RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | Aneuploidy |
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Accession: | DOID:9008692
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browse the term
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Definition: | The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1). |
Synonyms: | exact_synonym: | Aneuploid; Aneuploid Cell; Aneuploid Cells; Aneuploidies; Aneuploids |
| primary_id: | MESH:D000782; RDO:0000372 |
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AURKA |
aurora kinase A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24976383 |
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NCBI chr17:56,954,838...56,972,435
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BUB1B |
BUB1 mitotic checkpoint serine/threonine kinase B |
susceptibility |
ISO |
DNA:missense mutation: ; mosaic variegated aneuploidy syndrome, OMIM:257300 |
RGD |
PMID:15475955 |
RGD:1600540 |
NCBI chr 1:131,093,026...131,143,840
Ensembl chr 1:131,092,958...131,143,794
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CKAP5 |
cytoskeleton associated protein 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24976383 |
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NCBI chr 2:15,680,723...15,790,580
Ensembl chr 2:15,680,787...15,790,569
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KIF11 |
kinesin family member 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17974955 |
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NCBI chr14:104,125,839...104,177,381
Ensembl chr14:104,125,898...104,177,379
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TLX1 |
T cell leukemia homeobox 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20972433 |
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NCBI chr14:112,206,964...112,213,957
Ensembl chr14:112,207,360...112,213,955
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TRIP13 |
thyroid hormone receptor interactor 13 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28553959 |
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NCBI chr16:79,458,843...79,473,705
Ensembl chr16:79,458,847...79,473,712
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ALDOA |
aldolase, fructose-bisphosphate A |
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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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NCBI chr 3:18,246,036...18,260,167
Ensembl chr 3:18,253,384...18,260,163
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ASPHD1 |
aspartate beta-hydroxylase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 3:18,120,915...18,124,519
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ATP2A1 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 3:18,545,064...18,568,312
Ensembl chr 3:18,545,071...18,568,310
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ATXN2L |
ataxin 2 like |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 3:18,506,082...18,519,060
Ensembl chr 3:18,506,052...18,519,056
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BOLA2B |
bolA family member 2B |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:18,345,691...18,351,508
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C3H16orf54 |
chromosome 3 C16orf54 homolog |
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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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NCBI chr 3:18,011,402...18,014,281
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C3H16orf92 |
chromosome 3 C16orf92 homolog |
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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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NCBI chr 3:18,222,923...18,223,528
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CD19 |
CD19 molecule |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 3:18,592,785...18,601,273
Ensembl chr 3:18,592,880...18,601,263
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CDIPT |
CDP-diacylglycerol--inositol 3-phosphatidyltransferase |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 3:18,087,497...18,095,015
Ensembl chr 3:18,084,549...18,091,798
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CORO1A |
coronin 1A |
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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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NCBI chr 3:18,336,813...18,342,381
Ensembl chr 3:18,336,898...18,342,396
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DOC2A |
double C2 domain alpha |
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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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NCBI chr 3:18,211,264...18,216,096
Ensembl chr 3:18,210,965...18,216,102
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GDPD3 |
glycerophosphodiester phosphodiesterase domain containing 3 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 3:18,282,574...18,291,307
Ensembl chr 3:18,282,889...18,292,092
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HIRIP3 |
