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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 11 partial duplication syndrome
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Accession:DOID:0070614 term browser browse the term
Definition:A chromosomal duplication syndrome that has_material_basis_in one or more extra copies of a region of chromosome 11. (DO)
Synonyms:exact_synonym: 11q Partial Trisomy;   Chromosome 11, Partial Trisomy 11q;   Chromosome 11, Partial Trisomy 11q13-qter;   Chromosome 11, Partial Trisomy 11q21-qter;   Chromosome 11, Partial Trisomy 11q23-qter;   Distal Trisomy 11q;   partial duplication of chromosome 11;   partial trisomy 11
 alt_id: DOID:9004084
 xref: MESH:C538294;   ORDO:262653


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chromosome 11 partial duplication syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aasdhppt aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:8,723,828...8,747,684
Ensembl chrNW_004955412:8,723,828...8,748,701
JBrowse link
G Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:20,256,467...20,270,172
Ensembl chrNW_004955412:20,256,293...20,271,278
JBrowse link
G Acad8 acyl-CoA dehydrogenase family member 8 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:35,067,637...35,083,889
Ensembl chrNW_004955412:35,067,702...35,083,889
JBrowse link
G Acat1 acetyl-CoA acetyltransferase 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:10,350,088...10,369,806
Ensembl chrNW_004955412:10,349,593...10,369,806
JBrowse link
G Acrv1 acrosomal vesicle protein 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:26,654,980...26,664,989
Ensembl chrNW_004955412:26,655,208...26,664,888
JBrowse link
G Adamts15 ADAM metallopeptidase with thrombospondin type 1 motif 15 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:31,336,759...31,360,905
Ensembl chrNW_004955412:31,336,759...31,360,957
JBrowse link
G Adamts8 ADAM metallopeptidase with thrombospondin type 1 motif 8 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:31,295,436...31,336,781
Ensembl chrNW_004955412:31,296,051...31,314,835
JBrowse link
G Alg9 ALG9 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:13,510,714...13,599,216
Ensembl chrNW_004955412:13,514,342...13,598,909
JBrowse link
G Alkbh8 alkB homolog 8, tRNA methyltransferase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:9,875,905...9,923,728 JBrowse link
G Ankk1 ankyrin repeat and kinase domain containing 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:15,036,071...15,046,118
Ensembl chrNW_004955412:15,035,388...15,046,139
JBrowse link
G Aplp2 amyloid beta precursor like protein 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:31,043,320...31,075,617
Ensembl chrNW_004955412:31,043,320...31,075,617
JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:18,170,331...18,172,298
Ensembl chrNW_004955412:18,170,331...18,172,298
JBrowse link
G Apoa4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:18,158,095...18,160,636
Ensembl chrNW_004955412:18,155,801...18,160,701
JBrowse link
G Apoa5 apolipoprotein A5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:18,128,861...18,131,752
Ensembl chrNW_004955412:18,129,603...18,131,115
JBrowse link
G Apoc3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:18,165,667...18,168,015
Ensembl chrNW_004955412:18,165,667...18,168,015
JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:19,718,534...19,750,340
Ensembl chrNW_004955412:19,718,132...19,753,361
JBrowse link
G Arhgap20 Rho GTPase activating protein 20 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:12,433,350...12,515,922
Ensembl chrNW_004955412:12,430,064...12,515,925
JBrowse link
G Arhgap32 Rho GTPase activating protein 32 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:29,910,395...30,113,959
Ensembl chrNW_004955412:29,910,395...30,203,340
JBrowse link
G Arhgef12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:21,344,671...21,497,951
Ensembl chrNW_004955412:21,355,575...21,497,951
JBrowse link
G Atm ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545
JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:19,555,736...19,563,094 JBrowse link
G B3gat1 beta-1,3-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:35,294,434...35,321,873
Ensembl chrNW_004955412:35,294,434...35,321,851
JBrowse link
G Bace1 beta-secretase 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:18,596,643...18,620,089
Ensembl chrNW_004955412:18,596,643...18,620,362
JBrowse link
