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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: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
 xref: ORDO:1587


show annotations for term's descendants           Sort by:
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACOD1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:49,077,152...49,088,218
Ensembl chr11:49,077,492...49,087,104 		JBrowse link
G ALG11 ALG11 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,851,352...15,876,452
Ensembl chr11:15,857,367...15,876,405 		JBrowse link
G ARL11 ADP ribosylation factor like GTPase 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,097,723...18,100,425
Ensembl chr11:18,095,974...18,099,819 		JBrowse link
G ATP7B ATPase copper transporting beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,892,549...15,942,070
Ensembl chr11:15,876,612...15,942,064 		JBrowse link
G BORA BORA aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:45,017,651...45,045,127
Ensembl chr11:45,018,333...45,045,126 		JBrowse link
G CAB39L calcium binding protein 39 like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,297,669...18,400,398
Ensembl chr11:18,313,796...18,401,235 		JBrowse link
G CCDC70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,976,814...15,978,050
Ensembl chr11:15,977,289...15,977,945 		JBrowse link
G CDADC1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,467,508...18,518,137
Ensembl chr11:18,458,301...18,518,146 		JBrowse link
G CKAP2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,751,717...15,767,068
Ensembl chr11:15,751,808...15,768,046 		JBrowse link
G CLN5 CLN5 intracellular trafficking protein ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:49,105,822...49,128,425
Ensembl chr11:49,105,878...49,129,886 		JBrowse link
G CNMD chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:25,959,192...25,994,773
Ensembl chr11:25,961,926...25,994,651 		JBrowse link
G COMMD6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:47,795,110...47,818,543
Ensembl chr11:47,543,814...47,818,561 		JBrowse link
G CYSLTR2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,988,665...19,011,015
Ensembl chr11:18,987,174...19,011,015 		JBrowse link
G DACH1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:43,765,386...44,187,766
Ensembl chr11:43,764,271...44,187,821 		JBrowse link
G DIAPH3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:32,492,735...32,994,854
Ensembl chr11:32,492,740...32,994,844 		JBrowse link
G DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:45,046,040...45,075,973
Ensembl chr11:45,044,508...45,075,963 		JBrowse link
G DLEU7 deleted in lymphocytic leukemia 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:16,970,802...16,990,609
Ensembl chr11:16,972,554...16,989,488 		JBrowse link
G EBPL EBP like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,039,978...18,150,729
Ensembl chr11:18,040,011...18,072,633 		JBrowse link
G EDNRB endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884 		JBrowse link
G FAM124A family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:16,572,298...16,658,094
Ensembl chr11:16,572,302...16,658,162 		JBrowse link
G FBXL3 F-box and leucine rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:49,131,663...49,151,380
Ensembl chr11:49,131,665...49,151,009 		JBrowse link
G FNDC3A fibronectin type III domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,564,280...18,757,742
Ensembl chr11:18,564,280...18,757,869 		JBrowse link
G INTS6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:16,373,376...16,468,246
Ensembl chr11:16,375,452...16,465,635 		JBrowse link
G ITM2B integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:19,349,088...19,377,931
Ensembl chr11:19,349,134...19,377,917 		JBrowse link
G KCNRG potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:17,784,243...17,796,826
Ensembl chr11:17,784,998...17,794,710 		JBrowse link
G KCTD12 potassium channel tetramerization domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:49,025,134...49,033,208
Ensembl chr11:49,025,131...49,031,309 		JBrowse link
G KLF12 KLF transcription factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:45,981,096...46,655,472
Ensembl chr11:45,985,564...46,459,791 		JBrowse link
G KLF5 KLF transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:45,370,009...45,386,673
Ensembl chr11:45,369,810...45,388,314 		JBrowse link
G KLHL1 kelch like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:42,033,842...42,420,931
Ensembl chr11:42,033,851...42,419,734 		JBrowse link
G KPNA3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:17,948,210...18,033,818
Ensembl chr11:17,947,850...18,033,787 		JBrowse link
G LMO7 LIM domain 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:47,911,076...48,133,449
Ensembl chr11:48,072,159...48,133,446 		JBrowse link
G LOC100155738 protocadherin-8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:26,127,398...26,133,481
Ensembl chr11:26,127,401...26,132,123 		JBrowse link
G LOC106505279 uncharacterized LOC106505279 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:16,021,127...16,034,650
Ensembl chr11:15,997,827...16,034,395 		JBrowse link
G LPAR6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:19,216,305...19,220,913
Ensembl chr11:19,219,077...19,220,347 		JBrowse link
G MED4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:19,551,858...19,566,915
Ensembl chr11:19,551,863...19,566,926 		JBrowse link
G MIR15A microRNA mir-15a ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:17,757,463...17,757,541
Ensembl chr11:17,757,460...17,757,554 		JBrowse link
G MIR16-2 microRNA mir-16-2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:17,757,606...17,757,684
Ensembl chr11:17,757,601...17,757,687 		JBrowse link
G MLNR motilin receptor ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,541,958...18,544,111
Ensembl chr11:18,542,028...18,544,112 		JBrowse link