HIRA interacting protein 3 |
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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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NCBI chr 3:18,198,809...18,201,907
Ensembl chr 3:18,198,807...18,202,089
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INO80E |
INO80 complex subunit E |
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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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NCBI chr 3:18,202,092...18,212,187
Ensembl chr 3:18,202,134...18,212,186
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KCTD13 |
potassium channel tetramerization domain containing 13 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 3:18,124,628...18,141,589
Ensembl chr 3:18,124,573...18,141,565
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KIF22 |
kinesin family member 22 |
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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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NCBI chr 3:18,023,104...18,041,732
Ensembl chr 3:18,023,096...18,041,730
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LAT |
linker for activation of T cells |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 3:18,638,992...18,644,353
Ensembl chr 3:18,639,151...18,644,348
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MAPK3 |
mitogen-activated protein kinase 3 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567
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MAZ |
MYC associated zinc finger protein |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 3:18,043,032...18,047,531
Ensembl chr 3:18,042,007...18,047,530
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MVP |
major vault protein |
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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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NCBI chr 3:18,056,548...18,081,169
Ensembl chr 3:18,057,177...18,081,155
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NFATC2IP |
nuclear factor of activated T cells 2 interacting protein |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 3:18,609,943...18,624,150
Ensembl chr 3:18,609,912...18,622,640
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PAGR1 |
PAXIP1 associated glutamate rich protein 1 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 3:18,052,679...18,056,920
Ensembl chr 3:18,052,935...18,056,837
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PPP4C |
protein phosphatase 4 catalytic subunit |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 3:18,262,817...18,271,588
Ensembl chr 3:18,262,823...18,271,586
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PRRT2 |
proline rich transmembrane protein 2 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 3:18,048,614...18,052,481
Ensembl chr 3:18,048,618...18,052,480
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QPRT |
quinolinate phosphoribosyltransferase |
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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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NCBI chr 3:17,987,223...18,001,712
Ensembl chr 3:17,987,242...18,001,711
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RABEP2 |
rabaptin, RAB GTPase binding effector protein 2 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 3:18,568,264...18,586,259
Ensembl chr 3:18,568,266...18,585,925
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SEZ6L2 |
seizure related 6 homolog like 2 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 3:18,098,109...18,119,522
Ensembl chr 3:18,098,102...18,119,558
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SFTPA1 |
surfactant protein A1 |
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ISO |
ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 |
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NCBI chr14:82,091,178...82,095,393
Ensembl chr14:82,091,178...82,095,393
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SH2B1 |
SH2B adaptor protein 1 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 3:18,533,282...18,543,133
Ensembl chr 3:18,524,820...18,543,135
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SLX1A |
SLX1 homolog A, structure-specific endonuclease subunit |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:18,346,501...18,349,509
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SPN |
sialophorin |
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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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NCBI chr 3:17,978,731...17,982,222
Ensembl chr 3:17,978,801...17,982,864
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SPNS1 |
SPNS lysolipid transporter 1, lysophospholipid |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 3:18,629,646...18,638,442
Ensembl chr 3:18,629,646...18,639,214
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TAOK2 |
TAO kinase 2 |
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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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NCBI chr 3:18,178,347...18,198,092
