RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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.
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Term: | Aneuploidy |
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Accession: | DOID:9008692
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browse the term
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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 |
For additional species annotation, visit the
Alliance of Genome Resources.
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Aurka |
aurora kinase A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24976383 |
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NCBI chr 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390
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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 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547
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Ckap5 |
cytoskeleton associated protein 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24976383 |
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NCBI chr 3:77,491,195...77,593,300
Ensembl chr 3:77,491,276...77,593,264
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Kif11 |
kinesin family member 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17974955 |
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NCBI chr 1:235,124,371...235,176,760
Ensembl chr 1:235,124,316...235,176,766
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Tlx1 |
T-cell leukemia, homeobox 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20972433 |
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NCBI chr 1:244,005,057...244,011,318
Ensembl chr 1:244,005,057...244,011,318
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Trip13 |
thyroid hormone receptor interactor 13 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28553959 |
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NCBI chr 1:29,357,093...29,402,078
Ensembl chr 1:29,357,130...29,402,074
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Aldoa |
aldolase, fructose-bisphosphate A |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182
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Aldoart2 |
aldolase 1 A retrogene 2 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
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NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709
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Asphd1 |
aspartate beta-hydroxylase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,552,974...181,556,842
Ensembl chr 1:181,552,884...181,556,090
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Atp2a1 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 1:181,026,606...181,044,859
Ensembl chr 1:181,026,608...181,044,838
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Atxn2l |
ataxin 2-like |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 1:181,078,293...181,090,079
Ensembl chr 1:181,078,288...181,089,686
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Bola2 |
bolA family member 2 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
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NCBI chr 1:181,291,777...181,292,836
Ensembl chr 1:181,291,398...181,292,676
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C1h16orf54 |
similar to human chromosome 16 open reading frame 54 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,702,447...181,705,128
Ensembl chr 1:181,702,503...181,705,835
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C1h16orf92 |
similar to human chromosome 16 open reading frame 92 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,434,524...181,441,000
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Cd19 |
CD19 molecule |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
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Cdipt |
CDP-diacylglycerol--inositol 3-phosphatidyltransferase |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,583,098...181,587,409
Ensembl chr 1:181,583,141...181,587,408
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Cdiptos |
CDIP transferase, opposite strand |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
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NCBI chr 1:181,579,391...181,583,017
Ensembl chr 1:181,579,387...181,582,860
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Coro1a |
coronin 1A |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534
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Doc2a |
double C2 domain alpha |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,457,415...181,462,528
Ensembl chr 1:181,458,390...181,462,030
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Eif3c |
eukaryotic translation initiation factor 3, subunit C |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,134,604...181,152,489
Ensembl chr 1:181,134,604...181,152,493
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Gdpd3 |
glycerophosphodiester phosphodiesterase domain containing 3 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063
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Hirip3 |
HIRA interacting protein 3 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,472,056...181,475,082
Ensembl chr 1:181,472,056...181,475,079
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Ino80e |
INO80 complex subunit E |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,461,406...181,472,059
Ensembl chr 1:181,461,408...181,472,469
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Kctd13 |
potassium channel tetramerization domain containing 13 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,534,534...181,552,843
Ensembl chr 1:181,534,515...181,552,881
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Kif22 |
kinesin family member 22 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401
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Lat |
linker for activation of T cells |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 1:180,936,536...180,941,561
Ensembl chr 1:180,936,534...180,941,578
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Mapk3 |
mitogen activated protein kinase 3 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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Maz |
MYC associated zinc finger protein |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,629,742...181,635,193
Ensembl chr 1:181,629,729...181,650,408
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Mvp |
major vault protein |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380
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Nfatc2ip |
nuclear factor of activated T-cells 2 interacting protein |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 1:180,954,834...180,971,847
Ensembl chr 1:180,955,043...180,971,747
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Pagr1 |
Paxip1-associated glutamate-rich protein 1 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,622,708...181,624,996
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Ppp4c |
protein phosphatase 4, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,392,899...181,399,703
Ensembl chr 1:181,392,923...181,399,659
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Prrt2 |
proline-rich transmembrane protein 2 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,625,243...181,628,905
Ensembl chr 1:181,604,545...181,628,850
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Qprt |
quinolinate phosphoribosyltransferase |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,718,189...181,733,486
Ensembl chr 1:181,718,190...181,733,486
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Rabep2 |
rabaptin, RAB GTPase binding effector protein 2 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 1:181,010,305...181,026,651
Ensembl chr 1:181,010,305...181,026,648
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Sez6l2 |
seizure related 6 homolog like 2 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,557,109...181,577,456
Ensembl chr 1:181,557,109...181,577,456
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Sftpa1 |
surfactant protein A1 |
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ISO |
ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 |
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NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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Sh2b1 |
SH2B adaptor protein 1 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 1:181,048,622...181,057,036
Ensembl chr 1:181,048,623...181,056,579
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Slx1b |
SLX1 homolog B, structure-specific endonuclease subunit |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,286,190...181,291,739
Ensembl chr 1:181,283,921...181,291,775
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Spn |
sialophorin |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,746,937...181,759,564
Ensembl chr 1:181,746,429...181,759,628
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Spns1 |
sphingolipid transporter 1 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 1:180,942,088...180,949,415
Ensembl chr 1:180,942,088...180,949,370
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Taok2 |
TAO kinase 2 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,475,708...181,494,738
Ensembl chr 1:181,475,711...181,494,613
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Tbx6 |
T-box transcription factor 6 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593
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Tlcd3b |
TLC domain containing 3B |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,421,104...181,439,744
Ensembl chr 1:181,422,830...181,439,743
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Tmem219 |
transmembrane protein 219 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,496,194...181,509,258
Ensembl chr 1:181,496,192...181,534,472
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Tufm |
Tu translation elongation factor, mitochondrial |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 1:181,073,788...181,077,395
Ensembl chr 1:181,073,788...181,077,395
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Ypel3 |
yippee-like 3 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,384,385...181,387,706
Ensembl chr 1:181,384,357...181,387,705
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Zg16 |
zymogen granule protein 16 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,657,722...181,660,079
Ensembl chr 1:181,657,722...181,660,079
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Acsf3 |
acyl-CoA synthetase family member 3 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553
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Ankrd11 |
ankyrin repeat domain containing 11 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962
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Aprt |
adenine phosphoribosyl transferase |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:50,626,436...50,628,404
Ensembl chr19:50,626,202...50,628,431
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Banp |
Btg3 associated nuclear protein |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:50,007,710...50,082,742
Ensembl chr19:50,007,881...50,082,738
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Car5a |
carbonic anhydrase 5A |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:49,973,092...50,002,948
Ensembl chr19:49,973,107...50,002,906
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Cbfa2t3 |
CBFA2/RUNX1 partner transcriptional co-repressor 3 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:50,679,897...50,750,028
Ensembl chr19:50,680,729...50,749,610
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Cdh15 |
cadherin 15 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105
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Cdt1 |
chromatin licensing and DNA replication factor 1 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659
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Cpne7 |
copine 7 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:51,164,316...51,182,677
Ensembl chr19:51,166,034...51,182,677
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Ctu2 |
cytosolic thiouridylase subunit 2 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623
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Cyba |
cytochrome b-245 alpha chain |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Fbxo31 |
F-box protein 31 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:49,624,818...49,656,083
Ensembl chr19:49,627,686...49,656,010
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Galns |
galactosamine (N-acetyl)-6-sulfatase |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246
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Il17c |
interleukin 17C |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:50,484,890...50,486,169
Ensembl chr19:50,484,890...50,486,169
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Jph3 |
junctophilin 3 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338
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Klhdc4 |
kelch domain containing 4 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:49,860,975...49,894,027
Ensembl chr19:49,860,967...49,894,868
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LOC687560 |
hypothetical protein LOC687560 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:49,605,818...49,619,235
Ensembl chr19:49,605,818...49,618,702
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Map1lc3b |
microtubule-associated protein 1 light chain 3 beta |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:49,665,795...49,673,655
Ensembl chr19:49,665,791...49,677,690
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Mvd |
mevalonate diphosphate decarboxylase |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:50,496,366...50,506,389
Ensembl chr19:50,496,367...50,507,971
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Pabpn1l |
PABPN1 like |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:50,669,965...50,673,409
Ensembl chr19:50,669,967...50,673,366
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Piezo1 |
piezo-type mechanosensitive ion channel component 1 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
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Rnf166 |
ring finger protein 166 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:50,529,434...50,539,274
Ensembl chr19:50,529,434...50,539,274
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Rpl13 |
ribosomal protein L13 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014
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Slc7a5 |
solute carrier family 7 member 5 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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G |
Snai3 |
snail family transcriptional repressor 3 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:50,516,771...50,529,295
Ensembl chr19:50,516,771...50,523,486
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G |
Trappc2l |
trafficking protein particle complex subunit 2L |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
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NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192
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G |
Zc3h18 |
zinc finger CCCH-type containing 18 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
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NCBI chr19:50,434,864...50,479,855
Ensembl chr19:50,434,903...50,479,854
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G |
Zcchc14 |
zinc finger CCHC-type containing 14 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
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NCBI chr19:49,674,185...49,718,004
Ensembl chr19:49,674,195...49,718,029
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G |
Zfp26 |
zinc finger protein 26 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
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NCBI chr 8:18,959,656...18,985,647
Ensembl chr 8:18,965,271...18,988,325
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G |
Zfp469 |
zinc finger protein 469 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
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NCBI chr19:50,282,434...50,324,010
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G |
Zfpm1 |
zinc finger protein, multitype 1 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr19:50,334,352...50,391,029
Ensembl chr19:50,334,682...50,390,591
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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 chr13:68,673,702...68,839,742
Ensembl chr13:68,673,722...68,839,742
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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 chr13:67,726,786...67,863,392
Ensembl chr13:67,726,786...67,862,311
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G |
Angptl1 |
angiopoietin-like 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:68,963,198...68,969,742
Ensembl chr13:68,962,991...68,992,570
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G |
Ankrd45 |
ankyrin repeat domain 45 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
Ensembl chr13:73,424,480...73,450,466
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G |
Astn1 |
