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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 ISO DNA:missense mutations:cds:p.L223F, p.I403M (human)
ClinVar Annotator: match by term: Protein C deficiency
CTD Direct Evidence: marker/mechanism|therapeutic
DNA:missense mutation:exon:p.R87H (3203G>A) (human)
DNA:missense mutation:exon:p.A259T (8490G>A) (human)
ClinVar
CTD
PMID:1301954 PMID:1301959 PMID:1511988 PMID:1511989 PMID:2602169 PMID:3185623 PMID:7482420 PMID:7605880 PMID:8128429 PMID:8165644 PMID:8499565 PMID:8807339 PMID:9798967 PMID:10805275 PMID:10942114 PMID:14707701 PMID:18376272 PMID:18573519 PMID:18954896 PMID:21445774 PMID:22545135 PMID:22817391 PMID:22944127 PMID:23332921 PMID:23389250 PMID:24028705 PMID:24162787 PMID:25637381 PMID:25741868 PMID:28111891 PMID:28492532 PMID:31064749, PMID:8128429, PMID:8845458, PMID:11434940 RGD:1578392, RGD:11099985, RGD:11099984 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
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 IEP associated with Sepsis;protein:increased activity:lung (rat) RGD PMID:18182560 RGD:11080962 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
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 ISO ClinVar Annotator: match by term: Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant ClinVar
OMIM
PMID:1301954 PMID:1301959 PMID:1347608 PMID:1464619 PMID:1469096 PMID:1498334 PMID:1511988 PMID:1511989 PMID:1593215 PMID:1771629 PMID:1868249 PMID:2437584 PMID:2602169 PMID:2991887 PMID:3185623 PMID:6589623 PMID:7482420 PMID:7605880 PMID:7670104 PMID:7740502 PMID:7792728 PMID:7795150 PMID:7831652 PMID:7881411 PMID:7894031 PMID:8093743 PMID:8128429 PMID:8165644 PMID:8218861 PMID:8292730 PMID:8400292 PMID:8446940 PMID:8462980 PMID:8477066 PMID:8499565 PMID:8499568 PMID:8505327 PMID:8639775 PMID:8807339 PMID:9553065 PMID:9683579 PMID:9798967 PMID:9840027 PMID:10358041 PMID:10669160 PMID:10805275 PMID:10942114 PMID:11380450 PMID:14642106 PMID:16867987 PMID:17152060 PMID:17635713 PMID:18573519 PMID:18954896 PMID:19535131 PMID:20815936 PMID:21621249 PMID:21744130 PMID:21901152 PMID:22425321 PMID:22545135 PMID:22627591 PMID:22817391 PMID:22944127 PMID:23332921 PMID:23389250 PMID:24028705 PMID:24162787 PMID:24782131 PMID:25039884 PMID:25393254 PMID:25525159 PMID:25637381 PMID:25648792 PMID:25712501 PMID:25741868 PMID:25748729 PMID:27081530 PMID:27172833 PMID:27517348 PMID:28111891 PMID:28468828 PMID:28492532 PMID:28607330 PMID:29356699 PMID:31064749 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
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 ISO ClinVar Annotator: match by term: Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive
ClinVar Annotator: match by OMIM:612304
OMIM
ClinVar
PMID:1347608 PMID:1347706 PMID:1348046 PMID:1511988 PMID:1593215 PMID:1678832 PMID:1868249 PMID:3185623 PMID:7482420 PMID:8128429 PMID:8165644 PMID:10805275 PMID:10942114 PMID:17152060 PMID:18573519 PMID:18954896 PMID:19535131 PMID:20815936 PMID:21621249 PMID:21901152 PMID:24162787 PMID:25637381 PMID:25741868 PMID:28111891 PMID:28492532 PMID:28607330 PMID:31064749 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25748729 NCBI chr18:24,918,402...24,928,822
Ensembl chr18:24,918,398...24,929,091
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      hematopoietic system disease 1659
        blood protein disease 291
          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 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal dominant disease 3058
                protein C deficiency 2
                  Acquired Protein C Deficiency 1
                  Congenital Thrombotic Disease, due to Protein C Deficiency + 1
paths to the root