Ensembl chr 3:18,177,737...18,198,085
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TBX6 |
T-box transcription factor 6 |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome | ClinVar Annotator: match by term: CHROMOSOME 16p11.2 DELETION SYNDROME, 593-KB |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 3:18,271,983...18,277,864
Ensembl chr 3:18,271,983...18,277,580
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TLCD3B |
TLC domain containing 3B |
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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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NCBI chr 3:18,224,652...18,231,416
Ensembl chr 3:18,223,875...18,231,844
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TMEM219 |
transmembrane protein 219 |
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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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NCBI chr 3:18,166,771...18,177,834
Ensembl chr 3:18,167,923...18,176,563
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TUFM |
Tu translation elongation factor, mitochondrial |
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ISO |
ClinVar Annotator: match by term: 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 3:18,521,119...18,524,705
Ensembl chr 3:18,521,128...18,524,959
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YPEL3 |
yippee like 3 |
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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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NCBI chr 3:18,277,999...18,281,342
Ensembl chr 3:18,278,002...18,281,298
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ZG16 |
zymogen granule protein 16 |
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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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NCBI chr 3:18,018,866...18,019,501
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ACSF3 |
acyl-CoA synthetase family member 3 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 6:663,201...708,800
Ensembl chr 6:663,123...709,186
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ANKRD11 |
ankyrin repeat domain containing 11 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 6:455,856...612,878
Ensembl chr 6:455,851...612,868
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APRT |
adenine phosphoribosyltransferase |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 6:890,272...893,278
Ensembl chr 6:890,831...893,276
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BANP |
BTG3 associated nuclear protein |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 6:1,421,460...1,495,484
Ensembl chr 6:1,421,462...1,495,486
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C6H16orf95 |
chromosome 6 C16orf95 homolog |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 6:1,996,457...2,013,709
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CA5A |
carbonic anhydrase 5A |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 6:1,495,615...1,539,390
Ensembl chr 6:1,506,042...1,538,777
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CBFA2T3 |
CBFA2/RUNX1 partner transcriptional co-repressor 3 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 6:779,164...854,449
Ensembl chr 6:779,366...853,822
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CDH15 |
cadherin 15 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 6:636,350...652,260
Ensembl chr 6:636,377...652,165
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CDT1 |
chromatin licensing and DNA replication factor 1 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 6:893,377...897,706
Ensembl chr 6:893,381...897,934
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CPNE7 |
copine 7 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 6:393,756...410,781
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CTU2 |
cytosolic thiouridylase subunit 2 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 6:964,551...976,881
Ensembl chr 6:964,566...976,832
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CYBA |
cytochrome b-245 alpha chain |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 6:1,015,212...1,021,422
Ensembl chr 6:1,015,162...1,021,420
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FBXO31 |
F-box protein 31 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 6:1,949,254...1,995,459
Ensembl chr 6:1,949,276...1,995,462
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GALNS |
galactosamine (N-acetyl)-6-sulfatase |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 6:869,284...890,137
Ensembl chr 6:869,244...890,134
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IL17C |
interleukin 17C |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 6:1,023,330...1,025,173
Ensembl chr 6:1,022,937...1,025,161
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JPH3 |
junctophilin 3 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 6:1,677,132...1,767,010
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KLHDC4 |
