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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:Aneuploidy
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Accession:DOID:9008692 term browser browse the term
Definition:The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
Synonyms:exact_synonym: Aneuploid;   Aneuploid Cell;   Aneuploid Cells;   Aneuploidies;   Aneuploids
 primary_id: MESH:D000782;   RDO:0000372



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Aneuploidy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AURKA aurora kinase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:24976383 NCBI chr17:56,954,838...56,972,435 JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B susceptibility ISO DNA:missense mutation: ; mosaic variegated aneuploidy syndrome, OMIM:257300 RGD PMID:15475955 RGD:1600540 NCBI chr 1:131,093,026...131,143,840
Ensembl chr 1:131,092,958...131,143,794
JBrowse link
G CKAP5 cytoskeleton associated protein 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24976383 NCBI chr 2:15,680,723...15,790,580
Ensembl chr 2:15,680,787...15,790,569
JBrowse link
G KIF11 kinesin family member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17974955 NCBI chr14:104,125,839...104,177,381
Ensembl chr14:104,125,898...104,177,379
JBrowse link
G TLX1 T cell leukemia homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20972433 NCBI chr14:112,206,964...112,213,957
Ensembl chr14:112,207,360...112,213,955
JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553959 NCBI chr16:79,458,843...79,473,705
Ensembl chr16:79,458,847...79,473,712
JBrowse link
16p11.2 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDOA aldolase, fructose-bisphosphate A ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,246,036...18,260,167
Ensembl chr 3:18,253,384...18,260,163
JBrowse link
G ASPHD1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,120,915...18,124,519 JBrowse link
G ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 3:18,545,064...18,568,312
Ensembl chr 3:18,545,071...18,568,310
JBrowse link
G ATXN2L ataxin 2 like ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 3:18,506,082...18,519,060
Ensembl chr 3:18,506,052...18,519,056
JBrowse link
G BOLA2B bolA family member 2B ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr 3:18,345,691...18,351,508 JBrowse link
G C3H16orf54 chromosome 3 C16orf54 homolog ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,011,402...18,014,281 JBrowse link
G C3H16orf92 chromosome 3 C16orf92 homolog ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,222,923...18,223,528 JBrowse link
G CD19 CD19 molecule ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 3:18,592,785...18,601,273
Ensembl chr 3:18,592,880...18,601,263
JBrowse link
G CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,087,497...18,095,015
Ensembl chr 3:18,084,549...18,091,798
JBrowse link
G CORO1A coronin 1A ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,336,813...18,342,381
Ensembl chr 3:18,336,898...18,342,396
JBrowse link
G DOC2A double C2 domain alpha ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,211,264...18,216,096
Ensembl chr 3:18,210,965...18,216,102
JBrowse link
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,282,574...18,291,307
Ensembl chr 3:18,282,889...18,292,092
JBrowse link
G HIRIP3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,198,809...18,201,907
Ensembl chr 3:18,198,807...18,202,089
JBrowse link
G INO80E INO80 complex subunit E ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,202,092...18,212,187
Ensembl chr 3:18,202,134...18,212,186
JBrowse link
G KCTD13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,124,628...18,141,589
Ensembl chr 3:18,124,573...18,141,565
JBrowse link
G KIF22 kinesin family member 22 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,023,104...18,041,732
Ensembl chr 3:18,023,096...18,041,730
JBrowse link
G LAT linker for activation of T cells ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 3:18,638,992...18,644,353
Ensembl chr 3:18,639,151...18,644,348
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567
JBrowse link
G MAZ MYC associated zinc finger protein ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,043,032...18,047,531
Ensembl chr 3:18,042,007...18,047,530
JBrowse link
G MVP major vault protein ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,056,548...18,081,169
Ensembl chr 3:18,057,177...18,081,155
JBrowse link
G NFATC2IP nuclear factor of activated T cells 2 interacting protein ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 3:18,609,943...18,624,150
Ensembl chr 3:18,609,912...18,622,640
JBrowse link
G PAGR1 PAXIP1 associated glutamate rich protein 1 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,052,679...18,056,920
Ensembl chr 3:18,052,935...18,056,837
JBrowse link
G PPP4C protein phosphatase 4 catalytic subunit ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,262,817...18,271,588
Ensembl chr 3:18,262,823...18,271,586
JBrowse link
G PRRT2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,048,614...18,052,481
Ensembl chr 3:18,048,618...18,052,480
JBrowse link
G QPRT quinolinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:17,987,223...18,001,712
Ensembl chr 3:17,987,242...18,001,711
JBrowse link
G RABEP2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 3:18,568,264...18,586,259
Ensembl chr 3:18,568,266...18,585,925
JBrowse link
G SEZ6L2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,098,109...18,119,522
Ensembl chr 3:18,098,102...18,119,558
JBrowse link
G SFTPA1 surfactant protein A1 ISO ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 NCBI chr14:82,091,178...82,095,393
Ensembl chr14:82,091,178...82,095,393
JBrowse link
G SH2B1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 3:18,533,282...18,543,133
Ensembl chr 3:18,524,820...18,543,135
JBrowse link
G SLX1A SLX1 homolog A, structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr 3:18,346,501...18,349,509 JBrowse link
G SPN sialophorin ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:17,978,731...17,982,222
Ensembl chr 3:17,978,801...17,982,864
JBrowse link
G SPNS1 SPNS lysolipid transporter 1, lysophospholipid ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 3:18,629,646...18,638,442
Ensembl chr 3:18,629,646...18,639,214
JBrowse link
G TAOK2 TAO kinase 2 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,178,347...18,198,092
Ensembl chr 3:18,177,737...18,198,085
JBrowse link
G TBX6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,271,983...18,277,864
Ensembl chr 3:18,271,983...18,277,580
JBrowse link
G TLCD3B TLC domain containing 3B ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,224,652...18,231,416
Ensembl chr 3:18,223,875...18,231,844
JBrowse link
G TMEM219 transmembrane protein 219 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,166,771...18,177,834
Ensembl chr 3:18,167,923...18,176,563
JBrowse link
G TUFM Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 3:18,521,119...18,524,705
Ensembl chr 3:18,521,128...18,524,959
JBrowse link
G YPEL3 yippee like 3 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,277,999...18,281,342
Ensembl chr 3:18,278,002...18,281,298
JBrowse link
G ZG16 zymogen granule protein 16 ISO ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,018,866...18,019,501 JBrowse link
16Q24.3 Microdeletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSF3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:663,201...708,800
Ensembl chr 6:663,123...709,186
JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:455,856...612,878
Ensembl chr 6:455,851...612,868
JBrowse link
G APRT adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:890,272...893,278
Ensembl chr 6:890,831...893,276
JBrowse link
G BANP BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:1,421,460...1,495,484
Ensembl chr 6:1,421,462...1,495,486
JBrowse link
G C6H16orf95 chromosome 6 C16orf95 homolog ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:1,996,457...2,013,709 JBrowse link
G CA5A carbonic anhydrase 5A ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:1,495,615...1,539,390
Ensembl chr 6:1,506,042...1,538,777
JBrowse link
G CBFA2T3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:779,164...854,449
Ensembl chr 6:779,366...853,822
JBrowse link
G CDH15 cadherin 15 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:636,350...652,260
Ensembl chr 6:636,377...652,165
JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:893,377...897,706
Ensembl chr 6:893,381...897,934
JBrowse link
G CPNE7 copine 7 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:393,756...410,781 JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:964,551...976,881
Ensembl chr 6:964,566...976,832
JBrowse link
G CYBA cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,162...1,021,420
JBrowse link
G FBXO31 F-box protein 31 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:1,949,254...1,995,459
Ensembl chr 6:1,949,276...1,995,462
JBrowse link
G GALNS galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:869,284...890,137
Ensembl chr 6:869,244...890,134
JBrowse link
G IL17C interleukin 17C ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:1,023,330...1,025,173
Ensembl chr 6:1,022,937...1,025,161
JBrowse link
G JPH3 junctophilin 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:1,677,132...1,767,010 JBrowse link
G KLHDC4 kelch domain containing 4 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:1,627,054...1,672,328
Ensembl chr 6:1,617,653...1,677,127
JBrowse link
G MAP1LC3B microtubule associated protein 1 light chain 3 beta ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:1,919,879...1,941,069
Ensembl chr 6:1,915,387...1,941,069
JBrowse link
G MVD mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:1,008,100...1,014,303
Ensembl chr 6:1,008,100...1,014,303
JBrowse link
G PABPN1L PABPN1 like, cytoplasmic ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:854,605...861,969
Ensembl chr 6:858,888...861,604
JBrowse link
G PIEZO1 piezo type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:914,480...967,113
Ensembl chr 6:914,709...967,111
JBrowse link
G RNF166 ring finger protein 166 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:976,957...982,997
Ensembl chr 6:976,980...982,995
JBrowse link
G RPL13 ribosomal protein L13 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:410,923...413,396 JBrowse link
G SLC7A5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285
JBrowse link
G SNAI3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:988,975...996,268
Ensembl chr 6:988,990...996,247
JBrowse link
G SPG7 SPG7 matrix AAA peptidase subunit, paraplegin ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:414,930...439,206
Ensembl chr 6:414,932...439,212
JBrowse link
G TRAPPC2L trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:865,498...869,253
Ensembl chr 6:863,805...869,226
JBrowse link
G ZC3H18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:1,030,416...1,081,541
Ensembl chr 6:1,030,418...1,081,538
JBrowse link
G ZCCHC14 zinc finger CCHC-type containing 14 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:1,849,974...1,917,601
Ensembl chr 6:1,850,051...1,918,704
JBrowse link
G ZFPM1 zinc finger protein, FOG family member 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:1,091,158...1,153,972
Ensembl chr 6:1,091,259...1,107,096
JBrowse link
G ZNF469 zinc finger protein 469 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 6:1,161,514...1,208,406
Ensembl chr 6:1,162,822...1,174,257
JBrowse link
1q24 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL2 ABL proto-oncogene 2, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:120,888,891...120,984,724
Ensembl chr 9:120,892,952...120,984,695
JBrowse link
G ACBD6 acyl-CoA binding domain containing 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:121,913,050...122,116,031
Ensembl chr 9:121,913,053...122,115,783
JBrowse link
G ANGPTL1 angiopoietin like 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:120,656,313...120,684,313
Ensembl chr 9:120,654,092...120,680,390
JBrowse link
G ASTN1 astrotactin 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:118,649,144...118,969,032
Ensembl chr 9:118,646,910...118,968,970
JBrowse link
G ATP1B1 ATPase Na+/K+ transporting subunit beta 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 4:81,912,543...81,937,015
Ensembl chr 4:81,911,561...81,991,840
JBrowse link
G AXDND1 axonemal dynein light chain domain containing 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:121,120,031...121,209,686
Ensembl chr 9:121,120,235...121,223,059
JBrowse link
G BLZF1 basic leucine zipper nuclear factor 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 4:81,597,312...81,639,788
