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: | chromosomal deletion syndrome |
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Accession: | DOID:0060388
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browse the term
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Definition: | A chromosomal disease that has_material_basis_in partial deletion of chromosomes. (DO) |
Synonyms: | exact_synonym: | chromosome deletion syndrome |
For additional species annotation, visit the
Alliance of Genome Resources.
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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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Abl2 |
ABL proto-oncogene 2, non-receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr13:68,673,702...68,839,742
Ensembl chr13:68,673,722...68,839,742
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Acbd6 |
acyl-CoA binding domain containing 6 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr13:67,726,786...67,863,392
Ensembl chr13:67,726,786...67,862,311
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Angptl1 |
angiopoietin-like 1 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr13:68,963,198...68,969,742
Ensembl chr13:68,962,991...68,992,570
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Ankrd45 |
ankyrin repeat domain 45 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
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Ensembl chr13:73,424,480...73,450,466
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Astn1 |
astrotactin 1 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr13:70,537,423...70,855,440
Ensembl chr13:70,537,703...70,855,440
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Atp1b1 |
ATPase Na+/K+ transporting subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:76,786,580...76,807,096
Ensembl chr13:76,786,578...76,807,459
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Axdnd1 |
axonemal dynein light chain domain containing 1 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172
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Blzf1 |
basic leucine zipper nuclear factor 1 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:76,641,757...76,656,977
Ensembl chr13:76,641,515...76,656,999
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Brinp2 |
BMP/retinoic acid inducible neural specific 2 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr13:70,431,006...70,532,766
Ensembl chr13:70,431,010...70,531,810
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Cacna1e |
calcium voltage-gated channel subunit alpha1 E |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr13:66,574,659...67,063,443
Ensembl chr13:66,581,920...66,894,450
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Cacybp |
calcyclin binding protein |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
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NCBI chr13:72,437,485...72,447,810
Ensembl chr13:72,437,490...72,450,177
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Ccdc181 |
coiled-coil domain containing 181 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:76,624,567...76,638,224
Ensembl chr13:76,624,567...76,638,224
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Cenpl |
centromere protein L |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
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NCBI chr13:73,337,235...73,352,115
Ensembl chr13:73,337,257...73,352,114
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Cep350 |
centrosomal protein 350 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr13:68,023,327...68,164,478
Ensembl chr13:68,026,891...68,165,214
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Cop1 |
COP1, E3 ubiquitin ligase |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr13:71,467,164...71,561,826
Ensembl chr13:71,429,961...71,538,890
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Dars2 |
aspartyl-tRNA synthetase 2 (mitochondrial) |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
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NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934
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Dhx9 |
DExH-box helicase 9 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr13:65,602,322...65,639,098
Ensembl chr13:65,602,323...65,639,069
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Dnm3 |
dynamin 3 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:74,359,043...74,838,135
Ensembl chr13:74,359,213...74,838,108
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F5 |
coagulation factor V |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
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Fam163a |
family with sequence similarity 163, member A |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr13:68,262,867...68,341,323
Ensembl chr13:68,262,872...68,341,049
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Fam20b |
FAM20B, glycosaminoglycan xylosylkinase |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr13:68,801,663...68,839,979
Ensembl chr13:68,801,669...68,839,915
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Faslg |
Fas ligand |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Fmo1 |
flavin containing dimethylaniline monoxygenase 1 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:75,182,184...75,214,439
Ensembl chr13:75,182,176...75,214,647
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Fmo2 |
flavin containing dimethylaniline monoxygenase 2 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:75,221,149...75,244,377
Ensembl chr13:75,224,402...75,244,308
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Fmo3 |
flavin containing dimethylaniline monoxygenase 3 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:75,309,367...75,334,915
Ensembl chr13:75,309,374...75,328,028
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Fmo4 |
flavin containing dimethylaniline monoxygenase 4 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:75,154,683...75,172,932
Ensembl chr13:75,154,684...75,172,874
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Gas5 |
growth arrest specific 5 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
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NCBI chr13:73,303,611...73,306,932
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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
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G |
Gorab |
golgin, RAB6-interacting |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:75,745,678...75,762,307
Ensembl chr13:75,745,680...75,762,298
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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 |
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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 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr13:67,270,134...67,272,226
Ensembl chr13:67,270,135...67,272,227
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G |
Kiaa0040 |
KIAA0040 ortholog |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
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NCBI chr13:72,274,519...72,312,103
Ensembl chr13:72,274,552...72,312,103
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G |
Kifap3 |
kinesin-associated protein 3 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:76,127,702...76,264,654
Ensembl chr13:76,127,696...76,264,650
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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 |
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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 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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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 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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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 |
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NCBI chr13:67,873,618...67,927,003
Ensembl chr13:67,877,109...67,927,003
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G |
LOC498265 |
similar to hypothetical protein FLJ10706 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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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 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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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 |
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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 |
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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 |
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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 |
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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
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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
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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
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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
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G |
Prrx1 |
paired related homeobox 1 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr13:75,600,777...75,671,896
Ensembl chr13:75,601,706...75,670,866
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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
