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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

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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 chrNW_004936578:5,838,044...5,916,287
Ensembl chrNW_004936578:5,837,993...5,916,274 		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 chrNW_004936578:5,670,395...5,680,043
Ensembl chrNW_004936578:5,669,738...5,680,043 		JBrowse link
G Actl6a actin like 6A ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936566:3,577,412...3,587,182
Ensembl chrNW_004936566:3,573,974...3,595,534 		JBrowse link
G Alg3 ALG3 alpha-1,3- mannosyltransferase ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936578:5,616,617...5,622,206
Ensembl chrNW_004936578:5,616,617...5,622,206 		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 chrNW_004936578:5,680,748...5,691,666
Ensembl chrNW_004936578:5,682,541...5,689,521 		JBrowse link
G Atp11b ATPase phospholipid transporting 11B (putative) ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936566:577,975...691,849
Ensembl chrNW_004936566:578,258...678,949 		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 chrNW_004936566:271,807...289,526
Ensembl chrNW_004936566:273,714...274,847 		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 chrNW_004936578:5,606,507...5,607,850
Ensembl chrNW_004936578:5,606,536...5,607,850 		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 chrNW_004936566:2,610,756...2,663,657 JBrowse link
G Chrd chordin ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936578:5,498,473...5,507,195
Ensembl chrNW_004936578:5,498,887...5,507,198 		JBrowse link
G Clcn2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936578:5,525,461...5,539,351
Ensembl chrNW_004936578:5,525,601...5,539,472 		JBrowse link
G CUNH3orf70 chromosome unknown C3orf70 homolog ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936578:4,757,225...4,833,097
Ensembl chrNW_004936578:4,757,219...4,833,122 		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 chrNW_004936566:507,043...543,438
Ensembl chrNW_004936566:509,863...544,884 		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 chrNW_004936566:2,342,995...2,348,345
Ensembl chrNW_004936566:2,343,013...2,368,213 		JBrowse link
G Dvl3 dishevelled segment polarity protein 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936578:5,693,433...5,710,137
Ensembl chrNW_004936578:5,693,342...5,710,143 		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 chrNW_004936578:5,716,333...5,724,869
Ensembl chrNW_004936578:5,715,512...5,725,096 		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 chrNW_004936578:5,548,526...5,567,220
Ensembl chrNW_004936578:5,548,500...5,567,339 		JBrowse link
G Ephb3 EPH receptor B3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936578:5,286,580...5,297,369
Ensembl chrNW_004936578:5,287,340...5,298,142 		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 chrNW_004936578:5,540,704...5,547,944
Ensembl chrNW_004936578:5,539,582...5,548,001 		JBrowse link
G Fxr1 FMR1 autosomal homolog 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936566:2,354,301...2,425,140
Ensembl chrNW_004936566:2,354,441...2,425,176 		JBrowse link
G Gnb4 G protein subunit beta 4 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936566:3,690,338...3,732,814
Ensembl chrNW_004936566:3,690,316...3,732,814 		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 chrNW_004936578:4,070,997...4,222,661
Ensembl chrNW_004936578:4,070,955...4,222,427 		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 chrNW_004936566:4,219,377...4,462,459
Ensembl chrNW_004936566:4,219,374...4,253,410 		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 chrNW_004936566:3,903,272...3,918,741
Ensembl chrNW_004936566:3,903,272...3,915,094 		JBrowse link
G Klhl24 kelch like family member 24 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936578:6,116,117...6,151,244
Ensembl chrNW_004936578:6,116,068...6,151,297 		JBrowse link
G Klhl6 kelch like family member 6 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936578:6,226,533...6,284,343
Ensembl chrNW_004936578:6,226,495...6,284,293 		JBrowse link
G Lamp3 lysosomal associated membrane protein 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936566:365,326...394,985 JBrowse link
G Liph lipase H ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936578:4,304,503...4,346,838
Ensembl chrNW_004936578:4,320,937...4,345,972 		JBrowse link
G LOC101954746 peroxisomal bifunctional enzyme ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936578:4,554,164...4,666,427
Ensembl chrNW_004936578:4,554,113...4,666,428 		JBrowse link
