Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 blood protein disease 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 ADP-ribosylation factor 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 ClinVar Annotator: match by term: Protein S deficiency disease
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
RGD
PMID:7579449 PMID:7803790 PMID:8943854 PMID:9241758 PMID:9536098 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: Thrombophilia due to protein S deficiency, autosomal dominant OMIM
ClinVar
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 ADP-ribosylation factor 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 OMIM
ClinVar
PMID:1547381 PMID:1671337 PMID:2143091 PMID:2231208 PMID:2526663 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 18030
    disease of anatomical entity 17410
      hematopoietic system disease 2693
        blood protein disease 489
          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 18030
    disease of anatomical entity 17410
      Hemic and Lymphatic Diseases 3149
        hematopoietic system disease 2693
          blood coagulation disease 831
            thrombophilia 60
              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