G Barx2 BARX homeobox 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:30,345,837...30,418,186
Ensembl chrNW_004955412:30,345,311...30,418,232
JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:20,029,988...20,059,057
Ensembl chrNW_004955412:20,029,988...20,059,057
JBrowse link
G Bco2 beta-carotene oxygenase 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:13,838,260...13,872,886
Ensembl chrNW_004955412:13,837,782...13,872,886
JBrowse link
G Bsx brain specific homeobox ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:23,796,973...23,801,479
Ensembl chrNW_004955412:23,797,630...23,801,479
JBrowse link
G Btg4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:13,137,273...13,250,261
Ensembl chrNW_004955412:13,183,524...13,247,882
JBrowse link
G Bud13 BUD13 homolog ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:18,095,069...18,113,386
Ensembl chrNW_004955412:18,095,375...18,113,054
JBrowse link
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:20,419,754...20,421,541
Ensembl chrNW_004955412:20,415,287...20,421,541
JBrowse link
G C2cd2l C2CD2 like ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:20,214,915...20,232,260
Ensembl chrNW_004955412:20,223,890...20,236,709
JBrowse link
G Cadm1 cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:16,673,401...17,005,082
Ensembl chrNW_004955412:16,669,099...17,005,014
JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:20,307,011...20,388,539
Ensembl chrNW_004955412:20,307,011...20,388,539
JBrowse link
G Ccdc15 coiled-coil domain containing 15 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:26,014,842...26,089,556
Ensembl chrNW_004955412:26,005,090...26,089,615
JBrowse link
G Cd3d CD3d molecule ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:19,481,059...19,484,890
Ensembl chrNW_004955412:19,480,977...19,484,721
JBrowse link
G Cd3e CD3e molecule ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:19,464,666...19,476,425
Ensembl chrNW_004955412:19,464,613...19,478,990
JBrowse link
G Cd3g CD3g molecule ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:19,486,066...19,496,474
Ensembl chrNW_004955412:19,486,284...19,494,922
JBrowse link
G Cdon cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:27,004,391...27,093,968
Ensembl chrNW_004955412:27,003,919...27,065,989
JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:20,113,844...20,126,783
Ensembl chrNW_004955412:20,113,375...20,126,656
JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:18,627,023...18,695,685
Ensembl chrNW_004955412:18,634,074...18,694,346
JBrowse link
G Cfap68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:13,605,526...13,609,865
Ensembl chrNW_004955412:13,605,819...13,612,070
JBrowse link
G Chek1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:26,627,606...26,650,554 JBrowse link
G Cldn25 claudin 25 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955659:58,925...59,882 JBrowse link
G Clmp CXADR like membrane protein ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:23,876,003...23,984,603
Ensembl chrNW_004955412:23,876,003...23,970,119
JBrowse link
G Crtam cytotoxic and regulatory T cell molecule ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:23,676,171...23,706,250
Ensembl chrNW_004955412:23,675,906...23,709,262
JBrowse link
G Cryab crystallin alpha B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:13,626,018...13,629,495
Ensembl chrNW_004955412:13,625,363...13,640,426
JBrowse link
G Cul5 cullin 5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:10,266,072...10,336,156
Ensembl chrNW_004955412:10,256,381...10,336,156
JBrowse link
G CUNH11orf52 chromosome unknown C11orf52 homolog ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:13,635,088...13,640,604
Ensembl chrNW_004955412:13,634,794...13,640,962
JBrowse link
G CUNH11orf65 chromosome unknown C11orf65 homolog ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:10,533,174...10,567,364
Ensembl chrNW_004955412:10,533,441...10,567,612
JBrowse link
G CUNH11orf71 chromosome unknown C11orf71 homolog ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:15,995,551...15,996,159
Ensembl chrNW_004955412:15,995,601...15,995,983
JBrowse link
G CUNH11orf87 chromosome unknown C11orf87 homolog ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:11,447,935...11,455,153
Ensembl chrNW_004955412:11,448,134...11,455,153
JBrowse link
G Cwf19l2 CWF19 like cell cycle control factor 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:9,758,751...9,861,019
Ensembl chrNW_004955412:9,766,910...9,861,027
JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:20,016,768...20,031,635
Ensembl chrNW_004955412:20,016,587...20,031,629
JBrowse link
G Dcps decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:27,326,946...27,367,455
Ensembl chrNW_004955412:27,326,971...27,367,342
JBrowse link
G Ddx10 DEAD-box helicase 10 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:10,747,642...11,008,039
Ensembl chrNW_004955412:10,747,464...11,008,168
JBrowse link
G Ddx25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:26,952,655...26,973,758
Ensembl chrNW_004955412:26,952,239...26,972,100
JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:19,854,785...19,889,422
Ensembl chrNW_004955412:19,854,785...19,889,426
JBrowse link
G Dixdc1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:13,640,693...13,713,926
Ensembl chrNW_004955412:13,642,078...13,711,850
JBrowse link
G Dlat dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:13,718,091...13,746,220
Ensembl chrNW_004955412:13,718,067...13,744,239
JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:20,205,381...20,217,874
Ensembl chrNW_004955412:20,205,381...20,217,871
JBrowse link
G Drc12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:20,292,619...20,297,902
Ensembl chrNW_004955412:20,292,769...20,297,053
JBrowse link
G Drd2 dopamine receptor D2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:15,054,255...15,114,558
Ensembl chrNW_004955412:15,054,038...15,114,573
JBrowse link
G Dscaml1 DS cell adhesion molecule like 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:18,708,444...19,022,538
Ensembl chrNW_004955412:18,708,993...19,022,523
JBrowse link
G Ei24 EI24 autophagy associated transmembrane protein ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:26,574,814...26,586,154
Ensembl chrNW_004955412:26,574,866...26,585,161
JBrowse link
G Elmod1 ELMO domain containing 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:9,975,110...10,013,932
Ensembl chrNW_004955412:9,948,157...10,013,932
JBrowse link
G Ets1 ETS proto-oncogene 1, transcription factor ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:29,433,730...29,602,389
Ensembl chrNW_004955412:29,432,482...29,545,580
JBrowse link
G Exph5 exophilin 5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:10,604,853...10,674,683
Ensembl chrNW_004955412:10,604,772...10,674,749
JBrowse link
G Fam118b family with sequence similarity 118 member B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:27,239,420...27,287,097
Ensembl chrNW_004955412:27,238,517...27,287,097
JBrowse link
G Fdx1 ferredoxin 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:12,280,900...12,312,930
Ensembl chrNW_004955412:12,286,408...12,316,707
JBrowse link
G Fdxacb1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:13,601,032...13,605,418
Ensembl chrNW_004955412:13,598,231...13,605,395
JBrowse link
G Fez1 fasciculation and elongation protein zeta 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:26,477,995...26,530,686
Ensembl chrNW_004955412:26,477,301...26,531,354
JBrowse link
G Fli1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:29,653,621...29,773,412
Ensembl chrNW_004955412:29,654,459...29,775,903
JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:20,096,633...20,108,344
Ensembl chrNW_004955412:20,087,575...20,109,060
JBrowse link
G Foxred1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:27,293,467...27,300,522 JBrowse link
G Fxyd2 FXYD domain containing ion transport regulator 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:19,039,635...19,046,172
Ensembl chrNW_004955412:19,039,635...19,046,159
JBrowse link
G Fxyd6 FXYD domain containing ion transport regulator 6 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:19,053,627...19,090,582
Ensembl chrNW_004955412:19,052,801...19,090,582
JBrowse link
G Gramd1b GRAM domain containing 1B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:24,212,412...24,387,798
Ensembl chrNW_004955412:24,144,292...24,382,888
JBrowse link
G Gria4 glutamate ionotropic receptor AMPA type subunit 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:8,306,187...8,644,156
Ensembl chrNW_004955412:8,307,091...8,644,598
JBrowse link
G Grik4 glutamate ionotropic receptor kainate type subunit 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:21,563,879...21,932,292
Ensembl chrNW_004955412:21,563,595...21,934,427
JBrowse link
G Gucy1a2 guanylate cyclase 1 soluble subunit alpha 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:9,218,029...9,480,333
Ensembl chrNW_004955412:9,225,305...9,480,206