Ensembl chr 4:81,571,300...81,639,577
JBrowse link
G BRINP2 BMP/retinoic acid inducible neural specific 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:118,967,670...119,095,345
Ensembl chr 9:118,975,719...119,095,336
JBrowse link
G C9H1orf105 chromosome 9 C1orf105 homolog ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 9:114,828,414...114,850,267
Ensembl chr 9:114,814,030...114,851,040
JBrowse link
G CACNA1E calcium voltage-gated channel subunit alpha1 E ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:122,827,386...123,318,372
Ensembl chr 9:123,006,195...123,315,319
JBrowse link
G CACYBP calcyclin binding protein ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 9:117,062,303...117,077,442
Ensembl chr 9:117,064,187...117,123,126
JBrowse link
G CCDC181 coiled-coil domain containing 181 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 4:81,561,007...81,593,922
Ensembl chr 4:81,561,103...81,593,922
JBrowse link
G CENPL centromere protein L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 9:116,090,868...116,109,822
Ensembl chr 9:116,090,870...116,109,483
JBrowse link
G CEP350 centrosomal protein 350 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:121,590,674...121,744,860
Ensembl chr 9:121,590,420...121,741,158
JBrowse link
G COP1 COP1 E3 ubiquitin ligase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:117,913,504...118,114,268
Ensembl chr 9:117,915,443...118,114,259
JBrowse link
G DARS2 aspartyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 9:116,109,970...116,140,635
Ensembl chr 9:116,109,986...116,140,627
JBrowse link
G DHX9 DExH-box helicase 9 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:124,141,929...124,183,838
Ensembl chr 9:124,141,967...124,185,349
JBrowse link
G DNM3 dynamin 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 9:114,262,782...114,805,252
Ensembl chr 9:114,262,791...114,797,674
JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,274...81,485,066
JBrowse link
G FAM163A family with sequence similarity 163 member A ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:121,378,101...121,460,641
Ensembl chr 9:121,380,415...121,461,054
JBrowse link
G FAM20B FAM20B glycosaminoglycan xylosylkinase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:120,809,706...120,854,967
Ensembl chr 9:120,809,964...120,854,961
JBrowse link
G FASLG Fas ligand ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464
JBrowse link
G FIRRM FIGNL1 interacting regulator of recombination and mitosis ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 4:81,174,911...81,216,094
Ensembl chr 4:81,175,541...81,216,096
JBrowse link
G FMO1 flavin containing dimethylaniline monoxygenase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 9:63,860,957...63,895,086
Ensembl chr 9:63,868,064...63,895,076
JBrowse link
G FMO2 flavin containing dimethylaniline monoxygenase 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 9:63,812,016...63,857,608
Ensembl chr 9:63,812,492...63,852,085
JBrowse link
G FMO3 flavin containing dimethylaniline monoxygenase 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 9:63,757,928...63,777,075
Ensembl chr 9:63,757,964...63,777,279
JBrowse link
G FMO4 flavin containing dimethylaniline monoxygenase 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 9:63,908,846...63,934,985
Ensembl chr 9:63,908,868...63,934,982
JBrowse link
G GLUL glutamate-ammonia ligase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:123,751,551...123,762,575
Ensembl chr 9:123,751,548...123,762,547
JBrowse link
G GORAB golgin, RAB6 interacting ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 4:80,568,535...80,590,709
Ensembl chr 4:80,568,859...80,590,679
JBrowse link
G GPR52 G protein-coupled receptor 52 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 9:116,639,223...116,648,001
Ensembl chr 9:116,643,037...116,647,996
JBrowse link
G IER5 immediate early response 5 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:122,633,781...122,635,950
Ensembl chr 9:122,633,781...122,635,948
JBrowse link
G KIAA0040 KIAA0040 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 9:117,253,805...117,288,348
Ensembl chr 9:117,253,831...117,287,741
JBrowse link
G KIAA1614 KIAA1614 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:122,484,049...122,523,072
Ensembl chr 9:122,484,004...122,523,063
JBrowse link
G KIFAP3 kinesin associated protein 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 4:80,922,032...81,105,135
Ensembl chr 4:80,921,682...81,108,360
JBrowse link
G KLHL20 kelch like family member 20 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 9:116,005,562...116,083,478
Ensembl chr 9:116,005,574...116,083,452
JBrowse link
G LAMC1 laminin subunit gamma 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:124,283,668...124,405,967
Ensembl chr 9:124,283,224...124,405,964
JBrowse link
G LAMC2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:124,427,545...124,499,672
Ensembl chr 9:124,435,807...124,495,351
JBrowse link
G LHX4 LIM homeobox 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:121,850,997...121,898,622
Ensembl chr 9:121,851,270...121,897,211
JBrowse link
G LOC100624136 ankyrin repeat domain-containing protein 45 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 9:115,868,345...115,987,710
Ensembl chr 9:115,948,210...115,987,643
JBrowse link
G METTL13 methyltransferase 13, eEF1A N-terminus and K55 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 9:114,202,494...114,218,371
Ensembl chr 9:114,202,484...114,218,368
JBrowse link
G METTL18 methyltransferase 18, RPL3 N3(tau)-histidine ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 4:81,216,107...81,218,595
Ensembl chr 4:81,216,430...81,220,449
JBrowse link
G MIR199A-1 microRNA mir-199a-1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 9:114,533,783...114,533,858
Ensembl chr 9:114,533,777...114,533,880
JBrowse link
G MIR214 microRNA mir-214 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 9:114,527,992...114,528,101
Ensembl chr 9:114,527,990...114,528,101
JBrowse link
G MR1 major histocompatibility complex, class I-related ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:122,592,510...122,611,462
Ensembl chr 9:122,592,532...122,609,022
JBrowse link
G MROH9 maestro heat like repeat family member 9 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 9:63,620,228...63,727,120
Ensembl chr 9:63,620,228...63,727,022
JBrowse link
G MRPS14 mitochondrial ribosomal protein S14 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 9:117,097,841...117,137,188
Ensembl chr 9:117,097,849...117,137,110
JBrowse link
G MYOC myocilin ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 9:114,087,370...114,098,765
Ensembl chr 9:114,087,378...114,098,745
JBrowse link
G NCF2 neutrophil cytosolic factor 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:124,776,516...124,813,358
Ensembl chr 9:124,776,534...124,812,923
JBrowse link
G NME7 NME/NM23 family member 7 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 4:81,639,907...81,912,276
Ensembl chr 4:81,639,909...81,911,743
JBrowse link
G NMNAT2 nicotinamide nucleotide adenylyltransferase 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:124,495,464...124,697,911
Ensembl chr 9:124,498,109...124,696,194
JBrowse link
G NPHS2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:121,217,734...121,236,214
Ensembl chr 9:121,218,369...121,236,430
JBrowse link
G NPL N-acetylneuraminate pyruvate lyase ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:124,093,579...124,132,862
Ensembl chr 9:124,093,604...124,132,860
JBrowse link
G NTMT2 N-terminal Xaa-Pro-Lys N-methyltransferase 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 4:80,854,850...80,932,412
Ensembl chr 4:80,857,344...80,877,566
JBrowse link
G PAPPA2 pappalysin 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:118,362,663...118,635,972
Ensembl chr 9:118,365,303...118,635,964
JBrowse link
G PIGC phosphatidylinositol glycan anchor biosynthesis class C ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 9:114,824,795...114,827,731
Ensembl chr 9:114,824,802...114,827,413
JBrowse link
G PRDX6 peroxiredoxin 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 9:115,857,629...115,868,898
Ensembl chr 9:115,857,644...115,868,892
JBrowse link
G PRRC2C proline rich coiled-coil 2C ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 9:113,973,285...114,067,555
Ensembl chr 9:113,973,325...114,067,553
JBrowse link
G PRRX1 paired related homeobox 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 4:80,427,682...80,502,689
Ensembl chr 4:80,427,687...80,501,646
JBrowse link
G QSOX1 quiescin sulfhydryl oxidase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:121,779,072...121,822,829
Ensembl chr 9:121,779,792...121,822,825
JBrowse link
G RABGAP1L RAB GTPase activating protein 1 like ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 9:116,402,395...117,060,057
Ensembl chr 9:116,463,779...117,060,053
JBrowse link
G RALGPS2 Ral GEF with PH domain and SH3 binding motif 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:120,562,294...120,725,275
Ensembl chr 9:120,420,942...120,724,218
JBrowse link
G RASAL2 RAS protein activator like 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:119,941,303...120,329,817
Ensembl chr 9:119,941,862...120,325,316
JBrowse link
G RC3H1 ring finger and CCCH-type domains 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 9:116,204,807...116,292,455
Ensembl chr 9:116,208,799...116,292,381
JBrowse link
G RGS16 regulator of G protein signaling 16 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:123,913,179...123,919,119
Ensembl chr 9:123,913,173...123,918,871
JBrowse link
G RGS8 regulator of G protein signaling 8 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:123,937,721...124,053,927
Ensembl chr 9:123,955,241...124,047,648
JBrowse link
G RGSL1 regulator of G protein signaling like 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:123,763,417...123,879,100
Ensembl chr 9:123,814,171...123,879,496
JBrowse link
G RNASEL ribonuclease L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:123,895,045...123,910,386
Ensembl chr 9:123,893,294...123,910,398
JBrowse link
G SCYL3 SCY1 like pseudokinase 3 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 4:81,134,035...81,175,537
Ensembl chr 4:81,134,352...81,175,536
JBrowse link
G SEC16B SEC16 homolog B, endoplasmic reticulum export factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:119,778,660...119,842,962
Ensembl chr 9:119,778,664...119,842,922
JBrowse link
G SELE selectin E ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 4:81,289,061...81,299,657 JBrowse link
G SELL selectin L ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 4:81,306,363...81,325,296
Ensembl chr 4:81,306,353...81,326,444
JBrowse link
G SELP selectin P ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 4:81,376,804...81,401,240
Ensembl chr 4:81,365,740...81,399,955
JBrowse link
G SERPINC1 serpin family C member 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 9:116,181,988...116,193,100
Ensembl chr 9:116,181,670...116,193,201
JBrowse link
G SHCBP1L SHC binding and spindle associated 1 like ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:124,188,457...124,221,850
Ensembl chr 9:124,187,787...124,221,719
JBrowse link
G SLC19A2 solute carrier family 19 member 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 4:81,510,221...81,535,099
Ensembl chr 4:81,510,098...81,536,464
JBrowse link
G SMG7 SMG7 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:124,696,432...124,775,739
Ensembl chr 9:124,697,093...124,775,964
JBrowse link
G SOAT1 sterol O-acyltransferase 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:121,045,211...121,112,393
Ensembl chr 9:121,045,234...121,113,692
JBrowse link
G STX6 syntaxin 6 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:122,533,737...122,580,631
Ensembl chr 9:122,529,727...122,580,608
JBrowse link
G SUCO SUN domain containing ossification factor ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 9:114,916,957...115,007,979
Ensembl chr 9:114,916,855...115,007,972
JBrowse link
G TDRD5 tudor domain containing 5 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:121,245,080...121,337,339
Ensembl chr 9:121,211,960...121,333,220
JBrowse link
G TEDDM1 transmembrane epididymal protein 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:123,765,986...123,773,210
Ensembl chr 9:123,770,110...123,770,931
JBrowse link
G TEX35 testis expressed 35 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:120,351,958...120,377,900
Ensembl chr 9:120,367,303...120,377,810
JBrowse link
G TNFSF18 TNF superfamily member 18 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 9:115,447,438...115,460,649
Ensembl chr 9:115,448,973...115,460,950
