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ONTOLOGY REPORT - ANNOTATIONS


Term:esophageal atresia
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Accession:DOID:10485 term browser browse the term
Definition:Congenital abnormality characterized by the lack of full development of the ESOPHAGUS that commonly occurs with TRACHEOESOPHAGEAL FISTULA. Symptoms include excessive SALIVATION; GAGGING; CYANOSIS; and DYSPNEA.
Synonyms:exact_synonym: Congenital atresia of esophagus;   Congenital imperforate esophagus;   Esophageal Atresias;   Imperforate esophagus;   Oesophageal atresia
 primary_id: MESH:D004933;   RDO:0003282
 xref: GARD:6381;   ICD10CM:Q39.0;   NCI:C87072
For additional species annotation, visit the Alliance of Genome Resources.


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esophageal atresia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ambra1 autophagy and beclin 1 regulator 1 JBrowse link 3 80,634,470 80,830,068 RGD:8554872
G Anapc2 anaphase promoting complex subunit 2 JBrowse link 3 2,490,496 2,502,247 RGD:8554872
G Ankrd17 ankyrin repeat domain 17 JBrowse link 14 19,291,025 19,431,521 RGD:8554872
G Ash1l ASH1 like histone lysine methyltransferase JBrowse link 2 188,252,592 188,389,251 RGD:8554872
G Atp13a1 ATPase 13A1 JBrowse link 16 21,364,087 21,380,142 RGD:8554872
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 JBrowse link 1 81,852,423 81,881,565 RGD:8554872
G Atp2a3 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 JBrowse link 10 59,528,849 59,560,440 RGD:8554872
G Atp6v0a1 ATPase H+ transporting V0 subunit a1 JBrowse link 10 88,914,264 88,967,736 RGD:8554872
G C2cd4a C2 calcium-dependent domain containing 4A JBrowse link 8 73,671,516 73,686,344 RGD:8554872
G Cacna1c calcium voltage-gated channel subunit alpha1 C JBrowse link 4 150,635,808 151,270,790 RGD:8554872
G Camta1 calmodulin binding transcription activator 1 JBrowse link 5 168,138,207 169,017,295 RGD:8554872
G Ccr10 C-C motif chemokine receptor 10 JBrowse link 10 89,086,556 89,088,993 RGD:8554872
G Cdc27 cell division cycle 27 JBrowse link 10 92,551,754 92,602,214 RGD:8554872
G Celf3 CUGBP, Elav-like family member 3 JBrowse link 2 195,716,373 195,732,872 RGD:8554872
G Chd3 chromodomain helicase DNA binding protein 3 JBrowse link 10 55,943,467 55,970,417 RGD:8554872
G Chst1 carbohydrate sulfotransferase 1 JBrowse link 3 81,441,785 81,512,829 RGD:8554872
G Clip3 CAP-GLY domain containing linker protein 3 JBrowse link 1 88,750,453 88,766,453 RGD:8554872
G Cmip c-Maf-inducing protein JBrowse link 19 49,792,273 50,000,535 RGD:8554872
G Cntnap1 contactin associated protein 1 JBrowse link 10 89,087,904 89,103,615 RGD:8554872
G Cop1 COP1, E3 ubiquitin ligase JBrowse link 13 76,942,883 77,076,015 RGD:8554872
G Cux1 cut-like homeobox 1 JBrowse link 12 23,150,886 23,470,095 RGD:8554872
G Ddn dendrin JBrowse link 7 140,479,707 140,486,093 RGD:8554872
G Dgcr8 DGCR8 microprocessor complex subunit JBrowse link 11 86,852,682 86,885,233 RGD:8554872
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:8554872
G Dock3 dedicator of cyto-kinesis 3 JBrowse link 8 115,627,282 115,982,260 RGD:8554872
G Drosha drosha ribonuclease III JBrowse link 2 62,887,267 63,000,307 RGD:8554872
G Dscam DS cell adhesion molecule JBrowse link 11 37,004,776 37,599,866 RGD:8554872
G Dscaml1 DS cell adhesion molecule-like 1 JBrowse link 8 49,733,835 50,056,115 RGD:8554872
G Dst dystonin JBrowse link 9 37,902,336 38,296,961 RGD:8554872
G Eftud2 elongation factor Tu GTP binding domain containing 2 JBrowse link 10 90,932,071 90,983,971 RGD:10045556
G Fbxw7 F-box and WD repeat domain containing 7 JBrowse link 2 184,230,191 184,309,805 RGD:8554872
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 JBrowse link 10 27,090,913 27,179,786 RGD:8554872
G Gal3st3 galactose-3-O-sulfotransferase 3 JBrowse link 1 220,668,544 220,678,300 RGD:8554872
G Gnas GNAS complex locus JBrowse link 3 172,374,957 172,434,988 RGD:8554872
G Gnaz G protein subunit alpha z JBrowse link 20 14,593,072 14,644,020 RGD:8554872
