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G |
AURKA |
aurora kinase A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24976383 |
|
NCBI chr20:52,707,757...52,730,579
Ensembl chr20:53,994,881...54,017,339
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G |
BUB1B |
BUB1 mitotic checkpoint serine/threonine kinase B |
susceptibility |
ISO |
DNA:missense mutation: ; mosaic variegated aneuploidy syndrome, OMIM:257300 |
RGD |
PMID:15475955 |
RGD:1600540 |
NCBI chr15:19,095,383...19,155,557
Ensembl chr15:37,350,826...37,410,648
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G |
CKAP5 |
cytoskeleton associated protein 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24976383 |
|
NCBI chr11:46,694,967...46,797,500
Ensembl chr11:47,252,752...47,329,274
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G |
KIF11 |
kinesin family member 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17974955 |
|
NCBI chr10:89,339,254...89,401,188
Ensembl chr10:92,852,786...92,914,440
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G |
TLX1 |
T cell leukemia homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20972433 |
|
NCBI chr10:97,731,715...97,738,978
Ensembl chr10:101,207,374...101,214,625
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G |
TRIP13 |
thyroid hormone receptor interactor 13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28553959 |
|
|
|
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G |
ALDOA |
aldolase, fructose-bisphosphate A |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
|
|
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G |
ASPHD1 |
aspartate beta-hydroxylase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,268,390...30,273,581
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G |
ATP2A1 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
|
Ensembl chr16:29,265,516...29,290,807 Ensembl chr16:29,265,516...29,290,807
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G |
ATXN2L |
ataxin 2 like |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
|
Ensembl chr16:29,209,115...29,226,239
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G |
BOLA2B |
bolA family member 2B |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
|
|
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G |
C16H16orf54 |
chromosome 16 C16orf54 homolog |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,117,052...30,117,726
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|
G |
C16H16orf92 |
chromosome 16 C16orf92 homolog |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,398,743...30,399,615
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G |
CD19 |
CD19 molecule |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
|
Ensembl chr16:29,320,734...29,327,481
|
|
G |
CDIPT |
CDP-diacylglycerol--inositol 3-phosphatidyltransferase |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,227,772...30,233,145
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G |
CORO1A |
coronin 1A |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,550,383...30,556,196
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G |
DOC2A |
double C2 domain alpha |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,378,922...30,384,142
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G |
GDPD3 |
glycerophosphodiester phosphodiesterase domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,479,684...30,488,868
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G |
HIRIP3 |
HIRA interacting protein 3 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,365,725...30,369,486
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G |
INO80E |
INO80 complex subunit E |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,369,610...30,379,198
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G |
KCTD13 |
potassium channel tetramerization domain containing 13 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
|
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G |
KIF22 |
kinesin family member 22 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,161,702...30,177,170
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G |
LAT |
linker for activation of T cells |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
|
|
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G |
LOC100995352 |
keratin-associated protein 10-2 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 |
|
|
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G |
LOC103783265 |
pulmonary surfactant-associated protein A1 |
|
ISO |
ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 |
|
NCBI chr10:76,571,312...76,575,820
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|
G |
MAPK3 |
mitogen-activated protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,489,362...30,498,017
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|
G |
MAZ |
MYC associated zinc finger protein |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,049,806...30,070,469
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G |
MVP |
major vault protein |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,190,090...30,219,070
|
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G |
MVP-DT |
MVP divergent transcript |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 |
|
|
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G |
NFATC2IP |
nuclear factor of activated T cells 2 interacting protein |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
|
|
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G |
PAGR1 |
PAXIP1 associated glutamate rich protein 1 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,186,326...30,190,654
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|
G |
PPP4C |
protein phosphatase 4 catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,450,467...30,464,446
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|
G |
PRRT2 |
proline rich transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,183,352...30,187,862
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|
G |
QPRT |
quinolinate phosphoribosyltransferase |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,049,806...30,070,469
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|
G |
RABEP2 |
rabaptin, RAB GTPase binding effector protein 2 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
|
Ensembl chr16:29,289,949...29,314,177
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G |
SEZ6L2 |
seizure related 6 homolog like 2 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,240,276...30,267,689
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|
G |
SH2B1 |
SH2B adaptor protein 1 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
|
Ensembl chr16:29,249,597...29,263,334
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G |
SLX1A |
SLX1 homolog A, structure-specific endonuclease subunit |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
|
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G |
SPN |
sialophorin |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,035,243...30,036,445
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|
G |
SPNS1 |
SPNS lysolipid transporter 1, lysophospholipid |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
|
|
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G |
SULT1A3 |
sulfotransferase family 1A member 3 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
|
|
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G |
TAOK2 |
TAO kinase 2 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,347,229...30,366,743
|
|
G |
TBX6 |
T-box transcription factor 6 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,460,305...30,467,070
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|
G |
TLCD3B |
TLC domain containing 3B |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,399,815...30,406,663
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|
G |
TMEM219 |
transmembrane protein 219 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,327,890...30,346,316
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|
G |
TUFM |
Tu translation elongation factor, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
|
Ensembl chr16:29,227,852...29,233,513
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G |
YPEL3 |
yippee like 3 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,467,490...30,471,256
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G |
ZG16 |
zymogen granule protein 16 |
|
ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,149,307...30,151,579
|
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G |
ACSF3 |
acyl-CoA synthetase family member 3 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr16:69,842,709...69,907,075
Ensembl chr16:89,467,997...89,523,825
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G |
ANKRD11 |
ankyrin repeat domain containing 11 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
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NCBI chr16:69,994,926...70,242,659
Ensembl chr16:89,633,849...89,683,311
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G |
APRT |
adenine phosphoribosyltransferase |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr16:69,522,628...69,525,138
Ensembl chr16:89,179,020...89,181,504
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G |
BANP |
BTG3 associated nuclear protein |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
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NCBI chr16:68,626,638...68,753,293
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G |
C16H16orf95 |
chromosome 16 C16orf95 homolog |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr16:67,973,069...67,987,773
Ensembl chr16:87,298,076...87,312,629
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G |
CA5A |
carbonic anhydrase 5A |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
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NCBI chr16:68,564,400...68,618,614
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G |
CBFA2T3 |
CBFA2/RUNX1 partner transcriptional co-repressor 3 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr16:69,592,293...69,662,321
Ensembl chr16:89,246,545...89,347,435
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G |
CDH15 |
cadherin 15 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
Ensembl chr16:89,543,888...89,562,843
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G |
CDT1 |
chromatin licensing and DNA replication factor 1 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr16:69,516,728...69,522,419
Ensembl chr16:89,174,071...89,177,823
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G |
CPNE7 |
copine 7 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr16:70,327,952...70,349,898
Ensembl chr16:89,936,172...89,955,115
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G |
CTU2 |
cytosolic thiouridylase subunit 2 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr16:69,419,811...69,428,500
Ensembl chr16:89,079,132...89,088,231
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G |
FBXO31 |
F-box protein 31 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr16:67,997,481...68,053,081
Ensembl chr16:87,322,364...87,377,104
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G |
GALNS |
galactosamine (N-acetyl)-6-sulfatase |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr16:69,557,956...69,571,421
Ensembl chr16:89,183,950...89,217,036
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|
G |
IL17C |
interleukin 17C |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr16:69,347,233...69,353,562
Ensembl chr16:89,011,688...89,013,678
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G |
JPH3 |
junctophilin 3 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr16:68,276,459...68,379,909
Ensembl chr16:87,596,814...87,700,235
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G |
KLHDC4 |
kelch domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr16:68,384,552...68,448,167
Ensembl chr16:87,702,744...87,764,605
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|
G |
LOC100986914 |
cytochrome b-245 light chain |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr16:69,356,396...69,364,225
Ensembl chr16:89,016,349...89,024,719
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|
G |
MAP1LC3B |
microtubule associated protein 1 light chain 3 beta |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr16:68,063,869...68,076,772
|
|
G |
MVD |
mevalonate diphosphate decarboxylase |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr16:69,365,070...69,376,149
Ensembl chr16:89,025,572...89,036,964
|
|
G |
PABPN1L |
PABPN1 like, cytoplasmic |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr16:69,579,421...69,583,803
Ensembl chr16:89,234,156...89,237,595
|
|
G |
PIEZO1 |
piezo type mechanosensitive ion channel component 1 (Er blood group) |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr16:69,428,461...69,498,454
Ensembl chr16:89,088,323...89,125,068
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|
G |
RNF166 |
ring finger protein 166 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr16:69,409,777...69,419,761
|
|
G |
RPL13 |
ribosomal protein L13 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr16:70,312,241...70,314,956
|
|
G |
SLC22A31 |
solute carrier family 22 member 31 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
|
|
G |
SLC7A5 |
solute carrier family 7 member 5 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr16:68,512,407...68,552,763
|
|
G |
SNAI3 |
snail family transcriptional repressor 3 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr16:69,390,929...69,400,971
Ensembl chr16:89,051,479...89,059,704
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|
G |
TRAPPC2L |
trafficking protein particle complex subunit 2L |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
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NCBI chr16:69,571,438...69,575,556
Ensembl chr16:89,226,220...89,231,854
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G |
ZC3H18 |
zinc finger CCCH-type containing 18 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
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NCBI chr16:69,282,652...69,345,077
Ensembl chr16:88,944,517...89,005,199
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G |
ZCCHC14 |
zinc finger CCHC-type containing 14 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr16:68,078,237...68,165,406
Ensembl chr16:87,401,184...87,486,124
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G |
ZFPM1 |
zinc finger protein, FOG family member 1 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr16:69,164,299...69,246,136
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G |
ZNF469 |
zinc finger protein 469 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr16:68,777,496...69,151,995
Ensembl chr16:88,803,202...88,815,390
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G |
ZNF778 |
zinc finger protein 778 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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G |
ABL2 |
ABL proto-oncogene 2, non-receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr 1:154,586,423...154,711,621
Ensembl chr 1:158,280,994...158,313,915
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G |
ACBD6 |
acyl-CoA binding domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr 1:155,774,799...155,988,767
Ensembl chr 1:159,448,023...159,661,741
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G |
ANGPTL1 |
angiopoietin like 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr 1:154,339,139...154,360,540
Ensembl chr 1:158,030,657...158,052,089
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G |
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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NCBI chr 1:149,127,108...149,232,776
Ensembl chr 1:152,832,935...152,892,971
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G |
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 chr 1:152,385,103...152,688,885
Ensembl chr 1:156,085,398...156,284,771
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G |
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 chr 1:144,592,667...144,621,052
Ensembl chr 1:148,314,793...148,342,050
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G |
AXDND1 |
axonemal dynein light chain domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr 1:154,847,978...155,043,339
Ensembl chr 1:158,536,967...158,724,251
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G |
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 chr 1:144,850,261...144,870,672
Ensembl chr 1:148,572,418...148,592,827
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G |
BRINP2 |
BMP/retinoic acid inducible neural specific 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr 1:152,694,667...152,806,085
Ensembl chr 1:156,450,411...156,502,742
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G |
C1H1orf105 |
chromosome 1 C1orf105 homolog |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 1:147,942,148...147,966,867
Ensembl chr 1:151,628,511...151,676,565
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G |