astrotactin 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:70,537,423...70,855,440
Ensembl chr13:70,537,703...70,855,440
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G |
Atp1b1 |
ATPase Na+/K+ transporting subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:76,786,580...76,807,096
Ensembl chr13:76,786,578...76,807,459
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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 chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172
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|
G |
Blzf1 |
basic leucine zipper nuclear factor 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:76,641,757...76,656,977
Ensembl chr13:76,641,515...76,656,999
|
|
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 chr13:70,431,006...70,532,766
Ensembl chr13:70,431,010...70,531,810
|
|
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 chr13:66,574,659...67,063,443
Ensembl chr13:66,581,920...66,894,450
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G |
Cacybp |
calcyclin binding protein |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:72,437,485...72,447,810
Ensembl chr13:72,437,490...72,450,177
|
|
G |
Ccdc181 |
coiled-coil domain containing 181 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:76,624,567...76,638,224
Ensembl chr13:76,624,567...76,638,224
|
|
G |
Cenpl |
centromere protein L |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:73,337,235...73,352,115
Ensembl chr13:73,337,257...73,352,114
|
|
G |
Cep350 |
centrosomal protein 350 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:68,023,327...68,164,478
Ensembl chr13:68,026,891...68,165,214
|
|
G |
Cop1 |
COP1, E3 ubiquitin ligase |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:71,467,164...71,561,826
Ensembl chr13:71,429,961...71,538,890
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|
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 chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934
|
|
G |
Dhx9 |
DExH-box helicase 9 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:65,602,322...65,639,098
Ensembl chr13:65,602,323...65,639,069
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|
G |
Dnm3 |
dynamin 3 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:74,359,043...74,838,135
Ensembl chr13:74,359,213...74,838,108
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|
G |
F5 |
coagulation factor V |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
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|
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 chr13:68,262,867...68,341,323
Ensembl chr13:68,262,872...68,341,049
|
|
G |
Fam20b |
FAM20B, glycosaminoglycan xylosylkinase |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:68,801,663...68,839,979
Ensembl chr13:68,801,669...68,839,915
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|
G |
Faslg |
Fas ligand |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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|
G |
Fmo1 |
flavin containing dimethylaniline monoxygenase 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:75,182,184...75,214,439
Ensembl chr13:75,182,176...75,214,647
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|
G |
Fmo2 |
flavin containing dimethylaniline monoxygenase 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:75,221,149...75,244,377
Ensembl chr13:75,224,402...75,244,308
|
|
G |
Fmo3 |
flavin containing dimethylaniline monoxygenase 3 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:75,309,367...75,334,915
Ensembl chr13:75,309,374...75,328,028
|
|
G |
Fmo4 |
flavin containing dimethylaniline monoxygenase 4 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:75,154,683...75,172,932
Ensembl chr13:75,154,684...75,172,874
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|
G |
Gas5 |
growth arrest specific 5 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:73,303,611...73,306,932
|
|
G |
Glul |
glutamate-ammonia ligase |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:65,969,064...66,035,121
Ensembl chr13:66,025,630...66,035,108
|
|
G |
Gorab |
golgin, RAB6-interacting |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:75,745,678...75,762,307
Ensembl chr13:75,745,680...75,762,298
|
|
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 chr13:72,800,265...72,804,989
Ensembl chr13:72,800,127...72,806,180
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|
G |
Ier5 |
immediate early response 5 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:67,270,134...67,272,226
Ensembl chr13:67,270,135...67,272,227
|
|
G |
Kiaa0040 |
KIAA0040 ortholog |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:72,274,519...72,312,103
Ensembl chr13:72,274,552...72,312,103
|
|
G |
Kifap3 |
kinesin-associated protein 3 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:76,127,702...76,264,654
Ensembl chr13:76,127,696...76,264,650
|
|
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 chr13:73,363,451...73,408,346
Ensembl chr13:73,363,455...73,408,337
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G |
Lamc1 |
laminin subunit gamma 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:65,374,372...65,501,492
Ensembl chr13:65,374,372...65,501,492
|
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G |
Lamc2 |
laminin subunit gamma 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:65,284,664...65,344,200
Ensembl chr13:65,284,664...65,344,200
|
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G |
Lhx4 |
LIM homeobox 4 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:67,873,618...67,927,003
Ensembl chr13:67,877,109...67,927,003
|
|
G |
LOC498265 |
similar to hypothetical protein FLJ10706 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:76,301,914...76,345,842
Ensembl chr13:76,301,918...76,345,804
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G |
Mettl13 |
methyltransferase 13, eEF1A lysine and N-terminal methyltransferase |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:74,886,151...74,899,937
Ensembl chr13:74,886,155...74,899,870
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G |
Mettl18 |
methyltransferase like 18 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:76,345,888...76,348,798
Ensembl chr13:76,345,957...76,348,836
|
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G |
Mir199a2 |
microRNA 199a-2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:74,582,954...74,583,063
Ensembl chr13:74,582,954...74,583,063
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G |
Mir214 |
microRNA 214 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:74,588,374...74,588,481
Ensembl chr13:74,588,372...74,588,481
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G |
Mir3120 |
microRNA 3120 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:74,588,376...74,588,492
Ensembl chr13:74,588,372...74,588,481
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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 chr13:67,298,362...67,317,985
Ensembl chr13:67,299,585...67,317,970
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G |
Mroh9 |
maestro heat-like repeat family member 9 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:75,387,800...75,443,118
Ensembl chr13:75,387,746...75,443,092
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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 chr13:72,429,168...72,434,915
Ensembl chr13:72,408,558...72,434,915
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G |
Myoc |
myocilin |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:74,976,730...74,987,128
Ensembl chr13:74,976,730...74,987,127
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G |
Ncf2 |
neutrophil cytosolic factor 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:64,955,502...64,986,289
Ensembl chr13:64,955,503...64,986,277
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G |
Nme7 |
NME/NM23 family member 7 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:76,657,303...76,786,768
Ensembl chr13:76,657,367...76,786,765
|
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G |
Nmnat2 |
nicotinamide nucleotide adenylyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:65,105,950...65,277,350
Ensembl chr13:65,105,950...65,278,484
|
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G |
Nphs2 |
NPHS2 stomatin family member, podocin |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
|
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G |
Npl |
N-acetylneuraminate pyruvate lyase |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:65,655,099...65,697,464
Ensembl chr13:65,655,118...65,697,372
|
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G |
Ntmt2 |
N-terminal Xaa-Pro-Lys N-methyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:76,050,683...76,093,972
Ensembl chr13:76,053,127...76,093,972
|
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G |
Pappa2 |
pappalysin 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:70,873,918...71,147,874
Ensembl chr13:70,876,794...71,147,779
|
|
G |
Pigc |
phosphatidylinositol glycan anchor biosynthesis, class C |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:74,343,619...74,346,148
Ensembl chr13:74,296,854...74,346,211
|
|
G |
Prdx6 |
peroxiredoxin 6 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:73,528,746...73,539,295
Ensembl chr13:73,528,210...73,539,355
|
|
G |
Prrc2c |
proline-rich coiled-coil 2C |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:75,003,995...75,073,701
Ensembl chr13:75,004,010...75,073,643
|
|
G |
Prrx1 |
paired related homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:75,600,777...75,671,896
Ensembl chr13:75,601,706...75,670,866
|
|
G |
Qsox1 |
quiescin sulfhydryl oxidase 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:67,949,780...67,987,434
Ensembl chr13:67,949,780...67,987,459
|
|
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 chr13:72,464,114...73,059,845
Ensembl chr13:72,468,110...73,059,984
|
|
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 chr13:68,924,674...69,104,637
Ensembl chr13:68,928,474...69,056,549
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G |
Rasal2 |
RAS protein activator like 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:69,279,882...69,568,647
Ensembl chr13:69,258,622...69,569,940
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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 chr13:73,174,075...73,245,762
Ensembl chr13:73,173,946...73,238,839
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G |
RGD1304622 |
similar to 6820428L09 protein |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:67,388,916...67,427,392
Ensembl chr13:67,389,044...67,421,272
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G |
RGD1309106 |
similar to hypothetical protein |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:74,313,320...74,356,322
Ensembl chr13:74,313,322...74,356,322
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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 chr13:65,887,788...65,891,232
Ensembl chr13:65,887,530...65,892,857
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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 chr13:65,804,703...65,848,953
Ensembl chr13:65,804,797...65,846,807
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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 chr13:65,915,052...65,969,846
Ensembl chr13:65,915,097...65,968,954
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G |
Rnasel |
ribonuclease L |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:65,894,990...65,910,354
Ensembl chr13:65,901,459...65,908,704
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G |
Scyl3 |
SCY1 like pseudokinase 3 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:76,278,428...76,303,038
Ensembl chr13:76,278,428...76,301,716
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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 chr13:69,665,757...69,727,199
Ensembl chr13:69,684,291...69,727,196
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G |
Sele |
selectin E |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:76,402,841...76,412,741
Ensembl chr13:76,403,304...76,412,741
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G |
Sell |
selectin L |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456
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G |
Selp |
selectin P |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:76,476,229...76,511,846
Ensembl chr13:76,476,295...76,511,845
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|
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 chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
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|
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 chr13:65,568,863...65,599,155
Ensembl chr13:65,568,863...65,599,154
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|
G |
Slc19a2 |
solute carrier family 19 member 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:76,601,975...76,616,175
Ensembl chr13:76,601,900...76,616,172
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|
G |
Slc9c2 |
solute carrier family 9, member C2 (putative) |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:73,424,681...73,524,244
Ensembl chr13:73,451,115...73,524,239 Ensembl chr13:73,451,115...73,524,239
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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 chr13:64,986,145...65,050,698
Ensembl chr13:64,987,434...65,050,582
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G |
Soat1 |
sterol O-acyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:68,552,274...68,597,529
Ensembl chr13:68,552,317...68,597,494
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G |
Stx6 |
syntaxin 6 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:67,332,329...67,378,580
Ensembl chr13:67,332,314...67,378,576
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G |
Suco |
SUN domain containing ossification factor |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:74,192,808...74,257,896
Ensembl chr13:74,193,573...74,257,896
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G |
Tdrd5 |
tudor domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:68,394,180...68,447,745
Ensembl chr13:68,394,061...68,441,319
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G |
Teddm1b |
transmembrane epididymal protein 1B |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:65,968,943...66,007,077
Ensembl chr13:66,000,281...66,001,189
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G |
Tex35 |
testis expressed 35 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:69,220,478...69,232,678
Ensembl chr13:69,220,405...69,232,529
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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 chr13:73,833,478...73,907,249
Ensembl chr13:73,831,252...73,843,169
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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 chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788
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G |
Tnn |
tenascin N |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:72,319,160...72,386,362
Ensembl chr13:72,319,155...72,408,156
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G |
Tnr |
tenascin R |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr13:71,751,714...72,172,731
Ensembl chr13:72,091,585...72,167,641
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|
G |
Tor1aip1 |
torsin 1A interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:68,196,681...68,226,121
Ensembl chr13:68,196,681...68,225,862
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|
G |
Tor1aip2 |
torsin 1A interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:68,225,226...68,256,536
Ensembl chr13:68,230,009...68,256,536 Ensembl chr13:68,230,009...68,256,536
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G |
Tor3a |
torsin family 3, member A |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:68,769,893...68,798,738
Ensembl chr13:68,769,605...68,798,475
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G |
Vamp4 |
vesicle-associated membrane protein 4 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr13:74,919,872...74,942,791
Ensembl chr13:74,919,880...74,933,686
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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 chr13:67,441,205...67,585,950
Ensembl chr13:67,446,380...67,585,946
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|
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 chr13:73,271,920...73,303,427
Ensembl chr13:73,280,544...73,337,124
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G |
Zfp648 |
zinc finger protein 648 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr13:66,337,098...66,344,963
Ensembl chr13:66,342,427...66,344,031
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|
G |
Fgf8 |
fibroblast growth factor 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12223415 |
|
NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359
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G |
Six1 |
SIX homeobox 1 |
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ISO |
|
RGD |
PMID:21364285 |
RGD:11561941 |
NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975
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G |
Tbx1 |
T-box transcription factor 1 |
|
ISO |
|
RGD |
PMID:16452092 |
RGD:155663362 |
