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ONTOLOGY REPORT - ANNOTATIONS


Term:Currarino syndrome
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Accession:DOID:0111546 term browser browse the term
Definition:A syndrome characterized by anorectal malformations, a presacral mass, and partial sacral agenesis with intact first sacral vertebra that has_material_basis_in heterozygous mutation in HLXB9 on chromosome 7q36.3. (DO)
Synonyms:exact_synonym: Currarino Triad
 narrow_synonym: CURRARINO TRIAD SACRAL AGENESIS SYNDROME;   SCRA1;   hereditary sacral agenesis with presacral mass, anterior meningocele, and/or teratoma, and anorectal malformation
 primary_id: MESH:C536221
 alt_id: DOID:9006461;   OMIM:176450
 xref: GARD:1626;   ORDO:1552
For additional species annotation, visit the Alliance of Genome Resources.


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Currarino syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcc5 ATP binding cassette subfamily C member 5 JBrowse link 11 84,395,982 84,490,215 RGD:8554872
G Abcf3 ATP binding cassette subfamily F member 3 JBrowse link 11 84,026,206 84,037,938 RGD:8554872
G Actl6a actin-like 6A JBrowse link 2 119,112,776 119,128,870 RGD:8554872
G Alg3 ALG3, alpha-1,3- mannosyltransferase JBrowse link 11 83,985,484 83,991,706 RGD:8554872
G Ap2m1 adaptor related protein complex 2 subunit mu 1 JBrowse link 11 84,041,184 84,047,542 RGD:8554872
G Atp11b ATPase phospholipid transporting 11B (putative) JBrowse link 2 122,337,757 122,445,090 RGD:8554872
G B3gnt5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 JBrowse link 11 84,919,055 84,931,160 RGD:8554872
G Camk2n2 calcium/calmodulin-dependent protein kinase II inhibitor 2 JBrowse link 11 83,975,430 83,976,557 RGD:8554872
G Ccdc39 coiled-coil domain containing 39 JBrowse link 2 120,278,605 120,367,829 RGD:8554872
G Chrd chordin JBrowse link 11 83,858,503 83,867,543 RGD:8554872
G Clcn2 chloride voltage-gated channel 2 JBrowse link 11 82,862,664 82,876,165 RGD:8554872
G Dcun1d1 defective in cullin neddylation 1 domain containing 1 JBrowse link 2 122,476,173 122,527,153 RGD:8554872
G Dnajc19 DnaJ heat shock protein family (Hsp40) member C19 JBrowse link 2 120,503,093 120,531,782 RGD:8554872
G Dvl3 dishevelled segment polarity protein 3 JBrowse link 11 84,051,177 84,068,479 RGD:8554872
G Ece2 endothelin-converting enzyme 2 JBrowse link 11 83,948,896 83,985,429 RGD:8554872
G Eef1akmt4 EEF1A lysine methyltransferase 4 JBrowse link 11 83,977,841 83,985,429 RGD:8554872
G Ehhadh enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase JBrowse link 11 82,945,104 82,978,364 RGD:8554872
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon JBrowse link 11 84,080,273 84,090,259 RGD:8554872
G Eif4g1 eukaryotic translation initiation factor 4 gamma, 1 JBrowse link 11 83,907,659 83,927,683 RGD:8554872
G Ephb3 Eph receptor B3 JBrowse link 11 83,527,960 83,546,742 RGD:8554872
G Fam131a family with sequence similarity 131, member A JBrowse link 11 83,897,330 83,907,292 RGD:8554872
G Fxr1 FMR1 autosomal homolog 1 JBrowse link 2 120,529,716 120,570,356 RGD:8554872
G Gnb4 G protein subunit beta 4 JBrowse link 2 118,978,965 119,007,877 RGD:8554872
G Igf2bp2 insulin-like growth factor 2 mRNA binding protein 2 JBrowse link 11 82,466,071 82,621,105 RGD:8554872
