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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: OMIM: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 chr34:16,856,624...16,947,844
Ensembl chr34:16,856,633...16,946,422 		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 chr34:17,082,911...17,089,942
Ensembl chr34:17,082,987...17,089,911 		JBrowse link
G ACTL6A actin like 6A ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:12,922,506...12,988,334
Ensembl chr34:12,960,699...12,987,962 		JBrowse link
G ALG3 ALG3 alpha-1,3- mannosyltransferase ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:17,135,362...17,141,284
Ensembl chr34:17,132,853...17,152,901 		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 chr34:17,071,199...17,080,445
Ensembl chr34:17,071,235...17,080,445 		JBrowse link
G ATP11B ATPase phospholipid transporting 11B (putative) ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:15,802,376...15,916,896
Ensembl chr34:15,829,063...15,914,842 		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 chr34:16,208,518...16,228,592
Ensembl chr34:16,225,002...16,226,147 		JBrowse link
G C34H3orf70 chromosome 34 C3orf70 homolog ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:17,907,247...17,985,399
Ensembl chr34:17,911,682...17,985,197 		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 chr34:17,149,064...17,151,371 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 chr34:13,915,763...13,959,574
Ensembl chr34:13,905,434...13,959,340 		JBrowse link
G CHRD chordin ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:17,255,770...17,264,776
Ensembl chr34:17,255,562...17,271,713 		JBrowse link
G CLCN2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:17,224,136...17,238,755
Ensembl chr34:17,223,215...17,239,621 		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 chr34:15,962,629...15,998,910
Ensembl chr34:15,966,241...15,998,834 		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 chr34:14,199,507...14,204,736
Ensembl chr34:14,199,675...14,204,687 		JBrowse link
G DVL3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:17,053,534...17,069,965
Ensembl chr34:17,053,343...17,068,389 		JBrowse link
G ECE2 endothelin converting enzyme 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:17,141,411...17,174,413
Ensembl chr34:17,141,494...17,148,444
Ensembl chr34:17,141,494...17,148,444 		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 chr34:18,021,047...18,080,993
Ensembl chr34:18,022,353...18,080,903 		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 chr34:17,038,163...17,047,390
Ensembl chr34:17,038,203...17,046,928 		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 chr34:17,194,588...17,214,498
Ensembl chr34:17,195,562...17,214,052 		JBrowse link
G EPHB3 EPH receptor B3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:17,422,746...17,433,769
Ensembl chr34:17,422,842...17,462,954 		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 chr34:17,216,651...17,224,214
Ensembl chr34:17,216,864...17,223,872 		JBrowse link
G FXR1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:14,129,978...14,192,016
Ensembl chr34:14,130,017...14,191,370 		JBrowse link
G GNB4 G protein subunit beta 4 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:12,818,063...12,849,822
Ensembl chr34:12,822,104...12,876,865 		JBrowse link
G HTR3C 5-hydroxytryptamine receptor 3C ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:16,969,213...16,976,401 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 chr34:18,368,509...18,522,233
Ensembl chr34:18,369,684...18,522,157 		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 chr34:41,963,544...41,995,692
Ensembl chr34:41,963,561...41,991,763 		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 chr34:12,683,658...12,708,516
Ensembl chr34:12,681,574...12,707,956 		JBrowse link
G KLHL24 kelch like family member 24 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:16,583,683...16,625,778
Ensembl chr34:16,590,368...16,621,041 		JBrowse link
G KLHL6 kelch like family member 6 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:16,443,282...16,556,991
Ensembl chr34:16,446,944...16,504,549 		JBrowse link
G LAMP3 lysosomal associated membrane protein 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:16,092,172...16,126,563 JBrowse link
G LIPH lipase H ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:18,269,510...18,316,664
Ensembl chr34:18,270,070...18,316,066 		JBrowse link
G LOC100856260 5-hydroxytryptamine receptor 3E ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:17,011,403...17,019,214
Ensembl chr34:17,011,555...17,018,941 		JBrowse link
