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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 4933427D06Rik RIKEN cDNA 4933427D06 gene ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 6:89,073,092...89,087,021
Ensembl chr 6:89,073,092...89,087,013 		JBrowse link
G Acod1 aconitate decarboxylase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,284,448...103,294,009
Ensembl chr14:103,284,413...103,294,009 		JBrowse link
G Alg11 ALG11 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,550,731...22,561,643
Ensembl chr 8:22,550,737...22,561,643 		JBrowse link
G Arl11 ADP-ribosylation factor-like 11 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,543,740...61,549,386
Ensembl chr14:61,547,202...61,549,385 		JBrowse link
G Atp7b ATPase, Cu++ transporting, beta polypeptide ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,482,799...22,550,347
Ensembl chr 8:22,482,801...22,550,321 		JBrowse link
G Bora bora, aurora kinase A activator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,283,880...99,311,976
Ensembl chr14:99,283,658...99,311,976 		JBrowse link
G Cab39l calcium binding protein 39-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,678,400...59,786,353
Ensembl chr14:59,678,421...59,823,213 		JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,459,791...22,464,071
Ensembl chr 8:22,459,791...22,464,057 		JBrowse link
G Cdadc1 cytidine and dCMP deaminase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,796,837...59,835,433
Ensembl chr14:59,796,837...59,835,408 		JBrowse link
G Ckap2 cytoskeleton associated protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,658,168...22,675,835
Ensembl chr 8:22,658,176...22,675,835 		JBrowse link
G Cln5 ceroid-lipofuscinosis, neuronal 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,307,679...103,315,064
Ensembl chr14:103,307,652...103,315,064 		JBrowse link
G Cnmd chondromodulin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,875,126...79,899,596
Ensembl chr14:79,875,130...79,899,610 		JBrowse link
G Commd6 COMM domain containing 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,871,202...101,877,907
Ensembl chr14:101,870,417...101,878,122 		JBrowse link
G Cysltr2 cysteinyl leukotriene receptor 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,263,043...73,286,554
Ensembl chr14:73,263,043...73,286,554 		JBrowse link
G Dach1 dachshund family transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:98,024,294...98,407,208
Ensembl chr14:98,024,289...98,407,201 		JBrowse link
G Diaph3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:86,892,793...87,378,683
Ensembl chr14:86,892,803...87,378,671 		JBrowse link
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,314,070...99,337,217
Ensembl chr14:99,312,642...99,337,206 		JBrowse link
G Dleu7 deleted in lymphocytic leukemia, 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,513,678...62,530,428
Ensembl chr14:62,513,680...62,530,496 		JBrowse link
G Ebpl emopamil binding protein-like ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,577,212...61,597,894
Ensembl chr14:61,569,191...61,597,888 		JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:104,052,055...104,081,764
Ensembl chr14:104,052,061...104,081,838 		JBrowse link
G Fam124a family with sequence similarity 124, member A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,793,186...62,845,935
Ensembl chr14:62,793,186...62,845,935 		JBrowse link
G Fbxl3 F-box and leucine-rich repeat protein 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,318,470...103,337,016
Ensembl chr14:103,317,675...103,337,002 		JBrowse link
G Fndc3a fibronectin type III domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:72,775,388...72,948,141
Ensembl chr14:72,775,386...72,947,443 		JBrowse link
G Gm4131 predicted gene 4131 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,699,937...62,718,604
Ensembl chr14:62,700,863...62,804,370 		JBrowse link
G Gm45935 predicted gene, 45935 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,618,282...59,678,329 JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,913,774...62,998,617
Ensembl chr14:62,913,779...62,998,618 		JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,599,666...73,622,729
Ensembl chr14:73,599,666...73,622,729 		JBrowse link
G Kcnrg potassium channel regulator ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,844,905...61,850,282
Ensembl chr14:61,844,906...61,850,275 		JBrowse link
G Kctd12 potassium channel tetramerisation domain containing 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,214,017...103,220,073
Ensembl chr14:103,214,017...103,220,073 		JBrowse link
G Klf12 Kruppel-like transcription factor 12 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:100,103,617...100,719,681
Ensembl chr14:100,108,068...100,522,115 		JBrowse link
G Klf5 Kruppel-like transcription factor 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,536,127...99,550,848
Ensembl chr14:99,536,127...99,552,472 		JBrowse link
G Klhl1 kelch-like 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:96,342,695...96,756,525
Ensembl chr14:96,340,172...96,756,538 		JBrowse link
G Kpna3 karyopherin subunit alpha 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,602,635...61,677,396
Ensembl chr14:61,602,660...61,677,323 		JBrowse link
G Krtap21-1 keratin associated protein 21-1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr16:89,199,915...89,200,662
Ensembl chr16:89,200,106...89,200,756 		JBrowse link
G Lmo7 LIM domain only 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,967,353...102,172,144
Ensembl chr14:101,967,386...102,172,146 		JBrowse link
G Lpar6 lysophosphatidic acid receptor 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,475,331...73,477,798
Ensembl chr14:73,475,335...73,480,734 		JBrowse link
G Med4 mediator complex subunit 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,747,489...73,755,985
Ensembl chr14:73,747,465...73,756,289 		JBrowse link
G Mir15a microRNA 15a ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,869,476...61,869,559
Ensembl chr14:61,869,476...61,869,559 		JBrowse link
G Mir16-1 microRNA 16-1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,869,329...61,869,421
Ensembl chr14:61,869,329...61,869,421 		JBrowse link
G Mir759 microRNA 759 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,975,871...79,975,968
Ensembl chr14:79,975,871...79,975,968 		JBrowse link