JBrowse link
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:25,981,235...25,998,296
Ensembl chrNW_004955412:25,980,460...25,998,482
JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:20,236,607...20,247,288
Ensembl chrNW_004955412:20,242,317...20,249,456
JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:20,192,519...20,202,635
Ensembl chrNW_004955412:20,192,522...20,202,635
JBrowse link
G Hoatz HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:13,254,671...13,275,832
Ensembl chrNW_004955412:13,258,703...13,275,876
JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:23,863,513...23,867,984
Ensembl chrNW_004955412:23,862,590...23,867,984
JBrowse link
G Hspb2 heat shock protein family B (small) member 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:13,628,098...13,631,575
Ensembl chrNW_004955412:13,628,098...13,631,727
JBrowse link
G Htr3a 5-hydroxytryptamine receptor 3A ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:15,589,117...15,602,211
Ensembl chrNW_004955412:15,589,117...15,602,211
JBrowse link
G Htr3b 5-hydroxytryptamine receptor 3B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:15,524,854...15,569,638
Ensembl chrNW_004955412:15,524,854...15,569,638
JBrowse link
G Hyls1 HYLS1 centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:26,937,460...26,949,571
Ensembl chrNW_004955412:26,937,654...26,951,636
JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:20,149,104...20,161,378
Ensembl chrNW_004955412:20,148,953...20,161,172
JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:19,697,995...19,710,965
Ensembl chrNW_004955412:19,697,995...19,711,665
JBrowse link
G Igsf9b immunoglobulin superfamily member 9B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:34,712,556...34,828,013
Ensembl chrNW_004955412:34,724,220...34,767,970
JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:19,182,536...19,197,083
Ensembl chrNW_004955412:19,182,029...19,193,971
JBrowse link
G Il18 interleukin 18 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:13,807,361...13,826,007
Ensembl chrNW_004955412:13,806,553...13,825,634
JBrowse link
G Jam3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:34,901,850...34,967,394
Ensembl chrNW_004955412:34,901,681...34,967,394
JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:19,363,501...19,402,213 JBrowse link
G Jhy junctional cadherin complex regulator ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:23,721,638...23,781,935
Ensembl chrNW_004955412:23,721,815...23,781,688
JBrowse link
G Kbtbd3 kelch repeat and BTB domain containing 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:8,703,075...8,723,628
Ensembl chrNW_004955412:8,703,075...8,713,929
JBrowse link
G Kcnj1 potassium inwardly rectifying channel subfamily J member 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:29,801,022...29,832,153
Ensembl chrNW_004955412:29,801,022...29,829,674
JBrowse link
G Kcnj5 potassium inwardly rectifying channel subfamily J member 5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:29,850,097...29,874,213
Ensembl chrNW_004955412:29,850,097...29,874,213
JBrowse link
G Kirrel3 kirre like nephrin family adhesion molecule 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:27,428,360...27,994,458
Ensembl chrNW_004955412:27,428,360...27,991,321
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:19,586,435...19,670,149
Ensembl chrNW_004955412:19,586,141...19,665,527
JBrowse link
G Layn layilin ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:13,282,871...13,298,214
Ensembl chrNW_004955412:13,280,327...13,297,833
JBrowse link
G LOC102014028 NXPE family member 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:16,107,277...16,115,577 JBrowse link
G LOC102025775 histone H2AX ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:20,203,173...20,204,714
Ensembl chrNW_004955412:20,203,772...20,204,203
JBrowse link
G LOC102026412 olfactory receptor 6X1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:24,492,889...24,493,833
Ensembl chrNW_004955412:24,492,889...24,493,827
JBrowse link
G LOC102027959 olfactory receptor 6M1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:24,524,602...24,525,549
Ensembl chrNW_004955412:24,524,602...24,525,549
JBrowse link
G LOC102028842 olfactory receptor 8D4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:24,557,873...24,558,811
Ensembl chrNW_004955412:24,557,873...24,558,808
JBrowse link
G LOC102029164 olfactory receptor 4D5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:24,570,586...24,582,450