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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G |
Ankrd28 |
ankyrin repeat domain 28 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr16:6,918,487...7,050,244
Ensembl chr16:6,914,336...7,050,249
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G |
Btd |
biotinidase |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr16:6,863,068...6,894,345
Ensembl chr16:6,862,407...6,940,945
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G |
C4h3orf20 |
similar to human chromosome 3 open reading frame 20 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 4:124,422,033...124,470,657
Ensembl chr 4:124,432,193...124,469,254
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G |
Capn7 |
calpain 7 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr16:6,545,630...6,581,908
Ensembl chr16:6,545,731...6,581,905
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G |
Ccdc174 |
coiled-coil domain containing 174 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 4:124,392,183...124,419,035
Ensembl chr 4:124,392,274...124,419,035
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G |
Chchd4 |
coiled-coil-helix-coiled-coil-helix domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 4:123,968,264...123,977,398
Ensembl chr 4:123,968,265...123,977,414
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G |
Colq |
collagen like tail subunit of asymmetric acetylcholinesterase |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr16:6,731,850...6,824,973
Ensembl chr16:6,731,858...6,787,107
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G |
Dazl |
deleted in azoospermia-like |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:10,695,572...10,712,443
Ensembl chr 9:10,695,592...10,712,323
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G |
Dph3 |
diphthamide biosynthesis 3 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr16:7,288,295...7,293,734
Ensembl chr16:7,282,705...7,291,265
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G |
Eaf1 |
ELL associated factor 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr16:6,698,322...6,713,071
Ensembl chr16:6,698,322...6,713,071
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G |
Efhb |
EF hand domain family, member B |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:6,372,191...6,441,678
Ensembl chr 9:6,372,194...6,441,919
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G |
Fbln2 |
fibulin 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 4:123,704,289...123,763,857
Ensembl chr 4:123,704,373...123,763,948
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G |
Fgd5 |
FYVE, RhoGEF and PH domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 4:124,497,061...124,594,564
Ensembl chr 4:124,497,068...124,594,563
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G |
Galnt15 |
polypeptide N-acetylgalactosaminyltransferase 15 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr16:7,227,232...7,267,002
Ensembl chr16:7,227,271...7,267,014
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G |
Grip2 |
glutamate receptor interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 4:124,271,456...124,356,538
Ensembl chr 4:124,271,456...124,321,268
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G |
Hacl1 |
2-hydroxyacyl-CoA lyase 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr16:6,826,881...6,863,027
Ensembl chr16:6,824,906...6,863,027
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G |
Hdac11 |
histone deacetylase 11 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 4:123,645,873...123,667,407
Ensembl chr 4:123,650,157...123,667,405
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G |
Kat2b |
lysine acetyltransferase 2B |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:6,562,525...6,667,064
Ensembl chr 9:6,562,288...6,667,064
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G |
Kcnh8 |
potassium voltage-gated channel subfamily H member 8 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:5,506,044...5,945,828
Ensembl chr 9:5,506,044...5,945,828
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G |
Lsm3 |
LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 4:124,021,023...124,027,269
Ensembl chr 4:124,021,023...124,027,269
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G |
Mettl6 |
methyltransferase 6, methylcytidine |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr16:6,683,820...6,699,013
Ensembl chr16:6,583,465...6,698,975
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G |
Mrps25 |
mitochondrial ribosomal protein S25 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 4:124,668,320...124,680,086
Ensembl chr 4:124,668,094...124,680,057
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G |
Nr2c2 |
nuclear receptor subfamily 2, group C, member 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 4:124,610,216...124,666,813
Ensembl chr 4:124,608,960...124,661,902
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G |
Nup210 |
nucleoporin 210 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 4:123,511,559...123,609,874
Ensembl chr 4:123,511,559...123,609,874
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G |
Oxnad1 |
oxidoreductase NAD-binding domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr16:7,293,470...7,322,540
Ensembl chr16:7,293,470...7,322,540
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G |
Plcl2 |
phospholipase C-like 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:3,292,564...3,477,009
Ensembl chr 9:3,292,695...3,477,009
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G |
Pp2d1 |
protein phosphatase 2C-like domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:6,512,282...6,533,653
Ensembl chr 9:6,512,657...6,533,639
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G |
Rab5a |
RAB5A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:6,483,906...6,512,877
Ensembl chr 9:6,484,469...6,512,873
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G |
Rbsn |
rabenosyn, RAB effector |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 4:124,682,228...124,712,578
Ensembl chr 4:124,683,969...124,712,578
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G |
Rftn1 |
raftlin lipid raft linker 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:10,804,611...11,002,084
Ensembl chr 9:10,804,611...11,002,084
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G |
Satb1 |
SATB homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251
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G |
Setd5 |
SET domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:21681106 |
|
NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894
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|
G |
Sh3bp5 |
SH3-domain binding protein 5 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr16:6,583,462...6,678,344
Ensembl chr16:6,583,465...6,698,975
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G |
Slc6a6 |
solute carrier family 6 member 6 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 4:124,195,186...124,268,880
Ensembl chr 4:124,195,218...124,268,875
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G |
Tbc1d5 |
TBC1 domain family, member 5 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:3,503,328...4,017,131
Ensembl chr 9:3,513,623...4,016,913
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G |
Thumpd3 |
THUMP domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:21681106 |
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NCBI chr 4:146,185,422...146,209,802
Ensembl chr 4:146,185,503...146,211,246
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G |
Tmem43 |
transmembrane protein 43 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825
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G |
Wnt7a |
Wnt family member 7A |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981
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G |
Xpc |
XPC complex subunit, DNA damage recognition and repair factor |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 4:123,993,670...124,020,922
Ensembl chr 4:123,993,666...124,021,010
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G |
Sox9 |
SRY-box transcription factor 9 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 10 |
OMIM ClinVar |
PMID:567843 PMID:6620326 PMID:22051515 PMID:25604083 |
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NCBI chr10:97,806,485...97,811,994
Ensembl chr10:97,806,485...97,811,994
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G |
Dmrt1 |
doublesex and mab-3 related transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 4 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:223,142,859...223,241,333
Ensembl chr 1:223,142,859...223,241,333
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G |
Col4a6 |
collagen type IV alpha 6 chain |
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ISO |
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OMIM |
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NCBI chr X:104,766,463...105,117,499
Ensembl chr X:104,766,957...105,117,500
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G |
Zbtb18 |
zinc finger and BTB domain containing 18 |
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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 PMID:28283832 PMID:28492532 PMID:29573576 More...
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NCBI chr13:89,439,633...89,447,958
Ensembl chr13:89,439,420...89,448,862
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G |
Bmpr1a |
bone morphogenetic protein receptor type 1A |
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ISS |
OMIM:612242 |
MouseDO |
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NCBI chr16:9,736,390...9,829,825
Ensembl chr16:9,736,630...9,780,616
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G |
Aasdhppt |
aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 8:1,453,226...1,463,990
Ensembl chr 8:1,452,282...1,463,966
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G |
Abcg4 |
ATP binding cassette subfamily G member 4 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 8:44,611,187...44,629,818
Ensembl chr 8:44,611,187...44,626,881
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G |
Acad8 |
acyl-CoA dehydrogenase family, member 8 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 8:25,382,271...25,406,429
Ensembl chr 8:25,382,273...25,406,414
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G |
Acat1 |
acetyl-CoA acetyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 8:53,979,813...54,008,861
Ensembl chr 8:53,979,813...54,008,855
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G |
Acrv1 |
acrosomal vesicle protein 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 8:36,404,394...36,409,971
Ensembl chr 8:36,404,394...36,424,959
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G |
Adamts15 |
ADAM metallopeptidase with thrombospondin type 1 motif, 15 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 8:29,307,864...29,331,249
Ensembl chr 8:29,307,865...29,331,249
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G |
Adamts8 |
ADAM metallopeptidase with thrombospondin type 1 motif, 8 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 8:29,349,078...29,368,413
Ensembl chr 8:29,349,114...29,368,404
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G |
Alg9 |
ALG9, alpha-1,2-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
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G |
Alkbh8 |
alkB homolog 8, tRNA methyltransferase |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 6:378,779...449,382
Ensembl chr 6:378,100...452,165
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G |
Ankk1 |
ankyrin repeat and kinase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 8:49,779,862...49,788,024
Ensembl chr 8:49,779,862...49,788,024
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G |
Aplp2 |
amyloid beta precursor like protein 2 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 8:29,599,230...29,662,311
Ensembl chr 8:29,599,230...29,661,855
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G |
Apoa1 |
apolipoprotein A1 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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G |
Apoa4 |
apolipoprotein A4 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
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G |
Apoa5 |
apolipoprotein A5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 8:46,561,180...46,563,818
Ensembl chr 8:46,561,229...46,563,816
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G |
Apoc3 |
apolipoprotein C3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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G |
Arcn1 |
archain 1 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247
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G |
Arhgap20 |
Rho GTPase activating protein 20 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 8:52,074,472...52,155,739
Ensembl chr 8:52,074,158...52,155,739
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G |
Arhgap32 |
Rho GTPase activating protein 32 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 8:30,421,269...30,681,653
Ensembl chr 8:30,421,515...30,678,454
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G |
Arhgef12 |
Rho guanine nucleotide exchange factor 12 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:43,350,070...43,475,404
Ensembl chr 8:43,353,799...43,476,366
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G |
Atm |
ATM serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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G |
Atp5mg |
ATP synthase membrane subunit g |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 8:45,226,750...45,233,582
Ensembl chr 8:45,225,686...45,233,559
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G |
B3gat1 |
beta-1,3-glucuronyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:25,087,123...25,114,692
Ensembl chr 8:25,087,547...25,113,395
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G |
Bace1 |
beta-secretase 1 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876
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G |
Barx2 |
BARX homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 8:30,251,132...30,319,105
Ensembl chr 8:30,251,132...30,319,013
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G |
Bcl9l |
BCL9 like |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611
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G |
Bco2 |
beta-carotene oxygenase 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 8:50,882,174...50,907,676
Ensembl chr 8:50,882,181...50,915,467
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G |
Bsx |
brain specific homeobox |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:41,254,105...41,257,861
Ensembl chr 8:41,254,105...41,257,861
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G |
Btg4 |
BTG anti-proliferation factor 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,410,774...51,425,802
Ensembl chr 8:51,422,061...51,425,796
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G |
Bud13 |
BUD13 homolog |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:46,575,124...46,590,964
Ensembl chr 8:46,575,115...46,590,958
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G |
C1qtnf5 |
C1q and TNF related 5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074
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G |
C2cd2l |
C2CD2-like |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,648,074...44,658,856
Ensembl chr 8:44,648,079...44,658,340
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G |
C8h11orf52 |
similar to human chromosome 11 open reading frame 52 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,081,342...51,088,333
Ensembl chr 8:51,081,342...51,094,533
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G |
C8h11orf65 |
similar to human chromosome 11 open reading frame 65 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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G |
C8h11orf71 |
similar to human chromosome 11 open reading frame 71 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:48,838,556...48,838,970
Ensembl chr 8:48,838,100...48,842,270
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G |
Cadm1 |
cell adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:47,847,836...48,178,703
Ensembl chr 8:47,847,325...48,182,833
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G |
Casp1 |
caspase 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:2,587,812...2,597,403
Ensembl chr 8:2,587,831...2,597,383
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G |
Casp12 |
caspase 12 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:2,642,296...2,669,549
Ensembl chr 8:2,642,434...2,674,037
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G |
Casp4 |
caspase 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:2,599,017...2,635,097
Ensembl chr 8:2,598,876...2,635,092
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G |
Cbl |
Cbl proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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G |
Ccdc15 |
coiled-coil domain containing 15 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:36,991,147...37,068,849
Ensembl chr 8:36,998,867...37,068,919
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G |
Ccdc153 |
coiled-coil domain containing 153 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,576,528...44,584,345
