMID:22951146 PMID:23813890 PMID:24014240 PMID:24033266 PMID:24055113 PMID:24119292 PMID:24162787 PMID:24233386 PMID:24365770 PMID:2526663 PMID:25272994 PMID:25525159 PMID:25637381 PMID:25741868 PMID:26046366 PMID:26251307 PMID:26466767 PMID:26985940 PMID:27652279 PMID:27660039 PMID:27667277 PMID:27748013 PMID:27838551 PMID:28174134 PMID:28374852 PMID:28492532 PMID:28607330 PMID:29225857 PMID:29321366 PMID:29748776 PMID:29883906 PMID:30349894 PMID:30543986 PMID:30669159 PMID:31064749 PMID:31068512 PMID:31335064 PMID:32964666 PMID:34355501 PMID:34426522 PMID:34729451 PMID:35815065 PMID:36034607 PMID:37647632 PMID:7545463 PMID:7579448 PMID:7579449 PMID:7803790 PMID:8113388 PMID:8298131 PMID:8765219 PMID:8781426 PMID:8865520 PMID:8943854 PMID:9241758 PMID:9536098 PMID:9651142 PMID:9657428
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