Ensembl chrNW_004955412:24,581,506...24,582,450
JBrowse link
G Mcam melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:20,396,056...20,404,777
Ensembl chrNW_004955412:20,397,051...20,404,780
JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:20,421,935...20,426,760
Ensembl chrNW_004955412:20,421,935...20,426,760
JBrowse link
G Mpzl2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:19,422,532...19,434,596
Ensembl chrNW_004955412:19,422,537...19,434,596
JBrowse link
G Mpzl3 myelin protein zero like 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:19,402,064...19,420,431
Ensembl chrNW_004955412:19,402,064...19,420,431
JBrowse link
G Msantd2 Myb/SANT DNA binding domain containing 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:25,841,139...25,877,839
Ensembl chrNW_004955412:25,841,139...25,877,839
JBrowse link
G Msantd4 Myb/SANT DNA binding domain containing 4 with coiled-coils ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:8,654,182...8,666,254
Ensembl chrNW_004955412:8,652,193...8,666,347
JBrowse link
G Ncam1 neural cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:14,630,109...14,923,847
Ensembl chrNW_004955412:14,630,443...14,923,926
JBrowse link
G Ncapd3 non-SMC condensin II complex subunit D3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:34,967,464...35,035,103
Ensembl chrNW_004955412:34,963,854...35,035,111
JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:20,683,007...20,745,069
Ensembl chrNW_004955412:20,682,861...20,745,069
JBrowse link
G Nfrkb nuclear factor related to kappaB binding protein ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:30,817,151...30,848,992
Ensembl chrNW_004955412:30,813,769...30,849,001
JBrowse link
G Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:20,287,543...20,292,580
Ensembl chrNW_004955412:20,288,506...20,292,134
JBrowse link
G Nkapd1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:13,755,704...13,765,047
Ensembl chrNW_004955412:13,755,817...13,765,047
JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:20,275,767...20,287,414
Ensembl chrNW_004955412:20,275,917...20,287,414
JBrowse link
G Nnmt nicotinamide N-methyltransferase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:15,892,906...15,916,166 JBrowse link
G Npat nuclear protein, ataxia-telangiectasia locus ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:10,377,814...10,422,753
Ensembl chrNW_004955412:10,379,132...10,422,497
JBrowse link
G Nrgn neurogranin ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:25,809,512...25,818,237
Ensembl chrNW_004955412:25,809,512...25,818,237
JBrowse link
G Ntm neurotrimin ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:32,779,245...33,194,093
Ensembl chrNW_004955412:32,227,794...33,195,101
JBrowse link
G Nxpe2 neurexophilin and PC-esterase domain family member 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:16,201,898...16,244,478
Ensembl chrNW_004955412:16,201,852...16,245,970
JBrowse link
G Nxpe4 neurexophilin and PC-esterase domain family member 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:16,146,426...16,203,295
Ensembl chrNW_004955412:16,146,153...16,157,068
JBrowse link
G Oaf out at first homolog ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:21,235,927...21,251,100
Ensembl chrNW_004955412:21,235,927...21,251,182
JBrowse link
G Opcml opioid binding protein/cell adhesion molecule like ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:33,256,013...34,385,603
Ensembl chrNW_004955412:33,256,352...34,383,243
JBrowse link
G Pafah1b2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:18,471,621...18,494,082
Ensembl chrNW_004955412:18,474,199...18,494,082
JBrowse link
G Panx3 pannexin 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:25,676,286...25,684,841
Ensembl chrNW_004955412:25,676,286...25,684,841
JBrowse link
G Pate1 prostate and testis expressed 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:26,801,951...26,804,312
Ensembl chrNW_004955412:26,801,951...26,804,312
JBrowse link
G Pate2 prostate and testis expressed 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:26,842,719...26,844,208
Ensembl chrNW_004955412:26,842,682...26,844,315
JBrowse link
G Pate4 prostate and testis expressed 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:26,912,925...26,914,668 JBrowse link
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:18,530,378...18,553,725
Ensembl chrNW_004955412:18,530,504...18,554,220
JBrowse link