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:12792229
G H2az1 H2A.Z variant histone 1 JBrowse link 2 243,105,224 243,107,333 RGD:8554872
G Hoxc4 homeo box C4 JBrowse link 7 144,646,605 144,652,589 RGD:10402180
G Hspa12b heat shock protein family A (Hsp70) member 12B JBrowse link 3 123,670,219 123,688,640 RGD:8554872
G Igsf3 immunoglobulin superfamily, member 3 JBrowse link 2 203,768,364 203,855,573 RGD:8554872
G Ino80 INO80 complex ATPase subunit JBrowse link 3 111,186,371 111,266,542 RGD:8554872
G Insr insulin receptor JBrowse link 12 1,682,527 1,816,414 RGD:8554872
G Irgq immunity-related GTPase Q JBrowse link 1 81,395,922 81,403,872 RGD:8554872
G Itgb1 integrin subunit beta 1 JBrowse link 19 61,677,512 61,725,537 RGD:8554872
G Itpr3 inositol 1,4,5-trisphosphate receptor, type 3 JBrowse link 20 5,645,894 5,711,702 RGD:8554872
G Kalrn kalirin, RhoGEF kinase JBrowse link 11 69,484,293 70,025,682 RGD:8554872
G Kbtbd7 kelch repeat and BTB domain containing 7 JBrowse link 15 61,692,041 61,696,506 RGD:8554872
G Kcna6 potassium voltage-gated channel subfamily A member 6 JBrowse link 4 159,253,934 159,287,193 RGD:8554872
G Kcnf1 potassium voltage-gated channel modifier subfamily F member 1 JBrowse link 6 42,471,060 42,473,738 RGD:8554872
G Kdm1a lysine demethylase 1A JBrowse link 5 154,909,003 154,965,171 RGD:8554872
G Kdm4a lysine demethylase 4A JBrowse link 5 136,967,650 137,014,402 RGD:8554872
G Kif21b kinesin family member 21B JBrowse link 13 52,976,505 53,026,750 RGD:8554872
G Kif5a kinesin family member 5A JBrowse link 7 70,515,832 70,552,897 RGD:8554872
G Klhdc3 kelch domain containing 3 JBrowse link 9 16,612,429 16,618,761 RGD:8554872
G Klhl20 kelch-like family member 20 JBrowse link 13 78,912,361 78,957,226 RGD:8554872
G Klhl7 kelch-like family member 7 JBrowse link 4 7,532,881 7,582,032 RGD:8554872
G Kmt2a lysine methyltransferase 2A JBrowse link 8 49,110,407 49,185,872 RGD:8554872
G Kmt2b lysine methyltransferase 2B JBrowse link 1 89,022,889 89,042,176 RGD:8554872
G Map2k1 mitogen activated protein kinase kinase 1 JBrowse link 8 69,134,218 69,722,573 RGD:8554872
G Mark2 microtubule affinity regulating kinase 2 JBrowse link 1 222,525,547 222,590,727 RGD:8554872
G Megf8 multiple EGF-like-domains 8 JBrowse link 1 82,184,671 82,234,045 RGD:8554872
G Mid2 midline 2 JBrowse link X 112,019,897 112,121,980 RGD:8554872
G Mycbp2 MYC binding protein 2 JBrowse link 15
15
87,405,472
93,678,062
87,450,812
93,901,556
RGD:8554872
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:8554872
G Nags N-acetylglutamate synthase JBrowse link 10 90,084,607 90,089,693 RGD:8554872
G Nbea neurobeachin JBrowse link 2 145,011,648 145,513,439 RGD:8554872
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
G Notch3 notch receptor 3 JBrowse link 7 14,138,495 14,189,688 RGD:8554872
G Npas3 neuronal PAS domain protein 3 JBrowse link 6 74,081,995 74,913,025 RGD:8554872
G Nrxn2 neurexin 2 JBrowse link 1 221,792,191 221,908,047 RGD:8554872
G Pde2a phosphodiesterase 2A JBrowse link 1 166,534,643 166,626,158 RGD:8554872
G Pde4d phosphodiesterase 4D JBrowse link 2 40,219,999 41,468,551 RGD:8554872
G Pi4ka phosphatidylinositol 4-kinase alpha JBrowse link 11 87,858,323 87,975,549 RGD:8554872
G Plk2 polo-like kinase 2 JBrowse link 2 41,911,143 41,916,901 RGD:8554872
G Plxna2 plexin A2 JBrowse link 13 113,373,569 113,570,774 RGD:8554872
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:8554872
G Psmd2 proteasome 26S subunit, non-ATPase 2 JBrowse link 11 83,934,098 83,944,725 RGD:8554872
G RGD1307100 similar to RIKEN cDNA D630029K19 JBrowse link 2 123,555,742 123,766,675 RGD:8554872
G Rorb RAR-related orphan receptor B JBrowse link 1 234,252,757 234,442,597 RGD:8554872
G Rpgr retinitis pigmentosa GTPase regulator JBrowse link X 14,271,012 14,331,745 RGD:8554872
G Rsph14 radial spoke head 14 homolog JBrowse link 20 14,576,983 14,653,236 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
G Sfmbt1 Scm-like with four mbt domains 1 JBrowse link 16 6,775,648 6,896,155 RGD:8554872