JBrowse link
G TNFSF4 TNF superfamily member 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 9:115,535,185...115,857,457
Ensembl chr 9:115,550,569...115,659,263
JBrowse link
G TNN tenascin N ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 9:117,174,743...117,244,041
Ensembl chr 9:117,137,250...117,243,815
JBrowse link
G TNR tenascin R ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 9:117,365,930...117,790,332
Ensembl chr 9:117,373,545...117,771,224
JBrowse link
G TOR1AIP1 torsin 1A interacting protein 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:121,515,691...121,566,799
Ensembl chr 9:121,515,570...121,566,796
JBrowse link
G TOR1AIP2 torsin 1A interacting protein 2 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:121,476,501...121,516,611
Ensembl chr 9:121,476,503...121,518,506
JBrowse link
G TOR3A torsin family 3 member A ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:120,859,834...120,885,925
Ensembl chr 9:120,860,104...120,885,919
JBrowse link
G VAMP4 vesicle associated membrane protein 4 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:25741868 NCBI chr 9:114,138,350...114,174,996
Ensembl chr 9:114,138,330...114,174,979
JBrowse link
G XPR1 xenotropic and polytropic retrovirus receptor 1 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:122,237,954...122,461,669
Ensembl chr 9:122,237,957...122,458,171
JBrowse link
G ZBTB37 zinc finger and BTB domain containing 37 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 NCBI chr 9:116,149,234...116,179,437
Ensembl chr 9:116,149,293...116,181,689
JBrowse link
G ZNF648 zinc finger protein 648 ISO ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome ClinVar PMID:21548129 PMID:21681106 PMID:26333682 NCBI chr 9:123,505,789...123,706,692
Ensembl chr 9:123,507,751...123,509,483
JBrowse link
22q11 Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12223415 NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248
JBrowse link
G SIX1 SIX homeobox 1 ISO RGD PMID:21364285 RGD:11561941 NCBI chr 1:189,620,430...189,624,652
Ensembl chr 1:189,619,855...189,624,651
JBrowse link
G TBX1 T-box transcription factor 1 ISO RGD PMID:16452092 RGD:155663362 NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
JBrowse link
3p deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD28 ankyrin repeat domain 28 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:2,922,855...3,135,743
Ensembl chr13:2,922,853...3,135,709
JBrowse link
G BTD biotinidase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:2,840,425...2,902,619
Ensembl chr13:2,840,456...2,959,846
JBrowse link
G C13H3orf20 chromosome 13 C3orf20 homolog ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:69,777,152...69,888,828
Ensembl chr13:69,788,148...69,895,217
JBrowse link
G CAPN7 calpain 7 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:2,452,385...2,503,575
Ensembl chr13:2,452,215...2,504,581
JBrowse link
G CCDC174 coiled-coil domain containing 174 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:69,898,803...69,918,896
Ensembl chr13:69,895,325...69,915,655
JBrowse link
G CHCHD4 coiled-coil-helix-coiled-coil-helix domain containing 4 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:70,417,326...70,428,923
Ensembl chr13:70,417,326...70,428,922
JBrowse link
G COLQ collagen like tail subunit of asymmetric acetylcholinesterase ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:2,677,738...2,755,635
Ensembl chr13:2,677,740...2,755,307
JBrowse link
G DAZL deleted in azoospermia like ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:3,762,896...3,783,848
Ensembl chr13:3,764,784...3,782,818
JBrowse link
G DPH3 diphthamide biosynthesis 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:3,391,833...3,395,856
Ensembl chr13:3,391,823...3,395,856
JBrowse link
G EAF1 ELL associated factor 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:2,654,829...2,671,140
Ensembl chr13:2,654,630...2,671,132
JBrowse link
G EFHB EF-hand domain family member B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:6,826,023...6,898,763
Ensembl chr13:6,824,503...6,898,764
JBrowse link
G FBLN2 fibulin 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:70,757,255...70,830,430
Ensembl chr13:70,757,265...70,830,388
JBrowse link
G FGD5 FYVE, RhoGEF and PH domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:69,594,225...69,724,051
Ensembl chr13:69,594,223...69,724,056
JBrowse link
G GALNT15 polypeptide N-acetylgalactosaminyltransferase 15 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:3,329,824...3,371,094
Ensembl chr13:3,330,023...3,371,091
JBrowse link
G GRIP2 glutamate receptor interacting protein 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:69,949,608...70,088,719
Ensembl chr13:69,988,459...70,088,718
JBrowse link
G HACL1 2-hydroxyacyl-CoA lyase 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:2,786,007...2,840,882
Ensembl chr13:2,766,514...2,840,902
JBrowse link
G HDAC11 histone deacetylase 11 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:70,860,650...70,879,863
Ensembl chr13:70,860,658...70,879,856
JBrowse link
G KAT2B lysine acetyltransferase 2B ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:6,985,151...7,099,771
Ensembl chr13:6,985,235...7,100,345
JBrowse link
G KCNH8 potassium voltage-gated channel subfamily H member 8 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:6,104,382...6,533,505
Ensembl chr13:6,104,537...6,532,592
JBrowse link
G LSM3 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:70,339,685...70,349,802
Ensembl chr13:70,336,907...70,348,651
JBrowse link
G METTL6 methyltransferase 6, tRNA N3-cytidine ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:2,638,972...2,654,845
Ensembl chr13:2,638,389...2,654,836
JBrowse link
G MRPS25 mitochondrial ribosomal protein S25 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:69,441,100...69,465,912
Ensembl chr13:69,441,116...69,467,895
JBrowse link
G NR2C2 nuclear receptor subfamily 2 group C member 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:69,464,798...69,577,638
Ensembl chr13:69,464,795...69,576,946
JBrowse link
G NUP210 nucleoporin 210 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:70,917,464...71,007,273
Ensembl chr13:70,917,477...71,007,271
JBrowse link
G OXNAD1 oxidoreductase NAD binding domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:3,395,886...3,437,074
Ensembl chr13:3,396,097...3,437,070
JBrowse link
G PLCL2 phospholipase C like 2 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:3,992,230...4,201,574
Ensembl chr13:3,992,835...4,201,569
JBrowse link
G PP2D1 protein phosphatase 2C like domain containing 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:6,939,990...6,958,513
Ensembl chr13:6,939,517...6,961,810
JBrowse link
G RAB5A RAB5A, member RAS oncogene family ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:6,905,302...6,940,165
Ensembl chr13:6,905,390...6,941,423
JBrowse link
G RBSN rabenosyn, RAB effector ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:69,403,995...69,434,829
Ensembl chr13:69,404,021...69,434,829
JBrowse link
G RFTN1 raftlin, lipid raft linker 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:3,454,448...3,675,072
Ensembl chr13:3,454,454...3,674,998
JBrowse link
G SATB1 SATB homeobox 1 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:5,315,985...5,410,686
Ensembl chr13:5,314,148...5,417,610
JBrowse link
G SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr13:65,759,973...65,851,747
Ensembl chr13:65,759,987...65,850,506
JBrowse link
G SH3BP5 SH3 domain binding protein 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:2,504,282...2,585,601
Ensembl chr13:2,506,156...2,585,526
JBrowse link
G SLC6A6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:70,094,073...70,173,581
Ensembl chr13:70,094,079...70,173,582
JBrowse link
G TBC1D5 TBC1 domain family member 5 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:4,191,544...4,738,448
Ensembl chr13:4,201,255...4,633,312
JBrowse link
G THUMPD3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:21681106 NCBI chr13:65,720,556...65,747,989
Ensembl chr13:65,721,475...65,747,076
JBrowse link
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:70,397,069...70,417,213
Ensembl chr13:70,393,227...70,417,168
JBrowse link
G WNT7A Wnt family member 7A ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:70,538,802...70,602,464
Ensembl chr13:70,538,894...70,602,454
JBrowse link
G XPC XPC complex subunit, DNA damage recognition and repair factor ISO ClinVar Annotator: match by term: 3p- syndrome ClinVar PMID:31690835 NCBI chr13:70,348,841...70,397,194
Ensembl chr13:70,348,864...70,397,772
JBrowse link
46,XY sex reversal 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX9 SRY-box transcription factor 9 ISO ClinVar Annotator: match by term: 46,XY sex reversal 10 ClinVar PMID:567843 PMID:6620326 PMID:22051515 PMID:25604083 NCBI chr12:8,642,154...8,647,315
Ensembl chr12:8,642,158...8,647,315
JBrowse link
46,XY sex reversal 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMRT1 doublesex and mab-3 related transcription factor 1 ISO ClinVar Annotator: match by term: 46,XY sex reversal 4 ClinVar PMID:25741868 NCBI chr 1:220,841,485...220,953,442
Ensembl chr 1:220,841,488...220,953,442
JBrowse link
autosomal dominant intellectual developmental disorder 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZBTB18 zinc finger and BTB domain containing 18 ISO ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 22 | ClinVar Annotator: match by term: ZBTB18-Related Disorder OMIM
ClinVar
PMID:24193349 PMID:25741868 PMID:26740508 PMID:27598823 PMID:28135719 More... NCBI chr10:16,913,022...16,921,722
Ensembl chr10:16,913,025...16,920,586
JBrowse link
Chromosome 11, Partial Trisomy 11q term browser
Symbol Object Name Qualifiers 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 chr 9:35,903,902...35,948,573
Ensembl chr 9:35,839,917...35,948,575
JBrowse link
G ABCG4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:46,364,546...46,380,545
Ensembl chr 9:46,364,936...46,380,544
JBrowse link
G ACAD8 acyl-CoA dehydrogenase family member 8 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:60,807,405...60,828,379
Ensembl chr 9:60,807,486...60,828,389
JBrowse link
G ACAT1 acetyl-CoA acetyltransferase 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
JBrowse link
G ACRV1 acrosomal vesicle protein 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:52,803,378...52,809,975
Ensembl chr 9:52,803,381...52,809,975
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 chr 9:57,127,527...57,152,550
Ensembl chr 9:57,127,442...57,152,547
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 chr 9:57,090,313...57,113,077
Ensembl chr 9:57,090,617...57,110,414
JBrowse link
G ALG9 ALG9 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:39,519,217...39,620,098
Ensembl chr 9:39,527,883...39,619,892
JBrowse link
G ALKBH8 alkB homolog 8, tRNA methyltransferase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:36,077,004...36,119,936
Ensembl chr 9:36,077,192...36,119,920
JBrowse link
G APLP2 amyloid beta precursor like protein 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:56,798,781...56,871,849
Ensembl chr 9:56,798,810...56,872,642
JBrowse link
G APOA1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713
JBrowse link
G APOA4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:44,201,587...44,204,072
Ensembl chr 9:44,201,508...44,204,206
JBrowse link
G APOA5 apolipoprotein A5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:44,177,834...44,180,880
Ensembl chr 9:44,178,606...44,180,885
JBrowse link
G APOC3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:44,211,171...44,213,538
Ensembl chr 9:44,211,194...44,213,533
JBrowse link
G ARCN1 archain 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:45,863,772...45,897,525
Ensembl chr 9:45,863,559...45,897,613
JBrowse link
G ARHGAP20 Rho GTPase activating protein 20 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:38,471,049...38,582,221
Ensembl chr 9:38,474,865...38,582,242
JBrowse link
G ARHGAP32 Rho GTPase activating protein 32 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:55,903,365...56,177,639
Ensembl chr 9:55,906,954...56,177,551
JBrowse link
G ARHGEF12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:47,474,566...47,621,034
Ensembl chr 9:47,475,805...47,618,361
JBrowse link
G ATM ATM serine/threonine kinase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552
JBrowse link
G ATP5MG ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:45,706,449...45,716,541
Ensembl chr 9:45,706,534...45,717,036
JBrowse link
G B3GAT1 beta-1,3-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:60,995,280...61,020,300
Ensembl chr 9:60,995,283...61,010,471