G Phldb1 pleckstrin homology like domain family B member 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:19,754,997...19,800,984
Ensembl chrNW_004955412:19,756,379...19,800,984
JBrowse link
G Pih1d2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:13,748,120...13,755,498
Ensembl chrNW_004955412:13,748,325...13,754,130
JBrowse link
G Pknox2 PBX/knotted 1 homeobox 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:26,214,671...26,468,737
Ensembl chrNW_004955412:26,372,846...26,468,926
JBrowse link
G Plet1 placenta expressed transcript 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:13,902,940...13,912,761 JBrowse link
G Poglut3 protein O-glucosyltransferase 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:10,582,169...10,598,153
Ensembl chrNW_004955412:10,579,511...10,598,153
JBrowse link
G Pou2af1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:13,131,229...13,167,150
Ensembl chrNW_004955412:13,131,168...13,156,128
JBrowse link
G Pou2af2 POU class 2 homeobox associating factor 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:13,076,854...13,079,095 JBrowse link
G Pou2af3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:13,090,206...13,098,642
Ensembl chrNW_004955412:13,090,206...13,098,826
JBrowse link
G Pou2f3 POU class 2 homeobox 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:21,261,389...21,339,602
Ensembl chrNW_004955412:21,260,993...21,342,584
JBrowse link
G Ppp2r1b protein phosphatase 2 scaffold subunit Abeta ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:13,458,078...13,494,583
Ensembl chrNW_004955412:13,458,136...13,494,585
JBrowse link
G Prdm10 PR/SET domain 10 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:30,855,909...30,929,998
Ensembl chrNW_004955412:30,852,969...30,917,510
JBrowse link
G Pts 6-pyruvoyltetrahydropterin synthase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:13,880,937...13,888,562
Ensembl chrNW_004955412:13,880,937...13,888,562
JBrowse link
G Pus3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:26,941,837...26,951,524
Ensembl chrNW_004955412:26,942,082...26,945,624
JBrowse link
G Rab39a RAB39A, member RAS oncogene family ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:10,224,074...10,240,270
Ensembl chrNW_004955412:10,224,074...10,240,270
JBrowse link
G Rbm7 RNA binding motif protein 7 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:15,996,206...16,004,177
Ensembl chrNW_004955412:15,996,206...16,006,525
JBrowse link
G Rdx radixin ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:12,100,436...12,184,444
Ensembl chrNW_004955412:12,100,359...12,172,545
JBrowse link
G Rexo2 RNA exonuclease 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:16,025,304...16,035,925
Ensembl chrNW_004955412:16,025,037...16,037,757
JBrowse link
G Rnf214 ring finger protein 214 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:18,555,881...18,594,341
Ensembl chrNW_004955412:18,555,887...18,593,815
JBrowse link
G Rnf26 ring finger protein 26 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:20,415,468...20,418,263
Ensembl chrNW_004955412:20,416,067...20,417,368
JBrowse link
G Robo3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:25,937,624...25,953,458
Ensembl chrNW_004955412:25,937,624...25,953,189
JBrowse link
G Robo4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:25,954,906...25,967,707
Ensembl chrNW_004955412:25,954,085...25,967,723
JBrowse link
G Rps25 ribosomal protein S25 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:20,126,769...20,129,071
Ensembl chrNW_004955412:20,126,775...20,128,748
JBrowse link
G Rpusd4 RNA pseudouridine synthase D4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:27,231,371...27,239,366
Ensembl chrNW_004955412:27,229,492...27,239,339
JBrowse link
G Sc5d sterol-C5-desaturase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:22,274,131...22,288,870
Ensembl chrNW_004955412:22,274,250...22,288,870
JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:19,341,008...19,353,563
Ensembl chrNW_004955412:19,340,947...19,354,062
JBrowse link
G Scn3b sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:24,391,764...24,412,912
Ensembl chrNW_004955412:24,388,366...24,412,604
JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:19,312,697...19,330,913
Ensembl chrNW_004955412:19,311,797...19,331,201
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:13,768,501...13,778,944
Ensembl chrNW_004955412:13,768,501...13,778,932
JBrowse link
G Siae sialic acid acetylesterase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:25,704,024...25,741,646