G Mycbp2 MYC binding protein 2, E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,350,847...103,584,276
Ensembl chr14:103,350,847...103,584,250 		JBrowse link
G Mzt1 mitotic spindle organizing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,271,980...99,283,898
Ensembl chr14:99,271,980...99,283,570 		JBrowse link
G Ndfip2 Nedd4 family interacting protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:105,495,975...105,546,732
Ensembl chr14:105,496,008...105,546,732 		JBrowse link
G Nek3 NIMA (never in mitosis gene a)-related expressed kinase 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,618,299...22,657,009
Ensembl chr 8:22,618,299...22,656,451 		JBrowse link
G Nek5 NIMA (never in mitosis gene a)-related expressed kinase 5 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,563,631...22,615,443
Ensembl chr 8:22,563,632...22,615,069 		JBrowse link
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,756,320...73,785,682
Ensembl chr14:73,756,317...73,785,682 		JBrowse link
G Obi1 ORC ubiquitin ligase 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:104,714,970...104,760,148
Ensembl chr14:104,714,972...104,760,081 		JBrowse link
G Olfm4 olfactomedin 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:80,237,742...80,260,581
Ensembl chr14:80,221,521...80,260,579 		JBrowse link
G Pcdh17 protocadherin 17 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:84,680,626...84,775,005
Ensembl chr14:84,681,003...84,776,442 		JBrowse link
G Pcdh20 protocadherin 20 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:88,702,183...88,708,832
Ensembl chr14:88,702,179...88,708,832 		JBrowse link
G Pcdh8 protocadherin 8 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:80,004,224...80,008,752
Ensembl chr14:80,004,215...80,008,752 		JBrowse link
G Pcdh9 protocadherin 9 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:93,251,136...94,132,619
Ensembl chr14:93,250,846...94,128,115 		JBrowse link
G Phf11d PHD finger protein 11D ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,584,646...59,608,004
Ensembl chr14:59,584,856...59,602,919 		JBrowse link
G Pibf1 progesterone immunomodulatory binding factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:99,336,892...99,492,335
Ensembl chr14:99,336,860...99,491,929 		JBrowse link
G Pou4f1 POU domain, class 4, transcription factor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:104,699,111...104,705,554
Ensembl chr14:104,699,112...104,705,435 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262 		JBrowse link
G Rbm26 RNA binding motif protein 26 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:105,344,187...105,418,475
Ensembl chr14:105,344,187...105,414,763 		JBrowse link
G Rcbtb1 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,438,471...59,474,716
Ensembl chr14:59,438,658...59,474,714 		JBrowse link
G Rcbtb2 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,376,185...73,421,495
Ensembl chr14:73,360,477...73,445,283 		JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,569,517...62,610,445
Ensembl chr14:62,530,038...62,610,441 		JBrowse link
G Scel sciellin ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,750,499...103,850,782
Ensembl chr14:103,750,778...103,850,233 		JBrowse link
G Serpine3 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:62,900,743...62,929,692
Ensembl chr14:62,901,116...62,929,692 		JBrowse link
G Setdb2 SET domain, bifurcated 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:59,639,458...59,678,329
Ensembl chr14:59,639,458...59,678,333 		JBrowse link
G Slain1 SLAIN motif family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:103,887,664...103,942,343
Ensembl chr14:103,887,664...103,942,343 		JBrowse link
G Slitrk1 SLIT and NTRK-like family, member 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:109,147,420...109,151,671
Ensembl chr14:109,146,232...109,151,590 		JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:110,984,770...110,992,640
Ensembl chr14:110,986,012...110,992,581 		JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:106,129,381...106,134,559
Ensembl chr14:106,129,381...106,134,253 		JBrowse link
G Spryd7 SPRY domain containing 7 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,769,300...61,794,335
Ensembl chr14:61,769,442...61,794,335 		JBrowse link
G Sucla2 succinate-Coenzyme A ligase, ADP-forming, beta subunit ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:73,790,226...73,833,584
Ensembl chr14:73,762,759...73,833,582 		JBrowse link
G Sugt1 SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:79,825,100...79,868,237
Ensembl chr14:79,825,131...79,872,636 		JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,679,800...101,846,717
Ensembl chr14:101,679,796...101,846,627 		JBrowse link
G Tdrd3 tudor domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:87,647,598...87,782,944
Ensembl chr14:87,654,075...87,782,940 		JBrowse link
G Thsd1 thrombospondin, type I, domain 1 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,711,623...22,752,973
Ensembl chr 8:22,717,329...22,751,350 		JBrowse link
G Trim13 tripartite motif-containing 13 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:61,835,675...61,847,736
Ensembl chr14:61,835,696...61,843,395 		JBrowse link
G Uchl3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:101,891,387...101,933,561
Ensembl chr14:101,891,403...101,933,561 		JBrowse link
G Vps36 vacuolar protein sorting 36 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr 8:22,682,849...22,710,969
Ensembl chr 8:22,682,825...22,710,859 		JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome ClinVar NCBI chr14:63,075,110...63,198,958
Ensembl chr14:63,075,127...63,198,958 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16121
    syndrome 10387
      chromosomal deletion syndrome 1510
        chromosome 13q14 deletion syndrome 77
Path 2
Term Annotations click to browse term
  disease 16121
    disease of cellular proliferation 7571
      cancer 5523
        organ system cancer 5290
          nervous system cancer 965
            central nervous system cancer 781
              brain cancer 765
                supratentorial cancer 492
                  cerebrum cancer 461
                    malignant astrocytoma 457
                      astroblastoma 294
                        retinoblastoma 93
                          chromosome 13q14 deletion syndrome 77
paths to the root