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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:autosomal dominant thrombophilia due to protein C deficiency
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Accession:DOID:0111909 term browser browse the term
Definition:A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3. (DO)
Synonyms:exact_synonym: HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN C DEFICIENCY;   Hereditary Thrombophilia, due To Protein C Deficiency, Autosomal Dominant;   PROC Deficiency, Autosomal Dominant;   THPH3;   protein C deficiency, autosomal dominant
 related_synonym: PROC DEFICIENCY, AUTOSOMAL DOMINANT PROTEIN C DEFICIENCY, ACQUIRED
 primary_id: MESH:C567163
 alt_id: OMIM:176860


show annotations for term's descendants           Sort by:
autosomal dominant thrombophilia due to protein C deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMMECR1L AMMECR1 like IAGP ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr 2:127,861,630...127,885,956
Ensembl chr 2:127,861,630...127,885,967 		JBrowse link
G BIN1 bridging integrator 1 IAGP ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288 		JBrowse link
G CYP27C1 cytochrome P450 family 27 subfamily C member 1 IAGP ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr 2:127,183,832...127,220,299
Ensembl chr 2:127,183,832...127,220,313 		JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166 		JBrowse link
G GPR17 G protein-coupled receptor 17 IAGP ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr 2:127,646,153...127,652,639
Ensembl chr 2:127,645,864...127,652,639 		JBrowse link
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868 		JBrowse link
G IWS1 interacts with SUPT6H, CTD assembly factor 1 IAGP ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr 2:127,480,812...127,527,336
Ensembl chr 2:127,436,207...127,526,886 		JBrowse link
G LIMS2 LIM zinc finger domain containing 2 IAGP ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr 2:127,638,426...127,681,786
Ensembl chr 2:127,638,381...127,681,786 		JBrowse link
G MAP3K2 mitogen-activated protein kinase kinase kinase 2 IAGP ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr 2:127,298,668...127,388,465
Ensembl chr 2:127,298,668...127,388,465 		JBrowse link
G MYO7B myosin VIIB IAGP ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr 2:127,535,683...127,637,726
Ensembl chr 2:127,535,683...127,637,729 		JBrowse link
G POLR2D RNA polymerase II subunit D IAGP ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr 2:127,843,553...127,858,155
Ensembl chr 2:127,843,553...127,858,155 		JBrowse link
G PROC protein C, inactivator of coagulation factors Va and VIIIa IAGP ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant
ClinVar Annotator: match by term: Hereditary thrombophilia due to congenital protein C deficiency		 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
G SAP130 Sin3A associated protein 130 IAGP ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr 2:127,941,222...128,028,059
Ensembl chr 2:127,941,217...128,028,120 		JBrowse link
G SFT2D3 SFT2 domain containing 3 IAGP ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr 2:127,701,497...127,705,242
Ensembl chr 2:127,701,497...127,705,242 		JBrowse link
G UGGT1 UDP-glucose glycoprotein glucosyltransferase 1 IAGP ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr 2:128,091,200...128,195,677
Ensembl chr 2:128,091,200...128,195,677 		JBrowse link
G WDR33 WD repeat domain 33 IAGP ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant ClinVar PMID:3185623 PMID:17152060 PMID:28492532 NCBI chr 2:127,701,027...127,811,171
Ensembl chr 2:127,701,027...127,811,187 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      hematopoietic system disease 4988
        blood protein disease 996
          protein C deficiency 17
            Congenital Thrombotic Disease, due to Protein C Deficiency 16
              autosomal dominant thrombophilia due to protein C deficiency 16
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          monogenic disease 18511
            autosomal genetic disease 16781
              autosomal dominant disease 10884
                protein C deficiency 17
                  Congenital Thrombotic Disease, due to Protein C Deficiency 16
                    autosomal dominant thrombophilia due to protein C deficiency 16
paths to the root