CACNA1E |
calcium voltage-gated channel subunit alpha1 E |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr 1:156,796,855...157,296,987
Ensembl chr 1:160,628,089...160,949,270
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G |
CACYBP |
calcyclin binding protein |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
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NCBI chr 1:150,511,021...150,522,369
Ensembl chr 1:154,210,001...154,220,583
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G |
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 chr 1:144,877,237...144,943,380
Ensembl chr 1:148,599,559...148,632,247
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G |
CENPL |
centromere protein L |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
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NCBI chr 1:149,317,149...149,342,267
Ensembl chr 1:153,020,837...153,045,866
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G |
CEP350 |
centrosomal protein 350 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr 1:155,436,014...155,601,800
Ensembl chr 1:159,147,376...159,271,848
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G |
COP1 |
COP1 E3 ubiquitin ligase |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr 1:151,459,354...151,727,131
Ensembl chr 1:155,156,185...155,425,156
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G |
DARS2 |
aspartyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
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NCBI chr 1:149,342,301...149,375,979
Ensembl chr 1:153,045,886...153,080,461
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G |
DHX9 |
DExH-box helicase 9 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr 1:158,355,472...158,404,178
Ensembl chr 1:162,006,822...162,055,833
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G |
DNM3 |
dynamin 3 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 1:147,339,773...147,916,513
Ensembl chr 1:151,049,346...151,615,808
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G |
F5 |
coagulation factor V |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 1:144,996,757...145,070,046
Ensembl chr 1:148,718,897...148,790,915
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G |
FAM163A |
family with sequence similarity 163 member A |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
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NCBI chr 1:155,223,640...155,297,354
Ensembl chr 1:158,974,145...158,977,214
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G |
FAM20B |
FAM20B glycosaminoglycan xylosylkinase |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:154,510,050...154,558,868
Ensembl chr 1:158,217,079...158,249,897
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G |
FASLG |
Fas ligand |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281
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G |
FIRRM |
FIGNL1 interacting regulator of recombination and mitosis |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:145,277,657...145,340,329
Ensembl chr 1:148,999,127...149,057,553
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G |
FMO1 |
flavin containing dimethylaniline monoxygenase 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:146,742,505...146,778,560
Ensembl chr 1:150,456,729...150,492,527
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G |
FMO2 |
flavin containing dimethylaniline monoxygenase 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:146,678,858...146,704,831
Ensembl chr 1:150,393,061...150,417,295
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G |
FMO3 |
flavin containing dimethylaniline monoxygenase 3 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:146,583,570...146,611,720
Ensembl chr 1:150,298,957...150,325,850
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G |
FMO4 |
flavin containing dimethylaniline monoxygenase 4 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:146,806,413...146,834,315
Ensembl chr 1:150,520,375...150,548,270
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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 chr 1:157,882,258...157,891,562
Ensembl chr 1:161,534,106...161,543,411
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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 chr 1:146,020,446...146,042,334
Ensembl chr 1:149,736,641...149,758,010
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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 chr 1:149,954,556...149,959,653
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G |
IER5 |
immediate early response 5 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:156,565,169...156,569,648
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G |
KIAA1614 |
KIAA1614 ortholog |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:156,389,268...156,428,773
Ensembl chr 1:160,061,085...160,090,396
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G |
KIFAP3 |
kinesin associated protein 3 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:145,410,755...145,564,248
Ensembl chr 1:149,127,548...149,280,831
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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 |
|
NCBI chr 1:149,232,858...149,303,357
Ensembl chr 1:152,937,835...153,008,239
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G |
LAMC1 |
laminin subunit gamma 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:158,541,635...158,663,836
Ensembl chr 1:162,700,704...162,822,534
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G |
LAMC2 |
laminin subunit gamma 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:158,697,084...158,763,209
Ensembl chr 1:162,862,785...162,921,864
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G |
LHX4 |
LIM homeobox 4 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:155,716,853...155,765,419
Ensembl chr 1:159,390,105...159,438,802
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G |
LOC100972084 |
major histocompatibility complex class I-related gene protein |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:156,510,588...156,538,447
Ensembl chr 1:160,178,106...160,198,420
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G |
LOC100980580 |
uncharacterized protein KIAA0040 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 1:150,669,479...150,705,474
Ensembl chr 1:154,370,708...154,371,004
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G |
LOC100995923 |
torsin-1A-interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:155,321,181...155,358,966
Ensembl chr 1:159,005,944...159,039,058
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G |
METTL13 |
methyltransferase 13, eEF1A N-terminus and K55 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:147,279,795...147,295,884
Ensembl chr 1:150,986,851...151,005,571
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G |
METTL18 |
methyltransferase 18, RPL3 N3(tau)-histidine |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:145,275,161...145,277,751
Ensembl chr 1:148,996,597...148,997,715
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G |
MROH9 |
maestro heat like repeat family member 9 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:146,425,586...146,557,901
Ensembl chr 1:150,141,104...150,273,143
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G |
MRPS14 |
mitochondrial ribosomal protein S14 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 1:150,524,532...150,535,053
Ensembl chr 1:154,222,744...154,233,292
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G |
MYOC |
myocilin |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:147,128,541...147,146,227
Ensembl chr 1:150,841,630...150,858,628
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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 chr 1:159,085,923...159,121,259
Ensembl chr 1:163,243,636...163,278,420
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G |
NME7 |
NME/NM23 family member 7 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:144,620,719...144,850,230
Ensembl chr 1:148,343,026...148,572,499
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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 chr 1:158,768,949...158,948,711
Ensembl chr 1:162,929,609...163,105,524
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G |
NPHS2 |
NPHS2 stomatin family member, podocin |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:155,038,753...155,064,332
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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 chr 1:158,305,203...158,346,531
Ensembl chr 1:161,958,896...161,997,222
|
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G |
NTMT2 |
N-terminal Xaa-Pro-Lys N-methyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:145,635,789...145,658,564
Ensembl chr 1:149,352,738...149,374,488
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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 chr 1:151,727,598...152,369,670
Ensembl chr 1:155,769,395...156,063,989
|
|
G |
PIGC |
phosphatidylinositol glycan anchor biosynthesis class C |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:147,891,867...147,942,057
Ensembl chr 1:151,649,468...151,650,361
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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 chr 1:148,988,836...149,000,345
|
|
G |
PRRC2C |
proline rich coiled-coil 2C |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:146,979,651...147,089,506
Ensembl chr 1:150,693,780...150,801,477
|
|
G |
PRRX1 |
paired related homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:146,151,633...146,227,926
Ensembl chr 1:149,867,634...149,943,810
|
|
G |
QSOX1 |
quiescin sulfhydryl oxidase 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:155,641,793...155,687,231
Ensembl chr 1:159,313,245...159,358,672
|
|
G |
RABGAP1L |
RAB GTPase activating protein 1 like |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 1:149,676,356...150,506,884
Ensembl chr 1:153,437,265...154,199,810
|
|
G |
RALGPS2 |
Ral GEF with PH domain and SH3 binding motif 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:154,224,362...154,411,202
Ensembl chr 1:157,916,856...158,097,550
|
|
G |
RASAL2 |
RAS protein activator like 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:153,609,277...153,986,155
Ensembl chr 1:157,303,646...157,670,415
|
|
G |
RC3H1 |
ring finger and CCCH-type domains 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 1:149,454,748...149,539,566
Ensembl chr 1:153,160,661...153,213,402
|
|
G |
RGS16 |
regulator of G protein signaling 16 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:158,117,257...158,123,031
Ensembl chr 1:161,765,595...161,774,709
|
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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 chr 1:158,160,368...158,268,521
Ensembl chr 1:161,813,540...161,855,027
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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 chr 1:157,967,552...158,079,341
Ensembl chr 1:161,619,801...161,730,852
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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 chr 1:158,092,346...158,108,026
Ensembl chr 1:161,741,645...161,760,045
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G |
SCYL3 |
SCY1 like pseudokinase 3 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:145,299,266...145,383,511
Ensembl chr 1:149,057,194...149,095,445
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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 chr 1:153,445,298...153,555,082
Ensembl chr 1:157,139,709...157,179,830
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G |
SELE |
selectin E |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:145,205,684...145,217,143
Ensembl chr 1:148,930,437...148,938,313
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G |
SELL |
selectin L |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:145,173,700...145,194,927
Ensembl chr 1:148,895,373...148,916,393
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G |
SELP |
selectin P |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:145,071,094...145,112,851
Ensembl chr 1:148,793,677...148,834,701
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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 chr 1:149,421,737...149,435,301
Ensembl chr 1:153,126,031...153,139,369
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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 chr 1:158,416,397...158,470,003
Ensembl chr 1:162,067,996...162,629,927
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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 chr 1:144,946,248...144,968,736
Ensembl chr 1:148,668,687...148,690,713
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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 chr 1:149,012,063...149,127,843
Ensembl chr 1:152,718,175...152,826,534
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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 chr 1:159,002,363...159,084,572
Ensembl chr 1:163,159,362...163,242,285
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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 chr 1:154,776,305...154,840,594
Ensembl chr 1:158,464,886...158,524,909
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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 chr 1:156,450,202...156,500,143
Ensembl chr 1:160,117,825...160,167,314
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|
G |
SUCO |
SUN domain containing ossification factor |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:148,030,922...148,112,755
Ensembl chr 1:151,739,934...151,821,285
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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 chr 1:155,080,083...155,171,734
Ensembl chr 1:158,761,013...158,852,660
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|
G |
TEDDM1 |
transmembrane epididymal protein 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:157,897,568...157,917,608
Ensembl chr 1:161,550,771...161,569,394
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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 chr 1:154,017,637...154,036,483
Ensembl chr 1:157,710,118...157,720,659
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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 chr 1:148,684,689...148,989,775
Ensembl chr 1:152,391,450...152,415,845 Ensembl chr 1:152,391,450...152,415,845
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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 chr 1:150,580,248...150,661,687
Ensembl chr 1:154,278,714...154,357,823
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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 chr 1:150,826,892...151,257,301
Ensembl chr 1:154,532,582...154,615,538
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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 chr 1:155,362,806...155,401,185
Ensembl chr 1:159,043,072...159,081,408
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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 chr 1:154,563,795...154,578,339
Ensembl chr 1:158,255,410...158,271,166
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|
G |
VAMP4 |
vesicle associated membrane protein 4 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 1:147,192,001...147,233,945
Ensembl chr 1:150,903,134...150,944,815
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|
G |
XPR1 |
xenotropic and polytropic retrovirus receptor 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:156,121,029...156,367,565
Ensembl chr 1:159,790,170...160,029,208
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|
G |
ZBTB37 |
zinc finger and BTB domain containing 37 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 1:149,386,001...149,406,436
Ensembl chr 1:153,090,898...153,109,767
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|
G |
ZNF648 |
zinc finger protein 648 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 1:157,546,709...157,560,498
Ensembl chr 1:161,208,135...161,209,841
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|
|
G |
FGF8 |
fibroblast growth factor 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12223415 |
|
NCBI chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916
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G |
SIX1 |
SIX homeobox 1 |
|
ISO |
|
RGD |
PMID:21364285 |
RGD:11561941 |
NCBI chr14:41,250,512...41,256,567
Ensembl chr14:59,515,324...59,527,494
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|
G |
TBX1 |
T-box transcription factor 1 |
|
ISO |
|
RGD |
PMID:16452092 |
RGD:155663362 |
NCBI chr22:2,521,080...2,541,267
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|
|
G |
ANKRD28 |
ankyrin repeat domain 28 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:15,591,890...15,785,997
Ensembl chr 3:15,932,020...16,057,647
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G |
BTD |
biotinidase |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:15,526,339...15,575,475
Ensembl chr 3:15,863,489...15,907,497