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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
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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 |
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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 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
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NCBI chr13:73,271,920...73,303,427
Ensembl chr13:73,280,544...73,337,124
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Zfp648 |
zinc finger protein 648 |
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ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12223415 |
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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 |
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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 |
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ISO |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr16:6,918,487...7,050,244
Ensembl chr16:6,914,336...7,050,249
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G |
Btd |
biotinidase |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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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 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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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 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:21681106 |
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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 |
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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 |
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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 |
Elp4 |
elongator acetyltransferase complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: 11p deletion syndrome |
ClinVar |
PMID:28492532 |
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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 |
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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 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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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 |
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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 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
|
|
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
|
|
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 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
CTD ClinVar |
PMID:31690835 |
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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 |
Fan1 |
FANCD2 and FANCI associated nuclease 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
CTD ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
ClinVar |
PMID:31690835 |
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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 |
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ISS ISO |
OMIM:612001 ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
MouseDO ClinVar |
PMID:31690835 |
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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 |
Trpm1 |
transient receptor potential cation channel, subfamily M, member 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
ClinVar |
PMID:31690835 |
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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 |
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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 8:57,566,236...57,569,794
Ensembl chr 8:57,566,236...57,569,760
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G |
Cspg4 |
chondroitin sulfate proteoglycan 4 |
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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 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010
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G |
Imp3 |
IMP U3 small nucleolar ribonucleoprotein 3 |
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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 8:57,339,528...57,340,416
Ensembl chr 8:57,339,496...57,340,414
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G |
Man2c1 |
mannosidase, alpha, class 2C, member 1 |
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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 8:57,537,879...57,549,691
Ensembl chr 8:57,537,321...57,549,690
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G |
Neil1 |
nei-like DNA glycosylase 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 8:57,550,142...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 |
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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 8:57,347,412...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 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:120,222,835...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 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:121,549,839...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 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:121,116,833...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 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:120,847,874...120,982,488
Ensembl chr 1:120,850,080...120,981,948
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G |
Pgpep1l |
pyroglutamyl-peptidase I-like |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:121,835,243...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 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:121,245,996...121,329,500
Ensembl chr 1:121,248,084...121,329,494
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G |
Aldoa |
aldolase, fructose-bisphosphate A |
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ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,402,275...181,407,476
Ensembl chr 1:181,402,275...181,406,182
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G |
Aldoart2 |
aldolase 1 A retrogene 2 |
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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 |
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ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,552,974...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 |
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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 1:181,026,606...181,044,859
Ensembl chr 1:181,026,608...181,044,838
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G |
Atxn2l |
ataxin 2-like |
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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 1:181,078,293...181,090,079
Ensembl chr 1:181,078,288...181,089,686
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G |
Bola2 |
bolA family member 2 |
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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 |
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ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,702,447...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 |
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ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,434,524...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 |
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ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,583,098...181,587,409
Ensembl chr 1:181,583,141...181,587,408
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G |
Cdiptos |
CDIP transferase, opposite strand |
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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 |
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ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534
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G |
Doc2a |
double C2 domain alpha |
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ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,457,415...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 |
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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: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 |
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ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,373,505...181,383,063
Ensembl chr 1:181,366,626...181,383,063
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G |
Hirip3 |
HIRA interacting protein 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,472,056...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 |
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ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,534,534...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 |
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ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:181,629,742...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 |
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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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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 |
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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 |
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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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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 |