JBrowse link
G BACE1 beta-secretase 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:44,640,389...44,665,863
Ensembl chr 9:44,640,394...44,665,835
JBrowse link
G BARX2 BARX homeobox 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:56,261,394...56,340,992
Ensembl chr 9:56,261,658...56,340,983
JBrowse link
G BCL9L BCL9 like ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:46,146,519...46,175,052
Ensembl chr 9:46,146,525...46,174,589
JBrowse link
G BCO2 beta-carotene oxygenase 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:39,864,136...39,916,491
Ensembl chr 9:39,872,645...39,917,263
JBrowse link
G BSX brain specific homeobox ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:49,873,031...49,910,581
Ensembl chr 9:49,905,428...49,909,226
JBrowse link
G BTG4 BTG anti-proliferation factor 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:39,253,116...39,281,327
Ensembl chr 9:39,237,461...39,301,588
JBrowse link
G BUD13 BUD13 homolog ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:44,120,830...44,165,410
Ensembl chr 9:44,078,195...44,165,249
JBrowse link
G C1QTNF5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:46,548,175...46,550,146
Ensembl chr 9:46,548,131...46,550,172
JBrowse link
G C2CD2L C2CD2 like ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:46,321,761...46,331,078
Ensembl chr 9:46,321,817...46,331,078
JBrowse link
G C9H11orf52 chromosome 9 C11orf52 homolog ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:39,646,890...39,655,229
Ensembl chr 9:39,647,797...39,655,223
JBrowse link
G C9H11orf65 chromosome 9 C11orf65 homolog ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:36,768,819...36,855,318
Ensembl chr 9:36,776,897...36,849,710
JBrowse link
G C9H11orf71 chromosome 9 C11orf71 homolog ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:41,946,824...41,947,477
Ensembl chr 9:41,945,977...41,947,456
JBrowse link
G C9H11orf87 chromosome 9 C11orf87 homolog ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:37,297,438...37,939,922
Ensembl chr 9:37,613,308...37,620,660
JBrowse link
G CADM1 cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:42,644,487...42,984,934
Ensembl chr 9:42,644,429...42,985,017
JBrowse link
G CASP1 caspase 1, apoptosis-related cysteine peptidase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:35,188,066...35,199,364
Ensembl chr 9:35,186,420...35,200,328
JBrowse link
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834
JBrowse link
G CCDC15 coiled-coil domain containing 15 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:52,146,298...52,217,679
Ensembl chr 9:52,147,082...52,217,674
JBrowse link
G CCDC153 coiled-coil domain containing 153 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:46,406,085...46,412,449
Ensembl chr 9:46,397,081...46,411,758
JBrowse link
G CD3D CD3 delta subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:45,640,475...45,644,153
Ensembl chr 9:45,637,129...45,644,221
JBrowse link
G CD3E CD3 epsilon subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:45,619,730...45,633,972
Ensembl chr 9:45,619,482...45,633,968
JBrowse link
G CD3G CD3 gamma subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:45,645,243...45,656,779
Ensembl chr 9:45,645,364...45,704,745
JBrowse link
G CDON cell adhesion associated, oncogene regulated ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:53,079,543...53,178,881
Ensembl chr 9:53,079,550...53,178,881
JBrowse link
G CENATAC centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:46,230,365...46,239,433
Ensembl chr 9:46,230,395...46,239,433
JBrowse link
G CEP164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:44,670,857...44,752,477
Ensembl chr 9:44,670,874...44,752,469
JBrowse link
G CFAP68 cilia and flagella associated protein 68 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:39,629,921...39,641,769
Ensembl chr 9:39,612,409...39,660,648
JBrowse link
G CHEK1 checkpoint kinase 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:52,759,224...52,790,878
Ensembl chr 9:52,753,528...52,790,700
JBrowse link
G CLDN25 claudin 25 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:41,407,244...41,408,058
Ensembl chr 9:41,407,272...41,408,995
JBrowse link
G CLMP CXADR like membrane protein ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:49,989,967...50,094,223
Ensembl chr 9:49,989,767...50,093,417
JBrowse link
G CRTAM cytotoxic and regulatory T cell molecule ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:49,782,166...49,811,314
Ensembl chr 9:49,783,909...49,811,312
JBrowse link
G CRYAB crystallin alpha B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:39,638,505...39,643,530
Ensembl chr 9:39,638,506...39,643,530
JBrowse link
G CUL5 cullin 5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:36,419,806...36,507,681
Ensembl chr 9:36,419,881...36,507,667
JBrowse link
G CWF19L2 CWF19 like cell cycle control factor 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:35,967,198...36,059,780
Ensembl chr 9:35,967,204...36,059,749
JBrowse link
G CXCR5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:46,134,243...46,146,638
Ensembl chr 9:46,143,117...46,146,636
JBrowse link
G DCPS decapping enzyme, scavenger ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:53,400,750...53,437,161
Ensembl chr 9:53,400,755...53,437,548
JBrowse link
G DDX10 DEAD-box helicase 10 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:37,006,571...37,265,973 JBrowse link
G DDX25 DEAD-box helicase 25 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:53,029,450...53,044,088
Ensembl chr 9:53,029,790...53,044,383
JBrowse link
G DDX6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:46,025,616...46,063,836
Ensembl chr 9:46,025,625...46,063,818
JBrowse link
G DIXDC1 DIX domain containing 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:39,666,454...39,734,909 JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:39,738,639...39,763,813
Ensembl chr 9:39,738,564...39,796,806
JBrowse link
G DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:46,308,824...46,316,905
Ensembl chr 9:46,310,872...46,316,858
JBrowse link
G DRD2 dopamine receptor D2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:41,068,618...41,135,262
Ensembl chr 9:41,068,779...41,133,599
JBrowse link
G DSCAML1 DS cell adhesion molecule like 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:44,785,142...45,153,256
Ensembl chr 9:44,785,701...45,147,140
JBrowse link
G EI24 EI24 autophagy associated transmembrane protein ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:52,704,560...52,724,966
Ensembl chr 9:52,704,570...52,720,938
JBrowse link
G ELMOD1 ELMO domain containing 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:36,141,330...36,208,125
Ensembl chr 9:36,142,316...36,208,696
JBrowse link
G ESAM endothelial cell adhesion molecule ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:51,983,019...51,992,415
Ensembl chr 9:51,983,023...51,992,393
JBrowse link
G ETS1 ETS proto-oncogene 1, transcription factor ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:55,377,264...55,512,180
Ensembl chr 9:55,377,266...55,512,115
JBrowse link
G FAM118B family with sequence similarity 118 member B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:53,309,198...53,358,005
Ensembl chr 9:53,309,260...53,358,384
JBrowse link
G FDX1 ferredoxin 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:38,376,147...38,399,026
Ensembl chr 9:38,375,984...38,404,832
JBrowse link
G FDXACB1 ferredoxin-fold anticodon binding domain containing 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:39,623,871...39,629,987
Ensembl chr 9:39,622,902...39,629,836
JBrowse link
G FEZ1 fasciculation and elongation protein zeta 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:52,621,175...52,672,660
Ensembl chr 9:52,621,183...52,672,660
JBrowse link
G FLI1 Fli-1 proto-oncogene, ETS transcription factor ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:55,612,905...55,749,784
Ensembl chr 9:55,612,901...55,749,778
JBrowse link
G FOXR1 forkhead box R1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:46,208,750...46,220,076
Ensembl chr 9:46,208,808...46,220,078
JBrowse link
G FOXRED1 FAD dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:53,365,260...53,372,955
Ensembl chr 9:53,365,250...53,372,952
JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:45,165,314...45,172,440 JBrowse link
G FXYD6 FXYD domain containing ion transport regulator 6 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:45,182,396...45,218,249 JBrowse link
G GLB1L2 galactosidase beta 1 like 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:60,954,513...60,993,584
Ensembl chr 9:60,954,524...60,993,588
JBrowse link
G GLB1L3 galactosidase beta 1 like 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:60,917,137...60,940,461
Ensembl chr 9:60,918,345...60,940,093
JBrowse link
G GRAMD1B GRAM domain containing 1B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:50,259,020...50,507,328
Ensembl chr 9:50,335,062...50,505,129
JBrowse link
G GRIA4 glutamate ionotropic receptor AMPA type subunit 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:35,442,060...35,803,989
Ensembl chr 9:35,442,091...35,805,357
JBrowse link
G GRIK4 glutamate ionotropic receptor kainate type subunit 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:47,639,987...48,095,803
Ensembl chr 9:47,639,988...48,097,870
JBrowse link
G GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:62,101,581...62,510,803
Ensembl chr 9:62,101,613...62,499,581
JBrowse link
G H2AX H2A.X variant histone ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:46,308,824...46,310,494
Ensembl chr 9:46,309,653...46,310,084
JBrowse link
G HEPACAM hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:52,115,494...52,131,801
Ensembl chr 9:52,115,504...52,131,522
JBrowse link
G HEPN1 hepatocellular carcinoma, down-regulated 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:52,115,257...52,116,284 JBrowse link
G HINFP histone H4 transcription factor ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:46,336,130...46,354,623
Ensembl chr 9:46,336,155...46,347,353
JBrowse link
G HMBS hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:46,300,039...46,308,681
Ensembl chr 9:46,300,050...46,308,868
JBrowse link
G HOATZ HOATZ cilia and flagella associated protein ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:39,278,888...39,304,816
Ensembl chr 9:39,276,995...39,304,804
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 chr 9:49,982,278...49,986,760
Ensembl chr 9:49,982,284...49,990,508
JBrowse link
G HTR3A 5-hydroxytryptamine receptor 3A ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:41,575,085...41,589,083
Ensembl chr 9:41,576,796...41,589,538
JBrowse link
G HTR3B 5-hydroxytryptamine receptor 3B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:41,512,467...41,556,912
Ensembl chr 9:41,512,374...41,556,738
JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:53,008,944...53,027,307
Ensembl chr 9:53,013,348...53,028,551
JBrowse link
G HYOU1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:46,264,929...46,277,056
Ensembl chr 9:46,264,933...46,276,995
JBrowse link
G IFT46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:45,844,636...45,861,918
Ensembl chr 9:45,844,619...45,861,879
JBrowse link
G IGSF9B immunoglobulin superfamily member 9B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:60,467,321...60,521,463
Ensembl chr 9:60,478,029...60,521,465
JBrowse link
G IL10RA interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:45,310,527...45,324,557
Ensembl chr 9:45,310,534...45,325,168
JBrowse link
G IL18 interleukin 18 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
JBrowse link
G JAM3 junctional adhesion molecule 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:60,629,245...60,738,979
Ensembl chr 9:60,613,400...60,738,924
JBrowse link
G JAML junction adhesion molecule like ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:45,506,496...45,537,304
Ensembl chr 9:45,505,907...45,534,863
JBrowse link
G JHY junctional cadherin complex regulator ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:49,826,428...49,887,758
Ensembl chr 9:49,826,501...49,888,860
JBrowse link
G KBTBD3 kelch repeat and BTB domain containing 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:35,870,911...35,903,870
Ensembl chr 9:35,874,041...35,903,729
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 chr 9:55,779,020...55,812,761
Ensembl chr 9:55,780,257...55,781,375
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 chr 9:55,836,777...55,861,288
Ensembl chr 9:55,836,701...55,864,941
JBrowse link
G KIRREL3 kirre like nephrin family adhesion molecule 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:53,493,735...54,066,490