kelch domain containing 4 |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 6:1,627,054...1,672,328
Ensembl chr 6:1,617,653...1,677,127
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MAP1LC3B |
microtubule associated protein 1 light chain 3 beta |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 6:1,919,879...1,941,069
Ensembl chr 6:1,915,387...1,941,069
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MVD |
mevalonate diphosphate decarboxylase |
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ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
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NCBI chr 6:1,008,100...1,014,303
Ensembl chr 6:1,008,100...1,014,303
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G |
PABPN1L |
PABPN1 like, cytoplasmic |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr 6:854,605...861,969
Ensembl chr 6:858,888...861,604
|
|
G |
PIEZO1 |
piezo type mechanosensitive ion channel component 1 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr 6:914,480...967,113
Ensembl chr 6:914,709...967,111
|
|
G |
RNF166 |
ring finger protein 166 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
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NCBI chr 6:976,957...982,997
Ensembl chr 6:976,980...982,995
|
|
G |
RPL13 |
ribosomal protein L13 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr 6:410,923...413,396
|
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G |
SLC7A5 |
solute carrier family 7 member 5 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr 6:1,545,940...1,574,298
Ensembl chr 6:1,545,944...1,574,285
|
|
G |
SNAI3 |
snail family transcriptional repressor 3 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr 6:988,975...996,268
Ensembl chr 6:988,990...996,247
|
|
G |
SPG7 |
SPG7 matrix AAA peptidase subunit, paraplegin |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr 6:414,930...439,206
Ensembl chr 6:414,932...439,212
|
|
G |
TRAPPC2L |
trafficking protein particle complex subunit 2L |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr 6:865,498...869,253
Ensembl chr 6:863,805...869,226
|
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G |
ZC3H18 |
zinc finger CCCH-type containing 18 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr 6:1,030,416...1,081,541
Ensembl chr 6:1,030,418...1,081,538
|
|
G |
ZCCHC14 |
zinc finger CCHC-type containing 14 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr 6:1,849,974...1,917,601
Ensembl chr 6:1,850,051...1,918,704
|
|
G |
ZFPM1 |
zinc finger protein, FOG family member 1 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr 6:1,091,158...1,153,972
Ensembl chr 6:1,091,259...1,107,096
|
|
G |
ZNF469 |
zinc finger protein 469 |
|
ISO |
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome |
ClinVar |
|
|
NCBI chr 6:1,161,514...1,208,406
Ensembl chr 6:1,162,822...1,174,257
|
|
|
G |
ABL2 |
ABL proto-oncogene 2, non-receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:120,888,891...120,984,724
Ensembl chr 9:120,892,952...120,984,695
|
|
G |
ACBD6 |
acyl-CoA binding domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:121,913,050...122,116,031
Ensembl chr 9:121,913,053...122,115,783
|
|
G |
ANGPTL1 |
angiopoietin like 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:120,656,313...120,684,313
Ensembl chr 9:120,654,092...120,680,390
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|
G |
ASTN1 |
astrotactin 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:118,649,144...118,969,032
Ensembl chr 9:118,646,910...118,968,970
|
|
G |
ATP1B1 |
ATPase Na+/K+ transporting subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:81,912,543...81,937,015
Ensembl chr 4:81,911,561...81,991,840
|
|
G |
AXDND1 |
axonemal dynein light chain domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:121,120,031...121,209,686
Ensembl chr 9:121,120,235...121,223,059
|
|
G |
BLZF1 |
basic leucine zipper nuclear factor 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:81,597,312...81,639,788
Ensembl chr 4:81,571,300...81,639,577
|
|
G |
BRINP2 |
BMP/retinoic acid inducible neural specific 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:118,967,670...119,095,345
Ensembl chr 9:118,975,719...119,095,336
|
|
G |
C9H1orf105 |
chromosome 9 C1orf105 homolog |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:114,828,414...114,850,267
Ensembl chr 9:114,814,030...114,851,040
|
|
G |
CACNA1E |
calcium voltage-gated channel subunit alpha1 E |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:122,827,386...123,318,372
Ensembl chr 9:123,006,195...123,315,319
|
|
G |
CACYBP |
calcyclin binding protein |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 9:117,062,303...117,077,442
Ensembl chr 9:117,064,187...117,123,126
|
|
G |
CCDC181 |
coiled-coil domain containing 181 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:81,561,007...81,593,922
Ensembl chr 4:81,561,103...81,593,922
|
|
G |
CENPL |
centromere protein L |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 9:116,090,868...116,109,822
Ensembl chr 9:116,090,870...116,109,483
|
|
G |
CEP350 |
centrosomal protein 350 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:121,590,674...121,744,860