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G |
C3H3orf20 |
chromosome 3 C3orf20 homolog |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:14,600,078...14,695,130
Ensembl chr 3:14,936,746...15,034,701
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G |
CAPN7 |
calpain 7 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:15,131,774...15,177,836
Ensembl chr 3:15,468,890...15,515,528
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|
G |
CCDC174 |
coiled-coil domain containing 174 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:14,574,082...14,595,025
Ensembl chr 3:14,913,328...14,934,261
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|
G |
CHCHD4 |
coiled-coil-helix-coiled-coil-helix domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:14,030,410...14,043,233
Ensembl chr 3:14,370,854...14,383,660
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G |
COLQ |
collagen like tail subunit of asymmetric acetylcholinesterase |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:15,373,589...15,447,613
Ensembl chr 3:15,712,630...15,784,299
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G |
DAZL |
deleted in azoospermia like |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:16,514,327...16,625,601
Ensembl chr 3:16,851,158...16,862,963
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|
G |
DPH3 |
diphthamide biosynthesis 3 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:16,183,158...16,190,184
Ensembl chr 3:16,520,076...16,527,196
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G |
EAF1 |
ELL associated factor 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:15,353,459...15,368,579
Ensembl chr 3:15,689,745...15,705,300
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G |
EFHB |
EF-hand domain family member B |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:19,798,204...19,855,338
Ensembl chr 3:20,128,668...20,184,718
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G |
FBLN2 |
fibulin 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:13,469,679...13,558,241
Ensembl chr 3:13,812,462...13,900,332
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G |
FGD5 |
FYVE, RhoGEF and PH domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:14,732,712...14,856,251
Ensembl chr 3:15,072,214...15,195,608
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G |
GALNT15 |
polypeptide N-acetylgalactosaminyltransferase 15 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:16,099,794...16,152,941
Ensembl chr 3:16,436,838...16,494,038
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G |
GRIP2 |
glutamate receptor interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:14,411,825...14,525,388
Ensembl chr 3:14,756,638...14,804,952
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G |
HACL1 |
2-hydroxyacyl-CoA lyase 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:15,486,897...15,526,552
Ensembl chr 3:15,823,979...15,863,982
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G |
HDAC11 |
histone deacetylase 11 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:13,400,788...13,427,010
Ensembl chr 3:13,744,475...13,769,997
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G |
KAT2B |
lysine acetyltransferase 2B |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:19,956,067...20,070,637
Ensembl chr 3:20,286,865...20,400,770
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G |
KCNH8 |
potassium voltage-gated channel subfamily H member 8 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:19,063,663...19,461,752
Ensembl chr 3:19,498,421...19,787,890
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G |
LSM3 |
LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:14,097,035...14,165,942
Ensembl chr 3:14,437,497...14,456,726
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G |
METTL6 |
methyltransferase 6, tRNA N3-cytidine |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:15,306,890...15,353,505
Ensembl chr 3:15,643,545...15,690,238
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G |
MRPS25 |
mitochondrial ribosomal protein S25 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:14,934,006...14,989,899
Ensembl chr 3:15,313,061...15,328,594
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G |
NR2C2 |
nuclear receptor subfamily 2 group C member 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:14,869,292...14,973,977
Ensembl chr 3:15,220,110...15,306,242
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G |
NUP210 |
nucleoporin 210 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:13,236,064...13,339,807
Ensembl chr 3:13,581,763...13,664,011
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G |
OXNAD1 |
oxidoreductase NAD binding domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:16,190,264...16,277,168
Ensembl chr 3:16,527,259...16,584,621
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G |
PLCL2 |
phospholipase C like 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:16,736,430...17,015,531
Ensembl chr 3:17,154,500...17,351,287
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|
G |
PP2D1 |
protein phosphatase 2C like domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:19,903,905...19,930,536
Ensembl chr 3:20,233,831...20,261,322
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G |
RAB5A |
RAB5A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:19,866,110...19,903,701
Ensembl chr 3:20,197,067...20,234,579
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G |
RBSN |
rabenosyn, RAB effector |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:14,994,647...15,023,733
Ensembl chr 3:15,333,359...15,362,361
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G |
RFTN1 |
raftlin, lipid raft linker 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:16,241,255...16,441,402
Ensembl chr 3:16,578,092...16,778,464
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G |
SATB1 |
SATB homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:18,267,819...18,368,924
Ensembl chr 3:18,602,204...18,681,211
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G |
SETD5 |
SET domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:21681106 |
|
NCBI chr 3:9,350,026...9,430,760
Ensembl chr 3:9,592,517...9,672,306
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G |
SH3BP5 |
SH3 domain binding protein 5 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:15,180,369...15,257,951
Ensembl chr 3:15,517,447...15,594,971
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G |
SLC6A6 |
solute carrier family 6 member 6 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:14,323,251...14,411,949
Ensembl chr 3:14,663,955...14,752,326
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G |
TBC1D5 |
TBC1 domain family member 5 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:17,080,589...17,664,776
Ensembl chr 3:17,416,307...17,768,132
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G |
THUMPD3 |
THUMP domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:21681106 |
|
NCBI chr 3:9,315,275...9,338,096
Ensembl chr 3:9,557,894...9,581,157
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G |
TMEM43 |
transmembrane protein 43 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:14,043,369...14,062,064
Ensembl chr 3:14,383,983...14,400,587
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G |
WNT7A |
Wnt family member 7A |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:13,733,487...13,797,189
Ensembl chr 3:14,077,839...14,138,386
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G |
XPC |
XPC complex subunit, DNA damage recognition and repair factor |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 3:14,063,499...14,097,023
Ensembl chr 3:14,403,958...14,437,377
|
|
|
G |
SOX9 |
SRY-box transcription factor 9 |
|
ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 10 |
ClinVar |
PMID:567843 PMID:6620326 PMID:22051515 PMID:25604083 |
|
NCBI chr17:66,028,737...66,034,122
|
|
|
G |
DMRT1 |
doublesex and mab-3 related transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 4 |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:650,678...778,519
Ensembl chr 9:844,366...972,656
|
|
|
G |
ZBTB18 |
zinc finger and BTB domain containing 18 |
|
ISO |
ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 22 | ClinVar Annotator: match by term: ZBTB18-Related Disorder |
OMIM ClinVar |
PMID:24193349 PMID:25741868 PMID:26740508 PMID:27598823 PMID:28135719 PMID:28283832 PMID:28492532 PMID:29158550 PMID:29573576 More...
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NCBI chr 1:219,660,496...219,669,134
Ensembl chr 1:225,042,281...225,050,259
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AASDHPPT |
aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:100,969,185...100,990,296
Ensembl chr11:104,452,913...104,474,063
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ABCG4 |
ATP binding cassette subfamily G member 4 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:113,987,709...114,001,354
Ensembl chr11:117,916,043...117,929,636
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ACAD8 |
acyl-CoA dehydrogenase family member 8 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:129,106,646...129,118,773
Ensembl chr11:132,964,071...132,976,092
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ACAT1 |
acetyl-CoA acetyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:103,008,564...103,034,697
Ensembl chr11:106,483,563...106,509,787
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ACRV1 |
acrosomal vesicle protein 1 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:120,493,328...120,502,632
Ensembl chr11:124,406,467...124,415,043
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ADAMTS15 |
ADAM metallopeptidase with thrombospondin type 1 motif 15 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:125,264,129...125,291,655
Ensembl chr11:129,154,895...129,182,326
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ADAMTS8 |
ADAM metallopeptidase with thrombospondin type 1 motif 8 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:125,220,258...125,244,841
Ensembl chr11:129,112,176...129,136,928
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ALG9 |
ALG9 alpha-1,2-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:106,659,847...106,757,451
Ensembl chr11:110,511,860...110,601,179
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ALKBH8 |
alkB homolog 8, tRNA methyltransferase |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:102,390,687...102,456,357
Ensembl chr11:105,872,588...105,937,472
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ANKK1 |
ankyrin repeat and kinase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:108,267,717...108,280,635
Ensembl chr11:112,111,003...112,123,382
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APLP2 |
amyloid beta precursor like protein 2 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:124,881,191...124,944,472
Ensembl chr11:128,775,329...128,847,482
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APOA1 |
apolipoprotein A1 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122
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APOA4 |
apolipoprotein A4 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:111,659,186...111,661,790
Ensembl chr11:115,591,788...115,594,382
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APOA5 |
apolipoprotein A5 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:111,625,403...111,627,932
Ensembl chr11:115,559,231...115,562,286
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APOC3 |
apolipoprotein C3 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:111,667,816...111,670,861
Ensembl chr11:115,600,416...115,603,460
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ARCN1 |
archain 1 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:113,411,166...113,441,792
Ensembl chr11:117,341,427...117,371,589
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ARHGAP20 |
Rho GTPase activating protein 20 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:105,457,931...105,593,644
Ensembl chr11:109,289,419...109,437,294
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ARHGAP32 |
Rho GTPase activating protein 32 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:123,780,028...124,096,494
Ensembl chr11:127,684,622...127,909,822
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ARHGEF12 |
Rho guanine nucleotide exchange factor 12 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:115,173,575...115,327,040
Ensembl chr11:119,098,903...119,251,522
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ATM |
ATM serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041
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ATP5MG |
ATP synthase membrane subunit g |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:113,236,010...113,243,661
Ensembl chr11:117,167,404...117,200,030
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B3GAT1 |
beta-1,3-glucuronyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:129,200,676...129,269,650
Ensembl chr11:133,089,603...133,117,492
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BACE1 |
beta-secretase 1 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:112,120,950...112,151,505
Ensembl chr11:116,054,303...116,084,812
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BARX2 |
BARX homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:124,187,026...124,264,154
Ensembl chr11:128,086,409...128,162,833
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BCL9L |
BCL9 like |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:113,735,852...113,765,811
Ensembl chr11:117,666,995...117,678,598
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BCO2 |
beta-carotene oxygenase 2 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:107,056,525...107,105,358
Ensembl chr11:110,899,703...110,942,547
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BLID |
BH3-like motif containing, cell death inducer |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:116,952,577...116,966,026
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BSX |
brain specific homeobox |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:117,807,856...117,815,571
Ensembl chr11:121,731,049...121,735,101
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BTG4 |
BTG anti-proliferation factor 4 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:106,374,407...106,394,341
Ensembl chr11:110,219,490...110,236,589
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BUD13 |
BUD13 homolog |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:111,583,588...111,610,703
Ensembl chr11:115,517,647...115,545,098
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C11H11orf52 |
chromosome 11 C11orf52 homolog |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:106,805,449...106,813,628
Ensembl chr11:110,649,474...110,657,531
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C11H11orf65 |
chromosome 11 C11orf65 homolog |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:103,195,244...103,352,211
Ensembl chr11:106,670,277...106,817,886
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C11H11orf71 |
chromosome 11 C11orf71 homolog |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:109,273,236...109,274,722
Ensembl chr11:113,108,478...113,117,573
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C11H11orf87 |
chromosome 11 C11orf87 homolog |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:104,308,303...104,315,320
Ensembl chr11:107,776,999...107,777,592
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C1QTNF5 |
C1q and TNF related 5 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:114,179,998...114,187,761
Ensembl chr11:118,107,706...118,108,774
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C2CD2L |
C2CD2 like |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:113,944,939...113,955,296
Ensembl chr11:117,875,077...117,883,581
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CADM1 |
cell adhesion molecule 1 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:110,008,314...110,347,876
Ensembl chr11:113,950,291...114,280,324
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CARD16 |
caspase recruitment domain family member 16 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:99,981,854...99,985,839
Ensembl chr11:103,467,368...103,468,288
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CASP1 |
caspase 1 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:99,965,964...99,975,640
Ensembl chr11:103,448,497...103,458,149 Ensembl chr11:103,448,497...103,458,149
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CASP5 |
caspase 5 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:99,931,066...99,963,652
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CBL |
Cbl proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671
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CCDC15 |
coiled-coil domain containing 15 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:119,781,702...119,872,629
Ensembl chr11:123,696,718...123,782,549
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CCDC153 |