G Sfpq splicing factor proline and glutamine rich JBrowse link 5 145,079,803 145,088,517 RGD:8554872
G Sh3kbp1 SH3 domain-containing kinase-binding protein 1 JBrowse link X 37,790,004 38,196,365 RGD:8554872
G Shank2 SH3 and multiple ankyrin repeat domains 2 JBrowse link 1 217,149,156 217,593,950 RGD:8554872
G Sin3a SIN3 transcription regulator family member A JBrowse link 8 61,748,590 61,803,314 RGD:8554872
G Sipa1 signal-induced proliferation-associated 1 JBrowse link 1 221,006,305 221,018,820 RGD:8554872
G Slc18a2 solute carrier family 18 member A2 JBrowse link 1 280,397,831 280,457,968 RGD:8554872
G Slc38a5 solute carrier family 38, member 5 JBrowse link X 14,963,919 14,972,675 RGD:8554872
G Sox2 SRY-box transcription factor 2 JBrowse link 2 121,165,137 121,167,545 RGD:8554872
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:8554872
G Stat5a signal transducer and activator of transcription 5A JBrowse link 10 88,764,732 88,789,060 RGD:8554872
G Tcf4 transcription factor 4 JBrowse link 18 65,285,320 65,507,983 RGD:8554872
G Tenm2 teneurin transmembrane protein 2 JBrowse link 10 20,846,091 21,791,771 RGD:8554872
G Tent5a terminal nucleotidyltransferase 5A JBrowse link 8 92,935,474 92,942,267 RGD:8554872
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:8554872
G Tlk2 tousled-like kinase 2 JBrowse link 10 93,410,181 93,507,277 RGD:8554872
G Tmcc1 transmembrane and coiled-coil domain family 1 JBrowse link 4 147,920,987 148,048,852 RGD:8554872
G Tnpo1 transportin 1 JBrowse link 2 29,056,219 29,126,882 RGD:8554872
G Trim71 tripartite motif containing 71 JBrowse link 8 122,553,015 122,604,787 RGD:8554872
G Trio trio Rho guanine nucleotide exchange factor JBrowse link 2 80,471,398 80,769,313 RGD:8554872
G Trmt1l tRNA methyltransferase 1-like JBrowse link 13 68,785,889 68,819,018 RGD:8554872
G Ube3a ubiquitin protein ligase E3A JBrowse link 1 116,586,901 116,678,161 RGD:8554872
G Unc13a unc-13 homolog A JBrowse link 16 20,056,398 20,103,951 RGD:8554872
G Vps51 VPS51 subunit of GARP complex RGD:8554872
G Wdr13 WD repeat domain 13 JBrowse link X 15,112,663 15,123,825 RGD:8554872
G Xab2 XPA binding protein 2 JBrowse link 12 2,158,391 2,170,397 RGD:8554872
G Xkr7 XK related 7 JBrowse link 3 148,508,622 148,537,904 RGD:8554872
G Xpo7 exportin 7 JBrowse link 15 52,357,845 52,443,055 RGD:8554872
G Zap70 zeta chain of T cell receptor associated protein kinase 70 JBrowse link 9 43,331,149 43,353,097 RGD:8554872
G Zfp236 zinc finger protein 236 JBrowse link 18 79,447,384 79,543,271 RGD:8554872
G Zfp777 zinc finger protein 777 JBrowse link 4 77,684,488 77,710,998 RGD:8554872
esophageal atresia/tracheoesophageal fistula term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Brip1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link 10 73,507,009 73,632,742 RGD:8554872
G Gli2 GLI family zinc finger 2 JBrowse link 13 34,829,021 35,049,172 RGD:12801415
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:12801454
RGD:13592920
G Shh sonic hedgehog signaling molecule JBrowse link 4 718,538 727,691 RGD:12801416
syndromic microphthalmia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Six6 SIX homeobox 6 JBrowse link 6 95,816,749 95,821,729 RGD:11554173
RGD:8554872
G Sox2 SRY-box transcription factor 2 JBrowse link 2 121,165,137 121,167,545 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      gastrointestinal system disease 4612
        Digestive System Abnormalities 445
          esophageal atresia 119
            Arroyo Garcia Cimadevilla Syndrome 0
            esophageal atresia/tracheoesophageal fistula 5
            syndromic microphthalmia 3 2
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      gastrointestinal system disease 4612
        Gastrointestinal Diseases 2553
          esophageal disease 429
            esophageal atresia 119
              Arroyo Garcia Cimadevilla Syndrome 0
              esophageal atresia/tracheoesophageal fistula 5
              syndromic microphthalmia 3 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.