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Goldberg-Shprintzen syndrome - Ontology Report - Rat Genome Database

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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:Goldberg-Shprintzen syndrome
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Accession:DOID:0060481 term browser browse the term
Definition:A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1. (DO)
Synonyms:exact_synonym: GOSHS;   Goldberg-Shprintzen megacolon syndrome
 primary_id: MESH:C537279
 alt_id: MIM:609460
 xref: GARD:9849;   ORDO:66629

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Goldberg-Shprintzen syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,836,851...1,850,279
Ensembl chrNW_004936737:1,836,897...1,848,989 		JBrowse link
G Actrt2 actin related protein T2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:765,125...766,432
Ensembl chrNW_004936737:765,125...766,432 		JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chrNW_004936737:2,010,647...2,041,401
Ensembl chrNW_004936737:2,011,724...2,039,796 		JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,751,065...1,753,843 JBrowse link
G Arhgef16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:369,872...383,671
Ensembl chrNW_004936737:369,852...383,719 		JBrowse link
G Aurkaip1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,776,550...1,778,233
Ensembl chrNW_004936737:1,776,480...1,779,611 		JBrowse link
G B3galt6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,887,250...1,889,055
Ensembl chrNW_004936737:1,887,855...1,888,826 		JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,877,428...1,881,345
Ensembl chrNW_004936737:1,877,191...1,881,360 		JBrowse link
G Calml6 calmodulin like 6 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,468,172...1,470,326
Ensembl chrNW_004936737:1,468,269...1,469,445 		JBrowse link
G Ccdc27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:144,398...157,262 JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,765,027...1,773,156
Ensembl chrNW_004936737:1,764,189...1,772,475 		JBrowse link
G Cep104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:98,346...127,932
Ensembl chrNW_004936737:98,365...129,671 		JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,416,475...1,465,984 JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,816,461...1,820,353
Ensembl chrNW_004936737:1,816,475...1,820,320 		JBrowse link
G CUNH1orf159 chromosome unknown C1orf159 homolog ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chrNW_004936737:1,975,031...1,991,058 JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,797,348...1,811,043
Ensembl chrNW_004936737:1,797,326...1,810,286 		JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,296,152...1,300,038 JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,658,932...1,668,081 JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,400,437...1,405,885
Ensembl chrNW_004936737:1,400,395...1,406,119 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,518,855...1,554,926
Ensembl chrNW_004936737:1,524,325...1,555,102 		JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,045,496...1,047,865
Ensembl chrNW_004936737:1,046,613...1,047,950 		JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,820,472...1,833,301
Ensembl chrNW_004936737:1,822,826...1,833,104 		JBrowse link
G Kifbp kinesin family binding protein ISO ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome OMIM
ClinVar		 PMID:15883926 PMID:18414213 PMID:23427148 PMID:24072599 PMID:24901346 More... NCBI chrNW_004936521:9,395,490...9,421,093
Ensembl chrNW_004936521:9,395,465...9,421,629 		JBrowse link
G Lrrc47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:129,781...139,139
Ensembl chrNW_004936737:129,724...139,468 		JBrowse link
G Megf6 multiple EGF like domains 6 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:269,629...364,809 JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,633,495...1,646,598 JBrowse link
G Mmel1 membrane metalloendopeptidase like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:970,504...997,452
Ensembl chrNW_004936737:970,504...997,067 		JBrowse link
G Mmp23b matrix metallopeptidase 23B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,628,915...1,632,023
Ensembl chrNW_004936737:1,629,639...1,632,023 		JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,166,183...1,214,517 JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,760,236...1,761,776 JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,790,653...1,794,749
Ensembl chrNW_004936737:1,790,587...1,794,796 		JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,568,304...1,579,929 JBrowse link
G Nek9 NIMA related kinase 9 ISO ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome ClinVar PMID:25741868 NCBI chrNW_004936488:4,221,099...4,261,401
Ensembl chrNW_004936488:4,220,429...4,261,432 		JBrowse link
G Pank4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,049,467...1,064,548
Ensembl chrNW_004936737:1,048,597...1,065,364 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,144,753...1,152,720
Ensembl chrNW_004936737:1,144,700...1,152,718 		JBrowse link
G Plch2 phospholipase C eta 2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,066,860...1,131,627
Ensembl chrNW_004936737:1,066,825...1,133,216 		JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:400,819...446,768
Ensembl chrNW_004936737:404,846...446,985 		JBrowse link
G Prkcz protein kinase C zeta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,303,502...1,383,135
Ensembl chrNW_004936737:1,303,887...1,321,944 		JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:998,313...1,000,757
Ensembl chrNW_004936737:998,186...1,000,764 		JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,833,298...1,836,101
Ensembl chrNW_004936737:1,833,798...1,836,696 		JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,152,937...1,164,817
Ensembl chrNW_004936737:1,152,937...1,164,616 		JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chrNW_004936737:1,992,117...1,997,810 JBrowse link
G Scnn1d sodium channel epithelial 1 subunit delta ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,851,185...1,854,923 JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,889,123...1,898,303
Ensembl chrNW_004936737:1,891,415...1,898,904 		JBrowse link
G Ski SKI proto-oncogene ISO ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome
ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome 		ClinVar PMID:7977351 PMID:8449506 PMID:8981946 PMID:9536098 PMID:15979919 More... NCBI chrNW_004936737:1,223,653...1,274,664
Ensembl chrNW_004936737:1,222,341...1,276,631 		JBrowse link
G Smim1 small integral membrane protein 1 (Vel blood group) ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:141,024...141,851
Ensembl chrNW_004936737:140,702...143,791 		JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,678,425...1,705,569
Ensembl chrNW_004936737:1,678,425...1,705,609 		JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,811,123...1,814,982
Ensembl chrNW_004936737:1,811,815...1,814,982 		JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,710,311...1,711,882 JBrowse link
G Tmem278 transmembrane protein 278 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,746,208...1,746,947 JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,466,168...1,468,003 JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,008,228...1,013,575 JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chrNW_004936737:1,905,307...1,910,356 JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,901,749...1,904,382 JBrowse link
G Tp73 tumor protein p73 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:171,894...211,464
Ensembl chrNW_004936737:172,467...211,464 		JBrowse link
G Tprg1l tumor protein p63 regulated 1 like ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:253,752...258,767 JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:28492532 NCBI chrNW_004936737:1,910,286...1,926,061 JBrowse link
G Ube2j2 ubiquitin conjugating enzyme E2 J2 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,862,577...1,875,216
Ensembl chrNW_004936737:1,862,578...1,875,248 		JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:1,733,837...1,738,861
Ensembl chrNW_004936737:1,733,854...1,738,792 		JBrowse link
G Wrap73 WD repeat containing, antisense to TP73 ISO ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome ClinVar PMID:23892090 PMID:28492532 PMID:31602316 NCBI chrNW_004936737:238,615...253,495
Ensembl chrNW_004936737:238,573...255,356 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14641
    syndrome 10018
      Goldberg-Shprintzen syndrome 61
Path 2
Term Annotations click to browse term
  disease 14641
    Developmental Disease 12849
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12093
        genetic disease 11814
          monogenic disease 10162
            autosomal genetic disease 9757
              autosomal recessive disease 6734
                Goldberg-Shprintzen syndrome 61
paths to the root