Ensembl chr 9:53,491,991...53,664,072
JBrowse link
G KMT2A lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:45,743,566...45,828,559
Ensembl chr 9:45,743,397...45,824,884
JBrowse link
G LAYN layilin ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:39,306,276...39,326,825
Ensembl chr 9:39,306,300...39,327,072
JBrowse link
G LOC100512247 olfactory receptor 10S1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:50,909,148...50,910,125
Ensembl chr 9:50,909,148...50,910,113
JBrowse link
G LOC100512977 KDEL motif-containing protein 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:36,856,092...36,970,940
Ensembl chr 9:36,852,560...36,879,483
Ensembl chr 9:36,852,560...36,879,483
JBrowse link
G LOC100513369 olfactory receptor 6M1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:50,633,118...50,635,489
Ensembl chr 9:50,634,384...50,635,262
JBrowse link
G LOC100516632 olfactory receptor 8D2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:51,291,216...51,292,145
Ensembl chr 9:51,291,216...51,292,142
JBrowse link
G LOC100516819 olfactory receptor 8D1-like ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:51,282,954...51,283,924
Ensembl chr 9:51,282,954...51,283,880
JBrowse link
G LOC100516990 olfactory receptor 8G1-like ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:51,220,694...51,221,653
Ensembl chr 9:51,220,718...51,221,653
JBrowse link
G LOC100518623 olfactory receptor 10G9-like ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:50,952,183...50,953,134 JBrowse link
G LOC100518799 olfactory receptor 10G7 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:50,965,660...50,966,605 JBrowse link
G LOC100519677 olfactory receptor 8B3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:51,585,080...51,586,048 JBrowse link
G LOC100519859 olfactory receptor 8B3-like ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:51,556,718...51,592,996 JBrowse link
G LOC100520926 olfactory receptor 145 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:51,642,422...51,643,354
Ensembl chr 9:51,642,422...51,643,354
JBrowse link
G LOC100522887 caspase-13 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:35,167,567...35,185,791 JBrowse link
G LOC100523744 olfactory receptor 8B4-like ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:51,624,333...51,626,022
Ensembl chr 9:51,624,333...51,625,280
JBrowse link
G LOC100523913 olfactory receptor 8B12-like ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:51,679,988...51,680,995 JBrowse link
G LOC100524268 olfactory receptor 151-like ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:51,778,403...51,779,381 JBrowse link
G LOC100524947 olfactory receptor 8D4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:50,713,124...50,714,241
Ensembl chr 9:50,713,124...50,714,062
JBrowse link
G LOC100525119 olfactory receptor 4D5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:50,758,169...50,759,113
Ensembl chr 9:50,758,169...50,759,113
JBrowse link
G LOC100525298 olfactory receptor 6T1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:50,765,646...50,766,608
Ensembl chr 9:50,765,646...50,766,608
JBrowse link
G LOC106504901 olfactory receptor 6X1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:50,612,751...50,614,137
Ensembl chr 9:50,613,020...50,613,958
JBrowse link
G LOC110259877 NXPE family member 3-like ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 3:8,114,146...8,120,050 JBrowse link
G LOC641352 caspase-15 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr13:24,046,127...24,068,431 JBrowse link
G MCAM melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:46,506,375...46,522,091
Ensembl chr 9:46,512,784...46,522,083
JBrowse link
G MFRP membrane frizzled-related protein ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:46,550,383...46,556,305
Ensembl chr 9:46,550,315...46,556,077
JBrowse link
G MIR100 microRNA mir-100 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:49,157,909...49,157,988
Ensembl chr 9:49,157,909...49,157,988
JBrowse link
G MIR125B-1 microRNA mir-125b-1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:49,109,435...49,109,514
Ensembl chr 9:49,109,435...49,109,514
JBrowse link
G MIR34C-1 microRNA mir-34c-1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:39,280,278...39,280,357
Ensembl chr 9:39,280,278...39,280,357
JBrowse link
G MIRLET7A-1 microRNA let-7a-1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:49,152,586...49,152,665
Ensembl chr 9:49,152,586...49,152,665
JBrowse link
G MPZL2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:45,566,365...45,578,168
Ensembl chr 9:45,565,513...45,578,185
JBrowse link
G MPZL3 myelin protein zero like 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:45,536,024...45,564,210
Ensembl chr 9:45,536,028...45,564,194
JBrowse link
G MSANTD2 Myb/SANT DNA binding domain containing 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:51,997,144...52,029,532
Ensembl chr 9:51,997,151...52,028,776
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 chr 9:35,828,697...35,839,579
Ensembl chr 9:35,830,837...35,862,114
JBrowse link
G NCAM1 neural cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:40,628,602...40,960,605
Ensembl chr 9:40,628,631...40,960,591
JBrowse link
G NCAPD3 non-SMC condensin II complex subunit D3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:60,712,416...60,785,907
Ensembl chr 9:60,712,421...60,785,901
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:46,823,552...46,891,564
Ensembl chr 9:46,789,726...46,891,304
JBrowse link
G NFRKB nuclear factor related to kappaB binding protein ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:56,616,865...56,656,068
Ensembl chr 9:56,614,227...56,656,056
JBrowse link
G NHERF4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:46,401,377...46,409,804
Ensembl chr 9:46,401,713...46,406,219
JBrowse link
G NKAPD1 NKAP domain containing 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:39,775,579...39,787,962
Ensembl chr 9:39,775,676...39,787,969
JBrowse link
G NLRX1 NLR family member X1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:46,384,373...46,400,752
Ensembl chr 9:46,384,948...46,400,983
JBrowse link
G NNMT nicotinamide N-methyltransferase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:41,871,072...41,882,415
Ensembl chr 9:41,870,980...41,882,756
JBrowse link
G NPAT nuclear protein, coactivator of histone transcription ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:36,554,800...36,620,515
Ensembl chr 9:36,554,671...36,620,446
JBrowse link
G NRGN neurogranin ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:51,967,313...51,977,197
Ensembl chr 9:51,969,823...51,977,228
JBrowse link
G NTM neurotrimin ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:57,965,751...58,967,534
Ensembl chr 9:58,743,504...58,968,355
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 chr 9:42,174,015...42,211,529 JBrowse link
G OAF out at first homolog ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:47,344,916...47,363,768
Ensembl chr 9:47,345,165...47,362,998
JBrowse link
G OPCML opioid binding protein/cell adhesion molecule like ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:59,037,711...60,141,162
Ensembl chr 9:59,037,714...60,140,839
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 chr 9:44,513,114...44,534,312
Ensembl chr 9:44,513,461...44,536,432
JBrowse link
G PANX3 pannexin 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:51,854,148...51,860,330
Ensembl chr 9:51,853,949...51,861,331
JBrowse link
G PATE1 prostate and testis expressed 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:52,913,965...52,916,716
Ensembl chr 9:52,914,551...52,916,806
JBrowse link
G PATE2 prostate and testis expressed 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:52,929,553...52,933,348
Ensembl chr 9:52,930,887...52,933,470
JBrowse link
G PATE3 prostate and testis expressed 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:52,956,357...52,959,538
Ensembl chr 9:52,956,331...52,958,342
JBrowse link
G PCSK7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:44,567,573...44,596,549
Ensembl chr 9:44,567,577...44,596,484
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 chr 9:45,902,099...45,949,415
Ensembl chr 9:45,902,155...45,949,415
JBrowse link
G PIH1D2 PIH1 domain containing 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:39,767,708...39,775,477
Ensembl chr 9:39,765,305...39,775,401
JBrowse link
G PKNOX2 PBX/knotted 1 homeobox 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:52,303,022...52,608,505
Ensembl chr 9:52,349,714...52,610,680
JBrowse link
G PLET1 placenta expressed transcript 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:39,936,355...39,949,709
Ensembl chr 9:39,936,372...39,949,683
JBrowse link
G POU2AF1 POU class 2 homeobox associating factor 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:39,121,422...39,144,636
Ensembl chr 9:39,119,052...39,144,606
JBrowse link
G POU2AF2 POU class 2 homeobox associating factor 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:39,024,067...39,065,379
Ensembl chr 9:39,024,631...39,062,684
JBrowse link
G POU2AF3 POU class 2 homeobox associating factor 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:39,071,994...39,081,493
Ensembl chr 9:39,071,706...39,081,486
JBrowse link
G POU2F3 POU class 2 homeobox 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:47,376,852...47,458,265
Ensembl chr 9:47,376,750...47,460,165
JBrowse link
G PPP2R1B protein phosphatase 2 scaffold subunit Abeta ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:39,479,040...39,518,773
Ensembl chr 9:39,480,331...39,517,629
JBrowse link
G PRDM10 PR/SET domain 10 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:56,657,270...56,749,487
Ensembl chr 9:56,657,270...56,749,482
JBrowse link
G PTS 6-pyruvoyltetrahydropterin synthase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:39,920,157...39,927,804
Ensembl chr 9:39,920,273...39,928,634
JBrowse link
G PUS3 pseudouridine synthase 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:53,018,878...53,028,605
Ensembl chr 9:53,018,883...53,028,560
JBrowse link
G RAB39A RAB39A, member RAS oncogene family ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:36,341,339...36,403,690
Ensembl chr 9:36,341,339...36,403,654
JBrowse link
G RBM7 RNA binding motif protein 7 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:41,947,081...41,955,683
Ensembl chr 9:41,947,589...41,956,210
JBrowse link
G RDX radixin ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:38,243,608...38,299,561
Ensembl chr 9:38,220,447...38,322,097
JBrowse link
G REXO2 RNA exonuclease 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:41,977,969...41,988,699
Ensembl chr 9:41,977,971...41,989,257
JBrowse link
G RNF214 ring finger protein 214 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:44,596,980...44,640,374
Ensembl chr 9:44,597,007...44,642,109
JBrowse link
G RNF26 ring finger protein 26 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:46,543,732...46,546,570
Ensembl chr 9:46,543,735...46,546,569
JBrowse link
G ROBO3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:52,065,043...52,081,764
Ensembl chr 9:52,065,499...52,081,625
JBrowse link
G ROBO4 roundabout guidance receptor 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:52,083,757...52,097,784
Ensembl chr 9:52,083,760...52,097,736
JBrowse link
G RPS25 ribosomal protein S25 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:46,237,911...46,242,174
Ensembl chr 9:46,235,737...46,242,432
JBrowse link
G RPUSD4 RNA pseudouridine synthase D4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:53,295,854...53,309,192
Ensembl chr 9:53,296,538...53,309,180
JBrowse link
G SC5D sterol-C5-desaturase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:48,357,115...48,372,391
Ensembl chr 9:48,357,165...48,372,386
JBrowse link
G SCN2B sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:45,484,994...45,502,578
Ensembl chr 9:45,484,998...45,498,465
JBrowse link
G SCN3B sodium voltage-gated channel beta subunit 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:50,508,194...50,532,432
Ensembl chr 9:50,508,880...50,583,712
JBrowse link
G SCN4B sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:45,451,473...45,475,606 JBrowse link
G SDHD succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:39,790,654...39,803,602
Ensembl chr 9:39,790,595...39,803,950
JBrowse link
G SIAE sialic acid acetylesterase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:51,879,220...51,918,974
Ensembl chr 9:51,879,224...51,918,827
JBrowse link
G SIDT2 SID1 transmembrane family member 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:44,543,648...44,559,717
Ensembl chr 9:44,543,701...44,559,715