Ensembl chrNW_004955412:25,703,591...25,792,252
JBrowse link
G Sidt2 SID1 transmembrane family member 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:18,505,453...18,521,667
Ensembl chrNW_004955412:18,505,453...18,522,082
JBrowse link
G Sik2 salt inducible kinase 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:13,342,032...13,458,076
Ensembl chrNW_004955412:13,342,032...13,457,563
JBrowse link
G Sik3 SIK family kinase 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:18,177,175...18,280,687
Ensembl chrNW_004955412:18,177,175...18,280,748
JBrowse link
G Slc35f2 solute carrier family 35 member F2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:10,111,134...10,156,575
Ensembl chrNW_004955412:10,110,692...10,156,575
JBrowse link
G Slc37a2 solute carrier family 37 member 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:26,119,121...26,143,728
Ensembl chrNW_004955412:26,118,572...26,143,728
JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:20,133,652...20,140,134
Ensembl chrNW_004955412:20,133,652...20,139,542
JBrowse link
G Sln sarcolipin ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:10,057,481...10,062,178 JBrowse link
G Snx19 sorting nexin 19 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:31,747,519...31,791,022
Ensembl chrNW_004955412:31,747,760...31,791,044
JBrowse link
G Sorl1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:22,421,984...22,576,179
Ensembl chrNW_004955412:22,421,984...22,576,179
JBrowse link
G Spa17 sperm autoantigenic protein 17 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:25,741,369...25,753,681
Ensembl chrNW_004955412:25,741,228...25,753,903
JBrowse link
G Spata19 spermatogenesis associated 19 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:34,684,298...34,689,163
Ensembl chrNW_004955412:34,684,247...34,689,403
JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:27,287,359...27,293,362
Ensembl chrNW_004955412:27,287,368...27,293,362
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:31,091,313...31,129,050
Ensembl chrNW_004955412:31,090,504...31,129,050
JBrowse link
G St3gal4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:27,376,270...27,418,770
Ensembl chrNW_004955412:27,387,039...27,418,770
JBrowse link
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:26,593,142...26,624,143
Ensembl chrNW_004955412:26,595,666...26,623,621
JBrowse link
G Tagln transgelin ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:18,523,469...18,529,285
Ensembl chrNW_004955412:18,523,469...18,529,285
JBrowse link
G Tbcel tubulin folding cofactor E like ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:21,969,521...22,044,348
Ensembl chrNW_004955412:21,968,964...22,045,813
JBrowse link
G Tbrg1 transforming growth factor beta regulator 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:25,686,105...25,713,363
Ensembl chrNW_004955412:25,685,761...25,701,055
JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:22,062,618...22,132,037
Ensembl chrNW_004955412:22,062,618...22,131,442
JBrowse link
G Tex12 testis expressed 12 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:13,829,637...13,834,481
Ensembl chrNW_004955412:13,831,353...13,834,481
JBrowse link
G Thy1 Thy-1 cell surface antigen ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:20,480,284...20,484,958
Ensembl chrNW_004955412:20,480,284...20,484,958
JBrowse link
G Thyn1 thymocyte nuclear protein 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:35,061,874...35,067,631
Ensembl chrNW_004955412:35,061,874...35,067,352
JBrowse link
G Timm8b translocase of inner mitochondrial membrane 8 homolog B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:13,766,532...13,768,453
Ensembl chrNW_004955412:13,766,532...13,768,453
JBrowse link
G Tirap TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:27,303,548...27,315,031
Ensembl chrNW_004955412:27,312,489...27,315,031
JBrowse link
G Tlcd5 TLC domain containing 5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:21,344,464...21,350,675
Ensembl chrNW_004955412:21,344,261...21,352,074
JBrowse link
G Tmem218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:26,149,816...26,166,470
Ensembl chrNW_004955412:26,151,452...26,166,470
JBrowse link
G Tmem225 transmembrane protein 225 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:24,544,669...24,547,471
Ensembl chrNW_004955412:24,544,480...24,547,498
JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:19,690,048...19,695,258
Ensembl chrNW_004955412:19,690,048...19,695,258
