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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: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: SCRA1;   hereditary sacral agenesis with presacral mass, anterior meningocele, and/or teratoma, and anorectal malformation;   sacral agenesis syndrome
 primary_id: MESH:C536221
 alt_id: MIM:176450
 xref: GARD:1626;   ORDO:1552


show annotations for term's descendants           Sort by:
Currarino syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC5 ATP binding cassette subfamily C member 5 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:121,868,614...121,957,901
Ensembl chr13:121,869,600...121,926,071 		JBrowse link
G ABCF3 ATP binding cassette subfamily F member 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,102,939...122,112,896
Ensembl chr13:122,105,344...122,113,559 		JBrowse link
G ACTL6A actin like 6A ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:117,598,415...117,627,311
Ensembl chr13:117,598,496...117,628,488 		JBrowse link
G ALG3 ALG3 alpha-1,3- mannosyltransferase ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,142,044...122,148,777
Ensembl chr13:122,141,967...122,148,206 		JBrowse link
G ALG3 ALG3 alpha-1,3- mannosyltransferase ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,156,080...122,158,396
Ensembl chr13:122,156,041...122,158,367 		JBrowse link
G AP2M1 adaptor related protein complex 2 subunit mu 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,094,375...122,103,408
Ensembl chr13:122,094,437...122,104,802 		JBrowse link
G ATP11B ATPase phospholipid transporting 11B (putative) ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:120,727,633...120,873,907
Ensembl chr13:120,727,608...120,873,930 		JBrowse link
G B3GNT5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:121,205,070...121,222,997
Ensembl chr13:121,206,550...121,223,922 		JBrowse link
G C13H3orf70 chromosome 13 C3orf70 homolog ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,958,339...123,058,988
Ensembl chr13:122,958,347...123,058,655 		JBrowse link
G CCDC39 coiled-coil domain 39 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:118,623,787...118,773,205
Ensembl chr13:118,626,330...118,682,281 		JBrowse link
G CHRD chordin ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,266,632...122,277,513
Ensembl chr13:122,266,626...122,277,645 		JBrowse link
G CLCN2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,234,731...122,249,889
Ensembl chr13:122,234,736...122,249,867 		JBrowse link
G DCUN1D1 defective in cullin neddylation 1 domain containing 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:120,914,001...120,950,825 JBrowse link
G DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:118,907,299...118,913,270
Ensembl chr13:118,902,666...118,913,270 		JBrowse link
G DVL3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,075,851...122,092,975
Ensembl chr13:122,076,003...122,092,971 		JBrowse link
G ECE2 endothelin converting enzyme 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,148,928...122,179,522
Ensembl chr13:122,165,152...122,179,498
Ensembl chr13:122,165,152...122,179,498 		JBrowse link
G EHHADH enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:123,104,085...123,162,119
Ensembl chr13:123,104,101...123,176,086 		JBrowse link
G EIF2B5 eukaryotic translation initiation factor 2B subunit epsilon ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,060,408...122,070,327
Ensembl chr13:122,060,473...122,070,304 		JBrowse link
G EIF4G1 eukaryotic translation initiation factor 4 gamma 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,203,488...122,225,371
Ensembl chr13:122,203,508...122,225,360 		JBrowse link
G EPHB3 EPH receptor B3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,467,561...122,488,296
Ensembl chr13:122,467,588...122,488,292 		JBrowse link
G FAM131A family with sequence similarity 131 member A ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,225,519...122,234,810
Ensembl chr13:122,225,956...122,234,810 		JBrowse link
G FXR1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:118,839,314...118,899,804
Ensembl chr13:118,839,338...118,900,136 		JBrowse link
G GNB4 G protein subunit beta 4 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:117,442,594...117,513,387
Ensembl chr13:117,436,673...117,513,392 		JBrowse link
G IGF2BP2 insulin like growth factor 2 mRNA binding protein 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:123,485,619...123,650,050
Ensembl chr13:123,485,628...123,650,039 		JBrowse link
G KCNMB2 potassium calcium-activated channel subfamily M regulatory beta subunit 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:116,745,204...116,999,300
Ensembl chr13:116,969,591...116,998,200 		JBrowse link
G KCNMB3 potassium calcium-activated channel subfamily M regulatory beta subunit 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:117,283,505...117,370,306
Ensembl chr13:117,283,631...117,309,863 		JBrowse link
G KLHL24 kelch like family member 24 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:121,564,833...121,608,146
Ensembl chr13:121,570,591...121,608,139 		JBrowse link
G KLHL6 kelch like family member 6 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:121,426,618...121,487,260 JBrowse link
G LAMP3 lysosomal associated membrane protein 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:121,081,717...121,117,660
Ensembl chr13:121,081,424...121,117,665 		JBrowse link
