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Term:chromosome 13q14 deletion syndrome
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Accession:DOID:0060391 term browser browse the term
Definition:A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13. (DO)
Synonyms:exact_synonym: deletion 13q14
 primary_id: OMIM:613884
 alt_id: RDO:0010092
 xref: ORDO:1587
For additional species annotation, visit the Alliance of Genome Resources.


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chromosome 13q14 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acod1 aconitate decarboxylase 1 JBrowse link 15 93,612,968 93,622,322 RGD:8554872
G Alg11 ALG11, alpha-1,2-mannosyltransferase JBrowse link 16 74,854,007 74,866,096 RGD:8554872
G Arl11 ADP-ribosylation factor like GTPase 11 JBrowse link 15 41,639,985 41,645,685 RGD:8554872
G Atp7b ATPase copper transporting beta JBrowse link 16 74,865,516 74,944,935 RGD:8554872
G Bora bora, aurora kinase A activator JBrowse link 15 83,442,217 83,463,737 RGD:8554872
G Cab39l calcium binding protein 39-like JBrowse link 15 39,745,124 39,849,022 RGD:8554872
G Ccdc70 coiled-coil domain containing 70 JBrowse link 16 74,958,897 74,963,925 RGD:8554872
G Cdadc1 cytidine and dCMP deaminase domain containing 1 JBrowse link 15 39,865,094 39,894,122 RGD:8554872
G Ckap2 cytoskeleton associated protein 2 JBrowse link 16 74,752,655 74,779,184 RGD:8554872
G Cln5 CLN5, intracellular trafficking protein JBrowse link 15 93,634,815 93,644,146 RGD:8554872
G Cnmd chondromodulin JBrowse link 15 61,923,291 61,947,840 RGD:8554872
G Commd6 COMM domain containing 6 JBrowse link 15 86,136,096 86,142,672 RGD:8554872
G Cysltr2 cysteinyl leukotriene receptor 2 JBrowse link 15 54,903,290 54,941,742 RGD:8554872
G Dach1 dachshund family transcription factor 1 JBrowse link 15 82,095,003 82,482,272 RGD:8554872
G Diaph3 diaphanous-related formin 3 JBrowse link 15 69,928,507 70,400,077 RGD:8554872
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease JBrowse link 15 83,466,330 83,494,107 RGD:8554872
G Dleu7 deleted in lymphocytic leukemia, 7 JBrowse link 15 45,360,505 45,378,840 RGD:8554872
G Ebpl EBP like JBrowse link 15 41,668,119 41,691,518 RGD:8554872
G Ednrb endothelin receptor type B JBrowse link 15 88,004,775 88,036,354 RGD:8554872
G Fam124a family with sequence similarity 124 member A JBrowse link 15 45,711,994 45,780,395 RGD:8554872
G Fbxl3 F-box and leucine-rich repeat protein 3 JBrowse link 15 93,647,307 93,667,395 RGD:8554872
G Fndc3a fibronectin type III domain containing 3a JBrowse link 15 54,378,865 54,582,954 RGD:8554872
G Ints6 integrator complex subunit 6 JBrowse link 15 45,844,050 45,929,996 RGD:8554872
G Itm2b integral membrane protein 2B JBrowse link 15 55,254,703 55,277,713 RGD:8554872
G Kcnrg potassium channel regulator JBrowse link 15 41,937,880 41,942,205 RGD:8554872
G Kctd12 potassium channel tetramerization domain containing 12 JBrowse link 15 87,384,632 87,390,627 RGD:8554872
G Klf12 Kruppel-like factor 12 JBrowse link 15 84,316,986 84,748,549 RGD:8554872
G Klf5 Kruppel-like factor 5 JBrowse link 15 83,703,796 83,722,921 RGD:8554872
G Klhl1 kelch-like family member 1 JBrowse link 15 80,270,846 80,714,176 RGD:8554872
G Kpna3 karyopherin subunit alpha 3 JBrowse link 15 41,696,356 41,770,112 RGD:8554872
G Lmo7 LIM domain 7 JBrowse link 15 86,242,911 86,458,512 RGD:8554872
G Lpar6 lysophosphatidic acid receptor 6 JBrowse link 15 55,126,953 55,128,762 RGD:8554872
G Med4 mediator complex subunit 4 JBrowse link 15 55,406,543 55,416,816 RGD:8554872
G Mycbp2 MYC binding protein 2, E3 ubiquitin protein ligase JBrowse link 15
15
87,405,472
93,678,062
87,450,812
93,901,556
RGD:8554872
G Mzt1 mitotic spindle organizing protein 1 JBrowse link 15 83,429,437 83,442,118 RGD:8554872
