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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: 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: 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 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 chr11:80,473,809...80,567,257
Ensembl chr11:80,473,872...80,567,253
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 chr11:80,340,476...80,352,211
Ensembl chr11:80,339,977...80,352,211
JBrowse link
G Actl6a actin-like 6A ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:115,492,374...115,508,401
Ensembl chr 2:115,492,285...115,508,401
JBrowse link
G Alg3 ALG3, alpha-1,3- mannosyltransferase ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:80,300,487...80,306,014
Ensembl chr11:80,300,498...80,307,912
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 chr11:80,355,307...80,364,218
Ensembl chr11:80,328,041...80,364,140
JBrowse link
G Atp11b ATPase phospholipid transporting 11B (putative) ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:118,585,348...118,691,076
Ensembl chr 2:118,585,342...118,690,232
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 chr11:81,141,102...81,153,206
Ensembl chr11:81,140,599...81,156,166
JBrowse link
G Camk2n2 calcium/calmodulin-dependent protein kinase II inhibitor 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:80,289,702...80,290,829 JBrowse link
G Ccdc39 coiled-coil domain containing 39 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:116,665,261...116,703,364
Ensembl chr 2:116,665,261...116,703,350
JBrowse link
G Chrd chordin ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:80,171,994...80,181,166
Ensembl chr11:80,171,994...80,180,673
JBrowse link
G Clcn2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657
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 chr 2:118,721,275...118,772,606
Ensembl chr 2:118,721,822...118,772,602
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 chr 2:116,923,272...116,945,312
Ensembl chr 2:116,923,272...116,945,264
JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:80,365,446...80,382,641
Ensembl chr11:80,366,117...80,382,462
JBrowse link
G Ece2 endothelin-converting enzyme 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:80,259,130...80,299,685
Ensembl chr11:80,263,162...80,278,428
JBrowse link
G Eef1akmt4 EEF1A lysine methyltransferase 4 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:80,292,113...80,299,686
Ensembl chr11:80,291,978...80,299,659
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 chr11:79,241,927...79,275,173
Ensembl chr11:79,241,938...79,275,188
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 chr11:80,394,433...80,404,468
Ensembl chr11:80,394,433...80,404,419
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 chr11:80,221,919...80,241,958
Ensembl chr11:80,221,919...80,241,941
JBrowse link
G Ephb3 Eph receptor B3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:79,840,668...79,859,467
Ensembl chr11:79,840,668...79,859,370
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 chr11:80,211,577...80,221,527
Ensembl chr11:80,211,745...80,221,511
JBrowse link
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:116,884,167...116,937,586
Ensembl chr 2:116,884,248...116,937,590
JBrowse link
G Gnb4 G protein subunit beta 4 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:115,360,746...115,400,680
Ensembl chr 2:115,364,918...115,400,579
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 chr11:78,874,402...78,974,392
Ensembl chr11:78,874,414...78,974,377
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 chr 2:114,670,027...114,975,406
Ensembl chr 2:114,935,976...114,975,173
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 chr 2:115,255,788...115,270,142
Ensembl chr 2:115,253,761...115,270,142
JBrowse link
G Klhl24 kelch-like family member 24 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:80,843,621...80,877,693
Ensembl chr11:80,846,755...80,877,636
JBrowse link
G Klhl6 kelch-like family member 6 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:80,970,917...81,010,593
Ensembl chr11:80,970,917...81,009,677
JBrowse link
G Lamp3 lysosomal-associated membrane protein 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:81,153,491...81,224,643
Ensembl chr11:81,193,649...81,221,784
JBrowse link
G Liph lipase H ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:79,032,229...79,081,625
Ensembl chr11:79,033,312...79,081,625
JBrowse link
G LOC120095772 small nucleolar RNA SNORD66 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:80,230,152...80,230,226
Ensembl chr11:80,230,152...80,230,226
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 chr11:79,094,087...79,235,181
Ensembl chr11:79,097,247...79,235,181
JBrowse link
G Map6d1 MAP6 domain containing 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:80,734,148...80,740,377
Ensembl chr11:80,734,148...80,740,377
JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:118,799,147...118,851,181
Ensembl chr 2:118,799,150...118,851,222
JBrowse link
G Mfn1 mitofusin 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640
JBrowse link
G Mir1224 microRNA 1224 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:80,306,902...80,306,986
Ensembl chr11:80,306,902...80,306,986
JBrowse link
G Mnx1 motor neuron and pancreas homeobox 1 ISO ClinVar Annotator: match by term: Currarino triad
ClinVar Annotator: match by OMIM:176450
OMIM
ClinVar
PMID:7550324 PMID:9843207 PMID:10631160 PMID:10749657 PMID:11528505 More... NCBI chr 4:5,866,506...5,871,465
Ensembl chr 4:5,866,506...5,871,465
JBrowse link
G Mrpl47 mitochondrial ribosomal protein L47 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:115,507,842...115,520,093
Ensembl chr 2:115,500,264...115,518,994
JBrowse link
G Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:115,519,248...115,533,589
Ensembl chr 2:115,519,154...115,533,589
JBrowse link
G Parl presenilin associated, rhomboid-like ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:80,594,059...80,620,506
Ensembl chr11:80,593,192...80,620,506
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600
JBrowse link
G Pex5l peroxisomal biogenesis factor 5-like ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:115,694,868...115,908,338
Ensembl chr 2:115,700,972...115,913,628
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 chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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 chr11:80,192,017...80,197,468
Ensembl chr11:80,192,032...80,197,515
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 chr11:80,248,364...80,258,991
Ensembl chr11:80,248,364...80,259,043
JBrowse link
G RGD1562339 RGD1562339 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:79,345,792...79,396,140
Ensembl chr11:79,345,304...79,396,142
JBrowse link
G Senp2 SUMO specific peptidase 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:78,981,429...79,018,274
Ensembl chr11:78,981,432...79,018,238
JBrowse link
G Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:117,536,929...117,539,338
Ensembl chr 2:117,536,929...117,539,338
JBrowse link
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 Ensembl chr11:80,182,820...80,188,167 JBrowse link
G Tmem41a transmembrane protein 41a ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:79,084,005...79,090,613
Ensembl chr11:79,084,001...79,090,613
JBrowse link
G Ttc14 tetratricopeptide repeat domain 14 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:116,653,543...116,665,072
Ensembl chr 2:116,653,595...116,664,158
JBrowse link
G Usp13 ubiquitin specific peptidase 13 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:115,576,912...115,689,153
Ensembl chr 2:115,577,091...115,686,222
JBrowse link
G Vps8 VPS8 subunit of CORVET complex ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:79,402,236...79,634,234
Ensembl chr11:79,402,239...79,634,133
JBrowse link
G Vwa5b2 von Willebrand factor A domain containing 5B2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:80,306,067...80,323,220
Ensembl chr11:80,306,350...80,323,220
JBrowse link
G Yeats2 YEATS domain containing 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr11:80,743,134...80,829,253
Ensembl chr11:80,743,134...80,829,208
JBrowse link
G Zfp639 zinc finger protein 639 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:115,292,431...115,305,798
Ensembl chr 2:115,292,516...115,303,628
JBrowse link
G Zmat3 zinc finger, matrin type 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr 2:115,106,050...115,136,863
Ensembl chr 2:115,106,966...115,136,863
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17427
    syndrome 8258
      Currarino syndrome 57
Path 2
Term Annotations click to browse term
  disease 17427
    Developmental Disease 11128
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9663
        genetic disease 9069
          monogenic disease 7223
            autosomal genetic disease 6350
              autosomal dominant disease 4486
                Currarino syndrome 57
paths to the root