JBrowse link
G SIK2 salt inducible kinase 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:39,368,555...39,483,519
Ensembl chr 9:39,368,599...39,483,515
JBrowse link
G SIK3 SIK family kinase 3 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:44,223,227...44,471,689
Ensembl chr 9:44,223,232...44,513,831
JBrowse link
G SLC35F2 solute carrier family 35 member F2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:36,243,059...36,341,361
Ensembl chr 9:36,288,558...36,341,284
JBrowse link
G SLC37A2 solute carrier family 37 member 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:52,237,023...52,274,124
Ensembl chr 9:52,237,420...52,272,692
JBrowse link
G SLC37A4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:46,247,278...46,254,068
Ensembl chr 9:46,247,284...46,254,031
JBrowse link
G SLN sarcolipin ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:36,232,955...36,242,405
Ensembl chr 9:36,232,968...36,242,405
JBrowse link
G SNX19 sorting nexin 19 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:57,509,186...57,558,361
Ensembl chr 9:57,510,486...57,558,339
JBrowse link
G SORL1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:48,435,350...48,653,670
Ensembl chr 9:48,435,345...48,653,655
JBrowse link
G SPA17 sperm autoantigenic protein 17 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:51,918,916...51,931,459
Ensembl chr 9:51,918,916...51,931,759
JBrowse link
G SPATA19 spermatogenesis associated 19 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:60,426,620...60,433,458
Ensembl chr 9:60,426,621...60,433,458
JBrowse link
G SRPRA SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:53,358,522...53,365,085
Ensembl chr 9:53,358,534...53,365,653
JBrowse link
G ST14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:56,888,246...56,929,771
Ensembl chr 9:56,888,246...56,929,767
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 chr 9:53,442,795...53,491,847
Ensembl chr 9:53,445,591...53,486,010
JBrowse link
G STT3A STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:52,726,794...52,754,671
Ensembl chr 9:52,724,441...52,754,669
JBrowse link
G TAGLN transgelin ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:44,561,756...44,567,385
Ensembl chr 9:44,560,785...44,567,385
JBrowse link
G TBRG1 transforming growth factor beta regulator 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:51,865,312...51,878,259
Ensembl chr 9:51,865,327...51,878,432
JBrowse link
G TECTA tectorin alpha ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:48,120,786...48,286,275
Ensembl chr 9:48,211,798...48,286,274
Ensembl chr 9:48,211,798...48,286,274
JBrowse link
G TEX12 testis expressed 12 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:39,864,093...39,869,572
Ensembl chr 9:39,864,148...39,869,979
JBrowse link
G THY1 Thy-1 cell surface antigen ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:46,607,022...46,612,691
Ensembl chr 9:46,607,494...46,612,269
JBrowse link
G THYN1 thymocyte nuclear protein 1 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:60,802,925...60,807,404
Ensembl chr 9:60,802,928...60,807,409
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 chr 9:39,788,164...39,790,563
Ensembl chr 9:39,787,405...39,790,718
JBrowse link
G TIRAP TIR domain containing adaptor protein ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:53,374,559...53,394,172
Ensembl chr 9:53,375,644...53,394,165
JBrowse link
G TLCD5 TLC domain containing 5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:47,464,840...47,472,819
Ensembl chr 9:47,464,905...47,472,764
JBrowse link
G TMEM218 transmembrane protein 218 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:52,270,691...52,302,766
Ensembl chr 9:52,260,508...52,302,638
JBrowse link
G TMEM225 transmembrane protein 225 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:50,730,121...50,732,787 JBrowse link
G TMEM25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:45,834,197...45,838,978
Ensembl chr 9:45,829,196...45,838,972
JBrowse link
G TMEM45B transmembrane protein 45B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:56,584,727...56,614,188
Ensembl chr 9:56,584,818...56,614,182
JBrowse link
G TMPRSS13 transmembrane serine protease 13 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:45,239,349...45,269,757
Ensembl chr 9:45,241,008...45,258,034
JBrowse link
G TMPRSS4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:45,400,263...45,436,936
Ensembl chr 9:45,400,600...45,435,916
JBrowse link
G TMPRSS5 transmembrane serine protease 5 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:41,326,225...41,337,834 JBrowse link
G TRAPPC4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:46,242,196...46,246,344
Ensembl chr 9:46,242,171...46,246,343
JBrowse link
G TREH trehalase ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:45,949,891...45,965,372
Ensembl chr 9:45,949,894...45,965,341
JBrowse link
G TRIM29 tripartite motif containing 29 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:47,256,314...47,284,104
Ensembl chr 9:47,256,317...47,284,006
JBrowse link
G TTC12 tetratricopeptide repeat domain 12 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:40,988,881...41,032,928
Ensembl chr 9:40,988,920...41,046,900
JBrowse link
G TTC36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:45,829,014...45,838,978
Ensembl chr 9:45,829,191...45,838,979
JBrowse link
G UBASH3B ubiquitin associated and SH3 domain containing B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:49,630,678...49,772,348
Ensembl chr 9:49,630,793...49,770,897
JBrowse link
G UBE4A ubiquitination factor E4A ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:45,661,090...45,701,911
Ensembl chr 9:45,661,106...45,704,810
JBrowse link
G UPK2 uroplakin 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:46,200,465...46,202,754
Ensembl chr 9:46,200,512...46,202,735
JBrowse link
G USP2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:46,563,469...46,590,392
Ensembl chr 9:46,563,482...46,590,392
JBrowse link
G USP28 ubiquitin specific peptidase 28 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:41,417,560...41,481,044
Ensembl chr 9:41,417,564...41,480,994
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 chr 9:46,285,718...46,297,465
Ensembl chr 9:46,285,739...46,297,474
JBrowse link
G VPS26B VPS26, retromer complex component B ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:60,786,192...60,802,507
Ensembl chr 9:60,785,998...60,805,193
JBrowse link
G VSIG2 V-set and immunoglobulin domain containing 2 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:51,974,577...51,982,884
Ensembl chr 9:51,977,460...51,982,054
JBrowse link
G VWA5A von Willebrand factor A domain containing 5A ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:51,052,113...51,100,049
Ensembl chr 9:51,052,174...51,100,045
JBrowse link
G ZBTB16 zinc finger and BTB domain containing 16 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:41,639,536...41,839,254
Ensembl chr 9:41,639,701...41,836,742
JBrowse link
G ZBTB44 zinc finger and BTB domain containing 44 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:56,947,145...57,018,803
Ensembl chr 9:56,947,391...57,017,791
JBrowse link
G ZC3H12C zinc finger CCCH-type containing 12C ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:38,133,440...38,209,365
Ensembl chr 9:38,138,004...38,207,027
JBrowse link
G ZNF202 zinc finger protein 202 ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:50,583,590...50,605,591
Ensembl chr 9:50,584,250...50,605,567
JBrowse link
G ZPR1 ZPR1 zinc finger ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:44,167,422...44,178,137
Ensembl chr 9:44,167,423...44,177,435
JBrowse link
G ZW10 zw10 kinetochore protein ISO ClinVar Annotator: match by term: Distal trisomy 11q ClinVar PMID:25741868 NCBI chr 9:41,358,801...41,400,254
Ensembl chr 9:41,348,896...41,400,208
JBrowse link
Chromosome 11p Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELP4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:28492532 NCBI chr 2:29,006,456...29,230,092
Ensembl chr 2:29,004,987...29,230,077
JBrowse link
G PAX6 paired box 6 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:9727514 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18776953 More... NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,978,287...29,001,200
JBrowse link
G WT1 WT1 transcription factor ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:6307071 More... NCBI chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997
JBrowse link
chromosome 13q14 deletion syndrome term browser
Symbol Object Name Qualifiers 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
chromosome 15q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APBA2 amyloid beta precursor protein binding family A member 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:144,183,148...144,315,154
Ensembl chr 1:144,071,859...144,315,151
JBrowse link
G ATP10A ATPase phospholipid transporting 10A (putative) ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:141,493,551...141,667,346
Ensembl chr 1:141,570,493...141,667,338
JBrowse link
G AUTS2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25205402 PMID:25741868 PMID:28505103 NCBI chr 3:13,565,439...14,794,365
Ensembl chr 3:13,565,281...14,794,365
JBrowse link
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr 1:142,803,697...142,937,124
Ensembl chr 1:142,803,701...142,937,123
JBrowse link
G CLUH clustered mitochondria homolog ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr12:48,740,117...48,763,496
Ensembl chr12:48,733,505...48,764,748
JBrowse link
G CYFIP1 cytoplasmic FMR1 interacting protein 1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr15:32,064,431...32,175,095
Ensembl chr15:32,064,475...32,175,094
JBrowse link
G ENTREP2 endosomal transmembrane epsin interactor 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:144,316,119...144,788,091
Ensembl chr 1:144,316,121...144,788,290
JBrowse link
G GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:140,486,107...140,568,204
Ensembl chr 1:140,486,104...140,567,894
JBrowse link
G GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:140,566,443...140,906,516
Ensembl chr 1:140,566,540...140,905,623
JBrowse link
G GABRG3 gamma-aminobutyric acid type A receptor subunit gamma3 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:139,855,461...140,464,592
Ensembl chr 1:139,857,095...140,464,579
JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:56,438,117...56,649,805
Ensembl chr15:56,438,148...56,649,792
JBrowse link
G LOC102165602 coiled-coil domain-containing protein 92 ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr12:48,773,571...48,800,393 JBrowse link
G MAGEL2 MAGE family member L2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:142,450,414...142,454,633
Ensembl chr 1:142,448,689...142,454,697
JBrowse link
G MKRN3 makorin ring finger protein 3 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:142,492,089...142,500,968
Ensembl chr 1:142,496,735...142,500,982
JBrowse link
G NDN necdin, MAGE family member ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:142,412,688...142,413,665
Ensembl chr 1:142,412,565...142,414,240
JBrowse link
G NIPA1 NIPA magnesium transporter 1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr15:32,208,857...32,260,064
Ensembl chr15:32,208,860...32,260,006
JBrowse link
G NIPA2 NIPA magnesium transporter 2 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr15:32,175,096...32,202,366
Ensembl chr15:32,175,104...32,202,200
JBrowse link
G NPAP1 nuclear pore associated protein 1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:233,074,862...233,080,760 JBrowse link
G NSMCE3 NSE3 homolog, SMC5-SMC6 complex component ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:144,469,617...144,474,026 JBrowse link
G OCA2 OCA2 melanosomal transmembrane protein ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr15:56,657,648...56,869,920
Ensembl chr15:56,657,616...56,869,918
JBrowse link
G OTUD7A OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar NCBI chr 1:143,109,177...143,426,305
Ensembl chr 1:143,280,174...143,419,237
JBrowse link
G PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr12:48,567,329...48,735,836
Ensembl chr12:48,628,816...48,735,834
JBrowse link
G RAP1GAP2 RAP1 GTPase activating protein 2 ISO ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr12:48,806,834...49,018,117
Ensembl chr12:48,806,772...49,018,114
JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835
G SNURF SNRPN upstream open reading frame ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835
G TJP1 tight junction protein 1 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:31690835 NCBI chr 1:144,930,387...145,195,857
Ensembl chr 1:144,930,370...145,195,836