G Ndfip2 Nedd4 family interacting protein 2 JBrowse link 15 89,407,426 89,458,983 RGD:8554872
G Nek3 NIMA-related kinase 3 JBrowse link 16 74,781,371 74,806,567 RGD:8554872
G Nek5 NIMA-related kinase 5 JBrowse link 16 74,809,513 74,851,895 RGD:8554872
G Nudt15 nudix hydrolase 15 JBrowse link 15 55,417,774 55,456,698 RGD:8554872
G Olfm4 olfactomedin 4 JBrowse link 15 62,384,263 62,429,450 RGD:8554872
G Pcdh17 protocadherin 17 JBrowse link 15 67,555,835 67,647,990 RGD:8554872
G Pcdh20 protocadherin 20 JBrowse link 15 71,772,777 71,779,033 RGD:8554872
G Pcdh8 protocadherin 8 JBrowse link 15 62,196,469 62,201,498 RGD:8554872
G Pcdh9 protocadherin 9 JBrowse link 15 76,787,108 77,738,668 RGD:8554872
G Phf11 PHD finger protein 11 JBrowse link 15 38,692,817 39,683,417 RGD:8554872
G Pibf1 progesterone immunomodulatory binding factor 1 JBrowse link 15 83,494,110 83,663,202 RGD:8554872
G Pou4f1 POU class 4 homeobox 1 JBrowse link 15 88,618,255 88,622,712 RGD:8554872
G Prr20e proline rich 20E JBrowse link 4 121,040,810 121,053,910 RGD:8554872
G Rb1 RB transcriptional corepressor 1 JBrowse link 15 55,081,582 55,209,060 RGD:8554872
G Rbm26 RNA binding motif protein 26 JBrowse link 15 89,262,683 89,339,323 RGD:8554872
G Rcbtb1 RCC1 and BTB domain containing protein 1 JBrowse link 15 39,622,572 39,665,335 RGD:8554872
G Rcbtb2 RCC1 and BTB domain containing protein 2 JBrowse link 15 55,029,388 55,074,728 RGD:8554872
G Rnaseh2b ribonuclease H2, subunit B JBrowse link 15 45,422,010 45,472,792 RGD:8554872
G Rnf219 ring finger protein 219 JBrowse link 15 88,632,089 88,670,325 RGD:8554872
G Scel sciellin JBrowse link 15 87,689,190 87,820,731 RGD:8554872
G Serpine3 serpin family E member 3 JBrowse link 15 45,827,983 45,855,952 RGD:8554872
G Setdb2 SET domain bifurcated histone lysine methyltransferase 2 JBrowse link 15 38,699,135 39,745,035 RGD:8554872
G Slain1 SLAIN motif family, member 1 JBrowse link 15 87,862,832 87,906,472 RGD:8554872
G Slitrk1 SLIT and NTRK-like family, member 1 JBrowse link 15 93,303,382 93,307,420 RGD:8554872
G Slitrk6 SLIT and NTRK-like family, member 6 JBrowse link 15 95,507,632 95,514,259 RGD:8554872
G Spry2 sprouty RTK signaling antagonist 2 JBrowse link 15 90,172,769 90,177,823 RGD:8554872
G Spryd7 SPRY domain containing 7 JBrowse link 15 41,871,144 41,890,879 RGD:8554872
G Sucla2 succinate-CoA ligase ADP-forming beta subunit JBrowse link 15 55,461,695 55,516,954 RGD:8554872
G Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone JBrowse link 15 61,873,158 61,913,983 RGD:8554872
G Tbc1d4 TBC1 domain family, member 4 JBrowse link 15 85,927,978 86,105,829 RGD:8554872
G Tdrd3 tudor domain containing 3 JBrowse link 15 70,732,164 70,864,855 RGD:8554872
G Thsd1 thrombospondin type 1 domain containing 1 JBrowse link 16 74,680,621 74,712,368 RGD:8554872
G Trim13 tripartite motif-containing 13 JBrowse link 15 41,897,191 41,936,545 RGD:8554872
G Uchl3 ubiquitin C-terminal hydrolase L3 JBrowse link 15 86,153,624 86,198,127 RGD:8554872
G Vps36 vacuolar protein sorting 36 homolog JBrowse link 16 74,719,642 74,743,921 RGD:8554872
G Wdfy2 WD repeat and FYVE domain containing 2 JBrowse link 15 46,008,613 46,134,319 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Chromosome 13q Deletion Syndrome 71
        chromosome 13q14 deletion syndrome 71
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          eye and adnexa disease 1971
            eye disease 1971
              retinal disease 704
                Retinal Neoplasms 77
                  retinal cancer 77
                    retinal cell cancer 77
                      retinoblastoma 77
                        chromosome 13q14 deletion syndrome 71
paths to the root