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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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G |
Tmem219 |
transmembrane protein 219 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 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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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 |
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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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G |
Zg16 |
zymogen granule protein 16 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 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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G |
Acd |
ACD, shelterin complex subunit and telomerase recruitment factor |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
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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 |
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ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
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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 |
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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 |
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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 |
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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 |
|
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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G |
Kansl1 |
KAT8 regulatory NSL complex subunit 1 |
|
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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G |
Tp53 |
tumor protein p53 |
|
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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G |
Rnf135 |
ring finger protein 135 |
|
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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G |
Aatf |
apoptosis antagonizing transcription factor |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:69,299,029...69,392,207
Ensembl chr10:69,299,037...69,392,201
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G |
Acaca |
acetyl-CoA carboxylase alpha |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457
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G |
Ccl3 |
C-C motif chemokine ligand 3 |
|
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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G |
Ccl4 |
C-C motif chemokine ligand 4 |
|
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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G |
Ddx52 |
DExD-box helicase 52 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:68,824,594...68,847,400
Ensembl chr10:68,824,645...68,848,266
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G |
Dhrs11 |
dehydrogenase/reductase 11 |
|
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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G |
Dusp14 |
dual specificity phosphatase 14 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:68,936,483...68,966,347
Ensembl chr10:68,935,330...68,965,329
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G |
Ggnbp2 |
gametogenetin binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:69,711,527...69,743,134
Ensembl chr10:69,711,532...69,743,365
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G |
Hnf1b |
HNF1 homeobox B |
|
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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G |
Lhx1 |
LIM homeobox 1 |
|
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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G |
LOC102552988 |
uncharacterized LOC102552988 |
|
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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G |
Mrm1 |
mitochondrial rRNA methyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:69,690,406...69,697,326
Ensembl chr10:69,690,421...69,696,709
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G |
Mrpl45 |
mitochondrial ribosomal protein L45 |
|
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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G |
Myo19 |
myosin XIX |
|
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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G |
Pigw |
phosphatidylinositol glycan anchor biosynthesis, class W |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475
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G |
Synrg |
synergin, gamma |
|
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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G |
Tada2a |
transcriptional adaptor 2A |
|
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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G |
Znhit3 |
zinc finger, HIT-type containing 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr10:69,775,885...69,790,471
Ensembl chr10:69,748,789...69,790,475
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G |
Afg3l2 |
AFG3 like matrix AAA peptidase subunit 2 |
|
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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G |
Akain1 |
A-kinase anchor inhibitor 1 |
|
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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G |
Ankrd12 |
ankyrin repeat domain 12 |
|
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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G |
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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G |
Arhgap28 |
Rho GTPase activating protein 28 |
|
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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G |
Cep192 |
centrosomal protein 192 |
|
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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G |
Cep76 |
centrosomal protein 76 |
|
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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G |
Chmp1b |
charged multivesicular body protein 1B |
|
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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G |
Cidea |
cell death-inducing DFFA-like effector a |
|
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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G |
Dlgap1 |
DLG associated protein 1 |
|
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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G |
Emilin2 |
elastin microfibril interfacer 2 |
|
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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G |
Epb41l3 |
erythrocyte membrane protein band 4.1-like 3 |
|
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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G |
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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G |
Gnal |
G protein subunit alpha L |
|
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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G |
Impa2 |
inositol monophosphatase 2 |
|
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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G |
L3mbtl4 |
L3MBTL histone methyl-lysine binding protein 4 |
|
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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G |
Lama1 |
laminin subunit alpha 1 |
|
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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G |
Ldlrad4 |
low density lipoprotein receptor class A domain containing 4 |
|
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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G |
LOC691519 |
similar to ankyrin repeat domain 26 |
|
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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G |
Lpin2 |
lipin 2 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193
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G |
Lrrc30 |
leucine rich repeat containing 30 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:107,624,479...107,626,551
Ensembl chr 9:107,625,182...107,626,084
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G |
Mc2r |
melanocortin 2 receptor |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:62,001,980...62,015,567
Ensembl chr18:62,004,948...62,015,488
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G |
Mc5r |
melanocortin 5 receptor |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:61,915,188...61,920,229
Ensembl chr18:61,915,188...61,920,229
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G |
Mppe1 |
metallophosphoesterase 1 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr18:60,763,418...60,781,553
Ensembl chr18:60,763,419...60,781,553
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G |
Mtcl1 |
microtubule crosslinking factor 1 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:106,305,282...106,441,782
Ensembl chr 9:106,321,098...106,442,203
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G |
Myl12a |
myosin light chain 12A |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:110,891,970...110,899,655
Ensembl chr 9:110,873,959...110,916,580
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G |
Myl12b |
myosin light chain 12B |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:110,873,855...110,888,187