coiled-coil domain containing 153 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:114,028,927...114,034,620
Ensembl chr11:117,956,945...117,962,655
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CDON |
cell adhesion associated, oncogene regulated |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:120,772,160...120,877,529
Ensembl chr11:124,685,084...124,786,091
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CENATAC |
centrosomal AT-AC splicing factor |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:113,836,400...113,853,928
Ensembl chr11:117,766,526...117,784,125
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CEP164 |
centrosomal protein 164 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:112,157,774...112,249,004
Ensembl chr11:116,106,847...116,180,516
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CFAP68 |
cilia and flagella associated protein 68 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:106,764,776...106,772,501
Ensembl chr11:110,608,823...110,614,652
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CHEK1 |
checkpoint kinase 1 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:120,446,352...120,478,207
Ensembl chr11:124,359,218...124,390,981
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CLDN25 |
claudin 25 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:108,658,470...108,659,159
Ensembl chr11:112,500,922...112,501,611
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CLMP |
CXADR like membrane protein |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:117,902,792...118,023,936
Ensembl chr11:121,824,398...121,942,055
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CRTAM |
cytotoxic and regulatory T cell molecule |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:117,671,581...117,705,818
Ensembl chr11:121,591,738...121,625,738
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CRYAB |
crystallin alpha B |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:106,795,406...106,800,019
Ensembl chr11:110,639,442...110,644,272
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CUL5 |
cullin 5 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:102,895,611...102,994,447
Ensembl chr11:106,371,759...106,469,989
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CWF19L2 |
CWF19 like cell cycle control factor 2 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:102,219,339...102,345,865
Ensembl chr11:105,702,934...105,828,149
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CXCR5 |
C-X-C motif chemokine receptor 5 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:113,722,084...113,735,987
Ensembl chr11:117,652,368...117,664,852
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DCPS |
decapping enzyme, scavenger |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:121,119,720...121,159,513
Ensembl chr11:125,028,616...125,068,807
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DDX10 |
DEAD-box helicase 10 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:103,549,629...103,826,262
Ensembl chr11:107,018,798...107,293,248
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DDX25 |
DEAD-box helicase 25 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:120,718,758...120,738,527
Ensembl chr11:124,632,841...124,667,585
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DDX6 |
DEAD-box helicase 6 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:113,587,220...113,630,995
Ensembl chr11:117,515,778...117,559,364
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DIXDC1 |
DIX domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:106,813,905...106,908,898
Ensembl chr11:110,657,803...110,753,114
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DLAT |
dihydrolipoamide S-acetyltransferase |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:106,910,857...106,950,851
Ensembl chr11:110,756,001...110,792,795
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DPAGT1 |
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:113,934,705...113,940,535
Ensembl chr11:117,863,866...117,870,204
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DRD2 |
dopamine receptor D2 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:108,289,838...108,357,174
Ensembl chr11:112,132,703...112,198,935
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DSCAML1 |
DS cell adhesion molecule like 1 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:112,263,509...112,632,332
Ensembl chr11:116,196,677...116,302,262
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EI24 |
EI24 autophagy associated transmembrane protein |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:120,389,136...120,404,347
Ensembl chr11:124,302,289...124,317,346
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ELMOD1 |
ELMO domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:102,481,649...102,557,478
Ensembl chr11:105,989,544...106,034,696
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ESAM |
endothelial cell adhesion molecule |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:119,580,140...119,589,338
Ensembl chr11:123,495,779...123,504,938
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ETS1 |
ETS proto-oncogene 1, transcription factor |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:123,272,111...123,400,413
Ensembl chr11:127,174,721...127,288,673
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EXPH5 |
exophilin 5 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:103,390,256...103,478,587
Ensembl chr11:106,863,716...106,947,586
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FAM118B |
family with sequence similarity 118 member B |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:121,025,604...121,076,860
Ensembl chr11:124,936,564...124,988,051
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G |
FDX1 |
ferredoxin 1 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:105,311,613...105,345,414
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G |
FDXACB1 |
ferredoxin-fold anticodon binding domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:106,759,471...106,764,721
Ensembl chr11:110,603,654...110,609,074
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G |
FEZ1 |
fasciculation and elongation protein zeta 1 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:120,272,187...120,322,600
Ensembl chr11:124,182,901...124,236,403
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G |
FLI1 |
Fli-1 proto-oncogene, ETS transcription factor |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:123,506,859...123,626,024
Ensembl chr11:127,409,301...127,530,312
|
|
G |
FOXR1 |
forkhead box R1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:113,809,875...113,819,093
Ensembl chr11:117,740,678...117,750,262
|
|
G |
FOXRED1 |
FAD dependent oxidoreductase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:121,083,245...121,096,296
Ensembl chr11:124,993,070...125,005,798
|
|
G |
FXYD2 |
FXYD domain containing ion transport regulator 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:112,654,774...112,666,630
Ensembl chr11:116,587,226...116,595,197
|
|
G |
FXYD6 |
FXYD domain containing ion transport regulator 6 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:112,671,570...112,712,085
Ensembl chr11:116,606,903...116,609,890
|
|
G |
GLB1L2 |
galactosidase beta 1 like 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:129,184,833...129,233,585
Ensembl chr11:133,052,848...133,087,425
|
|
G |
GLB1L3 |
galactosidase beta 1 like 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:129,126,472...129,172,535
Ensembl chr11:132,987,384...133,029,890
|
|
G |
GRAMD1B |
GRAM domain containing 1B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:118,191,126...118,459,439
Ensembl chr11:122,180,541...122,371,035
|
|
G |
GRIA4 |
glutamate ionotropic receptor AMPA type subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:100,498,632...100,873,764
Ensembl chr11:103,983,862...104,355,280
|
|
G |
GRIK4 |
glutamate ionotropic receptor kainate type subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:115,348,836...115,827,873
Ensembl chr11:119,564,412...119,750,000
|
|
G |
GUCY1A2 |
guanylate cyclase 1 soluble subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:101,565,279...101,910,136
|
|
G |
HEPACAM |
hepatic and glial cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:119,746,915...119,764,062
Ensembl chr11:123,663,210...123,678,015
|
|
G |
HEPN1 |
hepatocellular carcinoma, down-regulated 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:119,746,926...119,748,366
Ensembl chr11:123,661,843...123,662,109
|
|
G |
HINFP |
histone H4 transcription factor |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:113,959,670...113,973,781
Ensembl chr11:117,888,855...117,902,184
|
|
G |
HMBS |
hydroxymethylbilane synthase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:113,923,004...113,931,732
Ensembl chr11:117,852,295...117,860,757
|
|
G |
HOATZ |
HOATZ cilia and flagella associated protein |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:106,394,354...106,419,546
Ensembl chr11:110,238,843...110,263,946
|
|
G |
HSPA8 |
heat shock protein family A (Hsp70) member 8 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:117,890,545...117,895,262
Ensembl chr11:121,809,800...121,815,773
|
|
G |
HSPB2 |
heat shock protein family B (small) member 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:106,798,674...106,800,861
Ensembl chr11:110,642,933...110,644,893
|
|
G |
HTR3A |
5-hydroxytryptamine receptor 3A |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:108,851,954...108,869,119
Ensembl chr11:112,695,891...112,711,695
|
|
G |
HTR3B |
5-hydroxytryptamine receptor 3B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:108,783,514...108,825,266
Ensembl chr11:112,624,864...112,671,439
|
|
G |
HYLS1 |
HYLS1 centriolar and ciliogenesis associated |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:120,703,436...120,716,415
|
|
G |
HYOU1 |
hypoxia up-regulated 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:113,882,418...113,895,438
Ensembl chr11:117,812,975...117,824,005
|
|
G |
IFT46 |
intraflagellar transport 46 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:113,382,150...113,404,866
Ensembl chr11:117,312,894...117,335,319
|
|
G |
IGSF9B |
immunoglobulin superfamily member 9B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:128,734,144...128,802,383
Ensembl chr11:132,615,398...132,664,811
|
|
G |
IL10RA |
interleukin 10 receptor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:112,820,445...112,835,603
Ensembl chr11:116,752,619...116,767,771
|
|
G |
IL18 |
interleukin 18 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:107,024,376...107,045,194
Ensembl chr11:110,867,586...110,888,371
|
|
G |
JAM3 |
junctional adhesion molecule 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:128,916,024...129,006,497
Ensembl chr11:132,783,580...132,864,657
|
|
G |
JAML |
junction adhesion molecule like |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:113,027,829...113,062,344
Ensembl chr11:116,960,436...116,994,373
|
|
G |
JHY |
junctional cadherin complex regulator |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:117,716,064...117,793,476
Ensembl chr11:121,639,251...121,712,928
|
|
G |
KBTBD3 |
kelch repeat and BTB domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:100,938,438...100,969,353
Ensembl chr11:104,426,554...104,453,162
|
|
G |
KCNJ1 |
potassium inwardly rectifying channel subfamily J member 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:123,649,466...123,680,149
Ensembl chr11:127,553,327...127,557,860
|
|
G |
KCNJ5 |
potassium inwardly rectifying channel subfamily J member 5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:123,705,361...123,735,370
Ensembl chr11:127,606,208...127,634,213
|
|
G |
KCNJ5-AS1 |
KCNJ5 antisense RNA 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:123,715,331...123,718,621
Ensembl chr11:127,615,846...127,621,983
|
|
G |
KIRREL3 |
kirre like nephrin family adhesion molecule 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:121,236,962...121,821,806
Ensembl chr11:125,146,563...125,723,504
|
|
G |
KMT2A |
lysine methyltransferase 2A |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:113,273,198...113,364,404
Ensembl chr11:117,204,820...117,290,100
|
|
G |
LAYN |
layilin |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:106,423,134...106,443,237
Ensembl chr11:110,267,762...110,287,935
|
|
G |
LINC02873 |
long intergenic non-protein coding RNA 2873 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:125,487,375...125,532,848
|
|
G |
LOC100969411 |
olfactory receptor 10G8 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:118,858,083...118,859,115
|
|
G |
LOC100969759 |
olfactory receptor 10G7 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:118,866,310...118,867,475
Ensembl chr11:122,783,013...122,783,948
|
|
G |
LOC100970104 |
olfactory receptor 6T1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:118,771,165...118,772,241
Ensembl chr11:122,688,041...122,689,012
|
|
G |
LOC100970443 |
olfactory receptor 10S1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:118,805,119...118,806,084
|
|
G |
LOC100971133 |
olfactory receptor 4D5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:118,767,919...118,769,000
Ensembl chr11:122,684,788...122,685,744
|
|
G |
LOC100971476 |
olfactory receptor 6M1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:118,633,962...118,635,927
Ensembl chr11:122,552,151...122,553,092
|
|
G |
LOC100972169 |
olfactory receptor 8D4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:118,734,966...118,736,039
Ensembl chr11:122,651,884...122,652,828
|
|
G |
LOC100972492 |
olfactory receptor 6X1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:118,583,457...118,584,395
Ensembl chr11:122,500,073...122,501,011
|
|
G |
LOC100975221 |
olfactory receptor 8G1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:119,077,808...119,078,937
|
|
G |
LOC100978919 |
T-cell surface glycoprotein CD3 epsilon chain |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:113,142,200...113,153,928
Ensembl chr11:117,074,041...117,085,625
|
|
G |
LOC100979261 |
T-cell surface glycoprotein CD3 gamma chain |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:113,179,270...113,190,104
Ensembl chr11:117,111,132...117,120,566
|
|
G |
LOC100979946 |
T-cell surface glycoprotein CD3 delta chain |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:113,174,007...113,179,244
Ensembl chr11:117,105,868...117,111,051
|
|
G |
LOC100983381 |
protein NPAT |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:103,044,313...103,109,809
Ensembl chr11:106,519,614...106,584,034
|
|
G |
LOC100985633 |
caspase-1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:100,031,979...100,041,771
Ensembl chr11:103,522,260...103,524,354
|
|
G |
LOC100991353 |
caspase-4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:99,883,353...99,909,185
Ensembl chr11:103,366,138...103,391,824
|
|
G |
LOC100992664 |
olfactory receptor 8A1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:119,395,269...119,396,731
Ensembl chr11:123,310,904...123,311,884
|
|
G |
LOC100993012 |
olfactory receptor 8B12 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:119,367,996...119,368,928
|
|
G |
LOC100994056 |
olfactory receptor 8B4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:119,250,801...119,251,733
|
|
G |
LOC100994157 |
histone H2AX |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:113,932,078...113,933,679
|
|
G |
LOC100994750 |
olfactory receptor 8D2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:119,159,744...119,160,782
Ensembl chr11:123,075,429...123,076,364
|
|
G |
LOC100995418 |
olfactory receptor 8G5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:119,099,240...119,100,454
Ensembl chr11:123,015,013...123,016,053
|
|
G |
LOC112441186 |
olfactory receptor 8B3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:119,223,013...119,224,485
|
|
G |
MCAM |
melanoma cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:114,149,583...114,158,234
Ensembl chr11:118,078,179...118,083,893
|
|
G |
MFRP |
membrane frizzled-related protein |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:114,179,998...114,187,716
Ensembl chr11:118,107,317...118,115,050
|
|
G |
MPZL2 |
myelin protein zero like 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:113,063,961...113,102,097
Ensembl chr11:117,023,102...117,034,209
|
|
G |
MPZL3 |
myelin protein zero like 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:113,063,957...113,089,929
Ensembl chr11:116,996,090...117,022,051
|
|
G |
MSANTD2 |
Myb/SANT DNA binding domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:119,593,493...119,628,962
Ensembl chr11:123,509,696...123,543,184
|
|
G |
MSANTD4 |
Myb/SANT DNA binding domain containing 4 with coiled-coils |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:100,899,541...100,913,926
Ensembl chr11:104,383,412...104,397,702
|
|
G |
NCAM1 |
neural cell adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:107,845,507...108,160,441
Ensembl chr11:111,925,677...112,000,401
|
|