G LOC119867566 small nucleolar RNA SNORA63 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440
G LOC119867567 small nucleolar RNA SNORA63 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440
G LOC119867571 small nucleolar RNA SNORD66 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440
G LOC478649 5-hydroxytryptamine receptor 3C-like ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:16,958,296...16,961,863
Ensembl chr34:16,958,083...16,961,857 		JBrowse link
G MAGEF1 MAGE family member F1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:17,543,381...17,545,089
Ensembl chr34:17,543,906...17,544,868 		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 chr34:18,081,158...18,252,800
Ensembl chr34:18,083,595...18,247,367 		JBrowse link
G MAP6D1 MAP6 domain containing 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:16,781,131...16,788,432 JBrowse link
G MCCC1 methylcrotonyl-CoA carboxylase subunit 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:16,022,493...16,084,346
Ensembl chr34:16,022,499...16,084,387 		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 chr34:16,139,445...16,378,340
Ensembl chr34:16,142,177...16,380,259 		JBrowse link
G MFN1 mitofusin 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:12,785,799...12,816,881
Ensembl chr34:12,785,856...12,815,994 		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 chr16:19,509,038...19,514,378
Ensembl chr16:19,499,582...19,512,836 		JBrowse link
G MRPL47 mitochondrial ribosomal protein L47 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:12,988,682...13,020,184
Ensembl chr34:12,988,735...13,020,149 		JBrowse link
G NDUFB5 NADH:ubiquinone oxidoreductase subunit B5 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:13,020,240...13,041,669
Ensembl chr34:13,020,345...13,040,163 		JBrowse link
G PARL presenilin associated rhomboid like ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:16,790,049...16,837,557
Ensembl chr34:16,781,139...16,837,545 		JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:82,088,090...82,506,131
Ensembl chr 1:82,090,664...82,555,145 		JBrowse link
G PEX5L peroxisomal biogenesis factor 5 like ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:13,187,814...13,502,508
Ensembl chr34:13,187,807...13,416,827 		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 chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910 		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 chr34:17,240,604...17,244,907
Ensembl chr34:17,240,624...17,244,904 		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 chr34:17,180,119...17,189,298
Ensembl chr34:17,180,098...17,189,303 		JBrowse link
G SENP2 SUMO specific peptidase 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:18,325,373...18,357,152
Ensembl chr34:18,325,553...18,356,192 		JBrowse link
G SOX2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:14,853,000...14,855,153 JBrowse link
G THPO thrombopoietin ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:17,245,006...17,255,250
Ensembl chr34:17,247,731...17,253,033 		JBrowse link
G TMEM41A transmembrane protein 41A ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:18,253,302...18,261,915
Ensembl chr34:18,254,902...18,262,259 		JBrowse link
G TTC14 tetratricopeptide repeat domain 14 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:13,904,072...13,913,936
Ensembl chr34:13,904,068...13,913,745 		JBrowse link
G USP13 ubiquitin specific peptidase 13 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:13,059,099...13,175,980
Ensembl chr34:13,059,092...13,171,234 		JBrowse link
G VPS8 VPS8 subunit of CORVET complex ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:17,632,749...17,889,607
Ensembl chr34:17,632,208...17,889,036 		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 chr34:17,125,012...17,135,285
Ensembl chr34:17,123,642...17,135,287 		JBrowse link
G YEATS2 YEATS domain containing 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:16,654,672...16,777,493
Ensembl chr34:16,654,493...16,777,506 		JBrowse link
G ZMAT3 zinc finger matrin-type 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:12,527,909...12,575,409
Ensembl chr34:12,535,040...12,575,517 		JBrowse link
G ZNF639 zinc finger protein 639 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chr34:12,767,067...12,775,995
Ensembl chr34:12,766,681...12,775,792 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    syndrome 10064
      Currarino syndrome 62
Path 2
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        genetic disease 17430
          monogenic disease 10127
            autosomal genetic disease 9334
              autosomal dominant disease 6137
                Currarino syndrome 62
paths to the root