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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 13 121,868,614 121,957,901 RGD:9068941
G ABCF3 ATP binding cassette subfamily F member 3 JBrowse link 13 122,102,939 122,112,896 RGD:9068941
G ACTL6A actin like 6A JBrowse link 13 117,598,415 117,627,311 RGD:9068941
G ALG3 ALG3 alpha-1,3- mannosyltransferase JBrowse link 13 122,142,044 122,148,777 RGD:9068941
G AP2M1 adaptor related protein complex 2 subunit mu 1 JBrowse link 13 122,094,375 122,103,408 RGD:9068941
G ATP11B ATPase phospholipid transporting 11B (putative) JBrowse link 13 120,727,633 120,873,907 RGD:9068941
G B3GNT5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 JBrowse link 13 121,205,070 121,222,997 RGD:9068941
G C13H3orf70 chromosome 13 C3orf70 homolog JBrowse link 13 122,958,339 123,058,988 RGD:9068941
G CAMK2N2 calcium/calmodulin dependent protein kinase II inhibitor 2 JBrowse link 13 122,156,080 122,158,396 RGD:9068941
G CCDC39 coiled-coil domain containing 39 JBrowse link 13 118,623,787 118,773,205 RGD:9068941
G CHRD chordin JBrowse link 13 122,266,632 122,277,513 RGD:9068941
G CLCN2 chloride voltage-gated channel 2 JBrowse link 13 122,234,731 122,249,889 RGD:9068941
G DCUN1D1 defective in cullin neddylation 1 domain containing 1 JBrowse link 13 120,914,001 120,950,825 RGD:9068941
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 JBrowse link 13 118,907,299 118,913,270 RGD:9068941
G DVL3 dishevelled segment polarity protein 3 JBrowse link 13 122,075,851 122,092,975 RGD:9068941
G ECE2 endothelin converting enzyme 2 JBrowse link 13 122,148,928 122,179,522 RGD:9068941
G EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase JBrowse link 13 123,104,085 123,162,119 RGD:9068941
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon JBrowse link 13 122,060,408 122,070,327 RGD:9068941
G EIF4G1 eukaryotic translation initiation factor 4 gamma 1 JBrowse link 13 122,203,488 122,225,371 RGD:9068941
G EPHB3 EPH receptor B3 JBrowse link 13 122,467,561 122,488,296 RGD:9068941
G FAM131A family with sequence similarity 131 member A JBrowse link 13 122,225,519 122,234,810 RGD:9068941
G FXR1 FMR1 autosomal homolog 1 JBrowse link 13 118,839,314 118,899,804 RGD:9068941
G GNB4 G protein subunit beta 4 JBrowse link 13 117,442,594 117,513,387 RGD:9068941
G IGF2BP2 insulin like growth factor 2 mRNA binding protein 2 JBrowse link 13 123,485,619 123,650,050 RGD:9068941
G KCNMB2 potassium calcium-activated channel subfamily M regulatory beta subunit 2 JBrowse link 13 116,745,204 116,999,300 RGD:9068941
G KCNMB3 potassium calcium-activated channel subfamily M regulatory beta subunit 3 JBrowse link 13 117,283,505 117,370,306 RGD:9068941
G KLHL24 kelch like family member 24 JBrowse link 13 121,564,833 121,608,146 RGD:9068941
G KLHL6 kelch like family member 6 JBrowse link 13 121,426,618 121,487,260 RGD:9068941
G LAMP3 lysosomal associated membrane protein 3 JBrowse link 13 121,081,717 121,117,660 RGD:9068941
G LINC02054 long intergenic non-protein coding RNA 2054 JBrowse link 13 122,319,988 122,332,332 RGD:9068941
G LIPH lipase H JBrowse link 13 123,372,909 123,419,505 RGD:9068941
G LOC100156142 5-hydroxytryptamine receptor 3D-like JBrowse link 13 121,969,190 121,977,096 RGD:9068941
G LOC102163598 5-hydroxytryptamine receptor 3C-like JBrowse link 13 121,987,063 121,995,297 RGD:9068941
G MAGEF1 MAGE family member F1 JBrowse link 13 122,600,984 122,602,700 RGD:9068941
G MAP3K13 mitogen-activated protein kinase kinase kinase 13 JBrowse link 13 123,176,077 123,357,551 RGD:9068941
G MAP6D1 MAP6 domain containing 1 JBrowse link 13 121,738,392 121,755,482 RGD:9068941
G MCCC1 methylcrotonoyl-CoA carboxylase 1 JBrowse link 13 120,983,226 121,070,695 RGD:9068941
G MCF2L2 MCF.2 cell line derived transforming sequence-like 2 JBrowse link 13 121,130,924 121,378,371 RGD:9068941
G MFN1 mitofusin 1 JBrowse link 13 117,404,637 117,441,750 RGD:9068941
G MIR1224 microRNA mir-1224 JBrowse link 13 122,141,042 122,141,149 RGD:9068941
G MNX1 motor neuron and pancreas homeobox 1 JBrowse link 18 1,724,930 1,730,724 RGD:7240710
G MRPL47 mitochondrial ribosomal protein L47 JBrowse link 13 117,626,846 117,656,388 RGD:9068941
G NDUFB5 NADH:ubiquinone oxidoreductase subunit B5 JBrowse link 13 117,656,411 117,671,515 RGD:9068941
G PARL presenilin associated rhomboid like JBrowse link 13 121,758,734 121,813,679 RGD:9068941
G PCSK5 proprotein convertase subtilisin/kexin type 5 JBrowse link 1 228,854,587 229,308,054 RGD:9068941
G PEX5L peroxisomal biogenesis factor 5 like JBrowse link 13 117,832,199 118,088,383 RGD:9068941
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha JBrowse link 13 117,193,935 117,282,151 RGD:9068941
G POLR2H RNA polymerase II, I and III subunit H JBrowse link 13 122,250,087 122,256,201 RGD:9068941
G PSMD2 proteasome 26S subunit, non-ATPase 2 JBrowse link 13 122,187,500 122,199,397 RGD:9068941
G SENP2 SUMO specific peptidase 2 JBrowse link 13 123,429,915 123,469,913 RGD:9068941
G SOX2 SRY-box transcription factor 2 JBrowse link 13 119,668,476 119,669,435 RGD:9068941
G THPO thrombopoietin JBrowse link 13 122,259,654 122,267,860 RGD:9068941
G TMEM41A transmembrane protein 41A JBrowse link 13 123,356,438 123,365,206 RGD:9068941
G TTC14 tetratricopeptide repeat domain 14 JBrowse link 13 118,614,392 118,638,229 RGD:9068941
G USP13 ubiquitin specific peptidase 13 JBrowse link 13 117,700,080 117,826,951 RGD:9068941
G VPS8 VPS8 subunit of CORVET complex JBrowse link 13 122,693,681 122,953,625 RGD:9068941
G YEATS2 YEATS domain containing 2 JBrowse link 13 121,637,823 121,746,131 RGD:9068941
G ZMAT3 zinc finger matrin-type 3 JBrowse link 13 117,113,272 117,147,639 RGD:9068941
G ZNF639 zinc finger protein 639 JBrowse link 13 117,370,496 117,384,046 RGD:9068941

Term paths to the root
Path 1
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  disease 12552
    syndrome 5521
      Currarino syndrome 59
Path 2
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  disease 12552
    Developmental Diseases 8752
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7600
        genetic disease 7161
          monogenic disease 5178
            autosomal genetic disease 4197
              autosomal dominant disease 2629
                Currarino syndrome 59
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.