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G |
Myom1 |
myomesin 1 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344
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G |
Napg |
NSF attachment protein gamma |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:56,439,620...56,459,159
Ensembl chr18:56,440,505...56,459,153
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G |
Ndufv2 |
NADH:ubiquinone oxidoreductase core subunit V2 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:105,690,454...105,710,669
Ensembl chr 9:105,690,455...105,710,713
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G |
Piezo2 |
piezo-type mechanosensitive ion channel component 2 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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G |
Ppp4r1 |
protein phosphatase 4, regulatory subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:105,391,271...105,450,626
Ensembl chr 9:105,391,412...105,450,633
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G |
Prelid3a |
PRELI domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:60,998,898...61,034,821
Ensembl chr18:61,017,764...61,031,883
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G |
Psmg2 |
proteasome assembly chaperone 2 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:61,208,669...61,227,671
Ensembl chr18:61,208,678...61,259,816
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G |
Ptpn2 |
protein tyrosine phosphatase, non-receptor type 2 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:61,229,012...61,294,662
Ensembl chr18:61,229,014...61,294,627
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G |
Ptprm |
protein tyrosine phosphatase, receptor type, M |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:106,639,573...107,343,698
Ensembl chr 9:106,639,573...107,343,698
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G |
Rab12 |
RAB12, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:106,480,301...106,506,895
Ensembl chr 9:106,480,301...106,506,910
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G |
Rab31 |
RAB31, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:105,246,712...105,382,973
Ensembl chr 9:105,246,709...105,381,253
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G |
Ralbp1 |
ralA binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:105,456,425...105,492,711
Ensembl chr 9:105,456,425...105,492,707
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G |
Rnmt |
RNA (guanine-7-) methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:61,886,230...61,909,775
Ensembl chr18:61,886,292...61,909,775
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G |
Seh1l |
SEH1-like nucleoporin |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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G |
Smchd1 |
structural maintenance of chromosomes flexible hinge domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665
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G |
Spire1 |
spire-type actin nucleation factor 1 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:61,041,290...61,171,670
Ensembl chr18:61,041,290...61,171,899
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G |
Tgif1 |
TGFB-induced factor homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802
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G |
Tmem200c |
transmembrane protein 200C |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:108,806,063...108,811,901
Ensembl chr 9:108,805,787...108,812,226
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G |
Tubb6 |
tubulin, beta 6 class V |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418
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G |
Twsg1 |
twisted gastrulation BMP signaling modulator 1 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:105,533,116...105,567,525
Ensembl chr 9:105,533,136...105,567,479
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G |
Txndc2 |
thioredoxin domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:105,230,575...105,235,131
Ensembl chr 9:105,230,578...105,235,126
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G |
Vapa |
VAMP associated protein A |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:105,177,904...105,208,400
Ensembl chr 9:105,177,907...105,207,847
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G |
Zfp161 |
zinc finger protein 161 |
|
ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 9:109,333,440...109,338,646
Ensembl chr 9:109,331,028...109,338,632
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G |
Adnp2 |
ADNP homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:73,571,870...73,597,088
Ensembl chr18:73,571,936...73,628,484
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G |
Atp9b |
ATPase phospholipid transporting 9B (putative) |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:74,176,863...74,368,993
Ensembl chr18:74,176,863...74,368,953
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G |
Bcl2 |
BCL2, apoptosis regulator |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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G |
Cbln2 |
cerebellin 2 precursor |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:79,940,412...79,948,766
Ensembl chr18:79,942,590...79,947,855
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G |
Cd226 |
CD226 molecule |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:82,449,924...82,545,107
Ensembl chr18:82,450,568...82,543,051
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G |
Cdh19 |
cadherin 19 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr13:27,935,915...28,047,490
Ensembl chr13:27,936,668...28,019,310
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G |
Cdh20 |
cadherin 20 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:20,737,640...21,069,746
Ensembl chr13:20,738,081...21,068,676
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G |
Cdh7 |
cadherin 7 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:26,672,058...26,821,571
Ensembl chr13:26,672,484...26,819,846
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G |
Cndp1 |
carnosine dipeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:77,984,886...78,030,837
Ensembl chr18:77,984,907...78,007,765
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G |
Cndp2 |
carnosine dipeptidase 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:78,039,924...78,057,030
Ensembl chr18:78,039,932...78,056,922
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G |
Ctdp1 |
CTD phosphatase subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457
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G |
Cyb5a |
cytochrome b5 type A |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:78,213,067...78,245,677
Ensembl chr18:78,202,342...78,258,535 Ensembl chr18:78,202,342...78,258,535
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G |
Dipk1c |
divergent protein kinase domain 1C |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:78,087,972...78,109,910
Ensembl chr18:78,087,991...78,109,904
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G |
Dok6 |
docking protein 6 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:82,572,762...83,015,951
Ensembl chr18:82,572,762...83,015,951
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G |
Dsel |
dermatan sulfate epimerase-like |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:186,413...192,592
Ensembl chr13:175,805...192,647
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G |
Fbxo15 |
F-box protein 15 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:78,296,999...78,634,695
Ensembl chr18:78,319,534...78,390,765
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G |
Galr1 |
galanin receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:75,772,021...75,787,577
Ensembl chr18:75,772,023...75,787,577
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G |
Hsbp1l1 |
heat shock factor binding protein 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:73,682,286...73,690,061
Ensembl chr18:73,682,286...73,688,045
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G |
Kcng2 |
potassium voltage-gated channel modifier subfamily G member 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:73,742,224...73,810,420
Ensembl chr18:73,743,074...73,808,723
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G |
Kdsr |
3-ketodihydrosphingosine reductase |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:22,862,117...22,894,118
Ensembl chr13:22,862,117...22,894,108
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G |
LOC100359752 |
hypothetical protein LOC100359752 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:78,159,334...78,202,319
Ensembl chr18:78,164,661...78,202,326
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G |
LOC103694272 |
uncharacterized LOC103694272 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:31690835 |
|
|
|
G |
Mbp |
myelin basic protein |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
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G |
Mc4r |
melanocortin 4 receptor |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 |
|
NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
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G |
Neto1 |
neuropilin and tolloid like 1 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:79,635,633...79,753,913
Ensembl chr18:79,635,633...79,749,030
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G |
Nfatc1 |
nuclear factor of activated T-cells 1 |