Ensembl chr 9:121,590,420...121,741,158
|
|
G |
COP1 |
COP1 E3 ubiquitin ligase |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:117,913,504...118,114,268
Ensembl chr 9:117,915,443...118,114,259
|
|
G |
DARS2 |
aspartyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 9:116,109,970...116,140,635
Ensembl chr 9:116,109,986...116,140,627
|
|
G |
DHX9 |
DExH-box helicase 9 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:124,141,929...124,183,838
Ensembl chr 9:124,141,967...124,185,349
|
|
G |
DNM3 |
dynamin 3 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:114,262,782...114,805,252
Ensembl chr 9:114,262,791...114,797,674
|
|
G |
F5 |
coagulation factor V |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,274...81,485,066
|
|
G |
FAM163A |
family with sequence similarity 163 member A |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:121,378,101...121,460,641
Ensembl chr 9:121,380,415...121,461,054
|
|
G |
FAM20B |
FAM20B glycosaminoglycan xylosylkinase |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:120,809,706...120,854,967
Ensembl chr 9:120,809,964...120,854,961
|
|
G |
FASLG |
Fas ligand |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:115,068,314...115,075,147
Ensembl chr 9:115,068,090...115,076,464
|
|
G |
FIRRM |
FIGNL1 interacting regulator of recombination and mitosis |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:81,174,911...81,216,094
Ensembl chr 4:81,175,541...81,216,096
|
|
G |
FMO1 |
flavin containing dimethylaniline monoxygenase 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:63,860,957...63,895,086
Ensembl chr 9:63,868,064...63,895,076
|
|
G |
FMO2 |
flavin containing dimethylaniline monoxygenase 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:63,812,016...63,857,608
Ensembl chr 9:63,812,492...63,852,085
|
|
G |
FMO3 |
flavin containing dimethylaniline monoxygenase 3 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:63,757,928...63,777,075
Ensembl chr 9:63,757,964...63,777,279
|
|
G |
FMO4 |
flavin containing dimethylaniline monoxygenase 4 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:63,908,846...63,934,985
Ensembl chr 9:63,908,868...63,934,982
|
|
G |
GLUL |
glutamate-ammonia ligase |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:123,751,551...123,762,575
Ensembl chr 9:123,751,548...123,762,547
|
|
G |
GORAB |
golgin, RAB6 interacting |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:80,568,535...80,590,709
Ensembl chr 4:80,568,859...80,590,679
|
|
G |
GPR52 |
G protein-coupled receptor 52 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 9:116,639,223...116,648,001
Ensembl chr 9:116,643,037...116,647,996
|
|
G |
IER5 |
immediate early response 5 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:122,633,781...122,635,950
Ensembl chr 9:122,633,781...122,635,948
|
|
G |
KIAA0040 |
KIAA0040 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 9:117,253,805...117,288,348
Ensembl chr 9:117,253,831...117,287,741
|
|
G |
KIAA1614 |
KIAA1614 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:122,484,049...122,523,072
Ensembl chr 9:122,484,004...122,523,063
|
|
G |
KIFAP3 |
kinesin associated protein 3 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:80,922,032...81,105,135
Ensembl chr 4:80,921,682...81,108,360
|
|
G |
KLHL20 |
kelch like family member 20 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 9:116,005,562...116,083,478
Ensembl chr 9:116,005,574...116,083,452
|
|
G |
LAMC1 |
laminin subunit gamma 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:124,283,668...124,405,967
Ensembl chr 9:124,283,224...124,405,964
|
|
G |
LAMC2 |
laminin subunit gamma 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:124,427,545...124,499,672
Ensembl chr 9:124,435,807...124,495,351
|
|
G |
LHX4 |
LIM homeobox 4 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:121,850,997...121,898,622
Ensembl chr 9:121,851,270...121,897,211
|
|
G |
LOC100624136 |
ankyrin repeat domain-containing protein 45 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 9:115,868,345...115,987,710
Ensembl chr 9:115,948,210...115,987,643
|
|
G |
METTL13 |
methyltransferase 13, eEF1A N-terminus and K55 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:114,202,494...114,218,371
Ensembl chr 9:114,202,484...114,218,368
|
|
G |
METTL18 |
methyltransferase 18, RPL3 N3(tau)-histidine |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:81,216,107...81,218,595
Ensembl chr 4:81,216,430...81,220,449
|
|
G |
MIR199A-1 |
microRNA mir-199a-1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:114,533,783...114,533,858
Ensembl chr 9:114,533,777...114,533,880
|
|
G |
MIR214 |
microRNA mir-214 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:114,527,992...114,528,101
Ensembl chr 9:114,527,990...114,528,101
|
|
G |
MR1 |
major histocompatibility complex, class I-related |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:122,592,510...122,611,462
Ensembl chr 9:122,592,532...122,609,022
|
|
G |
MROH9 |
maestro heat like repeat family member 9 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:63,620,228...63,727,120