G |
NCAPD3 |
non-SMC condensin II complex subunit D3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:129,005,365...129,078,581
Ensembl chr11:132,865,349...132,935,590
|
|
G |
NECTIN1 |
nectin cell adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:114,497,177...114,565,338
Ensembl chr11:118,401,321...118,493,090
|
|
G |
NFRKB |
nuclear factor related to kappaB binding protein |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:124,676,456...124,708,349
Ensembl chr11:128,572,240...128,601,779
|
|
G |
NHERF4 |
NHERF family PDZ scaffold protein 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:114,024,150...114,028,884
Ensembl chr11:117,952,154...117,956,879
|
|
G |
NKAPD1 |
NKAP domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:106,960,669...106,971,584
Ensembl chr11:110,804,481...110,815,338
|
|
G |
NLRX1 |
NLR family member X1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:114,007,415...114,022,712
Ensembl chr11:117,935,444...117,950,728
|
|
G |
NNMT |
nicotinamide N-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:109,174,490...109,186,758
Ensembl chr11:113,016,613...113,029,581
|
|
G |
NRGN |
neurogranin |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:119,566,934...119,574,248
|
|
G |
NTM |
neurotrimin |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:126,189,660...127,154,890
Ensembl chr11:130,617,876...131,037,876
|
|
G |
NXPE1 |
neurexophilin and PC-esterase domain family member 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:109,395,176...109,433,810
Ensembl chr11:113,238,153...113,276,278
|
|
G |
NXPE2 |
neurexophilin and PC-esterase domain family member 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:109,341,362...109,556,238
Ensembl chr11:113,466,008...113,490,392
|
|
G |
NXPE4 |
neurexophilin and PC-esterase domain family member 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:109,444,062...109,465,161
|
|
G |
OAF |
out at first homolog |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:115,045,790...115,065,032
Ensembl chr11:118,972,574...118,991,170
|
|
G |
OPCML |
opioid binding protein/cell adhesion molecule like |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:127,233,465...128,377,367
|
|
G |
PAFAH1B2 |
platelet activating factor acetylhydrolase 1b catalytic subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:111,978,368...112,005,064
Ensembl chr11:115,911,803...115,944,351
|
|
G |
PANX3 |
pannexin 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:119,438,866...119,452,174
Ensembl chr11:123,354,919...123,363,463
|
|
G |
PATE1 |
prostate and testis expressed 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:120,565,280...120,568,857
Ensembl chr11:124,478,417...124,480,839
|
|
G |
PATE2 |
prostate and testis expressed 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:120,595,136...120,703,189
Ensembl chr11:124,509,500...124,510,891
|
|
G |
PATE3 |
prostate and testis expressed 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:120,607,720...120,611,235
Ensembl chr11:124,520,239...124,523,719
|
|
G |
PATE4 |
prostate and testis expressed 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:120,651,794...120,659,020
Ensembl chr11:124,565,341...124,572,090
|
|
G |
PHLDB1 |
pleckstrin homology like domain family B member 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:113,446,275...113,496,941
Ensembl chr11:117,376,205...117,426,391
|
|
G |
PIH1D2 |
PIH1 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:106,938,450...106,960,535
Ensembl chr11:110,798,074...110,804,506
|
|
G |
PKNOX2 |
PBX/knotted 1 homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:119,991,916...120,259,800
Ensembl chr11:124,072,715...124,173,865
|
|
G |
PLET1 |
placenta expressed transcript 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:107,126,523...107,141,857
Ensembl chr11:110,971,824...110,984,838
|
|
G |
POGLUT3 |
protein O-glucosyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:103,356,813...103,383,515
Ensembl chr11:106,827,056...106,853,166
|
|
G |
POU2AF1 |
POU class 2 homeobox associating factor 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:106,231,870...106,258,822
Ensembl chr11:110,078,850...110,103,996
|
|
G |
POU2AF2 |
POU class 2 homeobox associating factor 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:106,125,675...106,165,907
Ensembl chr11:109,971,255...110,011,080
|
|
G |
POU2AF3 |
POU class 2 homeobox associating factor 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:106,178,653...106,188,354
Ensembl chr11:110,023,207...110,033,060
|
|
G |
POU2F3 |
POU class 2 homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:115,075,399...115,156,307
Ensembl chr11:119,001,408...119,082,531
|
|
G |
PPP2R1B |
protein phosphatase 2 scaffold subunit Abeta |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:106,609,754...106,651,811
Ensembl chr11:110,465,475...110,495,908
|
|
G |
PRDM10 |
PR/SET domain 10 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:124,712,440...124,816,141
Ensembl chr11:128,607,600...128,710,156
|
|
G |
PTS |
6-pyruvoyltetrahydropterin synthase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:107,107,114...107,114,594
Ensembl chr11:110,949,708...110,957,599
|
|
G |
PUS3 |
pseudouridine synthase 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:120,709,264...120,718,773
Ensembl chr11:124,622,279...124,629,508
|
|
G |
RAB39A |
RAB39A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:102,814,825...102,851,700
Ensembl chr11:106,291,348...106,326,587
|
|
G |
RBM7 |
RNA binding motif protein 7 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:109,274,678...109,284,568
Ensembl chr11:113,117,771...113,131,348
|
|
G |
RDX |
radixin |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:105,075,716...105,176,660
Ensembl chr11:108,921,477...109,005,557
|
|
G |
REXO2 |
RNA exonuclease 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:109,313,231...109,323,794
Ensembl chr11:113,156,189...113,166,767
|
|
G |
RNF214 |
ring finger protein 214 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:112,066,666...112,121,051
Ensembl chr11:116,002,034...116,054,282
|
|
G |
RNF26 |
ring finger protein 26 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:114,175,586...114,178,379
Ensembl chr11:118,103,505...118,104,806
|
|
G |
ROBO3 |
roundabout guidance receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:119,692,232...119,708,309
Ensembl chr11:123,607,268...123,623,356
|
|
G |
ROBO4 |
roundabout guidance receptor 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:119,711,023...119,724,701
Ensembl chr11:123,626,063...123,639,837
|
|
G |
RPS25 |
ribosomal protein S25 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:113,853,891...113,856,636
Ensembl chr11:117,784,075...117,787,104
|
|
G |
RPUSD4 |
RNA pseudouridine synthase D4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:120,997,815...121,025,558
Ensembl chr11:124,926,910...124,936,621
|
|
G |
SC5D |
sterol-C5-desaturase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:116,139,979...116,160,745
Ensembl chr11:120,063,743...120,078,386
|
|
G |
SCN2B |
sodium voltage-gated channel beta subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:112,996,609...113,010,412
Ensembl chr11:116,928,676...116,942,500
|
|
G |
SCN3B |
sodium voltage-gated channel beta subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:118,460,860...118,486,563
Ensembl chr11:122,377,643...122,403,063
|
|
G |
SCN4B |
sodium voltage-gated channel beta subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:112,967,190...112,986,727
Ensembl chr11:116,899,268...116,918,892
|
|
G |
SIAE |
sialic acid acetylesterase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:119,463,554...119,503,192
Ensembl chr11:123,378,866...123,416,935
|
|
G |
SIDT2 |
SID1 transmembrane family member 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:112,012,734...112,031,403
Ensembl chr11:115,946,725...115,963,408
|
|
G |
SIK2 |
salt inducible kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:106,484,913...106,613,711
Ensembl chr11:110,329,237...110,453,543
|
|
G |
SIK3 |
SIK family kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:111,680,884...111,932,424
Ensembl chr11:115,613,478...115,730,158
|
|
G |
SLC35F2 |
solute carrier family 35 member F2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:102,681,791...102,750,821
Ensembl chr11:106,159,625...106,227,656
|
|
G |
SLC37A2 |
solute carrier family 37 member 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:119,890,340...119,917,731
Ensembl chr11:123,804,677...123,832,326
|
|
G |
SLC37A4 |
solute carrier family 37 member 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:113,862,537...113,869,447
Ensembl chr11:117,792,700...117,799,269
|
|
G |
SLN |
sarcolipin |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:102,598,123...102,602,917
|
|
G |
SNX19 |
sorting nexin 19 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:125,691,537...125,732,206
Ensembl chr11:129,581,876...129,622,517
|
|
G |
SORL1 |
sortilin related receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:116,297,014...116,477,399
Ensembl chr11:120,222,491...120,402,432
|
|
G |
SPA17 |
sperm autoantigenic protein 17 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:119,501,604...119,526,103
Ensembl chr11:123,416,725...123,437,818
|
|
G |
SPATA19 |
spermatogenesis associated 19 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
Ensembl chr11:132,550,916...132,555,821
|
|
G |
SRPRA |
SRP receptor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:121,071,054...121,083,106
Ensembl chr11:124,987,307...124,993,347
|
|
G |
ST14 |
ST14 transmembrane serine protease matriptase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:125,001,771...125,021,371
Ensembl chr11:128,888,124...128,913,559
|
|
G |
ST3GAL4 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:121,169,213...121,228,287
Ensembl chr11:125,079,260...125,141,737
|
|
G |
STT3A |
STT3 oligosaccharyltransferase complex catalytic subunit A |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:120,412,488...120,440,713
Ensembl chr11:124,325,762...124,353,596
|
|
G |
TAGLN |
transgelin |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:112,033,257...112,038,749
Ensembl chr11:115,966,516...115,972,129
|
|
G |
TBRG1 |
transforming growth factor beta regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:119,450,666...119,463,685
Ensembl chr11:123,365,974...123,378,463
|
|
G |
TEX12 |
testis expressed 12 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:107,048,417...107,053,655
Ensembl chr11:110,817,016...110,896,829
|
|
G |
THY1 |
Thy-1 cell surface antigen |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:114,253,535...114,259,495
Ensembl chr11:118,180,717...118,186,901
|
|
G |
THYN1 |
thymocyte nuclear protein 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:129,101,422...129,106,521
Ensembl chr11:132,958,850...132,963,911
|
|
G |
TIMM8B |
translocase of inner mitochondrial membrane 8 homolog B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:106,971,579...106,973,226
Ensembl chr11:110,815,333...110,816,980
|
|
G |
TIRAP |
TIR domain containing adaptor protein |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:121,100,558...121,112,844
Ensembl chr11:125,018,064...125,022,309
|
|
G |
TLCD5 |
TLC domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:115,161,556...115,170,850
Ensembl chr11:119,087,580...119,093,621
|
|
G |
TMEM218 |
transmembrane protein 218 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:119,924,220...119,938,931
Ensembl chr11:123,839,054...123,843,682
|
|
G |
TMEM225 |
transmembrane protein 225 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:118,711,832...118,715,420
Ensembl chr11:122,628,109...122,631,425
|
|
G |
TMEM25 |
transmembrane protein 25 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:113,368,595...113,384,290
Ensembl chr11:117,299,183...117,314,494
|
|
G |
TMEM45B |
transmembrane protein 45B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:124,629,967...124,673,385
Ensembl chr11:128,526,824...128,568,268
|
|
G |
TMPRSS13 |
transmembrane serine protease 13 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:112,735,048...112,763,561
Ensembl chr11:116,666,773...116,686,762
|
|
G |
TMPRSS4 |
transmembrane serine protease 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:112,910,223...112,953,677
Ensembl chr11:116,843,287...116,884,767
|
|
G |
TMPRSS5 |
transmembrane serine protease 5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:108,566,007...108,585,002
Ensembl chr11:112,408,976...112,427,704
|
|
G |
TP53AIP1 |
tumor protein p53 regulated apoptosis inducing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:123,748,770...123,757,797
Ensembl chr11:127,650,841...127,659,213
|
|
G |
TRAPPC4 |
trafficking protein particle complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:113,856,661...113,861,855
Ensembl chr11:117,786,838...117,793,395
|
|
G |
TREH |
trehalase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:113,496,561...113,519,230
Ensembl chr11:117,426,597...117,448,445
|
|
G |
TRIM29 |
tripartite motif containing 29 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:114,946,176...114,973,186
Ensembl chr11:118,872,831...118,899,708
|
|
G |
TTC12 |
tetratricopeptide repeat domain 12 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:108,194,610...108,253,161
Ensembl chr11:112,037,620...112,106,537
|
|
G |
TTC36 |
tetratricopeptide repeat domain 36 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr11:113,364,559...113,368,586
Ensembl chr11:117,295,191...117,298,928
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G |
UBASH3B |
ubiquitin associated and SH3 domain containing B |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:117,489,411...117,647,719
Ensembl chr11:121,410,545...121,563,133
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UBE4A |
ubiquitination factor E4A |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:113,193,986...113,233,660
Ensembl chr11:117,131,100...117,162,385
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UPK2 |
uroplakin 2 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:113,768,506...113,796,564
Ensembl chr11:117,724,038...117,726,313
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USP2 |
ubiquitin specific peptidase 2 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:114,196,725...114,223,411
Ensembl chr11:118,124,350...118,150,868
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USP28 |
ubiquitin specific peptidase 28 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:108,676,566...108,754,372
Ensembl chr11:112,517,693...112,595,585
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VPS11 |
VPS11 core subunit of CORVET and HOPS complexes |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:113,905,989...113,920,163
Ensembl chr11:117,835,557...117,849,389
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VPS26B |
VPS26 retromer complex component B |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:129,077,964...129,100,936
Ensembl chr11:132,936,077...132,958,364
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VSIG2 |
V-set and immunoglobulin domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:119,573,939...119,579,988
Ensembl chr11:123,490,150...123,495,720
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VWA5A |
von Willebrand factor A domain containing 5A |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:118,943,755...118,974,886
Ensembl chr11:122,860,255...122,891,317
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G |
ZBTB16 |
zinc finger and BTB domain containing 16 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:108,938,414...109,133,819
Ensembl chr11:112,780,380...112,977,164
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ZBTB44 |
zinc finger and BTB domain containing 44 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:125,037,645...125,125,711
Ensembl chr11:128,929,826...128,964,790
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ZC3H12C |
zinc finger CCCH-type containing 12C |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:104,975,798...105,054,382
Ensembl chr11:108,859,581...108,899,858
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ZNF202 |
zinc finger protein 202 |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:118,554,313...118,572,473
Ensembl chr11:122,470,920...122,488,201
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ZPR1 |
ZPR1 zinc finger |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:111,613,940...111,623,539
Ensembl chr11:115,547,973...115,557,883
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ZW10 |
zw10 kinetochore protein |
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ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr11:108,611,818...108,652,444
Ensembl chr11:112,454,637...112,495,316
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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 chr11:31,473,439...31,754,446
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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 PMID:31161946 More...