JBrowse link
G TUBGCP5 tubulin gamma complex component 5 ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr15:31,995,727...32,042,297
Ensembl chr15:31,995,741...32,056,755
JBrowse link
G UBE3A ubiquitin protein ligase E3A ISO ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 1:141,887,179...142,001,595
Ensembl chr 1:141,887,227...141,995,003
JBrowse link
chromosome 15q13.3 microdeletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 1:142,803,697...142,937,124
Ensembl chr 1:142,803,701...142,937,123
JBrowse link
G FAN1 FANCD2 and FANCI associated nuclease 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 1:143,919,695...143,961,678
Ensembl chr 1:143,913,551...143,961,646
JBrowse link
G KLF13 KLF transcription factor 13 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 1:143,499,136...143,540,233
Ensembl chr 1:143,493,527...143,540,563
JBrowse link
G MTMR10 myotubularin related protein 10 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 1:143,867,746...143,917,881
Ensembl chr 1:143,867,839...143,917,878
JBrowse link
G OTUD7A OTU deubiquitinase 7A ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 1:143,109,177...143,426,305
Ensembl chr 1:143,280,174...143,419,237
JBrowse link
G TRPM1 transient receptor potential cation channel subfamily M member 1 ISO ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome ClinVar PMID:31690835 NCBI chr 1:143,718,295...143,856,968
Ensembl chr 1:143,709,864...143,855,984
JBrowse link
chromosome 15q24 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIMAP1C ciliary microtubule associated protein 1C ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 7:57,935,284...57,939,020
Ensembl chr 7:57,935,610...57,938,958
JBrowse link
G COMMD4 COMM domain containing 4 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 7:58,276,954...58,283,128
Ensembl chr 7:58,276,957...58,283,114
JBrowse link
G CSPG4 chondroitin sulfate proteoglycan 4 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 7:57,949,182...57,988,602
Ensembl chr 7:57,949,455...57,988,335
JBrowse link
G IMP3 IMP U3 small nucleolar ribonucleoprotein 3 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 7:58,023,368...58,024,496
Ensembl chr 7:58,023,368...58,024,496
JBrowse link
G MAN2C1 mannosidase alpha class 2C member 1 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 7:58,247,264...58,261,204
Ensembl chr 7:58,248,384...58,261,203
JBrowse link
G NEIL1 nei like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 7:58,261,761...58,269,001
Ensembl chr 7:58,261,769...58,268,522
JBrowse link
G PTPN9 protein tyrosine phosphatase non-receptor type 9 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 7:58,078,176...58,164,411
Ensembl chr 7:58,078,389...58,164,405
JBrowse link
G SIN3A SIN3 transcription regulator family member A ISO ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome | ClinVar Annotator: match by term: SIN3A-related intellectual disability syndrome | ClinVar Annotator: match by term: Witteveen-kolk syndrome OMIM
ClinVar
PMID:18755302 PMID:19557438 PMID:21681106 PMID:25741868 PMID:27399968 More... NCBI chr 7:58,171,821...58,246,126
Ensembl chr 7:58,176,167...58,245,971
JBrowse link
G SNUPN snurportin 1 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 7:58,038,917...58,065,972
Ensembl chr 7:58,038,995...58,071,243
JBrowse link
G SNX33 sorting nexin 33 ISO ClinVar Annotator: match by term: Witteveen-kolk syndrome ClinVar PMID:18755302 PMID:19557438 PMID:21681106 NCBI chr 7:57,999,447...58,015,598
Ensembl chr 7:57,999,459...58,014,441
JBrowse link
chromosome 15q26-qter deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 17 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:138,619,701...139,015,681
Ensembl chr 1:138,619,706...139,015,473
JBrowse link
G ALDH1A3 aldehyde dehydrogenase 1 family member A3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:139,451,080...139,491,514
Ensembl chr 1:139,451,049...139,491,511
JBrowse link
G ASB7 ankyrin repeat and SOCS box containing 7 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:139,191,407...139,240,206
Ensembl chr 1:139,191,572...139,240,185
JBrowse link
G CERS3 ceramide synthase 3 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:139,027,604...139,154,830
Ensembl chr 1:139,030,642...139,136,874
JBrowse link
G CHSY1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:139,730,703...139,804,458
Ensembl chr 1:139,730,721...139,804,657
JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058
JBrowse link
G LINS1 lines homolog 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:139,168,859...139,191,238
Ensembl chr 1:139,168,785...139,191,163
JBrowse link
G LRRC28 leucine rich repeat containing 28 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:137,998,540...138,194,848
Ensembl chr 1:137,998,554...138,203,466
JBrowse link
G LRRK1 leucine rich repeat kinase 1 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:139,494,126...139,624,609
Ensembl chr 1:139,494,121...139,624,604
JBrowse link
G LYSMD4 LysM domain containing 4 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:138,560,985...138,567,570
Ensembl chr 1:138,560,995...138,567,562
JBrowse link
G MEF2A myocyte enhancer factor 2A ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:138,398,270...138,508,639
Ensembl chr 1:138,341,158...138,511,314
JBrowse link
G PGPEP1L pyroglutamyl-peptidase I like ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:137,307,784...137,384,465
Ensembl chr 1:137,308,438...137,380,864
JBrowse link
G SYNM synemin ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:137,855,644...137,883,914 JBrowse link
G TTC23 tetratricopeptide repeat domain 23 ISO ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome ClinVar PMID:31690835 NCBI chr 1:137,870,897...137,997,201
Ensembl chr 1:137,886,405...137,997,131
JBrowse link
chromosome 16p11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDOA aldolase, fructose-bisphosphate A ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,246,036...18,260,167
Ensembl chr 3:18,253,384...18,260,163
JBrowse link
G ASPHD1 aspartate beta-hydroxylase domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,120,915...18,124,519 JBrowse link
G ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 3:18,545,064...18,568,312
Ensembl chr 3:18,545,071...18,568,310
JBrowse link
G ATXN2L ataxin 2 like ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 3:18,506,082...18,519,060
Ensembl chr 3:18,506,052...18,519,056
JBrowse link
G BOLA2B bolA family member 2B ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr 3:18,345,691...18,351,508 JBrowse link
G C3H16orf54 chromosome 3 C16orf54 homolog ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,011,402...18,014,281 JBrowse link
G C3H16orf92 chromosome 3 C16orf92 homolog ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,222,923...18,223,528 JBrowse link
G CD19 CD19 molecule ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 3:18,592,785...18,601,273
Ensembl chr 3:18,592,880...18,601,263
JBrowse link
G CDIPT CDP-diacylglycerol--inositol 3-phosphatidyltransferase ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,087,497...18,095,015
Ensembl chr 3:18,084,549...18,091,798
JBrowse link
G CORO1A coronin 1A ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,336,813...18,342,381
Ensembl chr 3:18,336,898...18,342,396
JBrowse link
G DOC2A double C2 domain alpha ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,211,264...18,216,096
Ensembl chr 3:18,210,965...18,216,102
JBrowse link
G GDPD3 glycerophosphodiester phosphodiesterase domain containing 3 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,282,574...18,291,307
Ensembl chr 3:18,282,889...18,292,092
JBrowse link
G HIRIP3 HIRA interacting protein 3 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,198,809...18,201,907
Ensembl chr 3:18,198,807...18,202,089
JBrowse link
G INO80E INO80 complex subunit E ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,202,092...18,212,187
Ensembl chr 3:18,202,134...18,212,186
JBrowse link
G KCTD13 potassium channel tetramerization domain containing 13 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,124,628...18,141,589
Ensembl chr 3:18,124,573...18,141,565
JBrowse link
G KIF22 kinesin family member 22 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,023,104...18,041,732
Ensembl chr 3:18,023,096...18,041,730
JBrowse link
G LAT linker for activation of T cells ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 3:18,638,992...18,644,353
Ensembl chr 3:18,639,151...18,644,348
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567
JBrowse link
G MAZ MYC associated zinc finger protein ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,043,032...18,047,531
Ensembl chr 3:18,042,007...18,047,530
JBrowse link
G MVP major vault protein ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,056,548...18,081,169
Ensembl chr 3:18,057,177...18,081,155
JBrowse link
G NFATC2IP nuclear factor of activated T cells 2 interacting protein ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 3:18,609,943...18,624,150
Ensembl chr 3:18,609,912...18,622,640
JBrowse link
G PAGR1 PAXIP1 associated glutamate rich protein 1 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,052,679...18,056,920
Ensembl chr 3:18,052,935...18,056,837
JBrowse link
G PPP4C protein phosphatase 4 catalytic subunit ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,262,817...18,271,588
Ensembl chr 3:18,262,823...18,271,586
JBrowse link
G PRRT2 proline rich transmembrane protein 2 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,048,614...18,052,481
Ensembl chr 3:18,048,618...18,052,480
JBrowse link
G QPRT quinolinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:17,987,223...18,001,712
Ensembl chr 3:17,987,242...18,001,711
JBrowse link
G RABEP2 rabaptin, RAB GTPase binding effector protein 2 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 3:18,568,264...18,586,259
Ensembl chr 3:18,568,266...18,585,925
JBrowse link
G SEZ6L2 seizure related 6 homolog like 2 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,098,109...18,119,522
Ensembl chr 3:18,098,102...18,119,558
JBrowse link
G SFTPA1 surfactant protein A1 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 NCBI chr14:82,091,178...82,095,393
Ensembl chr14:82,091,178...82,095,393
JBrowse link
G SH2B1 SH2B adaptor protein 1 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 3:18,533,282...18,543,133
Ensembl chr 3:18,524,820...18,543,135
JBrowse link
G SLX1A SLX1 homolog A, structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:31690835 NCBI chr 3:18,346,501...18,349,509 JBrowse link
G SPN sialophorin ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:17,978,731...17,982,222
Ensembl chr 3:17,978,801...17,982,864
JBrowse link
G SPNS1 SPNS lysolipid transporter 1, lysophospholipid ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 3:18,629,646...18,638,442
Ensembl chr 3:18,629,646...18,639,214
JBrowse link
G TAOK2 TAO kinase 2 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,178,347...18,198,092
Ensembl chr 3:18,177,737...18,198,085
JBrowse link
G TBX6 T-box transcription factor 6 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,271,983...18,277,864
Ensembl chr 3:18,271,983...18,277,580
JBrowse link
G TLCD3B TLC domain containing 3B ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,224,652...18,231,416
Ensembl chr 3:18,223,875...18,231,844
JBrowse link
G TMEM219 transmembrane protein 219 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,166,771...18,177,834
Ensembl chr 3:18,167,923...18,176,563
JBrowse link
G TUFM Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome ClinVar PMID:25741868 PMID:31690835 PMID:32238909 NCBI chr 3:18,521,119...18,524,705
Ensembl chr 3:18,521,128...18,524,959
JBrowse link
G YPEL3 yippee like 3 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,277,999...18,281,342
Ensembl chr 3:18,278,002...18,281,298
JBrowse link
G ZG16 zymogen granule protein 16 ISO ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome ClinVar PMID:25741868 PMID:31690835 NCBI chr 3:18,018,866...18,019,501 JBrowse link
chromosome 16p12.1 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDR2 cerebellar degeneration related protein 2 ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 3:23,796,803...23,835,255
Ensembl chr 3:23,796,773...23,835,247
JBrowse link
G EEF2K eukaryotic elongation factor 2 kinase ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 3:23,887,120...23,980,231
Ensembl chr 3:23,887,125...23,956,373
JBrowse link
G MOSMO modulator of smoothened ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 3:24,107,878...24,176,161
Ensembl chr 3:24,107,877...24,176,166
JBrowse link