Ensembl chr 9:63,620,228...63,727,022
|
|
G |
MRPS14 |
mitochondrial ribosomal protein S14 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 9:117,097,841...117,137,188
Ensembl chr 9:117,097,849...117,137,110
|
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G |
MYOC |
myocilin |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:114,087,370...114,098,765
Ensembl chr 9:114,087,378...114,098,745
|
|
G |
NCF2 |
neutrophil cytosolic factor 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:124,776,516...124,813,358
Ensembl chr 9:124,776,534...124,812,923
|
|
G |
NME7 |
NME/NM23 family member 7 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:81,639,907...81,912,276
Ensembl chr 4:81,639,909...81,911,743
|
|
G |
NMNAT2 |
nicotinamide nucleotide adenylyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:124,495,464...124,697,911
Ensembl chr 9:124,498,109...124,696,194
|
|
G |
NPHS2 |
NPHS2 stomatin family member, podocin |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:121,217,734...121,236,214
Ensembl chr 9:121,218,369...121,236,430
|
|
G |
NPL |
N-acetylneuraminate pyruvate lyase |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:124,093,579...124,132,862
Ensembl chr 9:124,093,604...124,132,860
|
|
G |
NTMT2 |
N-terminal Xaa-Pro-Lys N-methyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:80,854,850...80,932,412
Ensembl chr 4:80,857,344...80,877,566
|
|
G |
PAPPA2 |
pappalysin 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:118,362,663...118,635,972
Ensembl chr 9:118,365,303...118,635,964
|
|
G |
PIGC |
phosphatidylinositol glycan anchor biosynthesis class C |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:114,824,795...114,827,731
Ensembl chr 9:114,824,802...114,827,413
|
|
G |
PRDX6 |
peroxiredoxin 6 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 9:115,857,629...115,868,898
Ensembl chr 9:115,857,644...115,868,892
|
|
G |
PRRC2C |
proline rich coiled-coil 2C |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:113,973,285...114,067,555
Ensembl chr 9:113,973,325...114,067,553
|
|
G |
PRRX1 |
paired related homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:80,427,682...80,502,689
Ensembl chr 4:80,427,687...80,501,646
|
|
G |
QSOX1 |
quiescin sulfhydryl oxidase 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:121,779,072...121,822,829
Ensembl chr 9:121,779,792...121,822,825
|
|
G |
RABGAP1L |
RAB GTPase activating protein 1 like |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 9:116,402,395...117,060,057
Ensembl chr 9:116,463,779...117,060,053
|
|
G |
RALGPS2 |
Ral GEF with PH domain and SH3 binding motif 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:120,562,294...120,725,275
Ensembl chr 9:120,420,942...120,724,218
|
|
G |
RASAL2 |
RAS protein activator like 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:119,941,303...120,329,817
Ensembl chr 9:119,941,862...120,325,316
|
|
G |
RC3H1 |
ring finger and CCCH-type domains 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 9:116,204,807...116,292,455
Ensembl chr 9:116,208,799...116,292,381
|
|
G |
RGS16 |
regulator of G protein signaling 16 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:123,913,179...123,919,119
Ensembl chr 9:123,913,173...123,918,871
|
|
G |
RGS8 |
regulator of G protein signaling 8 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:123,937,721...124,053,927
Ensembl chr 9:123,955,241...124,047,648
|
|
G |
RGSL1 |
regulator of G protein signaling like 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:123,763,417...123,879,100
Ensembl chr 9:123,814,171...123,879,496
|
|
G |
RNASEL |
ribonuclease L |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:123,895,045...123,910,386
Ensembl chr 9:123,893,294...123,910,398
|
|
G |
SCYL3 |
SCY1 like pseudokinase 3 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:81,134,035...81,175,537
Ensembl chr 4:81,134,352...81,175,536
|
|
G |
SEC16B |
SEC16 homolog B, endoplasmic reticulum export factor |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:119,778,660...119,842,962
Ensembl chr 9:119,778,664...119,842,922
|
|
G |
SELE |
selectin E |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:81,289,061...81,299,657
|
|
G |
SELL |
selectin L |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:81,306,363...81,325,296
Ensembl chr 4:81,306,353...81,326,444
|
|
G |
SELP |
selectin P |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:81,376,804...81,401,240
Ensembl chr 4:81,365,740...81,399,955
|
|
G |
SERPINC1 |
serpin family C member 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 9:116,181,988...116,193,100
Ensembl chr 9:116,181,670...116,193,201
|
|
G |
SHCBP1L |
SHC binding and spindle associated 1 like |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:124,188,457...124,221,850
Ensembl chr 9:124,187,787...124,221,719
|
|
G |
SLC19A2 |
solute carrier family 19 member 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:81,510,221...81,535,099
Ensembl chr 4:81,510,098...81,536,464
|
|
G |
SMG7 |
SMG7 nonsense mediated mRNA decay factor |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:124,696,432...124,775,739
Ensembl chr 9:124,697,093...124,775,964
|