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ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:74,046,421...74,156,041
Ensembl chr18:74,046,904...74,156,028
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G |
Pard6g |
par-6 family cell polarity regulator gamma |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:73,498,119...73,565,048
Ensembl chr18:73,498,021...73,565,029
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G |
Phlpp1 |
PH domain and leucine rich repeat protein phosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:22,308,532...22,530,978
Ensembl chr13:22,308,548...22,530,977
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G |
Pign |
phosphatidylinositol glycan anchor biosynthesis, class N |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:21,659,092...21,812,932
Ensembl chr13:21,662,455...21,806,790
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G |
Ptgr3 |
prostaglandin reductase 3 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr18:77,454,435...77,463,785
Ensembl chr18:77,454,435...77,463,785
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G |
Rbfa |
ribosome binding factor A |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr18:73,639,260...73,648,942
Ensembl chr18:73,639,260...73,648,915
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G |
Relch |
RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr13:21,806,972...21,902,807
Ensembl chr13:21,806,972...21,902,807
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G |
Rnf152 |
ring finger protein 152 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr13:21,324,039...21,403,405
Ensembl chr13:21,323,824...21,403,113
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G |
Rttn |
rotatin |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr18:82,220,999...82,398,334
Ensembl chr18:82,221,050...82,398,333
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G |
Sall3 |
spalt-like transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr18:74,406,058...74,425,754
Ensembl chr18:74,407,560...74,426,789
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G |
Serpinb10 |
serpin family B member 10 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:23,553,348...23,571,182
Ensembl chr13:23,553,430...23,571,182
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G |
Serpinb11 |
serpin family B member 11 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:23,304,775...23,344,604
Ensembl chr13:23,304,456...23,344,604
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G |
Serpinb12 |
serpin family B member 12 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:23,052,448...23,083,691
Ensembl chr13:23,052,448...23,083,691
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G |
Serpinb13 |
serpin family B member 13 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:23,118,584...23,150,760
Ensembl chr13:23,118,584...23,150,760
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G |
Serpinb2 |
serpin family B member 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:23,537,312...23,551,823
Ensembl chr13:23,541,400...23,550,408
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G |
Serpinb3 |
serpin family B member 3 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:23,274,120...23,280,082
Ensembl chr13:23,274,484...23,313,682
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G |
Serpinb3a |
serpin family B member 3A |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:23,241,303...23,246,328
Ensembl chr13:23,236,972...23,246,985
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G |
Serpinb5 |
serpin family B member 5 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:22,985,557...23,005,756
Ensembl chr13:22,985,557...23,005,756
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G |
Serpinb7 |
serpin family B member 7 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:23,369,830...23,442,205
Ensembl chr13:23,395,671...23,442,205
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G |
Serpinb8 |
serpin family B member 8 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:23,626,945...23,650,270
Ensembl chr13:23,626,945...23,650,835
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G |
Slc66a2 |
solute carrier family 66 member 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:73,702,472...73,739,678
Ensembl chr18:73,702,564...73,739,676
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G |
Socs6 |
suppressor of cytokine signaling 6 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:82,111,866...82,139,193
Ensembl chr18:82,111,827...82,139,219
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G |
Timm21 |
translocase of inner mitochondrial membrane 21 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:78,314,900...78,319,362
Ensembl chr18:78,314,909...78,319,454
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G |
Tmx3 |
thioredoxin-related transmembrane protein 3 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:83,731,763...83,764,374
Ensembl chr18:83,731,868...83,762,263
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G |
Tnfrsf11a |
TNF receptor superfamily member 11A |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
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G |
Tshz1 |
teashirt zinc finger homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr18:77,376,399...77,452,315
Ensembl chr18:77,377,394...77,453,509
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G |
Txnl4a |
thioredoxin-like 4A |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:73,659,107...73,674,893
Ensembl chr18:73,659,107...73,674,893
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G |
Vps4b |
vacuolar protein sorting 4 homolog B |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:22,907,105...22,932,200
Ensembl chr13:22,907,109...22,932,229
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G |
Zcchc2 |
zinc finger CCHC-type containing 2 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr13:22,118,677...22,193,626
Ensembl chr13:22,119,568...22,166,373
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G |
Zfp236 |
zinc finger protein 236 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:75,976,478...76,072,428
Ensembl chr18:75,978,231...76,073,737
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G |
Zfp407 |
zinc finger protein 407 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:77,571,140...77,970,282
Ensembl chr18:77,571,204...77,974,129
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G |
Zfp516 |
zinc finger protein 516 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr18:76,286,453...76,386,526
Ensembl chr18:76,302,096...76,385,269
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G |
Uba2 |
ubiquitin-like modifier activating enzyme 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 19q13.11 deletion syndrome, distal |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:86,775,239...86,802,685
Ensembl chr 1:86,775,244...86,802,682
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G |
Acap3 |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,500,781...166,515,477
Ensembl chr 5:166,500,781...166,515,481
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G |
Actrt2 |
actin-related protein T2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629
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G |
Agrn |
agrin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003
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G |
Ankrd65 |
ankyrin repeat domain 65 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953
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G |
Arhgef16 |
Rho guanine nucleotide exchange factor 16 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 5:164,843,656...164,866,212
Ensembl chr 5:164,844,161...164,866,212
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G |
Atad3a |
ATPase family, AAA domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
|
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G |
B3galt6 |
Beta-1,3-galactosyltransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
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G |
C1qtnf12 |
C1q and TNF related 12 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003
|
|
G |
C5h1orf159 |
similar to human chromosome 1 open reading frame 159 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955
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G |
C5h1orf174 |
similar to human chromosome 1 open reading frame 174 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 5:164,515,578...164,520,022
Ensembl chr 5:164,515,559...164,520,021
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G |
Casz1 |
castor zinc finger 1 |
|
ISS |
OMIM:607872 |
MouseDO |
|
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NCBI chr 5:159,243,965...159,393,935
Ensembl chr 5:159,243,995...159,393,400
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G |
Ccdc27 |
coiled-coil domain containing 27 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 5:164,585,285...164,599,391
Ensembl chr 5:164,585,267...164,599,355
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G |
Ccnl2 |
cyclin L2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882
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G |
Cdk11b |
cyclin-dependent kinase 11B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876
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G |
Cep104 |
centrosomal protein 104 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248
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G |
Cfap74 |
cilia and flagella associated protein 74 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071