G Kcnmb2 potassium calcium-activated channel subfamily M regulatory beta subunit 2 JBrowse link 2 118,276,298 118,585,321 RGD:8554872
G Kcnmb3 potassium calcium-activated channel subfamily M regulatory beta subunit 3 JBrowse link 2 118,868,225 118,882,562 RGD:8554872
G Klhl24 kelch-like family member 24 JBrowse link 11 84,613,101 84,643,674 RGD:8554872
G Klhl6 kelch-like family member 6 JBrowse link 11 84,745,958 84,785,315 RGD:8554872
G Lamp3 lysosomal-associated membrane protein 3 JBrowse link 11 84,930,965 85,000,694 RGD:8554872
G Liph lipase H JBrowse link 11 82,680,167 82,732,145 RGD:8554872
G Map3k13 mitogen-activated protein kinase kinase kinase 13 JBrowse link 11 82,744,391 82,938,357 RGD:8554872
G Map6d1 MAP6 domain containing 1 JBrowse link 11 84,321,078 84,327,307 RGD:8554872
G Mccc1 methylcrotonoyl-CoA carboxylase 1 JBrowse link 2 122,550,777 122,690,540 RGD:8554872
G Mfn1 mitofusin 1 JBrowse link 2 118,929,738 118,971,689 RGD:8554872
G Mir1224 microRNA 1224 JBrowse link 11 83,992,628 83,992,712 RGD:8554872
G Mnx1 motor neuron and pancreas homeobox 1 JBrowse link 4 2,376,350 2,381,308 RGD:7240710
RGD:8554872
G Mrpl47 mitochondrial ribosomal protein L47 JBrowse link 2 119,128,311 119,139,451 RGD:8554872
G Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 JBrowse link 2 119,139,717 119,153,753 RGD:8554872
G Parl presenilin associated, rhomboid-like JBrowse link 11 84,517,368 84,544,463 RGD:8554872
G Pcsk5 proprotein convertase subtilisin/kexin type 5 JBrowse link 1 236,031,988 236,313,858 RGD:11554173
G Pex5l peroxisomal biogenesis factor 5-like JBrowse link 2 119,330,330 119,405,809 RGD:8554872
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:8554872
G Polr2h RNA polymerase II subunit H JBrowse link 11 83,877,760 83,882,208 RGD:8554872
G Psmd2 proteasome 26S subunit, non-ATPase 2 JBrowse link 11 83,934,098 83,944,725 RGD:8554872
G RGD1562339 RGD1562339 JBrowse link 11 83,048,441 83,098,649 RGD:8554872
G Senp2 SUMO specific peptidase 2 JBrowse link 11 82,627,973 82,664,702 RGD:8554872
G Sox2 SRY-box transcription factor 2 JBrowse link 2 121,165,137 121,167,545 RGD:8554872
G Thpo thrombopoietin JBrowse link 11 82,845,676 82,853,439 RGD:8554872
G Tmem41a transmembrane protein 41a JBrowse link 11 82,734,525 82,741,177 RGD:8554872
G Ttc14 tetratricopeptide repeat domain 14 JBrowse link 2 120,266,883 120,277,505 RGD:8554872
G Usp13 ubiquitin specific peptidase 13 JBrowse link 2 119,197,153 119,317,507 RGD:8554872
G Vps8 VPS8 subunit of CORVET complex JBrowse link 11 83,104,912 83,323,606 RGD:8554872
G Vwa5b2 von Willebrand factor A domain containing 5B2 JBrowse link 11 83,991,793 84,008,946 RGD:8554872
G Yeats2 YEATS domain containing 2 JBrowse link 11 84,330,064 84,595,296 RGD:8554872
G Zfp639 zinc finger protein 639 JBrowse link 2 118,906,479 118,917,491 RGD:8554872
G Zmat3 zinc finger, matrin type 3 JBrowse link 2 118,715,229 118,746,109 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15610
    syndrome 5800
      Currarino syndrome 56
Path 2
Term Annotations click to browse term
  disease 15610
    Developmental Diseases 8988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7804
        genetic disease 7299
          monogenic disease 5000
            autosomal genetic disease 3981
              autosomal dominant disease 2422
                Currarino syndrome 56
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.