Ensembl chr 8:44,577,836...44,584,338
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G |
Cd3d |
CD3 delta subunit of T-cell receptor complex |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809
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G |
Cd3e |
CD3 epsilon subunit of T-cell receptor complex |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,303,848...45,315,297
Ensembl chr 8:45,303,852...45,315,022
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G |
Cd3g |
CD3 gamma subunit of T-cell receptor complex |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,280,797...45,287,271
Ensembl chr 8:45,281,204...45,287,147
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G |
Cdon |
cell adhesion associated, oncogene regulated |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:33,775,123...33,861,635
Ensembl chr 8:33,806,183...33,859,033
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G |
Cenatac |
centrosomal AT-AC splicing factor |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,735,968...44,742,859
Ensembl chr 8:44,735,972...44,742,837
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G |
Cep164 |
centrosomal protein 164 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:46,070,901...46,134,511
Ensembl chr 8:46,071,076...46,134,336
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G |
Cfap68 |
cilia and flagella associated protein 68 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,107,663...51,113,192
Ensembl chr 8:51,107,721...51,113,420
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G |
Chek1 |
checkpoint kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:36,420,565...36,443,477
Ensembl chr 8:36,420,569...36,441,009
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G |
Cldn25 |
claudin 25 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:49,391,975...49,392,664
Ensembl chr 8:49,391,975...49,392,664
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G |
Clmp |
CXADR-like membrane protein |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:41,060,527...41,168,841
Ensembl chr 8:41,060,799...41,168,838
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G |
Crtam |
cytotoxic and regulatory T cell molecule |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:41,340,117...41,377,343
Ensembl chr 8:41,340,837...41,377,343
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G |
Cryab |
crystallin, alpha B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
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G |
Cul5 |
cullin 5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:54,012,963...54,066,751
Ensembl chr 8:54,016,006...54,066,666
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G |
Cwf19l2 |
CWF19 like cell cycle control factor 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:290,148...356,636
Ensembl chr 6:281,685...356,604
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|
G |
Cxcr5 |
C-X-C motif chemokine receptor 5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,842,098...44,858,425
Ensembl chr 8:44,843,413...44,857,893
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G |
Dcps |
decapping enzyme, scavenger |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:33,468,669...33,524,407
Ensembl chr 8:33,415,671...33,524,389
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G |
Ddx10 |
DEAD-box helicase 10 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:53,488,656...53,643,373
Ensembl chr 8:53,488,656...53,643,373
|
|
G |
Ddx25 |
DEAD-box helicase 25 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:33,894,224...33,910,377
Ensembl chr 8:33,894,232...33,921,764
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|
G |
Ddx6 |
DEAD-box helicase 6 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405
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G |
Dixdc1 |
DIX domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,007,835...51,081,191
Ensembl chr 8:51,007,838...51,081,090
|
|
G |
Dlat |
dihydrolipoamide S-acetyltransferase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
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|
G |
Dpagt1 |
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087
|
|
G |
Drd2 |
dopamine receptor D2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:49,708,903...49,772,888
Ensembl chr 8:49,708,927...49,772,875
|
|
G |
Dscaml1 |
DS cell adhesion molecule-like 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,740,298...46,057,322
Ensembl chr 8:45,740,298...46,057,320
|
|
G |
Ei24 |
EI24, autophagy associated transmembrane protein |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:36,494,289...36,510,653
Ensembl chr 8:36,494,289...36,510,571
|
|
G |
Elmod1 |
ELMO domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:54,298,363...54,355,348
Ensembl chr 8:54,298,363...54,355,140
|
|
G |
Esam |
endothelial cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,238,228...37,249,217
Ensembl chr 8:37,238,287...37,249,215
|
|
G |
Ets1 |
ETS proto-oncogene 1, transcription factor |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:31,045,909...31,168,010
Ensembl chr 8:31,045,945...31,168,010
|
|
G |
Exph5 |
exophilin 5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:53,698,825...53,775,371
Ensembl chr 8:53,698,852...53,773,169
|
|
G |
Fam118b |
family with sequence similarity 118, member B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:33,566,681...33,617,310
Ensembl chr 8:33,566,669...33,617,270
|
|
G |
Fdx1 |
ferredoxin 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:52,268,536...52,287,344
Ensembl chr 8:52,268,536...52,287,414
|
|
G |
Fdxacb1 |
ferredoxin-fold anticodon binding domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,111,831...51,118,253
Ensembl chr 8:51,113,397...51,118,308
|
|
G |
Fez1 |
fasciculation and elongation protein zeta 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:36,544,462...36,589,684
Ensembl chr 8:36,544,535...36,589,683
|
|
G |
Fli1 |
Fli-1 proto-oncogene, ETS transcription factor |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
|
|
G |
Foxr1 |
forkhead box R1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880
|
|
G |
Foxred1 |
FAD-dependent oxidoreductase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:33,551,010...33,560,227
Ensembl chr 8:33,551,013...33,560,192
|
|
G |
Fxyd2 |
FXYD domain-containing ion transport regulator 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,712,887...45,720,032
Ensembl chr 8:45,712,903...45,720,203
|
|
G |
Fxyd6 |
FXYD domain-containing ion transport regulator 6 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,679,054...45,705,958
Ensembl chr 8:45,678,885...45,705,958
|
|
G |
Glb1l2 |
galactosidase, beta 1-like 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:25,115,462...25,166,843
Ensembl chr 8:25,115,462...25,166,783
|
|
G |
Glb1l3 |
galactosidase, beta 1-like 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:25,179,165...25,220,904
Ensembl chr 8:25,179,165...25,220,904
|
|
G |
Gramd1b |
GRAM domain containing 1B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:40,654,492...40,893,869
Ensembl chr 8:40,659,182...40,893,925
|
|
G |
Gria4 |
glutamate ionotropic receptor AMPA type subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:1,562,118...2,035,035
Ensembl chr 8:1,562,119...2,034,979
|
|
G |
Grik4 |
glutamate ionotropic receptor kainate type subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:42,903,043...43,331,990
Ensembl chr 8:42,905,056...43,193,751
|
|
G |
Gucy1a2 |
guanylate cyclase 1 soluble subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:500,212...900,201
Ensembl chr 8:500,212...889,203
|
|
G |
H2ax |
H2A.X variant histone |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,671,927...44,673,257
Ensembl chr 8:44,671,786...44,673,239
|
|
G |
Hepacam |
hepatic and glial cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,087,864...37,106,759
Ensembl chr 8:37,087,857...37,105,920
|
|
G |
Hinfp |
histone H4 transcription factor |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,634,333...44,644,288
Ensembl chr 8:44,634,333...44,641,000
|
|
G |
Hmbs |
hydroxymethylbilane synthase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
|
|
G |
Hoatz |
HOATZ cilia and flagella associated protein |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,385,931...51,409,796
Ensembl chr 8:51,388,382...51,412,514
|
|
G |
Hspa8 |
heat shock protein family A (Hsp70) member 8 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259
|
|
G |
Hspb2 |
heat shock protein family B (small) member 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,093,267...51,094,864
Ensembl chr 8:51,081,342...51,094,533
|
|
G |
Htr3a |
5-hydroxytryptamine receptor 3A |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:49,242,018...49,254,475
Ensembl chr 8:49,242,020...49,254,389
|
|
G |
Htr3b |
5-hydroxytryptamine receptor 3B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:49,279,291...49,308,444
Ensembl chr 8:49,279,173...49,308,444
|
|
G |
Hyls1 |
HYLS1, centriolar and ciliogenesis associated |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:33,913,016...33,922,125
Ensembl chr 8:33,912,692...33,921,760
|
|
G |
Hyou1 |
hypoxia up-regulated 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
|
|
G |
Ift46 |
intraflagellar transport 46 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052
|
|
G |
Igsf9b |
immunoglobulin superfamily, member 9B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:25,712,644...25,769,481
Ensembl chr 8:25,712,644...25,758,554
|
|
G |
Il10ra |
interleukin 10 receptor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,563,009...45,578,041
Ensembl chr 8:45,563,137...45,578,061
|
|
G |
Il18 |
interleukin 18 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
|
|
G |
Jam3 |
junctional adhesion molecule 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:25,508,461...25,569,306
Ensembl chr 8:25,507,057...25,569,355
|
|
G |
Jaml |
junction adhesion molecule like |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565
|
|
G |
Jhy |
junctional cadherin complex regulator |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:41,276,501...41,333,383
Ensembl chr 8:41,276,491...41,333,514
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|
G |
Kbtbd3 |
kelch repeat and BTB domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:1,464,162...1,491,144
Ensembl chr 8:1,473,247...1,487,943
|
|
G |
Kcnj1 |
potassium inwardly-rectifying channel, subfamily J, member 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:30,779,883...30,808,607
Ensembl chr 8:30,753,617...30,813,796
|
|
G |
Kcnj5 |
potassium inwardly-rectifying channel, subfamily J, member 5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518
|
|
G |
Kirrel3 |
kirre like nephrin family adhesion molecule 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:32,865,779...33,407,555
Ensembl chr 8:32,862,776...33,405,676
|
|
G |
Kmt2a |
lysine methyltransferase 2A |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181
|
|
G |
Layn |
layilin |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,363,928...51,384,748
Ensembl chr 8:51,367,091...51,384,330
|
|
G |
LOC100125362 |
hypothetical protein LOC100125362 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:53,062,361...53,069,882
Ensembl chr 8:53,062,360...53,069,538
|
|
G |
LOC103689958 |
olfactory receptor 49-like |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:65,911,907...65,913,255
Ensembl chr 1:65,912,105...65,913,079
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|
G |
Mcam |
melanoma cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571
|
|
G |
Mfrp |
membrane frizzled-related protein |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859
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|
G |
Mir100 |
microRNA 100 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:41,901,225...41,901,304
Ensembl chr 8:41,901,225...41,901,304
|
|
G |
Mir125b1 |
microRNA 125b-1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:41,952,966...41,953,052
Ensembl chr 8:41,952,966...41,953,052
|
|
G |
Mir34b |
microRNA 34b |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327
|
|
G |
Mir34c |
microRNA 34c |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802
|
|
G |
Mpzl2 |
myelin protein zero-like 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298
|
|
G |
Mpzl3 |
myelin protein zero-like 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662
|
|
G |
Msantd2 |
Myb/SANT DNA binding domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,200,890...37,234,691
Ensembl chr 8:37,200,260...37,234,476
|
|
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 8:1,516,979...1,527,587
Ensembl chr 8:1,516,979...1,527,587
|
|
G |
Ncam1 |
neural cell adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
|
|
G |
Ncapd3 |
non-SMC condensin II complex, subunit D3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:25,437,067...25,506,375
Ensembl chr 8:25,437,123...25,506,373
|
|
G |
Nectin1 |
nectin cell adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787
|
|
G |
Nfrkb |
nuclear factor related to kappa B binding protein |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:29,831,802...29,863,360
Ensembl chr 8:29,831,812...29,863,359
|
|
G |
Nherf4 |
NHERF family PDZ scaffold protein 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,584,390...44,588,838
Ensembl chr 8:44,584,390...44,588,860
|
|
G |
Nkapd1 |
NKAP domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:50,955,650...50,966,915
Ensembl chr 8:50,955,654...50,966,830
|
|
G |
Nlrx1 |
NLR family member X1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,588,476...44,606,678
Ensembl chr 8:44,590,048...44,606,484
|
|
G |
Nnmt |
nicotinamide N-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:48,928,663...48,947,734
Ensembl chr 8:48,933,598...48,946,655
|
|
G |
Npat |
nuclear protein, co-activator of histone transcription |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:53,932,993...53,970,875
Ensembl chr 8:53,932,993...53,970,875
|
|
G |
Nrgn |
neurogranin |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,255,462...37,263,659
Ensembl chr 8:37,256,930...37,257,516
|
|
G |
Ntm |
neurotrimin |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:27,376,582...28,366,604
Ensembl chr 8:27,377,773...28,366,595
|
|
G |
Nxpe1 |
neurexophilin and PC-esterase domain family, member 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:48,749,250...48,773,762
Ensembl chr 8:48,751,014...48,785,353
|
|
G |
Nxpe2 |
neurexophilin and PC-esterase domain family, member 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:48,661,708...48,695,555
Ensembl chr 8:48,661,708...48,698,035
|
|
G |
Nxpe4 |
neurexophilin and PC-esterase domain family member 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:48,502,697...48,744,101
Ensembl chr 8:48,722,440...48,744,100
|
|
G |
Oaf |
out at first homolog |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:43,594,362...43,612,334
Ensembl chr 8:43,594,363...43,612,334
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|
G |
Olr1271 |
olfactory receptor 1271 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:39,127,409...39,131,889
Ensembl chr 8:39,127,352...39,131,900
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G |
Opcml |
opioid binding protein/cell adhesion molecule-like |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:26,788,988...27,304,551
Ensembl chr 8:26,192,841...27,300,620
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G |
Or10g9 |
olfactory receptor family 10 subfamily G member 9 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:40,352,436...40,353,371
Ensembl chr 8:40,352,436...40,353,371
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G |
Or10g9b |
olfactory receptor family 10 subfamily G member 9B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:40,358,211...40,359,143
Ensembl chr 8:40,357,714...40,361,692
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G |
Or10s1 |
olfactory receptor family 10 subfamily S member 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:40,377,018...40,378,068
Ensembl chr 8:40,377,103...40,378,068
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G |
Or4d5 |
olfactory receptor family 4 subfamily D member 5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:40,423,865...40,424,809
Ensembl chr 8:40,423,865...40,424,809
|
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G |
Or6x1 |
olfactory receptor family 6 subfamily X member 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:40,538,157...40,539,095
Ensembl chr 8:40,533,033...40,541,586
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G |
Or8a1b |
olfactory receptor family 8 subfamily A member 1B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,434,903...37,435,832
Ensembl chr 8:37,434,551...37,439,746
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G |
Or8b12 |
olfactory receptor family 8 subfamily B member 12 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,479,706...37,480,638
Ensembl chr 8:37,478,794...37,481,315
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G |
Or8b3 |
olfactory receptor family 8 subfamily B member 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:38,521,915...38,522,856
Ensembl chr 8:38,520,758...38,522,936
|
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G |
Or8b4 |
olfactory receptor family 8 subfamily B member 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,720,158...37,721,087
