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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:factor X deficiency
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Accession:DOID:2222 term browser browse the term
Definition:A blood coagulation disease that is characterized by the partial or complete absence of factor X activity in the blood. (DO)
Synonyms:exact_synonym: F10 deficiency;   Stuart Prower factor deficiency;   Stuart-Prower deficiency;   Stuart-Prower disease;   congenital Stuart factor deficiency;   congenital factor X deficiency;   factor X deficiencies
 primary_id: MESH:D005171
 alt_id: MIM:227600
 xref: GARD:6404;   NCI:C131632;   ORDO:328
For additional species annotation, visit the Alliance of Genome Resources.

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factor X deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adprhl1 ADP-ribosylhydrolase like 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:597,391...610,426
Ensembl chrNW_004624793:597,504...610,847 		JBrowse link
G Ankrd10 ankyrin repeat domain 10 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:2,046,796...2,072,603
Ensembl chrNW_004624793:2,046,912...2,071,784 		JBrowse link
G Arhgef7 Rho guanine nucleotide exchange factor 7 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:1,880,681...1,995,604
Ensembl chrNW_004624793:1,880,382...1,995,610 		JBrowse link
G Atp11a ATPase phospholipid transporting 11A ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:904,320...998,413
Ensembl chrNW_004624793:903,847...998,436 		JBrowse link
G Atp4b ATPase H+/K+ transporting subunit beta ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:472,241...479,753
Ensembl chrNW_004624793:472,241...479,753 		JBrowse link
G Cars2 cysteinyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:2,126,304...2,148,619
Ensembl chrNW_004624793:2,130,608...2,148,519 		JBrowse link
G Cdc16 cell division cycle 16 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:151,508...186,342 JBrowse link
G Champ1 chromosome alignment maintaining phosphoprotein 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:109,854...121,461
Ensembl chrNW_004624793:111,025...113,526 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:2,325,104...2,426,814
Ensembl chrNW_004624793:2,325,128...2,426,817 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:2,201,815...2,325,002
Ensembl chrNW_004624793:2,202,244...2,324,507 		JBrowse link
G Cul4a cullin 4A ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:686,720...722,516
Ensembl chrNW_004624793:688,135...722,490 		JBrowse link
G CUNH13orf46 chromosome unknown C13orf46 homolog ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:338,511...348,244 JBrowse link
G Dcun1d2 defective in cullin neddylation 1 domain containing 2 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:565,690...596,175
Ensembl chrNW_004624793:565,681...596,260 		JBrowse link
G F10 coagulation factor X ISO ClinVar Annotator: match by term: Congenital factor X deficiency | ClinVar Annotator: match by term: F10 DEFICIENCY | ClinVar Annotator: match by term: Factor X deficiency | ClinVar Annotator: match by term: STUART-PROWER FACTOR DEFICIENCY OMIM
ClinVar		 PMID:1939653 PMID:1973167 PMID:1985698 PMID:2790181 PMID:3408671 More... NCBI chrNW_004624793:762,306...777,511
Ensembl chrNW_004624793:762,330...778,282 		JBrowse link
G F11 coagulation factor XI ISO ClinVar Annotator: match by term: Congenital factor X deficiency ClinVar PMID:25741868 PMID:31064749 NCBI chrNW_004624769:17,093,643...17,115,716
Ensembl chrNW_004624769:17,094,169...17,115,222 		JBrowse link
G F7 coagulation factor VII ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:10984565 PMID:12181036 PMID:25741868 PMID:34355501 NCBI chrNW_004624793:780,057...788,105
Ensembl chrNW_004624793:780,059...788,095 		JBrowse link
G Gas6 growth arrest specific 6 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:385,846...410,934
Ensembl chrNW_004624793:385,812...410,934 		JBrowse link
G Grk1 G protein-coupled receptor kinase 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:453,125...462,053
Ensembl chrNW_004624793:453,125...462,053 		JBrowse link
G Grtp1 growth hormone regulated TBC protein 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:640,063...660,002
Ensembl chrNW_004624793:640,017...659,939 		JBrowse link
G Ing1 inhibitor of growth family member 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:2,121,290...2,126,573
Ensembl chrNW_004624793:2,121,290...2,125,598 		JBrowse link
G Irs2 insulin receptor substrate 2 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:2,615,092...2,636,835
Ensembl chrNW_004624793:2,614,589...2,636,947 		JBrowse link
G Lamp1 lysosomal associated membrane protein 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:661,322...675,603
Ensembl chrNW_004624793:661,342...675,675 		JBrowse link
G Mcf2l MCF.2 cell line derived transforming sequence like ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:794,435...900,033
Ensembl chrNW_004624793:794,435...894,963 		JBrowse link
G Myo16 myosin XVI ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:2,956,643...3,399,949 JBrowse link
G Naxd NAD(P)HX dehydratase ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:2,149,647...2,164,928
Ensembl chrNW_004624793:2,150,798...2,165,016 		JBrowse link
G Pcid2 PCI domain containing 2 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:722,743...744,824
Ensembl chrNW_004624793:722,762...744,743 		JBrowse link
G Proz protein Z, vitamin K dependent plasma glycoprotein ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:745,490...757,886
Ensembl chrNW_004624793:745,579...755,059 		JBrowse link
G Rab20 RAB20, member RAS oncogene family ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:2,180,803...2,199,420
Ensembl chrNW_004624793:2,180,419...2,198,962 		JBrowse link
G Rasa3 RAS p21 protein activator 3 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:209,616...336,304
Ensembl chrNW_004624793:257,661...334,981 		JBrowse link
G Sox1 SRY-box transcription factor 1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:1,341,643...1,648,168
Ensembl chrNW_004624793:1,370,243...1,371,358 		JBrowse link
G Tfdp1 transcription factor Dp-1 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:481,791...515,142
Ensembl chrNW_004624793:481,687...515,228 		JBrowse link
G Tmco3 transmembrane and coiled-coil domains 3 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:518,153...565,608
Ensembl chrNW_004624793:520,036...565,601 		JBrowse link
G Tmem255b transmembrane protein 255B ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:420,887...441,647
Ensembl chrNW_004624793:421,981...441,615 		JBrowse link
G Tubgcp3 tubulin gamma complex component 3 ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:1,066,746...1,123,944
Ensembl chrNW_004624793:1,066,697...1,123,038 		JBrowse link
G Upf3a UPF3A regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Factor X deficiency ClinVar PMID:25741868 PMID:34355501 NCBI chrNW_004624793:134,607...151,730
Ensembl chrNW_004624793:136,642...151,692 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14208
    disease of anatomical entity 13924
      hematopoietic system disease 3329
        blood coagulation disease 1266
          Inherited Blood Coagulation Disease 612
            factor X deficiency 35
Path 2
Term Annotations click to browse term
  disease 14208
    Developmental Disease 12477
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11716
        genetic disease 11437
          monogenic disease 9796
            autosomal genetic disease 9397
              autosomal recessive disease 6450
                factor X deficiency 35
paths to the root