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G |
Cptp |
ceramide-1-phosphate transfer protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017
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G |
Dffb |
DNA fragmentation factor subunit beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 5:164,522,446...164,534,733
Ensembl chr 5:164,522,463...164,534,628
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G |
Dvl1 |
dishevelled segment polarity protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
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G |
Faap20 |
FA core complex associated protein 20 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333
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|
G |
Fndc10 |
fibronectin type III domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326
|
|
G |
Gabrd |
gamma-aminobutyric acid type A receptor subunit delta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411
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|
G |
Gnb1 |
G protein subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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G |
Hes5 |
hes family bHLH transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001
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G |
Ints11 |
integrator complex subunit 11 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651
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|
G |
Isg15 |
ISG15 ubiquitin-like modifier |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435
|
|
G |
Kcnab2 |
potassium voltage-gated channel subfamily A regulatory beta subunit 2 |
|
ISS |
OMIM:607872 |
MouseDO |
|
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NCBI chr 5:162,899,511...162,988,057
Ensembl chr 5:162,901,896...162,988,243
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|
G |
Klhl17 |
kelch-like family member 17 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,813,482...166,819,949
Ensembl chr 5:166,814,110...166,818,925
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G |
Lrrc47 |
leucine rich repeat containing 47 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 5:164,570,539...164,580,174
Ensembl chr 5:164,570,435...164,580,174
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G |
Megf6 |
multiple EGF-like-domains 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 5:164,738,272...164,839,142
Ensembl chr 5:164,738,352...164,839,139
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G |
Mib2 |
MIB E3 ubiquitin protein ligase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650
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G |
Mir200a |
microRNA 200a |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,648,494...166,648,582
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|
G |
Mir200b |
microRNA 200b |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
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G |
Mir429 |
microRNA 429 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543
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G |
Mmel1 |
membrane metallo-endopeptidase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
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G |
Mmp23 |
matrix metallopeptidase 23 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433
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G |
Morn1 |
MORN repeat containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892
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G |
Mrpl20 |
mitochondrial ribosomal protein L20 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492
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G |
Mxra8 |
matrix remodeling associated 8 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636
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G |
Nadk |
NAD kinase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322
|
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G |
Noc2l |
NOC2-like nucleolar associated transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,820,075...166,831,951
Ensembl chr 5:166,820,161...166,831,949
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G |
Pank4 |
pantothenate kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135
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G |
Perm1 |
PPARGC1 and ESRR induced regulator, muscle 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,800,030...166,805,323
Ensembl chr 5:166,800,030...166,805,323
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G |
Pex10 |
peroxisomal biogenesis factor 10 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
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G |
Plch2 |
phospholipase C, eta 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356
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G |
Plekhn1 |
pleckstrin homology domain containing N1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,805,309...166,813,339
Ensembl chr 5:166,804,837...166,813,155
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G |
Prdm16 |
PR/SET domain 16 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
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G |
Prkcz |
protein kinase C, zeta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
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G |
Prxl2b |
peroxiredoxin like 2B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 5:165,462,610...165,465,213
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G |
Pusl1 |
pseudouridine synthase like 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,496,755...166,500,611
Ensembl chr 5:166,496,755...166,500,611
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G |
Rer1 |
retention in endoplasmic reticulum sorting receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750
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G |
Rnf223 |
ring finger protein 223 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,720,408...166,726,236
Ensembl chr 5:166,724,984...166,725,751
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G |
Samd11 |
sterile alpha motif domain containing 11 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,831,663...166,859,805
Ensembl chr 5:166,831,663...166,850,009
|
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G |
Sdf4 |
stromal cell derived factor 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521
|
|
G |
Ski |
Ski proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
|
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G |
Slc35e2b |
solute carrier family 35, member E2B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021
|
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G |
Smim1 |
small integral membrane protein 1 (Vel blood group) |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:164,579,327...164,584,650
|
|
G |
Ssu72 |
SSU72 homolog, RNA polymerase II CTD phosphatase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429
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|
G |
Tas1r3 |
taste 1 receptor member 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,469,589...166,472,742
Ensembl chr 5:166,469,589...166,472,742
|
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G |
Tmem240 |
transmembrane protein 240 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636
|
|
G |
Tmem52 |
transmembrane protein 52 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:166,048,667...166,050,423
Ensembl chr 5:166,046,565...166,050,433
|
|
G |
Tmem88b |
transmembrane protein 88B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904
|
|
G |
Tnfrsf14 |
TNF receptor superfamily member 14 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703
|
|
G |
Tnfrsf18 |
TNF receptor superfamily member 18 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
|
|
G |
Tnfrsf4 |
TNF receptor superfamily member 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
|
|
G |
Tp73 |
tumor protein p73 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
|
|
G |
Tprg1l |
tumor protein p63 regulated 1-like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
|
NCBI chr 5:164,722,151...164,725,358
Ensembl chr 5:164,710,285...164,725,425
|
|
G |
Ttc34 |
tetratricopeptide repeat domain 34 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857
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G |
Ttll10 |
tubulin tyrosine ligase like 10 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707
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G |
Ube2j2 |
ubiquitin-conjugating enzyme E2, J2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804
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G |
Vwa1 |
von Willebrand factor A domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637
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G |
Wrap73 |
WD repeat containing, antisense to TP73 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome |
ClinVar |
|
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NCBI chr 5:164,706,112...164,721,645
Ensembl chr 5:164,706,163...164,721,643
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G |
Acp6 |
acid phosphatase 6, lysophosphatidic |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome |
ClinVar |
|
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NCBI chr 2:184,711,975...184,733,067
Ensembl chr 2:184,711,619...184,733,017
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G |
Bcl9 |
BCL9, transcription coactivator |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome |
ClinVar |
|
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NCBI chr 2:184,760,616...184,846,261