G LOC101959833 endothelin-converting enzyme 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936578:5,586,086...5,615,940
Ensembl chrNW_004936578:5,585,443...5,616,099 		JBrowse link
G Magef1 MAGE family member F1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936578:5,178,399...5,180,058
Ensembl chrNW_004936578:5,178,609...5,179,547 		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 chrNW_004936578:4,363,361...4,461,133
Ensembl chrNW_004936578:4,368,900...4,532,966 		JBrowse link
G Map6d1 MAP6 domain containing 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936578:5,995,629...6,003,148
Ensembl chrNW_004936578:5,995,529...6,000,692 		JBrowse link
G Mccc1 methylcrotonyl-CoA carboxylase subunit 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936566:409,558...468,898
Ensembl chrNW_004936566:409,462...469,225 		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 chrNW_004936566:126,515...350,018
Ensembl chrNW_004936566:125,865...351,572 		JBrowse link
G Mfn1 mitofusin 1 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936566:3,737,315...3,775,894
Ensembl chrNW_004936566:3,737,315...3,775,693 		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 chrNW_004936797:618,696...623,219 JBrowse link
G Mrpl47 mitochondrial ribosomal protein L47 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936566:3,555,908...3,573,075
Ensembl chrNW_004936566:3,560,473...3,572,985 		JBrowse link
G Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936566:3,537,983...3,547,807
Ensembl chrNW_004936566:3,537,609...3,547,769 		JBrowse link
G Parl presenilin associated rhomboid like ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936578:5,945,765...5,992,972
Ensembl chrNW_004936578:5,945,635...5,993,143 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chrNW_004936503:11,466,955...11,896,887
Ensembl chrNW_004936503:11,466,950...11,896,887 		JBrowse link
G Pex5l peroxisomal biogenesis factor 5 like ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936566:3,195,110...3,411,037
Ensembl chrNW_004936566:3,195,553...3,404,705 		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 chrNW_004936566:3,924,013...3,951,052
Ensembl chrNW_004936566:3,923,934...3,951,073 		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 chrNW_004936578:5,519,482...5,528,355
Ensembl chrNW_004936578:5,519,462...5,523,744 		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 chrNW_004936578:5,570,969...5,580,334
Ensembl chrNW_004936578:5,570,817...5,580,617 		JBrowse link
G Senp2 SUMO specific peptidase 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936578:4,252,718...4,290,452
Ensembl chrNW_004936578:4,248,244...4,290,418 		JBrowse link
G Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936566:1,630,698...1,632,607
Ensembl chrNW_004936566:1,631,822...1,632,613 		JBrowse link
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936578:5,508,669...5,515,984
Ensembl chrNW_004936578:5,509,111...5,515,103 		JBrowse link
G Tmem41a transmembrane protein 41A ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936578:4,356,035...4,363,252
Ensembl chrNW_004936578:4,356,035...4,363,218 		JBrowse link
G Ttc14 tetratricopeptide repeat domain 14 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936566:2,674,425...2,683,989
Ensembl chrNW_004936566:2,674,841...2,683,832 		JBrowse link
G Usp13 ubiquitin specific peptidase 13 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936566:3,416,468...3,522,127
Ensembl chrNW_004936566:3,416,389...3,522,133 		JBrowse link
G Vps8 VPS8 subunit of CORVET complex ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936578:4,842,899...5,091,439
Ensembl chrNW_004936578:4,840,636...5,091,474 		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 chrNW_004936578:5,622,201...5,634,807
Ensembl chrNW_004936578:5,622,475...5,634,760 		JBrowse link
G Yeats2 YEATS domain containing 2 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936578:6,004,427...6,075,414
Ensembl chrNW_004936578:6,006,018...6,075,449 		JBrowse link
G Zmat3 zinc finger matrin-type 3 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936566:4,066,683...4,102,643
Ensembl chrNW_004936566:4,070,693...4,095,868 		JBrowse link
G Znf639 zinc finger protein 639 ISO ClinVar Annotator: match by term: Currarino triad ClinVar PMID:21681106 PMID:27549440 NCBI chrNW_004936566:3,831,234...3,841,972
Ensembl chrNW_004936566:3,831,942...3,837,957 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      Currarino syndrome 56
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9607
            autosomal genetic disease 8891
              autosomal dominant disease 5828
                Currarino syndrome 56
paths to the root