|
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G |
Or8b8 |
olfactory receptor family 8 subfamily B member 8 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,693,578...37,694,510
Ensembl chr 8:37,693,499...37,694,547
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G |
Or8d4 |
olfactory receptor family 8 subfamily D member 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:40,469,997...40,470,932
Ensembl chr 8:40,469,997...40,470,932
|
|
G |
Or8g30 |
olfactory receptor family 8 subfamily G member 30 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:39,613,311...39,614,246
Ensembl chr 8:39,613,126...39,618,924
|
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G |
Pafah1b2 |
platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:46,260,069...46,312,073
Ensembl chr 8:46,261,064...46,279,833
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G |
Panx3 |
pannexin 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,366,758...37,377,640
Ensembl chr 8:37,366,862...37,377,640
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G |
Pate1 |
prostate and testis expressed 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:34,048,617...34,050,848
Ensembl chr 8:34,048,617...34,050,848
|
|
G |
Pate2 |
prostate and testis expressed 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:34,019,123...34,026,850
Ensembl chr 8:34,024,114...34,050,517
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G |
Pate3 |
prostate and testis expressed 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:34,014,164...34,016,175
Ensembl chr 8:34,014,164...34,016,175
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|
G |
Pate4 |
prostate and testis expressed 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:33,988,812...33,991,552
Ensembl chr 8:33,988,812...33,991,552
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G |
Pcsk7 |
proprotein convertase subtilisin/kexin type 7 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:46,202,079...46,224,699
Ensembl chr 8:46,202,131...46,224,705
|
|
G |
Phldb1 |
pleckstrin homology-like domain, family B, member 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,003,538...45,051,541
Ensembl chr 8:45,003,538...45,051,522
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G |
Pih1d2 |
PIH1 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:50,966,885...50,976,901
Ensembl chr 8:50,966,885...50,975,656
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G |
Pknox2 |
PBX/knotted 1 homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:36,600,633...36,863,131
Ensembl chr 8:36,600,636...36,790,940
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G |
Plet1 |
placenta expressed transcript 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:50,842,210...50,854,015
Ensembl chr 8:50,841,854...50,853,659
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G |
Poglut3 |
protein O-glucosyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:53,777,614...53,795,404
Ensembl chr 8:53,777,785...53,795,399
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G |
Pou2af1 |
POU class 2 homeobox associating factor 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,521,813...51,548,819
Ensembl chr 8:51,474,015...51,548,819
|
|
G |
Pou2af2 |
POU class 2 homeobox associating factor 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,607,780...51,648,790
Ensembl chr 8:51,607,763...51,648,628
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|
G |
Pou2af3 |
POU class 2 homeobox associating factor 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,588,237...51,597,114
Ensembl chr 8:51,588,237...51,603,855
|
|
G |
Pou2f3 |
POU class 2 homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:43,495,408...43,577,795
Ensembl chr 8:43,495,527...43,577,795
|
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G |
Ppp2r1b |
protein phosphatase 2 scaffold subunit A beta |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,195,860...51,228,442
Ensembl chr 8:51,186,717...51,228,485
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|
G |
Prdm10 |
PR/SET domain 10 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:29,724,011...29,827,757
Ensembl chr 8:29,724,245...29,826,080
|
|
G |
Pts |
6-pyruvoyl-tetrahydropterin synthase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:50,870,838...50,877,878
Ensembl chr 8:50,870,841...50,877,869
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G |
Pus3 |
pseudouridine synthase 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:33,910,461...33,918,716
Ensembl chr 8:33,911,357...33,918,714
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G |
Rab39a |
RAB39A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:54,088,744...54,105,756
Ensembl chr 8:54,088,129...54,106,483
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G |
Rbm7 |
RNA binding motif protein 7 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:48,831,894...48,838,399
Ensembl chr 8:48,831,894...48,838,411
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G |
Rdx |
radixin |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678
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G |
Rexo2 |
RNA exonuclease 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:48,811,900...48,823,622
Ensembl chr 8:48,811,900...48,823,622
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G |
Rnf214 |
ring finger protein 214 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:46,166,269...46,202,048
Ensembl chr 8:46,166,598...46,201,576
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G |
Rnf26 |
ring finger protein 26 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,454,551...44,456,745
Ensembl chr 8:44,454,292...44,457,331
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G |
Robo3 |
roundabout guidance receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,133,542...37,151,674
Ensembl chr 8:37,133,916...37,151,315
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G |
Robo4 |
roundabout guidance receptor 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,119,966...37,133,887
Ensembl chr 8:37,119,988...37,132,519
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G |
Rps25 |
ribosomal protein s25 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271
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G |
Rpusd4 |
RNA pseudouridine synthase D4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:33,617,384...33,626,873
Ensembl chr 8:33,617,379...33,626,873
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G |
Sc5d |
sterol-C5-desaturase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273
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G |
Scn2b |
sodium voltage-gated channel beta subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765
|
|
G |
Scn3b |
sodium voltage-gated channel beta subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:40,630,372...40,652,869
Ensembl chr 8:40,630,455...40,652,868
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G |
Scn4b |
sodium voltage-gated channel beta subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292
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G |
Sdhd |
succinate dehydrogenase complex subunit D |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:50,944,717...50,954,298
Ensembl chr 8:50,944,704...50,954,238
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G |
Siae |
sialic acid acetylesterase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,318,724...37,354,004
Ensembl chr 8:37,318,747...37,353,996
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G |
Sidt2 |
SID1 transmembrane family, member 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:46,232,379...46,248,913
Ensembl chr 8:46,232,383...46,248,700
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G |
Sik2 |
salt-inducible kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:51,225,543...51,325,343
Ensembl chr 8:51,225,543...51,325,415
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G |
Sik3 |
SIK family kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:46,312,253...46,522,444
Ensembl chr 8:46,311,989...46,522,444
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G |
Slc35f2 |
solute carrier family 35, member F2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:54,159,970...54,203,614
Ensembl chr 8:54,159,970...54,203,612
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G |
Slc37a2 |
solute carrier family 37 member 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:36,945,787...36,971,748
Ensembl chr 8:36,946,930...36,971,482
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G |
Slc37a4 |
solute carrier family 37 member 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301
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G |
Sln |
sarcolipin |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:54,221,389...54,248,110
Ensembl chr 8:54,243,542...54,247,791
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G |
Snx19 |
sorting nexin 19 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:28,829,881...28,867,600
Ensembl chr 8:28,829,886...28,867,061
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G |
Sorl1 |
sortilin related receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:42,341,704...42,504,435
Ensembl chr 8:42,341,704...42,504,513
|
|
G |
Spa17 |
sperm autoantigenic protein 17 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,307,432...37,318,645
Ensembl chr 8:37,307,557...37,318,639
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|
G |
Spata19 |
spermatogenesis associated 19 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:25,814,922...25,820,663
Ensembl chr 8:25,814,905...25,820,670
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G |
Srpra |
SRP receptor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:33,560,365...33,566,458
Ensembl chr 8:33,560,348...33,566,470
|
|
G |
St14 |
ST14 transmembrane serine protease matriptase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
|
|
G |
St3gal4 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:33,415,666...33,465,365
Ensembl chr 8:33,415,671...33,524,389
|
|
G |
Stt3a |
STT3 oligosaccharyltransferase complex catalytic subunit A |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:36,443,623...36,483,111
Ensembl chr 8:36,446,788...36,483,293
|
|
G |
Tagln |
transgelin |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668
|
|
G |
Tbcel |
tubulin folding cofactor E-like |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:42,795,648...42,854,552
Ensembl chr 8:42,796,730...42,854,552
|
|
G |
Tbrg1 |
transforming growth factor beta regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,355,274...37,362,933
Ensembl chr 8:37,354,658...37,362,930
|
|
G |
Tecta |
tectorin alpha |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
|
|
G |
Tex12 |
testis expressed 12 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:50,908,161...50,913,205
Ensembl chr 8:50,909,052...50,913,217
|
|
G |
Thy1 |
Thy-1 cell surface antigen |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,389,495...44,394,688
Ensembl chr 8:44,389,513...44,394,659
|
|
G |
Thyn1 |
thymocyte nuclear protein 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:25,406,563...25,415,444
Ensembl chr 8:25,406,500...25,415,445
|
|
G |
Timm8b |
translocase of inner mitochondrial membrane 8 homolog B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:50,954,350...50,955,730
Ensembl chr 8:50,954,342...50,955,729
|
|
G |
Tirap |
TIR domain containing adaptor protein |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:33,531,724...33,548,508
Ensembl chr 8:33,531,725...33,547,432
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G |
Tlcd5 |
TLC domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:43,481,388...43,486,288
Ensembl chr 8:43,479,016...43,486,290
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G |
Tmem218 |
transmembrane protein 218 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
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G |
Tmem225 |
transmembrane protein 225 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:40,497,483...40,500,041
Ensembl chr 8:40,497,483...40,500,041
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G |
Tmem25 |
transmembrane protein 25 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389
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G |
Tmem45b |
transmembrane protein 45b |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:29,865,276...29,910,453
Ensembl chr 8:29,865,278...29,910,453
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G |
Tmprss13 |
transmembrane serine protease 13 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,625,759...45,653,943
Ensembl chr 8:45,625,626...45,653,938
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G |
Tmprss4 |
transmembrane serine protease 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,475,819...45,508,409
Ensembl chr 8:45,476,053...45,508,409
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G |
Tmprss5 |
transmembrane serine protease 5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:49,437,321...49,461,395
Ensembl chr 8:49,441,984...49,460,071
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G |
Trappc4 |
trafficking protein particle complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491
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G |
Treh |
trehalase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540
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G |
Trim29 |
tripartite motif-containing 29 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:43,682,221...43,706,992
Ensembl chr 8:43,682,221...43,706,992
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G |
Ttc12 |
tetratricopeptide repeat domain 12 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:49,799,916...49,847,940
Ensembl chr 8:49,799,920...49,847,087
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G |
Ttc36 |
tetratricopeptide repeat domain 36 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,112,737...45,116,345
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G |
Ubash3b |
ubiquitin associated and SH3 domain containing, B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:41,385,419...41,532,248
Ensembl chr 8:41,388,341...41,532,201
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G |
Ube4a |
ubiquitination factor E4A |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038
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G |
Upk2 |
uroplakin 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190
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G |
Usp2 |
ubiquitin specific peptidase 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,411,457...44,439,668
Ensembl chr 8:44,411,607...44,438,331
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G |
Usp28 |
ubiquitin specific peptidase 28 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:49,325,766...49,386,229
Ensembl chr 8:49,325,867...49,386,229
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G |
Vps11 |
VPS11 core subunit of CORVET and HOPS complexes |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:44,683,768...44,698,572
Ensembl chr 8:44,684,127...44,698,568
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G |
Vps26b |
VPS26 retromer complex component B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:25,415,877...25,436,985
Ensembl chr 8:25,415,261...25,436,985
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G |
Vsig2 |
V-set and immunoglobulin domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:37,250,107...37,255,150
Ensembl chr 8:37,250,107...37,255,150
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G |
Vwa5a |
von Willebrand factor A domain containing 5A |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:38,815,176...38,848,674
Ensembl chr 8:38,815,210...38,839,112
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G |
Zbtb16 |
zinc finger and BTB domain containing 16 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:48,989,376...49,177,011
Ensembl chr 8:48,994,566...49,177,011
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G |
Zbtb44 |
zinc finger and BTB domain containing 44 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:29,466,055...29,524,027
Ensembl chr 8:29,466,352...29,518,163
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G |
Zc3h12c |
zinc finger CCCH type containing 12C |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:52,443,791...52,508,643
Ensembl chr 8:52,448,320...52,504,315
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G |
Zfp202 |
zinc finger protein 202 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:40,542,665...40,567,397
Ensembl chr 8:40,542,701...40,563,118
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G |
Zpr1 |
ZPR1 zinc finger |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:46,564,898...46,574,719
Ensembl chr 8:46,565,146...46,574,719
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G |
Zw10 |
zw10 kinetochore protein |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:49,396,541...49,424,743
Ensembl chr 8:49,396,545...49,421,805
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G |
Elp4 |
elongator acetyltransferase complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: 11p deletion syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
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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 PMID:25741868 PMID:26604670 PMID:28492532 More...