G LINC02054 long intergenic non-protein coding RNA 2054 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,319,988...122,332,332 JBrowse link
G LIPH lipase H ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:123,372,909...123,419,505
Ensembl chr13:123,371,860...123,419,434 		JBrowse link
G LOC100156142 5-hydroxytryptamine receptor 3D-like ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:121,969,190...121,977,096
Ensembl chr13:121,969,656...121,975,217 		JBrowse link
G LOC102163598 5-hydroxytryptamine receptor 3C-like ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:121,987,063...121,995,297
Ensembl chr13:121,988,806...121,994,463 		JBrowse link
G MAGEF1 MAGE family member F1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,600,984...122,602,700
Ensembl chr13:122,598,928...122,602,646 		JBrowse link
G MAP3K13 mitogen-activated protein kinase kinase kinase 13 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:123,176,077...123,357,551
Ensembl chr13:123,176,188...123,352,775 		JBrowse link
G MAP6D1 MAP6 domain containing 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:121,738,392...121,755,482
Ensembl chr13:121,748,648...121,755,445 		JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:120,983,226...121,070,695
Ensembl chr13:120,915,730...121,070,369 		JBrowse link
G MCF2L2 MCF.2 cell line derived transforming sequence-like 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:121,130,924...121,378,371
Ensembl chr13:121,132,948...121,378,371 		JBrowse link
G MFN1 mitofusin 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:117,404,637...117,441,750
Ensembl chr13:117,404,699...117,442,481 		JBrowse link
G MIR1224 microRNA mir-1224 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,141,042...122,141,149
Ensembl chr13:122,141,042...122,141,149 		JBrowse link
G MNX1 motor neuron and pancreas homeobox 1 ISO ClinVar Annotator: match by term: Currarino triad OMIM
ClinVar		 PMID:7550324 PMID:9843207 PMID:10631160 PMID:10749657 PMID:11528505 More... NCBI chr18:1,724,930...1,730,724
Ensembl chr18:1,725,244...1,730,878 		JBrowse link
G MRPL47 mitochondrial ribosomal protein L47 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:117,626,846...117,656,388
Ensembl chr13:117,625,330...117,656,389 		JBrowse link
G NDUFB5 NADH:ubiquinone oxidoreductase subunit B5 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:117,656,411...117,671,515
Ensembl chr13:117,656,503...117,678,509 		JBrowse link
G PARL presenilin associated rhomboid like ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:121,758,734...121,813,679
Ensembl chr13:121,758,738...121,813,638 		JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:228,854,587...229,308,054
Ensembl chr 1:228,854,595...229,308,906 		JBrowse link
G PEX5L peroxisomal biogenesis factor 5 like ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:117,832,199...118,088,383
Ensembl chr13:117,833,705...118,088,277 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587 		JBrowse link
G POLR2H RNA polymerase II, I and III subunit H ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,250,087...122,256,201
Ensembl chr13:122,250,020...122,256,195 		JBrowse link
G PSMD2 proteasome 26S subunit ubiquitin receptor, non-ATPase 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,187,500...122,199,397
Ensembl chr13:122,187,466...122,199,400 		JBrowse link
G SENP2 SUMO specific peptidase 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:123,429,915...123,469,913
Ensembl chr13:123,429,995...123,471,926 		JBrowse link
G SOX2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:119,668,476...119,669,435
Ensembl chr13:119,668,476...119,669,435 		JBrowse link
G THPO thrombopoietin ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,259,654...122,267,860
Ensembl chr13:122,260,215...122,267,860 		JBrowse link
G TMEM41A transmembrane protein 41A ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:123,356,438...123,365,206
Ensembl chr13:123,356,438...123,365,209 		JBrowse link
G TTC14 tetratricopeptide repeat domain 14 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:118,614,392...118,638,229
Ensembl chr13:118,614,424...118,638,223 		JBrowse link
G USP13 ubiquitin specific peptidase 13 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:117,700,080...117,826,951
Ensembl chr13:117,700,119...117,826,944 		JBrowse link
G VPS8 VPS8 subunit of CORVET complex ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:122,693,681...122,953,625
Ensembl chr13:122,693,760...122,950,420 		JBrowse link
G YEATS2 YEATS domain containing 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:121,637,823...121,746,131
Ensembl chr13:121,637,874...121,746,122 		JBrowse link
G ZMAT3 zinc finger matrin-type 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:117,113,272...117,147,639
Ensembl chr13:117,117,626...117,147,604 		JBrowse link
G ZNF639 zinc finger protein 639 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr13:117,370,496...117,384,046
Ensembl chr13:117,370,544...117,384,041 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15390
    syndrome 10317
      Currarino syndrome 59
Path 2
Term Annotations click to browse term
  disease 15390
    Developmental Disease 13423
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12510
        genetic disease 12216
          monogenic disease 10423
            autosomal genetic disease 9966
              autosomal dominant disease 6453
                Currarino syndrome 59
paths to the root