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NCBI chr11:31,753,190...31,782,225
Ensembl chr11:31,641,813...31,664,474
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G |
WT1 |
WT1 transcription factor |
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ISO |
ClinVar Annotator: match by term: 11p deletion syndrome |
ClinVar |
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:6307071 PMID:7795587 PMID:8295405 PMID:9090524 PMID:9529364 PMID:9607189 PMID:10470095 PMID:10505700 PMID:11182928 PMID:12970737 PMID:15150775 PMID:15483024 PMID:15509792 PMID:17496156 PMID:17541636 PMID:17853480 PMID:23497137 PMID:23715653 PMID:23935527 PMID:25501161 PMID:25741868 PMID:25818337 PMID:26069768 PMID:26467025 PMID:27013732 PMID:27899157 PMID:28204945 PMID:28492532 PMID:32352694 PMID:32581362 More...
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NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249
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ACOD1 |
aconitate decarboxylase 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:58,166,872...58,176,146
Ensembl chr13:77,211,430...77,222,201
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G |
ALG11 |
ALG11 alpha-1,2-mannosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:33,144,708...33,166,033
Ensembl chr13:51,888,738...51,905,894
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G |
ARL11 |
ADP ribosylation factor like GTPase 11 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:30,767,431...30,770,962
Ensembl chr13:49,518,030...49,518,620
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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 chr13:33,063,698...33,144,528
Ensembl chr13:51,810,555...51,851,839
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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 chr13:53,956,913...53,985,355
Ensembl chr13:72,733,006...72,761,432
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G |
C13H13orf42 |
chromosome 13 C13orf42 homolog |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:32,216,898...32,247,120
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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 chr13:30,446,643...30,584,608
Ensembl chr13:49,198,143...49,288,816
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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 chr13:32,991,931...32,997,329
Ensembl chr13:51,741,930...51,742,631
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G |
CDADC1 |
cytidine and dCMP deaminase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:30,386,671...30,432,112
Ensembl chr13:49,138,498...49,186,541
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G |
CKAP2 |
cytoskeleton associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:33,371,744...33,393,483
Ensembl chr13:52,378,278...52,399,608
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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 chr13:58,207,542...58,220,697
Ensembl chr13:77,253,203...77,263,759
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G |
CNMD |
chondromodulin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:33,737,029...33,776,588
Ensembl chr13:52,547,943...52,584,720
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G |
COMMD6 |
COMM domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:56,752,787...56,764,664
Ensembl chr13:75,526,128...75,537,499
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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 chr13:29,796,598...29,853,676
Ensembl chr13:48,551,757...48,552,797
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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 chr13:52,666,569...53,098,257
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G |
DHRS12 |
dehydrogenase/reductase 12 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:32,897,182...32,932,715
Ensembl chr13:51,642,208...51,672,203
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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 chr13:40,846,270...41,335,920
Ensembl chr13:59,676,307...60,056,672
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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 chr13:53,982,914...54,011,076
Ensembl chr13:72,760,610...72,787,325
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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 chr13:31,834,182...31,982,703
Ensembl chr13:50,706,111...50,726,445
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G |
EBPL |
EBP like |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:30,799,832...30,830,670
Ensembl chr13:49,548,230...49,578,820
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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 chr13:59,112,349...59,136,615
Ensembl chr13:78,153,020...78,177,286
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G |
FAM124A |
family with sequence similarity 124 member A |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:32,356,260...32,418,132
Ensembl chr13:51,101,704...51,163,916
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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 chr13:58,219,260...58,244,780
Ensembl chr13:77,266,496...77,283,651
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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 chr13:30,119,740...30,347,544
Ensembl chr13:48,820,018...49,049,274
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G |
HNRNPA1L2 |
heterogeneous nuclear ribonucleoprotein A1 like 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:33,653,693...33,680,196
Ensembl chr13:52,487,132...52,488,093
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G |
INTS6 |
integrator complex subunit 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:32,487,169...32,583,415
Ensembl chr13:51,242,452...51,327,882
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G |
ITM2B |
integral membrane protein 2B |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:29,383,318...29,412,018
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G |
KCNRG |
potassium channel regulator |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:31,154,531...31,161,081
Ensembl chr13:49,901,696...49,908,169
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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 chr13:58,097,764...58,104,972
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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 chr13:54,916,443...55,535,131
Ensembl chr13:73,697,912...73,996,956
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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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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 chr13:50,906,581...51,335,692
Ensembl chr13:69,691,537...70,118,448
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G |
KPNA3 |
karyopherin subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:30,838,320...30,931,608
Ensembl chr13:49,586,544...49,679,906
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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 chr13:56,846,724...57,084,178
Ensembl chr13:75,894,529...76,130,080
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G |
LOC100982148 |
LMO7 downstream neighbor protein |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:57,096,039...57,109,497
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G |
LOC100983617 |
protocadherin-8 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:33,880,543...33,886,243
Ensembl chr13:52,688,522...52,692,399
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G |
LOC100992351 |
putative UPF0607 protein ENSP00000383144 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:58,877,777...58,879,200
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G |
LOC117975530 |
proline-rich protein 20E |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:38,340,469...38,342,105
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G |
LOC130540719 |
uncharacterized LOC130540719 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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G |
LPAR6 |
lysophosphatidic acid receptor 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:29,561,219...29,567,414
Ensembl chr13:48,263,254...48,264,291
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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 chr13:29,227,620...29,247,082
Ensembl chr13:47,929,918...47,948,836
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G |
MLNR |
motilin receptor |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:30,358,092...30,362,419
Ensembl chr13:49,109,918...49,111,850
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G |
MYCBP2 |
MYC binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:58,262,251...58,544,819
Ensembl chr13:77,306,509...77,586,843
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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 chr13:53,937,689...53,956,954
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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 chr13:60,717,590...60,792,373
Ensembl chr13:79,745,362...79,820,286
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G |
NEK3 |
NIMA related kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:33,261,186...33,288,316
Ensembl chr13:52,003,518...52,030,212
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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 chr13:33,166,069...33,260,990
Ensembl chr13:51,938,342...51,998,357
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G |
NUDT15 |
nudix hydrolase 15 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:29,189,459...29,198,825
Ensembl chr13:47,891,557...47,900,971
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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 chr13:59,840,406...59,884,765
Ensembl chr13:78,874,466...78,918,446
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G |
OLFM4 |
olfactomedin 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:34,066,155...34,089,468
Ensembl chr13:52,873,289...52,896,827
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G |
PCDH17 |
protocadherin 17 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:38,801,514...38,900,811
Ensembl chr13:57,532,850...57,631,725
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G |
PCDH20 |
protocadherin 20 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:42,582,806...42,588,890
Ensembl chr13:61,300,554...61,318,534
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G |
PCDH9 |
protocadherin 9 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:47,512,960...48,430,521
Ensembl chr13:66,310,212...67,222,134
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G |
PHF11 |
PHD finger protein 11 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:30,636,035...30,670,262
Ensembl chr13:49,386,374...49,419,310
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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 chr13:54,011,239...54,247,952
Ensembl chr13:72,788,608...73,022,473
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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 chr13:59,821,614...59,829,671
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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 chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575
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G |
RBM26 |
RNA binding motif protein 26 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr13:60,547,197...60,642,551
Ensembl chr13:79,585,632...79,670,999
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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 chr13:30,673,230...30,727,480
Ensembl chr13:49,422,283...49,475,857
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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 chr13:29,631,741...29,675,959
Ensembl chr13:48,332,860...48,377,336
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G |
RNASEH2B |
ribonuclease H2 subunit B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:32,047,830...32,108,573
Ensembl chr13:50,795,701...50,852,909
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G |
SCEL |
sciellin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:58,772,893...58,861,813
Ensembl chr13:77,795,230...77,904,016
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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 chr13:32,475,429...32,496,700
Ensembl chr13:51,220,735...51,241,791
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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 chr13:30,584,762...30,635,408
Ensembl chr13:49,335,894...49,386,150
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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 chr13:58,914,327...58,981,193
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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 chr13:65,081,844...65,087,135
Ensembl chr13:84,253,287...84,256,069
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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 chr13:66,990,025...67,003,900
Ensembl chr13:86,161,905...86,164,430
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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 chr13:61,569,658...61,574,817
Ensembl chr13:80,596,346...80,597,408
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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 chr13:31,053,278...31,076,746
Ensembl chr13:49,801,309...49,824,463
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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 chr13:29,095,062...29,189,618
Ensembl chr13:47,797,472...47,856,138
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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 chr13:33,688,941...33,724,687
Ensembl chr13:52,497,557...52,532,434
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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 chr13:56,513,065...56,706,491
Ensembl chr13:75,282,441...75,361,729
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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 chr13:41,568,080...41,750,288
Ensembl chr13:60,290,518...60,470,245
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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 chr13:33,442,480...33,472,259
Ensembl chr13:52,301,206...52,330,504
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G |
TMEM272 |
transmembrane protein 272 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:32,940,896...33,065,397
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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 chr13:31,137,236...31,153,398
Ensembl chr13:49,889,041...49,900,488
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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 chr13:56,776,436...56,832,539
Ensembl chr13:75,549,647...75,878,673
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G |
UTP14C |
UTP14C small subunit processome component |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr13:33,144,810...33,166,033
Ensembl chr13:51,905,055...51,908,218
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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 chr13:33,398,165...33,436,615
Ensembl chr13:52,336,484...52,372,851
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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 chr13:32,714,088...32,896,885
Ensembl chr13:51,535,071...51,636,052
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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 chr15:167,863...400,296
Ensembl chr15:27,174,217...27,241,529
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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 |
|
NCBI chr15:4,064,605...4,262,695
Ensembl chr15:23,090,927...23,275,674
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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 chr 7:64,822,964...66,015,831
Ensembl chr 7:77,495,909...78,686,763
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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 |
|
NCBI chr17:2,711,407...2,740,361
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|
G |
CHRNA7 |
cholinergic receptor nicotinic alpha 7 subunit |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
|
|
NCBI chr15:10,525,535...10,667,227
Ensembl chr15:29,565,885...29,705,194
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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 chr17:2,680,660...2,703,205
Ensembl chr17:2,685,994...2,700,587
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|
G |
CYFIP1 |
cytoplasmic FMR1 interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
|
Ensembl chr15:20,462,811...20,573,684
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|
G |
ENTREP2 |
endosomal transmembrane epsin interactor 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr15:400,828...861,377
Ensembl chr15:26,915,381...27,176,793
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|
G |
GABRA5 |
gamma-aminobutyric acid type A receptor subunit alpha5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr15:2,953,857...3,036,722
Ensembl chr15:24,300,300...24,382,730
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|
G |
GABRB3 |
gamma-aminobutyric acid type A receptor subunit beta3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr15:3,129,481...3,357,495
Ensembl chr15:23,981,359...24,058,357
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|
G |
GABRG3 |