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NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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G |
Acod1 |
aconitate decarboxylase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:79,871,819...79,881,101
Ensembl chr15:79,871,827...79,880,529
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G |
Alg11 |
ALG11, alpha-1,2-mannosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601
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G |
Arl11 |
ADP-ribosylation factor like GTPase 11 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
|
NCBI chr15:35,483,330...35,485,579
Ensembl chr15:35,480,018...35,496,596
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G |
Atp7b |
ATPase copper transporting beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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G |
Bora |
bora, aurora kinase A activator |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:75,797,624...75,835,599
Ensembl chr15:75,797,891...75,821,322
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G |
Cab39l |
calcium binding protein 39-like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:33,606,588...33,710,518
Ensembl chr15:33,606,694...33,743,545
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G |
Ccdc70 |
coiled-coil domain containing 70 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr16:70,037,309...70,042,401
Ensembl chr16:70,037,309...70,042,339
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G |
Cdadc1 |
cytidine and dCMP deaminase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:33,726,590...33,755,611
Ensembl chr15:33,723,435...33,755,576
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G |
Ckap2 |
cytoskeleton associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr16:69,839,668...69,864,852
Ensembl chr16:69,839,630...69,864,913
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G |
Cln5 |
CLN5, intracellular trafficking protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:79,893,573...79,903,438
Ensembl chr15:79,893,548...79,903,438
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G |
Cnmd |
chondromodulin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:55,041,548...55,066,297
Ensembl chr15:55,041,561...55,066,297
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G |
Commd6 |
COMM domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:78,467,333...78,474,382
Ensembl chr15:78,467,804...78,474,382
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G |
Cysltr2 |
cysteinyl leukotriene receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:48,190,251...48,229,906
Ensembl chr15:48,189,073...48,304,136
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G |
Dach1 |
dachshund family transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:74,528,122...74,909,811
Ensembl chr15:74,529,208...74,909,922
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G |
Diaph3 |
diaphanous-related formin 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:62,543,375...63,013,060
Ensembl chr15:62,543,375...63,012,975
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G |
Dis3 |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642
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G |
Dleu7 |
deleted in lymphocytic leukemia, 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:36,479,535...36,496,069
Ensembl chr15:36,479,534...36,495,697
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G |
Ebpl |
EBP like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:35,508,074...35,531,472
Ensembl chr15:35,508,074...35,531,472
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G |
Ednrb |
endothelin receptor type B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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G |
Fam124a |
family with sequence similarity 124 member A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:36,799,836...36,855,062
Ensembl chr15:36,799,877...36,853,683
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G |
Fbxl3 |
F-box and leucine-rich repeat protein 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:79,906,795...79,926,678
Ensembl chr15:79,906,795...79,927,867
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G |
Fndc3a |
fibronectin type III domain containing 3a |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:47,689,909...47,867,354
Ensembl chr15:47,689,919...47,866,784
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G |
Ints6 |
integrator complex subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:36,908,966...37,048,043
Ensembl chr15:36,933,724...37,021,527
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G |
Itm2b |
integral membrane protein 2B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
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G |
Kcnrg |
potassium channel regulator |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,774,492...35,778,818
Ensembl chr15:35,774,326...35,779,415
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G |
Kctd12 |
potassium channel tetramerization domain containing 12 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,800,077...79,806,064
Ensembl chr15:79,801,191...79,806,282
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G |
Klf12 |
KLF transcription factor 12 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:76,628,778...77,062,000
Ensembl chr15:76,637,654...77,062,056
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G |
Klf5 |
KLF transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445
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G |
Klhl1 |
kelch-like family member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:72,698,188...73,142,707
Ensembl chr15:72,699,094...73,142,594
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G |
Kpna3 |
karyopherin subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:35,536,310...35,610,066
Ensembl chr15:35,536,316...35,610,419
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G |
Lmo7 |
LIM domain 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:78,567,029...78,769,833
Ensembl chr15:78,567,023...78,769,783
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G |
LOC102554746 |
uncharacterized LOC102554746 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:36,674,840...36,701,304
Ensembl chr15:36,677,527...36,701,211
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G |
Lpar6 |
lysophosphatidic acid receptor 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331
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G |
Med4 |
mediator complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:48,696,542...48,706,818
Ensembl chr15:48,696,511...48,706,820
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G |
Mycbp2 |
MYC binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:79,937,354...80,175,432
Ensembl chr15:79,937,354...80,175,498
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G |
Mzt1 |
mitotic spindle organizing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:75,786,992...75,797,631
Ensembl chr15:75,786,994...75,797,589
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G |
Ndfip2 |
Nedd4 family interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:82,032,366...82,087,043
Ensembl chr15:82,032,366...82,086,317
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G |
Nek3 |
NIMA-related kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr16:69,867,020...69,892,477
Ensembl chr16:69,867,047...69,892,508
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G |
Nek5 |
NIMA-related kinase 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr16:69,895,414...69,938,668
Ensembl chr16:69,895,422...69,939,429
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G |
Nudt15 |
nudix hydrolase 15 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:48,707,776...48,747,363
Ensembl chr15:48,709,700...48,747,363
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G |
Obi1 |
ORC ubiquitin ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:81,269,413...81,308,734
Ensembl chr15:81,269,416...81,308,734
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G |
Olfm4 |
olfactomedin 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:55,385,100...55,429,687
Ensembl chr15:55,407,148...55,429,681
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G |
Pcdh17 |
protocadherin 17 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:60,222,088...60,316,172
Ensembl chr15:60,222,004...60,313,999
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G |
Pcdh20 |
protocadherin 20 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:64,425,534...64,431,790
Ensembl chr15:64,425,534...64,431,790
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G |
Pcdh8 |
protocadherin 8 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:55,198,475...55,203,021
Ensembl chr15:55,198,459...55,205,872
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G |
Pcdh9 |
protocadherin 9 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:69,340,108...70,237,531
Ensembl chr15:69,340,645...70,237,538
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G |
Phf11 |
PHD finger protein 11 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:33,390,290...33,414,647
Ensembl chr15:33,390,292...33,413,009
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G |
Pibf1 |
progesterone immunomodulatory binding factor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712
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G |
Pou4f1 |
POU class 4 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:81,255,566...81,260,057
Ensembl chr15:81,257,781...81,259,728
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G |
Prr20e |
proline rich 20E |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr 4:121,566,632...121,574,734
Ensembl chr 4:121,571,797...121,573,140
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G |
Rb1 |
RB transcriptional corepressor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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G |
Rbm26 |
RNA binding motif protein 26 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:81,884,783...81,964,245
Ensembl chr15:81,887,219...81,964,118
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G |
Rcbtb1 |
RCC1 and BTB domain containing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:33,319,586...33,362,421
Ensembl chr15:33,319,586...33,365,302
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G |
Rcbtb2 |
RCC1 and BTB domain containing protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:48,319,809...48,364,441
Ensembl chr15:48,323,866...48,383,750
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G |
Rnaseh2b |
ribonuclease H2, subunit B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
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G |
Scel |
sciellin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:80,339,661...80,456,546
Ensembl chr15:80,339,951...80,456,372
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G |
Serpine3 |
serpin family E member 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:36,908,816...36,931,825
Ensembl chr15:36,907,131...36,933,150
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G |
Setdb2 |
SET domain bifurcated histone lysine methyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:33,553,657...33,606,586
Ensembl chr15:33,453,952...33,606,470
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G |
Slain1 |
SLAIN motif family, member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:80,482,818...80,542,461
Ensembl chr15:80,482,367...80,542,350
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G |
Slitrk1 |
SLIT and NTRK-like family, member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:85,723,252...85,727,290
Ensembl chr15:85,724,475...85,727,509
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G |
Slitrk6 |
SLIT and NTRK-like family, member 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:87,563,506...87,570,125
Ensembl chr15:87,563,322...87,570,393
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G |
Spry2 |
sprouty RTK signaling antagonist 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:82,692,312...82,697,408
Ensembl chr15:82,692,143...82,698,009
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G |
Spryd7 |
SPRY domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:35,707,185...35,727,704
Ensembl chr15:35,707,060...35,727,509
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G |
Sucla2 |