|
G |
SOAT1 |
sterol O-acyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:121,045,211...121,112,393
Ensembl chr 9:121,045,234...121,113,692
|
|
G |
STX6 |
syntaxin 6 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:122,533,737...122,580,631
Ensembl chr 9:122,529,727...122,580,608
|
|
G |
SUCO |
SUN domain containing ossification factor |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:114,916,957...115,007,979
Ensembl chr 9:114,916,855...115,007,972
|
|
G |
TDRD5 |
tudor domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:121,245,080...121,337,339
Ensembl chr 9:121,211,960...121,333,220
|
|
G |
TEDDM1 |
transmembrane epididymal protein 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:123,765,986...123,773,210
Ensembl chr 9:123,770,110...123,770,931
|
|
G |
TEX35 |
testis expressed 35 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:120,351,958...120,377,900
Ensembl chr 9:120,367,303...120,377,810
|
|
G |
TNFSF18 |
TNF superfamily member 18 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 9:115,447,438...115,460,649
Ensembl chr 9:115,448,973...115,460,950
|
|
G |
TNFSF4 |
TNF superfamily member 4 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 9:115,535,185...115,857,457
Ensembl chr 9:115,550,569...115,659,263
|
|
G |
TNN |
tenascin N |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 9:117,174,743...117,244,041
Ensembl chr 9:117,137,250...117,243,815
|
|
G |
TNR |
tenascin R |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 9:117,365,930...117,790,332
Ensembl chr 9:117,373,545...117,771,224
|
|
G |
TOR1AIP1 |
torsin 1A interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:121,515,691...121,566,799
Ensembl chr 9:121,515,570...121,566,796
|
|
G |
TOR1AIP2 |
torsin 1A interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:121,476,501...121,516,611
Ensembl chr 9:121,476,503...121,518,506
|
|
G |
TOR3A |
torsin family 3 member A |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:120,859,834...120,885,925
Ensembl chr 9:120,860,104...120,885,919
|
|
G |
VAMP4 |
vesicle associated membrane protein 4 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:114,138,350...114,174,996
Ensembl chr 9:114,138,330...114,174,979
|
|
G |
XPR1 |
xenotropic and polytropic retrovirus receptor 1 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:122,237,954...122,461,669
Ensembl chr 9:122,237,957...122,458,171
|
|
G |
ZBTB37 |
zinc finger and BTB domain containing 37 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:25741868 PMID:26333682 |
|
NCBI chr 9:116,149,234...116,179,437
Ensembl chr 9:116,149,293...116,181,689
|
|
G |
ZNF648 |
zinc finger protein 648 |
|
ISO |
ClinVar Annotator: match by term: 1q24q25 microdeletion syndrome |
ClinVar |
PMID:21548129 PMID:21681106 PMID:26333682 |
|
NCBI chr 9:123,505,789...123,706,692
Ensembl chr 9:123,507,751...123,509,483
|
|
|
G |
FGF8 |
fibroblast growth factor 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12223415 |
|
NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,162...112,814,248
|
|
G |
SIX1 |
SIX homeobox 1 |
|
ISO |
|
RGD |
PMID:21364285 |
RGD:11561941 |
NCBI chr 1:189,620,430...189,624,652
Ensembl chr 1:189,619,855...189,624,651
|
|
G |
TBX1 |
T-box transcription factor 1 |
|
ISO |
|
RGD |
PMID:16452092 |
RGD:155663362 |
NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
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|
|
G |
ANKRD28 |
ankyrin repeat domain 28 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:2,922,855...3,135,743
Ensembl chr13:2,922,853...3,135,709
|
|
G |
BTD |
biotinidase |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:2,840,425...2,902,619
Ensembl chr13:2,840,456...2,959,846
|
|
G |
C13H3orf20 |
chromosome 13 C3orf20 homolog |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:69,777,152...69,888,828
Ensembl chr13:69,788,148...69,895,217
|
|
G |
CAPN7 |
calpain 7 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:2,452,385...2,503,575
Ensembl chr13:2,452,215...2,504,581
|
|
G |
CCDC174 |
coiled-coil domain containing 174 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:69,898,803...69,918,896
Ensembl chr13:69,895,325...69,915,655
|
|
G |
CHCHD4 |
coiled-coil-helix-coiled-coil-helix domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:70,417,326...70,428,923
Ensembl chr13:70,417,326...70,428,922
|
|
G |
COLQ |
collagen like tail subunit of asymmetric acetylcholinesterase |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:2,677,738...2,755,635
Ensembl chr13:2,677,740...2,755,307
|
|
G |
DAZL |
deleted in azoospermia like |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:3,762,896...3,783,848
Ensembl chr13:3,764,784...3,782,818
|
|
G |
DPH3 |
diphthamide biosynthesis 3 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:3,391,833...3,395,856
Ensembl chr13:3,391,823...3,395,856
|
|
G |
EAF1 |
ELL associated factor 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:2,654,829...2,671,140
Ensembl chr13:2,654,630...2,671,132
|
|
G |
EFHB |
EF-hand domain family member B |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:6,826,023...6,898,763
Ensembl chr13:6,824,503...6,898,764
|
|
G |