gamma-aminobutyric acid type A receptor subunit gamma3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr15:2,371,468...2,932,250
Ensembl chr15:24,409,611...24,959,987
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|
G |
GOLGA6L2 |
golgin A6 family like 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr15:6,213,121...6,224,509
|
|
G |
HERC2 |
HECT and RLD domain containing E3 ubiquitin protein ligase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr15:1,590,558...1,800,023
Ensembl chr15:25,536,483...25,746,074
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|
G |
LOC117975960 |
golgin subfamily A member 6-like protein 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr15:126,343...133,909
|
|
G |
MAGEL2 |
MAGE family member L2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr15:6,017,523...6,021,849
Ensembl chr15:21,134,857...21,138,576
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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 chr15:6,036,034...6,099,137
|
|
G |
NDN |
necdin, MAGE family member |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr15:5,977,519...5,979,185
|
|
G |
NIPA1 |
NIPA magnesium transporter 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
|
Ensembl chr15:20,617,547...20,655,686
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|
G |
NIPA2 |
NIPA magnesium transporter 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
|
Ensembl chr15:20,574,757...20,603,745
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|
G |
NPAP1 |
nuclear pore associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr15:5,268,210...5,272,017
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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 chr15:550,856...552,543
Ensembl chr15:27,027,373...27,028,285
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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 |
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NCBI chr15:1,811,728...2,192,018
Ensembl chr15:25,181,386...25,523,774
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G |
OTUD7A |
OTU deubiquitinase 7A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
|
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NCBI chr15:9,974,737...10,360,991
|
|
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 chr17:2,584,349...2,676,928
Ensembl chr17:2,590,007...2,680,994
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|
G |
RAP1GAP2 |
RAP1 GTPase activating protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr17:2,742,454...3,031,659
Ensembl chr17:2,760,790...3,025,393
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G |
SNRPN |
small nuclear ribonucleoprotein polypeptide N |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr15:4,970,013...5,124,478
Ensembl chr15:22,347,242...22,371,062
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G |
SNURF |
SNRPN upstream open reading frame |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr15:4,971,565...4,993,651
Ensembl chr15:22,347,242...22,371,062
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G |
TJP1 |
tight junction protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr15:981,198...1,249,292
Ensembl chr15:26,344,878...26,598,878
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G |
TUBGCP5 |
tubulin gamma complex component 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
|
Ensembl chr15:20,403,757...20,444,851
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G |
UBE3A |
ubiquitin protein ligase E3A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr15:4,494,029...4,595,415
Ensembl chr15:22,747,075...22,825,459
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G |
CHRNA7 |
cholinergic receptor nicotinic alpha 7 subunit |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr15:10,525,535...10,667,227
Ensembl chr15:29,565,885...29,705,194
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G |
FAN1 |
FANCD2 and FANCI associated nuclease 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr15:9,395,348...9,435,434
Ensembl chr15:28,433,749...28,473,211
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G |
KLF13 |
KLF transcription factor 13 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr15:9,818,294...9,964,912
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G |
MTMR10 |
myotubularin related protein 10 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr15:9,431,261...9,484,107
Ensembl chr15:28,469,039...28,521,997
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G |
OTUD7A |
OTU deubiquitinase 7A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr15:9,974,737...10,360,991
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G |
TRPM1 |
transient receptor potential cation channel subfamily M member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr15:9,492,500...9,653,644
Ensembl chr15:28,530,878...28,690,947
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G |
CIMAP1C |
ciliary microtubule associated protein 1C |
|
ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
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NCBI chr15:54,630,808...54,636,066
Ensembl chr15:74,225,859...74,229,571
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G |
COMMD4 |
COMM domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
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NCBI chr15:54,252,289...54,256,637
Ensembl chr15:73,848,231...73,852,531
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G |
CSPG4 |
chondroitin sulfate proteoglycan 4 |
|
ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
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NCBI chr15:54,583,010...54,621,240
Ensembl chr15:74,177,909...74,200,498
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G |
IMP3 |
IMP U3 small nucleolar ribonucleoprotein 3 |
|
ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
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NCBI chr15:54,547,455...54,548,633
Ensembl chr15:74,141,156...74,141,710
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G |
MAN2C1 |
mannosidase alpha class 2C member 1 |
|
ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
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NCBI chr15:54,272,142...54,285,102
Ensembl chr15:73,868,134...73,880,704
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G |
NEIL1 |
nei like DNA glycosylase 1 |
|
ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
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NCBI chr15:54,263,424...54,271,601
Ensembl chr15:73,858,910...73,867,474
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G |
PTPN9 |
protein tyrosine phosphatase non-receptor type 9 |
|
ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
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NCBI chr15:54,382,689...54,489,942
Ensembl chr15:73,978,147...74,034,204
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G |
SIN3A |
SIN3 transcription regulator family member A |
|
ISO |
ClinVar Annotator: match by term: 15q24 Microdeletion Syndrome | ClinVar Annotator: match by term: SIN3A-related intellectual disability syndrome | ClinVar Annotator: match by term: Witteveen-kolk syndrome |
OMIM ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 PMID:25741868 PMID:27399968 PMID:28492532 PMID:30267900 More...
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NCBI chr15:54,285,587...54,371,376
Ensembl chr15:73,881,500...73,966,506
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G |
SNUPN |
snurportin 1 |
|
ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
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NCBI chr15:54,508,586...54,536,301
Ensembl chr15:74,102,753...74,126,511
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G |
SNX33 |
sorting nexin 33 |
|
ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
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NCBI chr15:54,556,304...54,570,683
Ensembl chr15:74,151,053...74,159,584
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G |
ADAMTS17 |
ADAM metallopeptidase with thrombospondin type 1 motif 17 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr15:78,703,728...79,076,861
Ensembl chr15:97,999,448...98,366,893
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G |
ALDH1A3 |
aldehyde dehydrogenase 1 family member A3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr15:79,603,893...79,640,866
Ensembl chr15:98,891,770...98,928,396
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G |
ASB7 |
ankyrin repeat and SOCS box containing 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr15:79,328,868...79,378,039
Ensembl chr15:98,616,797...98,666,094
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G |
CERS3 |
ceramide synthase 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr15:79,128,338...79,272,018
Ensembl chr15:98,422,256...98,521,775
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G |
CHSY1 |
chondroitin sulfate synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr15:79,901,340...79,976,067
Ensembl chr15:99,186,705...99,260,591
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G |
IGF1R |
insulin like growth factor 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr15:77,332,926...77,648,474
Ensembl chr15:96,535,164...96,832,974
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G |
LINS1 |
lines homolog 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr15:79,293,426...79,328,691
Ensembl chr15:98,583,906...98,616,407
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G |
LRRC28 |
leucine rich repeat containing 28 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr15:77,932,476...78,069,106
Ensembl chr15:97,117,104...97,250,570
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G |
LRRK1 |
leucine rich repeat kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr15:79,642,908...79,793,990
Ensembl chr15:98,931,344...99,081,168
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G |
LYSMD4 |
LysM domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr15:78,396,860...78,413,774
Ensembl chr15:97,590,076...97,596,035
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G |
MEF2A |
myocyte enhancer factor 2A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr15:78,246,439...78,396,720
Ensembl chr15:97,428,744...97,579,092
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G |
PGPEP1L |
pyroglutamyl-peptidase I like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr15:77,651,265...77,791,570
Ensembl chr15:96,836,590...96,839,587
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G |
SYNM |
synemin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr15:77,790,447...77,821,317
Ensembl chr15:96,975,160...97,002,412
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G |
TTC23 |
tetratricopeptide repeat domain 23 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr15:77,821,847...77,932,769
Ensembl chr15:97,005,675...97,116,569
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G |
ALDOA |
aldolase, fructose-bisphosphate A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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G |
ASPHD1 |
aspartate beta-hydroxylase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,268,390...30,273,581
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G |
ATP2A1 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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Ensembl chr16:29,265,516...29,290,807 Ensembl chr16:29,265,516...29,290,807
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G |
ATXN2L |
ataxin 2 like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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Ensembl chr16:29,209,115...29,226,239
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G |
BOLA2B |
bolA family member 2B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
|
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G |
C16H16orf54 |
chromosome 16 C16orf54 homolog |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,117,052...30,117,726
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G |
C16H16orf92 |
chromosome 16 C16orf92 homolog |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,398,743...30,399,615
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G |
CD19 |
CD19 molecule |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
|
Ensembl chr16:29,320,734...29,327,481
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G |
CDIPT |
CDP-diacylglycerol--inositol 3-phosphatidyltransferase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,227,772...30,233,145
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G |
CORO1A |
coronin 1A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,550,383...30,556,196
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G |
DOC2A |
double C2 domain alpha |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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Ensembl chr16:30,378,922...30,384,142
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G |
GDPD3 |
glycerophosphodiester phosphodiesterase domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,479,684...30,488,868
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G |
HIRIP3 |
HIRA interacting protein 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,365,725...30,369,486
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G |
INO80E |
INO80 complex subunit E |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,369,610...30,379,198
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G |
KCTD13 |
potassium channel tetramerization domain containing 13 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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G |
KIF22 |
kinesin family member 22 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,161,702...30,177,170
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G |
LAT |
linker for activation of T cells |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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G |
LOC100995352 |
keratin-associated protein 10-2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 |
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G |
LOC103783265 |
pulmonary surfactant-associated 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 chr10:76,571,312...76,575,820
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G |
LOC117978925 |
nuclear pore complex-interacting protein family member A7 |
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ISO |
ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
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G |
MAPK3 |
mitogen-activated protein kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,489,362...30,498,017
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G |
MAZ |
MYC associated zinc finger protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,049,806...30,070,469
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G |
MVP |
major vault protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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Ensembl chr16:30,190,090...30,219,070
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G |
MVP-DT |
MVP divergent transcript |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 |
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G |
NFATC2IP |
nuclear factor of activated T cells 2 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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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:25741868 PMID:31690835 |
|
Ensembl chr16:30,186,326...30,190,654
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G |
PPP4C |
protein phosphatase 4 catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,450,467...30,464,446
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G |
PRRT2 |
proline rich transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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Ensembl chr16:30,183,352...30,187,862
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G |
QPRT |
quinolinate phosphoribosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
Ensembl chr16:30,049,806...30,070,469
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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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Ensembl chr16:29,289,949...29,314,177
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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:25741868 PMID:31690835 |
|
Ensembl chr16:30,240,276...30,267,689
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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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Ensembl chr16:29,249,597...29,263,334
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G |
SLX1A |
SLX1 homolog A, structure-specific endonuclease subunit |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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G |
SPN |
sialophorin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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Ensembl chr16:30,035,243...30,036,445
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G |
SPNS1 |
SPNS lysolipid transporter 1, lysophospholipid |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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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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G |
SULT1A3 |
sulfotransferase family 1A member 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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G |
TAOK2 |