JBrowse link
G Tmem45b transmembrane protein 45B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:30,776,765...30,814,512
Ensembl chrNW_004955412:30,776,580...30,814,512
JBrowse link
G Tmprss13 transmembrane serine protease 13 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:19,111,391...19,139,391
Ensembl chrNW_004955412:19,111,759...19,139,390
JBrowse link
G Tmprss4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:19,258,955...19,292,766
Ensembl chrNW_004955412:19,258,949...19,292,829
JBrowse link
G Tmprss5 transmembrane serine protease 5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:15,319,945...15,333,161
Ensembl chrNW_004955412:15,319,400...15,333,224
JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:20,129,154...20,133,043
Ensembl chrNW_004955412:20,129,154...20,133,043
JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:19,801,153...19,815,394
Ensembl chrNW_004955412:19,801,376...19,814,305
JBrowse link
G Trim29 tripartite motif containing 29 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:21,134,076...21,158,982
Ensembl chrNW_004955412:21,134,019...21,159,172
JBrowse link
G Ttc12 tetratricopeptide repeat domain 12 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:14,945,237...15,011,560
Ensembl chrNW_004955412:14,945,116...15,011,708
JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:19,670,590...19,672,495 JBrowse link
G Ubash3b ubiquitin associated and SH3 domain containing B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:23,518,851...23,667,617
Ensembl chrNW_004955412:23,518,240...23,667,697
JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:19,517,182...19,551,503
Ensembl chrNW_004955412:19,516,691...19,553,773
JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:20,086,991...20,089,062
Ensembl chrNW_004955412:20,084,801...20,089,289
JBrowse link
G Usp2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:20,435,778...20,461,898
Ensembl chrNW_004955412:20,433,302...20,457,493
JBrowse link
G Usp28 ubiquitin specific peptidase 28 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:15,425,136...15,469,819
Ensembl chrNW_004955412:15,426,159...15,443,023
JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:20,161,520...20,190,141
Ensembl chrNW_004955412:20,177,623...20,190,141
JBrowse link
G Vps26b VPS26, retromer complex component B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:35,035,730...35,061,441
Ensembl chrNW_004955412:35,035,208...35,061,441
JBrowse link
G Vsig2 V-set and immunoglobulin domain containing 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:25,818,501...25,823,393
Ensembl chrNW_004955412:25,818,566...25,823,224
JBrowse link
G Vwa5a von Willebrand factor A domain containing 5A ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:24,850,301...24,874,498
Ensembl chrNW_004955412:24,850,302...24,874,679
JBrowse link
G Zbtb16 zinc finger and BTB domain containing 16 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:15,668,332...15,845,384
Ensembl chrNW_004955412:15,668,332...15,845,372
JBrowse link
G Zbtb44 zinc finger and BTB domain containing 44 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:31,146,620...31,205,226
Ensembl chrNW_004955412:31,147,147...31,205,226
JBrowse link
G Zc3h12c zinc finger CCCH-type containing 12C ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:12,015,252...12,086,331
Ensembl chrNW_004955412:12,020,201...12,086,331
JBrowse link
G Znf202 zinc finger protein 202 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:24,469,313...24,481,551
Ensembl chrNW_004955412:24,469,313...24,481,568
JBrowse link
G Zpr1 ZPR1 zinc finger ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:18,117,957...18,127,552
Ensembl chrNW_004955412:18,116,531...18,127,552
JBrowse link
G Zw10 zw10 kinetochore protein ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chrNW_004955412:15,354,918...15,391,233
Ensembl chrNW_004955412:15,350,285...15,391,996
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14337
    syndrome 9848
      chromosomal duplication syndrome 1156
        Trisomy 333
          chromosome 11 partial duplication syndrome 217
Path 2
Term Annotations click to browse term
  disease 14337
    Developmental Disease 12614
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11878
        genetic disease 11608
          chromosomal disease 2918
            chromosomal duplication syndrome 1156
              Trisomy 333
                chromosome 11 partial duplication syndrome 217
paths to the root