succinate-CoA ligase ADP-forming subunit beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:48,752,356...48,805,495
Ensembl chr15:48,752,312...48,805,138
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G |
Sugt1 |
SGT1 homolog, MIS12 kinetochore complex assembly cochaperone |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:54,991,419...55,032,244
Ensembl chr15:54,990,672...55,069,150
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G |
Tbc1d4 |
TBC1 domain family, member 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265
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G |
Tdrd3 |
tudor domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:63,340,531...63,497,208
Ensembl chr15:63,341,235...63,476,110
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G |
Thsd1 |
thrombospondin type 1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
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G |
Trim13 |
tripartite motif-containing 13 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:35,733,548...35,772,676
Ensembl chr15:35,734,107...35,772,677
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G |
Uchl3 |
ubiquitin C-terminal hydrolase L3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:78,485,304...78,527,355
Ensembl chr15:78,485,315...78,527,355
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G |
Vps36 |
vacuolar protein sorting 36 homolog |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr16:69,810,404...69,834,789
Ensembl chr16:69,808,193...69,834,810
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G |
Wdfy2 |
WD repeat and FYVE domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr15:37,083,842...37,209,559
Ensembl chr15:37,042,987...37,209,304
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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 |
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NCBI chr 1:118,053,270...118,286,858
Ensembl chr 1:118,103,219...118,285,699
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G |
Atp10a |
ATPase phospholipid transporting 10A (putative) |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:109,556,760...109,730,440
Ensembl chr 1:109,556,782...109,730,437
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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 |
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NCBI chr12:24,104,187...25,194,123
Ensembl chr12:24,104,192...25,194,416
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G |
Ccdc92b |
coiled-coil domain containing 92B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr10:59,479,798...59,501,482
Ensembl chr10:59,479,743...59,501,495
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G |
Chrna7 |
cholinergic receptor nicotinic alpha 7 subunit |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
|
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NCBI chr 1:116,715,286...116,837,223
Ensembl chr 1:116,714,711...116,837,240
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G |
Cluh |
clustered mitochondria homolog |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr10:59,509,580...59,531,345
Ensembl chr10:59,509,726...59,531,345
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G |
Cyfip1 |
cytoplasmic FMR1 interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:106,710,924...106,799,393
Ensembl chr 1:106,711,016...106,799,386
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G |
Entrep2 |
endosomal transmembrane epsin interactor 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:118,288,365...118,700,514
Ensembl chr 1:118,288,379...118,700,671
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G |
Gabra5 |
gamma-aminobutyric acid type A receptor subunit alpha 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:108,268,728...108,381,670
Ensembl chr 1:108,268,776...108,380,917
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G |
Gabrb3 |
gamma-aminobutyric acid type A receptor subunit beta 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961
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G |
Gabrg3 |
gamma-aminobutyric acid type A receptor subunit gamma 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:107,627,450...108,247,483
Ensembl chr 1:107,627,390...108,246,763
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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 chr 1:106,904,789...107,110,997
Ensembl chr 1:106,880,084...107,108,134
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G |
LOC120100235 |
small nucleolar RNA SNORD115 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:110,274,700...110,274,777
Ensembl chr 1:110,274,700...110,274,777
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G |
LOC120100287 |
small nucleolar RNA SNORD115 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:110,313,740...110,313,816
Ensembl chr 1:110,313,740...110,313,816
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G |
LOC120100291 |
small nucleolar RNA SNORD115 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:110,322,055...110,322,131
Ensembl chr 1:110,322,055...110,322,131
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G |
LOC120100294 |
small nucleolar RNA SNORD116 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:110,951,599...110,951,691
Ensembl chr 1:110,951,599...110,951,691
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G |
LOC120100323 |
small nucleolar RNA SNORD116 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:111,002,979...111,003,070
Ensembl chr 1:111,002,979...111,003,070
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G |
Magel2 |
MAGE family member L2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:115,880,137...115,884,680
Ensembl chr 1:115,880,474...115,884,250
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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 1:115,926,774...115,929,286
Ensembl chr 1:115,926,776...115,929,283
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G |
Ndn |
necdin, MAGE family member |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:115,849,168...115,850,767
Ensembl chr 1:115,849,105...115,850,767
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G |
Nipa1 |
NIPA magnesium transporter 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:106,834,000...106,875,148
Ensembl chr 1:106,834,000...106,874,790
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G |
Nipa2 |
NIPA magnesium transporter 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:106,799,979...106,824,206
Ensembl chr 1:106,800,903...106,824,126
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G |
Nsmce3 |
NSE3 homolog, SMC5-SMC6 complex component |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:118,401,302...118,402,629
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G |
Oca2 |
OCA2 melanosomal transmembrane protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:107,116,278...107,446,093
Ensembl chr 1:107,116,278...107,446,074
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G |
Otud7a |
OTU deubiquitinase 7A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
|
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NCBI chr 1:117,064,428...117,388,217
Ensembl chr 1:117,064,496...117,386,480
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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 chr10:59,533,042...59,591,808
Ensembl chr10:59,534,117...59,591,808
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G |
Rap1gap2 |
RAP1 GTPase activating protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr10:59,255,278...59,472,536
Ensembl chr10:59,255,278...59,472,170
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G |
Snord107 |
small nucleolar RNA, C/D box 107 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:111,099,306...111,099,377
Ensembl chr 1:111,099,306...111,099,377
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G |
Snord64 |
small nucleolar RNA, C/D box 64 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:111,094,909...111,094,975
Ensembl chr 1:111,094,909...111,094,975
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G |
Snrpn |
small nuclear ribonucleoprotein polypeptide N |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:111,101,327...111,123,400
Ensembl chr 1:111,101,329...111,123,634
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G |
Snurf |
SNRPN upstream open reading frame |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:111,101,327...111,123,634
Ensembl chr 1:111,101,329...111,123,634
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G |
Tjp1 |
tight junction protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:118,849,838...119,094,492
Ensembl chr 1:118,849,838...119,094,432
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G |
Tubgcp5 |
tubulin, gamma complex associated protein 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:106,636,526...106,672,175
Ensembl chr 1:106,636,526...106,672,175
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G |
Ube3a |
ubiquitin protein ligase E3A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:110,070,260...110,161,675
Ensembl chr 1:110,070,480...110,157,250
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G |
Chrna7 |
cholinergic receptor nicotinic alpha 7 subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
CTD ClinVar |
PMID:31690835 |
|
NCBI chr 1:116,715,286...116,837,223
Ensembl chr 1:116,714,711...116,837,240
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G |
Fan1 |
FANCD2 and FANCI associated nuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:117,915,323...117,945,044
Ensembl chr 1:117,917,099...117,944,977
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G |
Klf13 |
KLF transcription factor 13 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
CTD ClinVar |
PMID:31690835 |
|
NCBI chr 1:117,505,857...117,536,626
Ensembl chr 1:117,503,602...117,551,227
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G |
Mir211 |
microRNA 211 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:117,777,539...117,777,644
Ensembl chr 1:117,777,539...117,777,644
|
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G |
Mtmr10 |
myotubularin related protein 10 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:117,859,355...117,910,839
Ensembl chr 1:117,859,267...117,910,849
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G |
Otud7a |
OTU deubiquitinase 7A |
|
ISS ISO |
OMIM:612001 ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
MouseDO ClinVar |
PMID:31690835 |
|
NCBI chr 1:117,064,428...117,388,217
Ensembl chr 1:117,064,496...117,386,480
|
|
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 1:117,718,896...117,835,434
Ensembl chr 1:117,718,896...117,834,605
|
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G |
Commd4 |
COMM domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
|
NCBI chr 8:57,566,236...57,569,794
Ensembl chr 8:57,566,236...57,569,760
|
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G |
Cspg4 |
chondroitin sulfate proteoglycan 4 |
|
ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
|
NCBI chr 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010
|
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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 8:57,339,528...57,340,416
Ensembl chr 8:57,339,496...57,340,414
|
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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 8:57,537,879...57,549,691
Ensembl chr 8:57,537,321...57,549,690
|
|
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 8:57,550,142...57,556,884
Ensembl chr 8:57,550,147...57,556,258
|
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G |
Odf3l1 |
outer dense fiber of sperm tails 3-like 1 |
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ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
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NCBI chr 8:57,248,746...57,281,084
Ensembl chr 8:57,248,746...57,281,004
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G |
Ptpn9 |
protein tyrosine phosphatase, non-receptor type 9 |
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ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
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NCBI chr 8:57,391,290...57,472,352
Ensembl chr 8:57,391,259...57,470,952
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G |
Sin3a |
SIN3 transcription regulator family member A |
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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 PMID:28492532 PMID:30267900 More...