TAO kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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Ensembl chr16:30,347,229...30,366,743
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G |
TBX6 |
T-box transcription factor 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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Ensembl chr16:30,460,305...30,467,070
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G |
TLCD3B |
TLC domain containing 3B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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Ensembl chr16:30,399,815...30,406,663
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G |
TMEM219 |
transmembrane protein 219 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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Ensembl chr16:30,327,890...30,346,316
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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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Ensembl chr16:29,227,852...29,233,513
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G |
YPEL3 |
yippee like 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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Ensembl chr16:30,467,490...30,471,256
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G |
ZG16 |
zymogen granule protein 16 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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Ensembl chr16:30,149,307...30,151,579
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G |
CDR2 |
cerebellar degeneration related protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb |
ClinVar |
PMID:25741868 |
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NCBI chr16:16,305,281...16,385,601
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G |
EEF2K |
eukaryotic elongation factor 2 kinase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb |
ClinVar |
PMID:25741868 |
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NCBI chr16:16,443,579...16,526,061
Ensembl chr16:22,537,518...22,596,091
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G |
LOC100972888 |
cytochrome b-c1 complex subunit 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb |
ClinVar |
PMID:25741868 |
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NCBI chr16:16,750,102...16,780,867
Ensembl chr16:22,263,433...22,294,137
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G |
MOSMO |
modulator of smoothened |
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ISO |
ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb |
ClinVar |
PMID:25741868 |
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NCBI chr16:16,645,508...16,725,434
Ensembl chr16:22,319,108...22,395,805
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G |
PDZD9 |
PDZ domain containing 9 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb |
ClinVar |
PMID:25741868 |
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NCBI chr16:16,731,845...16,775,963
Ensembl chr16:22,294,635...22,311,852
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G |
POLR3E |
RNA polymerase III subunit E |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb |
ClinVar |
PMID:25741868 |
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NCBI chr16:16,397,988...16,434,949
Ensembl chr16:22,609,181...22,645,511
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G |
SDR42E2 |
short chain dehydrogenase/reductase family 42E, member 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb |
ClinVar |
PMID:25741868 |
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NCBI chr16:16,540,166...16,569,799
Ensembl chr16:22,477,440...22,502,105
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G |
VWA3A |
von Willebrand factor A domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb |
ClinVar |
PMID:25741868 |
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NCBI chr16:16,575,765...16,640,697
Ensembl chr16:22,403,518...22,468,186
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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 chr16:48,001,408...48,004,620
Ensembl chr16:67,390,703...67,393,685
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G |
C16H16orf86 |
chromosome 16 C16orf86 homolog |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr16:48,010,721...48,012,660
Ensembl chr16:67,400,057...67,401,999
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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 chr16:47,989,040...48,001,455
Ensembl chr16:67,378,353...67,390,709
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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 chr16:47,906,503...47,983,271
Ensembl chr16:67,302,952...67,372,041
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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 chr16:48,006,827...48,010,646
Ensembl chr16:67,396,162...67,399,956
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G |
GFOD2 |
Gfo/Idh/MocA-like oxidoreductase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr16:48,018,181...48,067,345
Ensembl chr16:67,407,669...67,456,632
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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 |
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NCBI chr16:48,004,822...48,006,656
Ensembl chr16:67,394,252...67,395,991
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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 chr16:48,071,095...48,148,105
Ensembl chr16:67,460,311...67,536,892
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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 chr17:11,508,245...11,705,023
Ensembl chr17:11,296,318...11,456,593
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G |
TP53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14961032 |
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NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120
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G |
RNF135 |
ring finger protein 135 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome |
ClinVar |
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 PMID:30665703 PMID:30763456 More...
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NCBI chr17:25,843,447...25,869,874
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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 chr17:20,027,351...20,129,255
Ensembl chr17:20,325,282...20,426,359
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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 chr17:19,670,114...19,998,903
Ensembl chr17:19,969,205...20,297,651
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G |
C17H17orf78 |
chromosome 17 C17orf78 homolog |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr17:19,690,994...19,704,223
Ensembl chr17:19,986,722...20,003,170
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G |
CCL18 |
C-C motif chemokine ligand 18 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr17:20,723,413...20,730,633
Ensembl chr17:21,019,868...21,027,070
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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 chr17:19,433,036...19,466,975
Ensembl chr17:19,734,588...19,763,689
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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 chr17:20,480,754...20,489,736
Ensembl chr17:20,776,083...20,784,789
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DUSP14 |
dual specificity phosphatase 14 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr17:19,562,013...19,585,798
Ensembl chr17:19,862,235...19,862,831
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GGNBP2 |
gametogenetin binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr17:20,491,687...20,537,516
Ensembl chr17:20,786,936...20,831,055
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HNF1B |
HNF1 homeobox B |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr17:19,333,485...19,392,147
Ensembl chr17:19,633,424...19,691,863
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LHX1 |
LIM homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr17:20,134,308...20,140,652
Ensembl chr17:20,430,618...20,437,751
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LOC100992309 |
C-C motif chemokine 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr17:20,704,738...20,706,641
Ensembl chr17:21,000,709...21,002,610
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LOC117974322 |
C-C motif chemokine 4 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr17:20,689,341...20,691,921
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MRM1 |
mitochondrial rRNA methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr17:20,472,593...20,479,991
Ensembl chr17:20,767,988...20,775,308
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MRPL45 |
mitochondrial ribosomal protein L45 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr17:18,949,525...18,974,651
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MYO19 |
myosin XIX |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr17:20,546,652...20,586,131
Ensembl chr17:20,840,913...20,880,242
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PIGW |
phosphatidylinositol glycan anchor biosynthesis class W |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr17:20,542,694...20,547,347
Ensembl chr17:20,837,769...20,839,283
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SYNRG |
synergin gamma |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr17:19,467,539...19,560,618
Ensembl chr17:19,768,058...19,860,323
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TADA2A |
transcriptional adaptor 2A |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr17:19,595,055...19,670,090
Ensembl chr17:19,897,659...19,967,926
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ZNHIT3 |
zinc finger HIT-type containing 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr17:20,583,614...20,595,332
Ensembl chr17:20,878,333...20,889,078
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AFG3L2 |
AFG3 like matrix AAA peptidase subunit 2 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:1,951,279...1,999,313
Ensembl chr18:17,062,250...17,109,400
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AKAIN1 |
A-kinase anchor inhibitor 1 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:9,083,750...9,138,400
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ANKRD12 |
ankyrin repeat domain 12 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:5,002,212...5,153,112
Ensembl chr18:7,287,287...7,385,041
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ANKRD62 |
ankyrin repeat domain 62 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:2,191,716...2,231,178
Ensembl chr18:4,456,082...4,493,924
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APCDD1 |
APC down-regulated 1 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:3,799,425...3,834,557
Ensembl chr18:6,083,649...6,117,276
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ARHGAP28 |
Rho GTPase activating protein 28 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:7,366,986...7,548,782
Ensembl chr18:9,690,107...9,775,270
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CEP192 |
centrosomal protein 192 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:1,205,747...1,339,267
Ensembl chr18:16,327,808...16,452,575
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CEP76 |
centrosomal protein 76 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:1,620,954...1,650,498
Ensembl chr18:16,735,827...16,765,269
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CHMP1B |
charged multivesicular body protein 1B |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:2,452,393...2,455,509
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CIDEA |
cell death inducing DFFA like effector a |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:2,051,880...2,075,909
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DLGAP1 |
DLG associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:9,816,171...10,781,490
Ensembl chr18:12,704,306...13,091,118
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EMILIN2 |
elastin microfibril interfacer 2 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:11,368,328...11,435,808
Ensembl chr18:13,678,772...13,743,346
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EPB41L3 |
erythrocyte membrane protein band 4.1 like 3 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:8,656,684...8,894,170
Ensembl chr18:10,993,680...11,210,416
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FAM210A |
family with sequence similarity 210 member A |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:598,267...657,131
Ensembl chr18:2,767,335...2,827,533
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GNAL |
G protein subunit alpha L |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:2,420,578...2,615,947
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IMPA2 |
inositol monophosphatase 2 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:2,293,788...2,344,422
Ensembl chr18:4,557,280...4,608,991
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L3MBTL4 |
L3MBTL histone methyl-lysine binding protein 4 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:7,861,424...8,338,011
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LAMA1 |
laminin subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:7,159,568...7,335,363
Ensembl chr18:9,482,895...9,656,800
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LDLRAD4 |
low density lipoprotein receptor class A domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:669,862...1,110,558
Ensembl chr18:2,845,198...2,879,363
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LOC100977910 |
myosin regulatory light chain 12B |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:10,999,849...11,016,059
Ensembl chr18:13,308,356...13,324,754
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LPIN2 |
lipin 2 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:11,270,941...11,367,312
Ensembl chr18:13,608,883...13,675,165
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LRRC30 |
leucine rich repeat containing 30 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:7,042,813...7,043,785
Ensembl chr18:9,367,147...9,368,052
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MC2R |
melanocortin 2 receptor |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:409,141...442,578
Ensembl chr18:2,608,691...2,609,584
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MC5R |
melanocortin 5 receptor |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:495,561...501,555
Ensembl chr18:2,668,394...2,669,371
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MPPE1 |
metallophosphoesterase 1 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:2,397,423...2,423,209
Ensembl chr18:4,662,348...4,686,262
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MTCL1 |
microtubule crosslinking factor 1 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:5,454,320...5,580,020
Ensembl chr18:7,737,903...7,906,958
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MYOM1 |
myomesin 1 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:11,057,733...11,215,998
Ensembl chr18:13,368,052...13,523,834
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NAPG |
NSF attachment protein gamma |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:3,737,245...3,764,064
Ensembl chr18:6,020,592...6,047,429
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NDUFV2 |
NADH:ubiquinone oxidoreductase core subunit V2 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:5,154,158...5,186,088
Ensembl chr18:7,433,167...7,464,884
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PIEZO2 |
piezo type mechanosensitive ion channel component 2 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:3,141,285...3,619,885
Ensembl chr18:5,407,467...5,882,928
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PPP4R1 |
protein phosphatase 4 regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:4,671,010...4,742,301
Ensembl chr18:6,974,934...7,022,996
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PRELID3A |
PRELI domain containing 3A |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:1,895,635...1,920,455
Ensembl chr18:17,006,556...17,021,984
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PSMG2 |
proteasome assembly chaperone 2 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:1,597,981...1,620,721
Ensembl chr18:16,713,534...16,735,531
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PTPN2 |
protein tyrosine phosphatase non-receptor type 2 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:1,440,837...1,538,501
Ensembl chr18:16,562,052...16,659,570
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PTPRM |
protein tyrosine phosphatase receptor type M |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:5,879,556...6,706,824
Ensembl chr18:8,206,677...9,030,286
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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 chr18:5,646,023...5,675,920
Ensembl chr18:7,972,938...8,027,500
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RAB31 |
RAB31, 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 chr18:4,424,677...4,578,263
Ensembl chr18:6,710,174...6,859,896
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RALBP1 |
ralA binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr18:4,747,555...4,810,710
Ensembl chr18:7,028,188...7,090,934
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