G PDZD9 PDZ domain containing 9 ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 3:24,176,240...24,201,861
Ensembl chr 3:24,185,627...24,201,541
JBrowse link
G POLR3E RNA polymerase III subunit E ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 3:23,846,979...23,880,631
Ensembl chr 3:23,846,359...23,880,614
JBrowse link
G SDR42E2 short chain dehydrogenase/reductase family 42E, member 2 ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 3:23,989,671...24,026,548
Ensembl chr 3:23,990,242...24,023,024
JBrowse link
G UQCRC2 ubiquinol-cytochrome c reductase core protein 2 ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 3:24,197,743...24,228,831
Ensembl chr 3:24,197,747...24,228,832
JBrowse link
G VWA3A von Willebrand factor A domain containing 3A ISO ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb ClinVar PMID:25741868 NCBI chr 3:24,028,836...24,097,582
Ensembl chr 3:24,031,331...24,097,393
JBrowse link
chromosome 16q22 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACD ACD shelterin complex subunit and telomerase recruitment factor ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 6:28,277,649...28,280,409
Ensembl chr 6:28,277,614...28,280,405
JBrowse link
G C6H16orf86 chromosome 6 C16orf86 homolog ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 6:28,287,414...28,289,248
Ensembl chr 6:28,287,414...28,289,406
JBrowse link
G CARMIL2 capping protein regulator and myosin 1 linker 2 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 6:28,265,130...28,277,649
Ensembl chr 6:28,265,135...28,277,641
JBrowse link
G CTCF CCCTC-binding factor ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 6:28,188,002...28,261,009
Ensembl chr 6:28,195,647...28,261,009
JBrowse link
G ENKD1 enkurin domain containing 1 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 6:28,283,108...28,289,266
Ensembl chr 6:28,283,117...28,287,306
JBrowse link
G GFOD2 Gfo/Idh/MocA-like oxidoreductase domain containing 2 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 6:28,293,957...28,348,197
Ensembl chr 6:28,293,967...28,348,161
JBrowse link
G PARD6A par-6 family cell polarity regulator alpha ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 6:28,280,502...28,282,923
Ensembl chr 6:28,280,502...28,283,788
JBrowse link
G RANBP10 RAN binding protein 10 ISO ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome ClinVar PMID:25741868 NCBI chr 6:28,352,001...28,428,383
Ensembl chr 6:28,352,003...28,428,370
JBrowse link
Chromosome 17 Deletion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KANSL1 KAT8 regulatory NSL complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22544363 PMID:22544367 NCBI chr12:16,901,611...17,096,912
Ensembl chr12:16,903,450...17,096,916
JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14961032 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
JBrowse link
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNF135 ring finger protein 135 ISO ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome ClinVar PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 More... NCBI chr12:42,793,755...42,808,937
Ensembl chr12:42,795,409...42,808,897
JBrowse link
chromosome 17q12 deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AATF apoptosis antagonizing transcription factor ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr12:38,461,809...38,563,537
Ensembl chr12:38,461,830...38,564,306
JBrowse link
G ACACA acetyl-CoA carboxylase alpha ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr12:38,580,916...38,875,067
Ensembl chr12:38,581,457...38,824,712
JBrowse link
G C12H17orf78 chromosome 12 C17orf78 homolog ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr12:38,840,980...38,860,454
Ensembl chr12:38,841,849...38,855,036
JBrowse link
G CCL3L1 chemokine (C-C motif) ligand 3-like 1 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr12:39,491,999...39,493,345
Ensembl chr12:39,491,914...39,493,774
JBrowse link
G CCL4 C-C motif chemokine ligand 4 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,882...39,481,082
JBrowse link
G DDX52 DExD-box helicase 52 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr12:39,072,310...39,095,558
Ensembl chr12:39,072,314...39,143,685
JBrowse link
G DHRS11 dehydrogenase/reductase 11 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr12:38,114,017...38,123,360
Ensembl chr12:38,113,912...38,123,839
JBrowse link
G DUSP14 dual specificity phosphatase 14 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr12:38,941,052...38,978,568
Ensembl chr12:38,941,124...38,975,000
JBrowse link
G GGNBP2 gametogenetin binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr12:38,074,033...38,111,719
Ensembl chr12:38,074,094...38,111,710
JBrowse link
G HNF1B HNF1 homeobox B ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr12:39,143,119...39,201,631
Ensembl chr12:39,143,121...39,201,631
JBrowse link
G LHX1 LIM homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr12:38,450,708...38,457,583
Ensembl chr12:38,450,708...38,456,139
JBrowse link
G LOC100515857 C-C motif chemokine 3 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr12:39,521,649...39,575,970 JBrowse link
G MRM1 mitochondrial rRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr12:38,123,505...38,143,894
Ensembl chr12:38,124,400...38,144,083
JBrowse link
G MRPL45 mitochondrial ribosomal protein L45 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr12:23,751,921...23,766,476
Ensembl chr12:23,751,926...23,766,459
JBrowse link
G MYO19 myosin XIX ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr12:38,020,102...38,073,968
Ensembl chr12:38,020,110...38,061,883
JBrowse link
G PIGW phosphatidylinositol glycan anchor biosynthesis class W ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr12:38,059,674...38,065,702
Ensembl chr12:38,061,927...38,065,713
JBrowse link
G SYNRG synergin gamma ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr12:38,974,567...39,069,868
Ensembl chr12:38,975,916...39,069,798
JBrowse link
G TADA2A transcriptional adaptor 2A ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr12:38,875,156...38,928,011
Ensembl chr12:38,875,250...38,928,005
JBrowse link
G ZNHIT3 zinc finger HIT-type containing 3 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr12:38,013,931...38,027,928
Ensembl chr12:38,013,963...38,022,927
JBrowse link
chromosome 18p deletion syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:97,200,890...97,234,577
Ensembl chr 6:97,200,922...97,235,366
JBrowse link
G AKAIN1 A-kinase anchor inhibitor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:101,786,506...101,873,213
Ensembl chr 6:101,816,967...101,873,206
JBrowse link
G ANKRD12 ankyrin repeat domain 12 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:98,697,207...98,814,727
Ensembl chr 6:98,697,174...98,815,336
JBrowse link
G APCDD1 APC down-regulated 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:97,991,418...98,026,590
Ensembl chr 6:97,992,233...98,026,766
JBrowse link
G ARHGAP28 Rho GTPase activating protein 28 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:100,494,385...100,681,008
Ensembl chr 6:100,494,652...100,655,708
JBrowse link
G CEP192 centrosomal protein 192 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:96,611,560...96,733,800
Ensembl chr 6:96,710,701...96,733,795
Ensembl chr 6:96,710,701...96,733,795
JBrowse link
G CEP76 centrosomal protein 76 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:96,893,529...96,913,226
Ensembl chr 6:96,893,571...96,912,389
JBrowse link
G CHMP1B charged multivesicular body protein 1B ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:97,356,924...97,359,613 JBrowse link
G CIDEA cell death inducing DFFA like effector a ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:97,253,074...97,268,355
Ensembl chr 6:97,253,074...97,267,405
JBrowse link
G DLGAP1 DLG associated protein 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:102,333,088...103,199,841
Ensembl chr 6:102,642,677...103,199,837
JBrowse link
G EMILIN2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:103,730,618...103,786,921
Ensembl chr 6:103,730,626...103,786,927
JBrowse link
G EPB41L3 erythrocyte membrane protein band 4.1 like 3 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:101,420,376...101,671,177
Ensembl chr 6:101,420,396...101,671,169
JBrowse link
G FAM210A family with sequence similarity 210 member A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:96,363,440...96,394,001
Ensembl chr 6:96,384,758...96,393,999
JBrowse link
G GNAL G protein subunit alpha L ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:97,342,468...97,429,334
Ensembl chr 6:97,342,474...97,429,364
JBrowse link
G IMPA2 inositol monophosphatase 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:97,280,008...97,309,729
Ensembl chr 6:97,280,010...97,309,745
JBrowse link
G LAMA1 laminin subunit alpha 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:100,332,843...100,468,457
Ensembl chr 6:100,332,956...100,468,454
JBrowse link
G LDLRAD4 low density lipoprotein receptor class A domain containing 4 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:96,401,650...96,578,162
Ensembl chr 6:96,401,654...96,577,643
JBrowse link
G LOC733637 myosin regulatory light chain 2 protein ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:103,413,841...103,424,790
Ensembl chr 6:103,409,717...103,420,286
JBrowse link
G LPIN2 lipin 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:103,625,725...103,728,151
Ensembl chr 6:103,687,743...103,728,148
JBrowse link
G LRRC30 leucine rich repeat containing 30 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:100,290,257...100,292,242 JBrowse link
G MC2R melanocortin 2 receptor ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:96,241,744...96,268,870
Ensembl chr 6:96,265,764...96,266,657
JBrowse link
G MC5R melanocortin 5 receptor ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:96,322,276...96,323,795
Ensembl chr 6:96,322,422...96,323,339
JBrowse link
G MPPE1 metallophosphoesterase 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:97,324,652...97,344,068
Ensembl chr 6:97,324,727...97,344,736
JBrowse link
G MTCL1 microtubule crosslinking factor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:99,062,347...99,178,570
Ensembl chr 6:99,062,354...99,178,468
JBrowse link
G MYOM1 myomesin 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:103,451,206...103,593,093
Ensembl chr 6:103,451,343...103,597,297
JBrowse link
G NAPG NSF attachment protein gamma ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:97,961,307...97,974,974
Ensembl chr 6:97,961,313...97,974,636
JBrowse link
G NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:98,819,156...98,852,561
Ensembl chr 6:98,815,885...98,852,524
JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:97,644,115...97,945,693
Ensembl chr 6:97,643,978...97,944,456
JBrowse link
G PPP4R1 protein phosphatase 4 regulatory subunit 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:98,462,833...98,539,649
Ensembl chr 6:98,462,855...98,544,477
JBrowse link
G PRELID3A PRELI domain containing 3A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:97,140,129...97,200,792
Ensembl chr 6:97,146,206...97,172,533
JBrowse link
G PSMG2 proteasome assembly chaperone 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:96,879,009...96,893,551
Ensembl chr 6:96,878,139...96,893,474
JBrowse link
G PTPN2 protein tyrosine phosphatase non-receptor type 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:96,769,862...96,847,136
Ensembl chr 6:96,770,253...96,847,125
JBrowse link
G PTPRM protein tyrosine phosphatase receptor type M ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:99,350,301...100,092,966
Ensembl chr 6:99,350,303...100,092,883
JBrowse link
G RAB12 RAB12, member RAS oncogene family ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:99,216,225...99,244,627
Ensembl chr 6:99,216,228...99,244,868
JBrowse link
G RAB31 RAB31, member RAS oncogene family ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:98,278,644...98,385,857
Ensembl chr 6:98,278,647...98,385,795
JBrowse link
G RALBP1 ralA binding protein 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:98,550,925...98,598,945
Ensembl chr 6:98,550,933...98,598,206
JBrowse link
G RNMT RNA guanine-7 methyltransferase ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:96,338,283...96,362,814
Ensembl chr 6:96,338,288...96,360,169
JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:103,809,732...103,986,057
Ensembl chr 6:103,808,066...103,965,335
JBrowse link
G SPIRE1 spire type actin nucleation factor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 6:96,934,023...97,114,591
Ensembl chr 6:96,934,227...97,114,587
JBrowse link
G TGIF1 TGFB induced factor homeobox 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835