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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 C deficiency
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Accession:DOID:3756 term browser browse the term
Definition:A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14. (DO)
Synonyms:exact_synonym: Hereditary Thrombophilia Due To Protein C Deficiency;   Protein C Deficiencies
 primary_id: MESH:D020151
 xref: GARD:4521;   NCI:C99025;   ORDO:745
For additional species annotation, visit the Alliance of Genome Resources.



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protein C deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PROC protein C, inactivator of coagulation factors Va and VIIIa IAGP
EXP
DNA:missense mutations:cds:p.L223F, p.I403M (human)
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:missense mutation:exon:p.R87H (3203G>A) (human)
DNA:missense mutation:exon:p.A259T (8490G>A) (human)
CTD
RGD
PMID:14707701 PMID:18376272 PMID:21445774 PMID:33761690 PMID:8128429 More... RGD:1578392, RGD:11099985, RGD:11099984 NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242
JBrowse link
Acquired Protein C Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINE1 serpin family E member 1 ISO associated with Sepsis;protein:increased activity:lung (rat) RGD PMID:18182560 RGD:11080962 NCBI chr 7:101,127,104...101,139,247
Ensembl chr 7:101,127,104...101,139,247
JBrowse link
autosomal dominant thrombophilia due to protein C deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PROC protein C, inactivator of coagulation factors Va and VIIIa IAGP ClinVar Annotator: match by term: Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant
ClinVar
OMIM
PMID:1301954 PMID:1301959 PMID:1347608 PMID:1464619 PMID:1469096 More... NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242
JBrowse link
autosomal recessive thrombophilia due to protein C deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PROC protein C, inactivator of coagulation factors Va and VIIIa IAGP ClinVar Annotator: match by term: Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive
ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal recessive
ClinVar
OMIM
PMID:1347608 PMID:1347706 PMID:1348046 PMID:1511988 PMID:1593215 More... NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242
JBrowse link
Congenital Thrombotic Disease, due to Protein C Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PROC protein C, inactivator of coagulation factors Va and VIIIa EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Reduced protein C activity
CTD
ClinVar
PMID:1301954 PMID:1301959 PMID:1511988 PMID:1511989 PMID:1868249 More... NCBI chr 2:127,418,427...127,429,242
Ensembl chr 2:127,418,427...127,429,242
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22115
    disease of anatomical entity 20683
      hematopoietic system disease 3295
        blood protein disease 633
          protein C deficiency 2
            Acquired Protein C Deficiency 1
            Congenital Thrombotic Disease, due to Protein C Deficiency + 1
Path 2
Term Annotations click to browse term
  disease 22115
    Developmental Disease 16640
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 14376
        genetic disease 13728
          monogenic disease 10900
            autosomal genetic disease 9597
              autosomal dominant disease 6480
                protein C deficiency 2
                  Acquired Protein C Deficiency 1
                  Congenital Thrombotic Disease, due to Protein C Deficiency + 1
paths to the root