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NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192
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G |
Snupn |
snurportin 1 |
|
ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
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NCBI chr 8:57,347,412...57,388,345
Ensembl chr 8:57,348,130...57,380,912
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G |
Snx33 |
sorting nexin 33 |
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ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
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NCBI chr 8:57,315,861...57,328,522
Ensembl chr 8:57,317,161...57,327,538
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G |
Adamts17 |
ADAM metallopeptidase with thrombospondin type 1 motif, 17 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:120,445,800...120,768,204
Ensembl chr 1:120,445,749...120,768,202
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G |
Aldh1a3 |
aldehyde dehydrogenase 1 family, member A3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:119,982,272...120,017,416
Ensembl chr 1:119,982,277...120,017,436
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G |
Asb7 |
ankyrin repeat and SOCS box-containing 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:120,222,835...120,267,411
Ensembl chr 1:120,222,745...120,267,282
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G |
Cers3 |
ceramide synthase 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:120,316,930...120,422,926
Ensembl chr 1:120,318,212...120,422,902
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G |
Chsy1 |
chondroitin sulfate synthase 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:119,689,626...119,750,711
Ensembl chr 1:119,686,350...119,750,601
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G |
Igf1r |
insulin-like growth factor 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
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G |
Lins1 |
lines homolog 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:120,267,586...120,295,013
Ensembl chr 1:120,267,693...120,293,607
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G |
Lrrc28 |
leucine rich repeat containing 28 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:121,116,833...121,245,805
Ensembl chr 1:121,127,733...121,245,784
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G |
Lrrk1 |
leucine-rich repeat kinase 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:119,844,360...119,972,885
Ensembl chr 1:119,845,146...119,979,734
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G |
Lysmd4 |
LysM domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:120,839,178...120,845,148
Ensembl chr 1:120,839,282...120,845,135
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G |
Mef2a |
myocyte enhancer factor 2a |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:120,847,874...120,982,488
Ensembl chr 1:120,850,080...120,981,948
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G |
Pgpep1l |
pyroglutamyl-peptidase I-like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:121,835,243...121,868,368
Ensembl chr 1:121,840,697...121,869,407
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G |
Synm |
synemin |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:121,333,712...121,363,652
Ensembl chr 1:121,333,720...121,363,652
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G |
Ttc23 |
tetratricopeptide repeat domain 23 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:121,245,996...121,329,500
Ensembl chr 1:121,248,084...121,329,494
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G |
Aldoa |
aldolase, fructose-bisphosphate A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182
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G |
Aldoart2 |
aldolase 1 A retrogene 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
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NCBI chr 6:72,939,821...72,941,511
Ensembl chr 6:72,939,788...72,941,709
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G |
Asphd1 |
aspartate beta-hydroxylase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,552,974...181,556,842
Ensembl chr 1:181,552,884...181,556,090
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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 |
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NCBI chr 1:181,026,606...181,044,859
Ensembl chr 1:181,026,608...181,044,838
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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 |
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NCBI chr 1:181,078,293...181,090,079
Ensembl chr 1:181,078,288...181,089,686
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G |
Bola2 |
bolA family member 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
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NCBI chr 1:181,291,777...181,292,836
Ensembl chr 1:181,291,398...181,292,676
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G |
C1h16orf54 |
similar to human chromosome 16 open reading frame 54 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,702,447...181,705,128
Ensembl chr 1:181,702,503...181,705,835
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G |
C1h16orf92 |
similar to human chromosome 16 open reading frame 92 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,434,524...181,441,000
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G |
Cd19 |
CD19 molecule |
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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 |
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NCBI chr 1:180,987,286...180,993,920
Ensembl chr 1:180,987,286...180,993,975
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G |
Cdipt |
CDP-diacylglycerol--inositol 3-phosphatidyltransferase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,583,098...181,587,409
Ensembl chr 1:181,583,141...181,587,408
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G |
Cdiptos |
CDIP transferase, opposite strand |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
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NCBI chr 1:181,579,391...181,583,017
Ensembl chr 1:181,579,387...181,582,860
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G |
Coro1a |
coronin 1A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534
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G |
Doc2a |
double C2 domain alpha |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,457,415...181,462,528
Ensembl chr 1:181,458,390...181,462,030
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G |
Eif3c |
eukaryotic translation initiation factor 3, subunit C |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,134,604...181,152,489
Ensembl chr 1:181,134,604...181,152,493
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G |
Gdpd3 |
glycerophosphodiester phosphodiesterase domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063
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G |
Hirip3 |
HIRA interacting protein 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,472,056...181,475,082
Ensembl chr 1:181,472,056...181,475,079
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G |
Ino80e |
INO80 complex subunit E |
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ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,461,406...181,472,059
Ensembl chr 1:181,461,408...181,472,469
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G |
Kctd13 |
potassium channel tetramerization domain containing 13 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,534,534...181,552,843
Ensembl chr 1:181,534,515...181,552,881
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G |
Kif22 |
kinesin family member 22 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,635,347...181,650,351
Ensembl chr 1:181,635,183...181,650,401
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G |
Lat |
linker for activation of T cells |
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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 |
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NCBI chr 1:180,936,536...180,941,561
Ensembl chr 1:180,936,534...180,941,578
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G |
Mapk3 |
mitogen activated protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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G |
Maz |
MYC associated zinc finger protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,629,742...181,635,193
Ensembl chr 1:181,629,729...181,650,408
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G |
Mvp |
major vault protein |
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ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,594,734...181,622,336
Ensembl chr 1:181,594,734...181,622,380
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G |
Nfatc2ip |
nuclear factor of activated T-cells 2 interacting protein |
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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 |
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NCBI chr 1:180,954,834...180,971,847
Ensembl chr 1:180,955,043...180,971,747
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G |
Pagr1 |
Paxip1-associated glutamate-rich protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,622,708...181,624,996
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G |
Ppp4c |
protein phosphatase 4, catalytic subunit |
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ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,392,899...181,399,703
Ensembl chr 1:181,392,923...181,399,659
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G |
Prrt2 |
proline-rich transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,625,243...181,628,905
Ensembl chr 1:181,604,545...181,628,850
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G |
Qprt |
quinolinate phosphoribosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,718,189...181,733,486
Ensembl chr 1:181,718,190...181,733,486
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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 |
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NCBI chr 1:181,010,305...181,026,651
Ensembl chr 1:181,010,305...181,026,648
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G |
Sez6l2 |
seizure related 6 homolog like 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,557,109...181,577,456
Ensembl chr 1:181,557,109...181,577,456
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G |
Sftpa1 |
surfactant protein A1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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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 |
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NCBI chr 1:181,048,622...181,057,036
Ensembl chr 1:181,048,623...181,056,579
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G |
Slx1b |
SLX1 homolog B, structure-specific endonuclease subunit |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,286,190...181,291,739
Ensembl chr 1:181,283,921...181,291,775
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G |
Spn |
sialophorin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,746,937...181,759,564
Ensembl chr 1:181,746,429...181,759,628
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G |
Spns1 |
sphingolipid transporter 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 |
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NCBI chr 1:180,942,088...180,949,415
Ensembl chr 1:180,942,088...180,949,370
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G |
Sult1a1 |
sulfotransferase family 1A member 1 |
|
ISO |
ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
|
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NCBI chr 1:181,272,022...181,276,750
Ensembl chr 1:181,272,023...181,275,562
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G |
Taok2 |
TAO kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,475,708...181,494,738
Ensembl chr 1:181,475,711...181,494,613
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G |
Tbx6 |
T-box transcription factor 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,387,851...181,392,762
Ensembl chr 1:181,388,684...181,392,593
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G |
Tlcd3b |
TLC domain containing 3B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,421,104...181,439,744
Ensembl chr 1:181,422,830...181,439,743
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G |
Tmem219 |
transmembrane protein 219 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,496,194...181,509,258
Ensembl chr 1:181,496,192...181,534,472
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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 |
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NCBI chr 1:181,073,788...181,077,395
Ensembl chr 1:181,073,788...181,077,395
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G |
Ypel3 |
yippee-like 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,384,385...181,387,706
Ensembl chr 1:181,384,357...181,387,705
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G |
Zg16 |
zymogen granule protein 16 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:181,657,722...181,660,079
Ensembl chr 1:181,657,722...181,660,079
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G |
Acd |
ACD, shelterin complex subunit and telomerase recruitment factor |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,586,739...33,589,481
Ensembl chr19:33,586,745...33,589,461
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G |
C19h16orf86 |
similar to human chromosome 16 open reading frame 86 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,596,591...33,598,703
Ensembl chr19:33,595,995...33,598,521
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G |
Carmil2 |
capping protein regulator and myosin 1 linker 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,571,255...33,586,783
Ensembl chr19:33,574,257...33,586,965
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G |
Ctcf |
CCCTC-binding factor |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
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G |
Enkd1 |
enkurin domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,592,074...33,596,552
Ensembl chr19:33,592,078...33,596,545
|
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G |
Gfod2 |
glucose-fructose oxidoreductase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,599,689...33,647,060
Ensembl chr19:33,604,187...33,647,004
|
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G |
Pard6a |
par-6 family cell polarity regulator alpha |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr19:33,589,583...33,591,900
Ensembl chr19:33,589,542...33,591,900
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G |
Ranbp10 |
RAN binding protein 10 |
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ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr19:33,656,046...33,716,864
Ensembl chr19:33,656,046...33,717,033
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Kansl1 |
KAT8 regulatory NSL complex subunit 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22544363 PMID:22544367 |
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NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951
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Tp53 |
tumor protein p53 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14961032 |
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Rnf135 |
ring finger protein 135 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome |
CTD ClinVar |
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 PMID:30665703 PMID:30763456 More...
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NCBI chr10:65,170,560...65,189,791
Ensembl chr10:65,170,560...65,262,804
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Aatf |
apoptosis antagonizing transcription factor |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:69,299,029...69,392,207
Ensembl chr10:69,299,037...69,392,201
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Acaca |
acetyl-CoA carboxylase alpha |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457
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Ccl3 |
C-C motif chemokine ligand 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
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Ccl4 |
C-C motif chemokine ligand 4 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr10:68,466,469...68,467,941
Ensembl chr10:68,452,052...68,468,231
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Ddx52 |
DExD-box helicase 52 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:68,824,594...68,847,400
Ensembl chr10:68,824,645...68,848,266
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Dhrs11 |
dehydrogenase/reductase 11 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:69,698,214...69,708,294
Ensembl chr10:69,698,214...69,708,295
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Dusp14 |
dual specificity phosphatase 14 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:68,936,483...68,966,347
Ensembl chr10:68,935,330...68,965,329
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Ggnbp2 |
gametogenetin binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:69,711,527...69,743,134
Ensembl chr10:69,711,532...69,743,365
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Hnf1b |
HNF1 homeobox B |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
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Lhx1 |
LIM homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:69,396,829...69,403,617
Ensembl chr10:69,396,829...69,403,617
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LOC102552988 |
uncharacterized LOC102552988 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:69,034,887...69,054,100
Ensembl chr10:69,037,708...69,054,113
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Mrm1 |
mitochondrial rRNA methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:69,690,406...69,697,326
Ensembl chr10:69,690,421...69,696,709
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Mrpl45 |
mitochondrial ribosomal protein L45 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr10:82,308,650...82,320,474
Ensembl chr10:82,308,427...82,320,474
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Myo19 |
myosin XIX |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:69,753,082...69,782,450
Ensembl chr10:69,753,068...69,782,450
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Pigw |
phosphatidylinositol glycan anchor biosynthesis, class W |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475
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Synrg |
synergin, gamma |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:68,848,828...68,931,252
Ensembl chr10:68,849,642...68,931,250
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Tada2a |
transcriptional adaptor 2A |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:68,966,502...69,014,149
Ensembl chr10:68,966,502...69,014,105
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Znhit3 |
zinc finger, HIT-type containing 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:69,775,885...69,790,471
Ensembl chr10:69,748,789...69,790,475
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Afg3l2 |
AFG3 like matrix AAA peptidase subunit 2 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110
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Akain1 |
A-kinase anchor inhibitor 1 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:109,389,654...109,436,029
Ensembl chr 9:109,389,736...109,435,067
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Ankrd12 |
ankyrin repeat domain 12 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:105,583,273...105,687,957
Ensembl chr 9:105,584,065...105,687,911
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Apcdd1 |
APC down-regulated 1 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:56,385,398...56,416,065
Ensembl chr18:56,385,264...56,416,070
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Arhgap28 |
Rho GTPase activating protein 28 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:107,832,584...107,998,030
Ensembl chr 9:107,833,330...107,998,000
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Cep192 |
centrosomal protein 192 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:61,346,957...61,458,405
Ensembl chr18:61,332,158...61,458,379
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Cep76 |
centrosomal protein 76 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:61,174,514...61,208,512
Ensembl chr18:61,178,310...61,208,504
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Chmp1b |
charged multivesicular body protein 1B |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:60,740,349...60,742,879
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Cidea |
cell death-inducing DFFA-like effector a |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:60,894,917...60,920,485
Ensembl chr18:60,894,874...60,920,481
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Dlgap1 |
DLG associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:109,857,500...110,726,817
Ensembl chr 9:110,167,448...110,726,817
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Emilin2 |
elastin microfibril interfacer 2 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:111,160,708...111,220,463
Ensembl chr 9:111,160,712...111,220,352
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Epb41l3 |
erythrocyte membrane protein band 4.1-like 3 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:109,056,178...109,260,607
Ensembl chr 9:109,016,113...109,260,607
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Fam210a |
family with sequence similarity 210, member A |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:61,846,447...61,886,123
Ensembl chr18:61,852,907...61,886,171
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Gnal |
G protein subunit alpha L |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:60,622,311...60,762,599
Ensembl chr18:60,622,311...60,762,599
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Impa2 |
inositol monophosphatase 2 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:60,834,206...60,867,575
Ensembl chr18:60,834,246...60,865,641
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L3mbtl4 |
L3MBTL histone methyl-lysine binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:108,295,004...108,747,879
Ensembl chr 9:108,329,669...108,747,774
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Lama1 |
laminin subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:107,692,770...107,816,847
Ensembl chr 9:107,692,770...107,817,478
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Ldlrad4 |
low density lipoprotein receptor class A domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:61,519,253...61,848,403
Ensembl chr18:61,521,428...61,843,238
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LOC691519 |
similar to ankyrin repeat domain 26 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:175,074,189...175,162,056
Ensembl chr 1:175,074,198...175,162,053
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