Ensembl chr 2:184,760,618...184,786,435
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G |
Chd1l |
chromodomain helicase DNA binding protein 1-like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome |
ClinVar |
|
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NCBI chr 2:185,138,526...185,217,498
Ensembl chr 2:185,139,308...185,217,595
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G |
Fmo5 |
flavin containing dimethylaniline monoxygenase 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome |
ClinVar |
|
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NCBI chr 2:185,197,184...185,249,699
Ensembl chr 2:185,222,204...185,249,693
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G |
Gja5 |
gap junction protein, alpha 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome |
CTD ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:184,602,407...184,621,952
Ensembl chr 2:184,564,475...184,621,952
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G |
Gja8 |
gap junction protein, alpha 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: 1q21.1 Deletion | ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome |
CTD ClinVar |
PMID:25741868 PMID:26694549 PMID:28492532 |
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NCBI chr 2:184,490,840...184,492,456
Ensembl chr 2:184,490,840...184,492,456
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G |
Gpr89b |
G protein-coupled receptor 89B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome |
ClinVar |
|
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NCBI chr 2:184,408,136...184,445,560
Ensembl chr 2:184,401,438...184,445,584
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G |
Prkab2 |
protein kinase AMP-activated non-catalytic subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 1q21.1 deletion syndrome |
ClinVar |
|
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NCBI chr 2:185,257,218...185,272,846
Ensembl chr 2:185,257,213...185,269,872
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G |
Tp53bp2 |
tumor protein p53 binding protein, 2 |
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ISS |
OMIM:612530 |
MouseDO |
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NCBI chr13:94,088,769...94,145,436
Ensembl chr13:94,088,709...94,145,432
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G |
Aifm3 |
apoptosis inducing factor, mitochondria associated 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,504,859...83,523,630
Ensembl chr11:83,504,861...83,521,248
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G |
Arvcf |
ARVCF, delta catenin family member |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,588,137...82,645,805
Ensembl chr11:82,587,881...82,645,805
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G |
Ccdc116 |
coiled-coil domain containing 116 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:25741868 PMID:31690835 |
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NCBI chr11:83,842,707...83,850,607
Ensembl chr11:83,845,557...83,850,607
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G |
Ccdc188 |
coiled-coil domain containing 188 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,769,735...82,772,062
Ensembl chr11:82,769,473...82,772,114
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G |
Cdc45 |
cell division cycle 45 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
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G |
Cldn5 |
claudin 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992
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G |
Comt |
catechol-O-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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G |
Crkl |
CRK like proto-oncogene, adaptor protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238
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G |
Dgcr2 |
DiGeorge syndrome critical region gene 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502
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G |
Dgcr8 |
DGCR8 microprocessor complex subunit |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242
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G |
Ess2 |
ess-2 splicing factor homolog |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846
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G |
Gnb1l |
G protein subunit beta 1 like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466
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G |
Gp1bb |
glycoprotein Ib platelet subunit beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
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G |
Gsc2 |
goosecoid homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126
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G |
Hic2 |
HIC ZBTB transcriptional repressor 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:25741868 |
|
NCBI chr11:83,737,075...83,789,554
Ensembl chr11:83,738,874...83,767,484
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G |
Hira |
histone cell cycle regulator |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529
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G |
Klhl22 |
kelch-like family member 22 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,190,891...83,231,746
Ensembl chr11:83,190,891...83,231,770
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G |
LOC120095775 |
small nucleolar RNA SNORA77 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,749,967...82,750,091
Ensembl chr11:82,749,967...82,750,091
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G |
LOC498122 |
similar to CG15908-PA |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235
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|
G |
Lrrc74b |
leucine rich repeat containing 74B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,450,588...83,468,906
Ensembl chr11:83,450,624...83,468,922
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G |
Lztr1 |
leucine-zipper-like transcription regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
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G |
Mapk1 |
mitogen activated protein kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:25741868 PMID:31690835 |
|
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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G |
Med15 |
mediator complex subunit 15 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362
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G |
Mir1306 |
microRNA 1306 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,709,651...82,709,723
Ensembl chr11:82,709,637...82,709,719
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G |
Mir130b |
microRNA 130b |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:25741868 PMID:31690835 |
|
NCBI chr11:83,880,163...83,880,244
Ensembl chr11:83,880,163...83,880,244
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G |
Mir185 |
microRNA 185 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795
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G |
Mrpl40 |
mitochondrial ribosomal protein L40 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233
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G |
P2rx6 |
purinergic receptor P2X 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,439,922...83,450,449
Ensembl chr11:83,439,924...83,450,481
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G |
Pi4ka |
phosphatidylinositol 4-kinase alpha |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,609,136...83,726,876
Ensembl chr11:83,609,069...83,724,080
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|
G |
Ppil2 |
peptidylprolyl isomerase like 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:25741868 PMID:31690835 |
|
NCBI chr11:83,897,719...83,920,970
Ensembl chr11:83,897,764...83,922,144
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G |
Ppm1f |
protein phosphatase, Mg2+/Mn2+ dependent, 1F |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:25741868 PMID:31690835 |
|
NCBI chr11:84,064,422...84,094,410
Ensembl chr11:84,064,420...84,094,340
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|
G |
Prame |
PRAME nuclear receptor transcriptional regulator |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:25741868 PMID:31690835 |
|
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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G |
Ranbp1 |
RAN binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838
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G |
Rimbp3 |
RIMS binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:25741868 PMID:31690835 |
|
NCBI chr11:83,783,816...83,789,391
Ensembl chr11:83,784,244...83,789,082
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G |
Rtn4r |
reticulon 4 receptor |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,844,585...82,869,012
Ensembl chr11:82,844,309...82,869,466
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G |
Scarf2 |
scavenger receptor class F, member 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348
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G |
Sdf2l1 |
stromal cell-derived factor 2-like 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:25741868 PMID:31690835 |
|
NCBI chr11:83,872,659...83,874,902
Ensembl chr11:83,872,659...83,874,902
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G |
Septin5 |
septin 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393
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G |
Serpind1 |
serpin family D member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519
