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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:25741868, PMID:25748729, 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 16096
    disease of anatomical entity 15346
      hematopoietic system disease 1641
        blood protein disease 288
          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 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5628
            autosomal genetic disease 4631
              autosomal dominant disease 2996
                protein C deficiency 2
                  Acquired Protein C Deficiency 1
                  Congenital Thrombotic Disease, due to Protein C Deficiency + 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.