Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:protein S deficiency
go back to main search page
Accession:DOID:2451 term browser browse the term
Definition:A thrombophilia that is characterized by increased risk of developing abnormal blood clots. (DO)
Synonyms:exact_synonym: hereditary thrombophilia due to protein S deficiency;   protein S deficiencies;   protein S deficiency disease
 primary_id: MESH:D018455
 xref: GARD:4524;   NCI:C99026
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
protein S deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl13b ARF like GTPase 13B ISO ClinVar Annotator: match by term: Protein S deficiency disease ClinVar PMID:32581362 NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197 		JBrowse link
G Nsun3 NOP2/Sun RNA methyltransferase 3 ISO ClinVar Annotator: match by term: Protein S deficiency disease ClinVar PMID:32581362 NCBI chr11:37,490,832...37,575,607
Ensembl chr11:37,490,838...37,568,543 		JBrowse link
G Pros1 protein S no_association ISO DNA:missense mutation:exon:p.S460P (human)
DNA:deletions, duplication:exon, intron
DNA:missense, nonsense, deletions: :multiple
DNA:SNPs: : c.1016T>A, c.1138A>C (human)
DNA:frameshift mutation:exon:c.1113T>G (human)
DNA:missense mutations, deletion: :multiple
ClinVar Annotator: match by term: Protein S deficiency disease		 ClinVar
RGD		 PMID:7579449 PMID:7803790 PMID:8943854 PMID:9031443 PMID:9241758 More... RGD:1599209, RGD:1578677, RGD:11250415, RGD:11250418, RGD:11250419, RGD:11250419, RGD:11251677, RGD:11251679 NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286 		JBrowse link
G Stx19 syntaxin 19 ISO ClinVar Annotator: match by term: Protein S deficiency disease ClinVar PMID:32581362 NCBI chr11:172,855...178,053
Ensembl chr11:171,395...179,191 		JBrowse link
G Tfpi tissue factor pathway inhibitor ISO protein:decreased expression:plasma: RGD PMID:23079294 PMID:20002538 RGD:11060129, RGD:11060140 NCBI chr 3:69,533,156...69,582,547
Ensembl chr 3:69,533,156...69,576,880 		JBrowse link
autosomal dominant thrombophilia due to protein S deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pros1 protein S ISO ClinVar Annotator: match by term: PROS1-related condition | ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1547381 PMID:2143091 PMID:2526663 PMID:7545463 PMID:7579448 More... NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286 		JBrowse link
autosomal recessive thrombophilia due to protein S deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl13b ARF like GTPase 13B ISO ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive ClinVar PMID:9241758 PMID:16363235 PMID:22627709 PMID:28492532 NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197 		JBrowse link
G Nsun3 NOP2/Sun RNA methyltransferase 3 ISO ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive ClinVar PMID:9241758 PMID:16363235 PMID:22627709 PMID:28492532 NCBI chr11:37,490,832...37,575,607
Ensembl chr11:37,490,838...37,568,543 		JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1547381 PMID:1671337 PMID:2143091 PMID:2231208 PMID:2521801 More... NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286 		JBrowse link
G Stx19 syntaxin 19 ISO ClinVar Annotator: match by term: Thrombophilia due to protein S deficiency, autosomal recessive ClinVar PMID:9241758 PMID:16363235 PMID:22627709 PMID:28492532 NCBI chr11:172,855...178,053
Ensembl chr11:171,395...179,191 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      hematopoietic system disease 3822
        blood protein disease 687
          protein S deficiency 5
            Acquired Protein S Deficiency 0
            autosomal dominant thrombophilia due to protein S deficiency 1
            autosomal recessive thrombophilia due to protein S deficiency 4
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      Hemic and Lymphatic Diseases 4332
        hematopoietic system disease 3822
          blood coagulation disease 1442
            thrombophilia 76
              protein S deficiency 5
                Acquired Protein S Deficiency 0
                autosomal dominant thrombophilia due to protein S deficiency 1
                autosomal recessive thrombophilia due to protein S deficiency 4
paths to the root