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G |
Slc25a1 |
solute carrier family 25 member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781
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G |
Slc7a4 |
solute carrier family 7, member 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,435,093...83,439,078
Ensembl chr11:83,435,211...83,438,881
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G |
Snap29 |
synaptosome associated protein 29 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958
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G |
Tango2 |
transport and golgi organization 2 homolog |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
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G |
Tbx1 |
T-box transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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G |
Thap7 |
THAP domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,482,958...83,486,136
Ensembl chr11:83,483,037...83,486,436
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G |
Tmem191c |
transmembrane protein 191C |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:25741868 PMID:31690835 |
|
NCBI chr11:83,726,155...83,728,926
Ensembl chr11:83,725,185...83,730,172
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G |
Top3b |
DNA topoisomerase III beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:25741868 PMID:31690835 |
|
NCBI chr11:84,097,018...84,125,474
Ensembl chr11:84,097,026...84,125,392
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|
G |
Trmt2a |
tRNA methyltransferase 2 homolog A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,737,689...82,742,423
Ensembl chr11:82,737,689...82,742,336
|
|
G |
Tssk2 |
testis-specific serine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:83,086,578...83,087,933
|
|
G |
Txnrd2 |
thioredoxin reductase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
|
|
G |
Ube2l3 |
ubiquitin-conjugating enzyme E2L 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:25741868 PMID:31690835 |
|
NCBI chr11:83,797,722...83,838,862
Ensembl chr11:83,797,722...83,838,862
|
|
G |
Ufd1 |
ubiquitin recognition factor in ER associated degradation 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087
|
|
G |
Vpreb1a |
V-set pre-B cell surrogate light chain 1A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:25741868 PMID:31690835 |
|
NCBI chr11:84,126,969...84,127,846
Ensembl chr11:84,126,969...84,127,846
|
|
G |
Ydjc |
YdjC chitooligosaccharide deacetylase homolog |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:25741868 PMID:31690835 |
|
NCBI chr11:83,832,177...83,844,691
Ensembl chr11:83,841,306...83,846,336
|
|
G |
Ypel1 |
yippee-like 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:25741868 PMID:31690835 |
|
NCBI chr11:83,921,799...83,936,409
|
|
G |
Zdhhc8 |
zinc finger DHHC-type palmitoyltransferase 8 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
|
NCBI chr11:82,755,110...82,769,280
Ensembl chr11:82,755,143...82,767,734
|
|
G |
Zfp280b |
zinc finger protein 280B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:21681106 PMID:25741868 PMID:31690835 |
|
NCBI chr20:12,627,101...12,641,943
Ensembl chr20:12,627,106...12,646,683
|
|
G |
Zim1 |
zinc finger, imprinted 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal |
ClinVar |
PMID:31690835 |
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NCBI chr 1:67,132,076...67,157,843
Ensembl chr 1:67,132,147...67,153,761
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G |
Aifm3 |
apoptosis inducing factor, mitochondria associated 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:83,504,859...83,523,630
Ensembl chr11:83,504,861...83,521,248
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G |
Arvcf |
ARVCF, delta catenin family member |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:82,588,137...82,645,805
Ensembl chr11:82,587,881...82,645,805
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G |
Ccdc188 |
coiled-coil domain containing 188 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:82,769,735...82,772,062
Ensembl chr11:82,769,473...82,772,114
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G |
Cdc45 |
cell division cycle 45 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
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G |
Cldn5 |
claudin 5 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992
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G |
Comt |
catechol-O-methyltransferase |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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G |
Crkl |
CRK like proto-oncogene, adaptor protein |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238
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G |
Dgcr2 |
DiGeorge syndrome critical region gene 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502
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G |
Dgcr8 |
DGCR8 microprocessor complex subunit |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242
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G |
Ess2 |
ess-2 splicing factor homolog |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846
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G |
Gnb1l |
G protein subunit beta 1 like |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466
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G |
Gp1bb |
glycoprotein Ib platelet subunit beta |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
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G |
Gsc2 |
goosecoid homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126
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G |
Hira |
histone cell cycle regulator |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529
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G |
Klhl22 |
kelch-like family member 22 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:83,190,891...83,231,746
Ensembl chr11:83,190,891...83,231,770
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G |
LOC120095775 |
small nucleolar RNA SNORA77 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:82,749,967...82,750,091
Ensembl chr11:82,749,967...82,750,091
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G |
LOC498122 |
similar to CG15908-PA |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235
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G |
Lrrc74b |
leucine rich repeat containing 74B |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:83,450,588...83,468,906
Ensembl chr11:83,450,624...83,468,922
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G |
Lztr1 |
leucine-zipper-like transcription regulator 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
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G |
Med15 |
mediator complex subunit 15 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362
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G |
Mir1306 |
microRNA 1306 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:82,709,651...82,709,723
Ensembl chr11:82,709,637...82,709,719
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G |
Mir185 |
microRNA 185 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795
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G |
Mrpl40 |
mitochondrial ribosomal protein L40 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233
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G |
P2rx6 |
purinergic receptor P2X 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:83,439,922...83,450,449
Ensembl chr11:83,439,924...83,450,481
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G |
Pi4ka |
phosphatidylinositol 4-kinase alpha |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:83,609,136...83,726,876
Ensembl chr11:83,609,069...83,724,080
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G |
Ranbp1 |
RAN binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838
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G |
Rtn4r |
reticulon 4 receptor |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:82,844,585...82,869,012
Ensembl chr11:82,844,309...82,869,466
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G |
Scarf2 |
scavenger receptor class F, member 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348
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G |
Septin5 |
septin 5 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393
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G |
Serpind1 |
serpin family D member 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519
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G |
Slc25a1 |
solute carrier family 25 member 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781
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G |
Slc7a4 |
solute carrier family 7, member 4 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:83,435,093...83,439,078
Ensembl chr11:83,435,211...83,438,881
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G |
Snap29 |
synaptosome associated protein 29 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958
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G |
Tango2 |
transport and golgi organization 2 homolog |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
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G |
Tbx1 |
T-box transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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G |
Thap7 |
THAP domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr11:83,482,958...83,486,136
Ensembl chr11:83,483,037...83,486,436
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