G MYCBP2 MYC binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:49,163,969...49,432,865
Ensembl chr11:49,163,684...49,432,583 		JBrowse link
G MZT1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:45,000,735...45,019,009
Ensembl chr11:44,999,320...45,018,862 		JBrowse link
G NDFIP2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:51,493,981...51,560,305
Ensembl chr11:51,420,166...51,560,305 		JBrowse link
G NEK3 NIMA related kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,772,578...15,798,424
Ensembl chr11:15,772,844...15,798,420 		JBrowse link
G NEK5 NIMA related kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,799,068...15,862,236
Ensembl chr11:15,806,017...15,862,228 		JBrowse link
G NUDT15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:19,572,963...19,584,565
Ensembl chr11:19,572,644...19,584,528 		JBrowse link
G OBI1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:50,741,893...50,786,824
Ensembl chr11:50,740,916...50,786,774 		JBrowse link
G OLFM4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:26,252,948...26,375,531
Ensembl chr11:26,350,203...26,375,716 		JBrowse link
G PCDH17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:30,510,779...30,611,732
Ensembl chr11:30,511,275...30,611,727 		JBrowse link
G PCDH20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:34,384,507...34,390,265
Ensembl chr11:34,384,511...34,389,730 		JBrowse link
G PCDH9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:38,522,221...39,455,166
Ensembl chr11:38,523,033...39,453,741 		JBrowse link
G PHF11 PHD finger protein 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,205,073...18,252,082
Ensembl chr11:18,205,078...18,251,948 		JBrowse link
G PIBF1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:45,076,046...45,362,708
Ensembl chr11:45,076,062...45,362,887 		JBrowse link
G POU4F1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:50,729,746...50,732,626
Ensembl chr11:50,730,428...50,732,539 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690 		JBrowse link
G RBM26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:51,337,388...51,421,746
Ensembl chr11:51,339,629...51,420,512 		JBrowse link
G RCBTB1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,132,013...18,197,759
Ensembl chr11:18,114,767...18,197,747 		JBrowse link
G RCBTB2 RCC1 and BTB domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:19,081,841...19,182,488
Ensembl chr11:19,106,531...19,182,484 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:16,825,799...16,911,959
Ensembl chr11:16,825,128...16,911,969 		JBrowse link
G SCEL sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:49,651,589...49,777,777
Ensembl chr11:49,651,673...49,775,429 		JBrowse link
G SERPINE3 serpin family E member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:16,465,521...16,500,580
Ensembl chr11:16,466,475...16,500,541 		JBrowse link
G SETDB2 SET domain bifurcated histone lysine methyltransferase 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:18,252,525...18,298,234
Ensembl chr11:18,252,524...18,297,826 		JBrowse link
G SLAIN1 SLAIN motif family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:49,807,976...49,886,829
Ensembl chr11:49,807,994...49,886,822 		JBrowse link
G SLITRK1 SLIT and NTRK like family member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:54,950,669...54,955,768
Ensembl chr11:54,950,676...54,955,949 		JBrowse link
G SLITRK6 SLIT and NTRK like family member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:56,508,713...56,522,270
Ensembl chr11:56,508,767...56,522,197 		JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:52,153,695...52,158,766
Ensembl chr11:52,153,704...52,159,156 		JBrowse link
G SPRYD7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:17,849,011...17,870,090
Ensembl chr11:17,848,852...17,872,257 		JBrowse link
G SUCLA2 succinate-CoA ligase ADP-forming subunit beta ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:19,616,415...19,670,667
Ensembl chr11:19,616,495...19,670,662 		JBrowse link
G SUGT1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:25,905,442...25,960,665
Ensembl chr11:25,906,010...25,954,210 		JBrowse link
G TBC1D4 TBC1 domain family member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:47,543,808...47,760,928
Ensembl chr11:47,543,815...47,828,208 		JBrowse link
G TDRD3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:33,257,556...33,440,131
Ensembl chr11:33,258,063...33,440,123 		JBrowse link
G THSD1 thrombospondin type 1 domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,668,435...15,698,031
Ensembl chr11:15,668,813...15,697,872 		JBrowse link
G TRIM13 tripartite motif containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:17,785,031...17,850,005
Ensembl chr11:17,793,784...17,849,732 		JBrowse link
G UCHL3 ubiquitin C-terminal hydrolase L3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:47,829,037...47,885,800
Ensembl chr11:47,828,421...47,887,629 		JBrowse link
G VPS36 vacuolar protein sorting 36 homolog ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:15,701,370...15,735,469
Ensembl chr11:15,701,373...15,735,474 		JBrowse link
G WDFY2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr11:16,086,872...16,272,513
Ensembl chr11:16,092,698...16,195,134 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15274
    syndrome 9945
      chromosomal deletion syndrome 1459
        chromosome 13q14 deletion syndrome 74
Path 2
Term Annotations click to browse term
  disease 15274
    disease of cellular proliferation 7173
      cancer 5210
        organ system cancer 4979
          nervous system cancer 924
            central nervous system cancer 755
              brain cancer 740
                supratentorial cancer 476
                  cerebrum cancer 448
                    malignant astrocytoma 445
                      astroblastoma 284
                        retinoblastoma 90
                          chromosome 13q14 deletion syndrome 74
paths to the root