FBLN2 |
fibulin 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:70,757,255...70,830,430
Ensembl chr13:70,757,265...70,830,388
|
|
G |
FGD5 |
FYVE, RhoGEF and PH domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:69,594,225...69,724,051
Ensembl chr13:69,594,223...69,724,056
|
|
G |
GALNT15 |
polypeptide N-acetylgalactosaminyltransferase 15 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:3,329,824...3,371,094
Ensembl chr13:3,330,023...3,371,091
|
|
G |
GRIP2 |
glutamate receptor interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:69,949,608...70,088,719
Ensembl chr13:69,988,459...70,088,718
|
|
G |
HACL1 |
2-hydroxyacyl-CoA lyase 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:2,786,007...2,840,882
Ensembl chr13:2,766,514...2,840,902
|
|
G |
HDAC11 |
histone deacetylase 11 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:70,860,650...70,879,863
Ensembl chr13:70,860,658...70,879,856
|
|
G |
KAT2B |
lysine acetyltransferase 2B |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:6,985,151...7,099,771
Ensembl chr13:6,985,235...7,100,345
|
|
G |
KCNH8 |
potassium voltage-gated channel subfamily H member 8 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:6,104,382...6,533,505
Ensembl chr13:6,104,537...6,532,592
|
|
G |
LSM3 |
LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:70,339,685...70,349,802
Ensembl chr13:70,336,907...70,348,651
|
|
G |
METTL6 |
methyltransferase 6, tRNA N3-cytidine |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:2,638,972...2,654,845
Ensembl chr13:2,638,389...2,654,836
|
|
G |
MRPS25 |
mitochondrial ribosomal protein S25 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:69,441,100...69,465,912
Ensembl chr13:69,441,116...69,467,895
|
|
G |
NR2C2 |
nuclear receptor subfamily 2 group C member 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:69,464,798...69,577,638
Ensembl chr13:69,464,795...69,576,946
|
|
G |
NUP210 |
nucleoporin 210 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:70,917,464...71,007,273
Ensembl chr13:70,917,477...71,007,271
|
|
G |
OXNAD1 |
oxidoreductase NAD binding domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:3,395,886...3,437,074
Ensembl chr13:3,396,097...3,437,070
|
|
G |
PLCL2 |
phospholipase C like 2 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:3,992,230...4,201,574
Ensembl chr13:3,992,835...4,201,569
|
|
G |
PP2D1 |
protein phosphatase 2C like domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:6,939,990...6,958,513
Ensembl chr13:6,939,517...6,961,810
|
|
G |
RAB5A |
RAB5A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:6,905,302...6,940,165
Ensembl chr13:6,905,390...6,941,423
|
|
G |
RBSN |
rabenosyn, RAB effector |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:69,403,995...69,434,829
Ensembl chr13:69,404,021...69,434,829
|
|
G |
RFTN1 |
raftlin, lipid raft linker 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:3,454,448...3,675,072
Ensembl chr13:3,454,454...3,674,998
|
|
G |
SATB1 |
SATB homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr13:5,315,985...5,410,686
Ensembl chr13:5,314,148...5,417,610
|
|
G |
SETD5 |
SET domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:21681106 |
|
NCBI chr13:65,759,973...65,851,747
Ensembl chr13:65,759,987...65,850,506
|
|
G |
SH3BP5 |
SH3 domain binding protein 5 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr13:2,504,282...2,585,601
Ensembl chr13:2,506,156...2,585,526
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G |
SLC6A6 |
solute carrier family 6 member 6 |
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ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr13:70,094,073...70,173,581
Ensembl chr13:70,094,079...70,173,582
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G |
TBC1D5 |
TBC1 domain family member 5 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr13:4,191,544...4,738,448
Ensembl chr13:4,201,255...4,633,312
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G |
THUMPD3 |
THUMP domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:21681106 |
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NCBI chr13:65,720,556...65,747,989
Ensembl chr13:65,721,475...65,747,076
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G |
TMEM43 |
transmembrane protein 43 |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr13:70,397,069...70,417,213
Ensembl chr13:70,393,227...70,417,168
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G |
WNT7A |
Wnt family member 7A |
|
ISO |
ClinVar Annotator: match by term: 3p- syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr13:70,538,802...70,602,464
Ensembl chr13:70,538,894...70,602,454
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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 |
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NCBI chr13:70,348,841...70,397,194
Ensembl chr13:70,348,864...70,397,772
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G |
SOX9 |
SRY-box transcription factor 9 |
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ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 10 |
ClinVar |
PMID:567843 PMID:6620326 PMID:22051515 PMID:25604083 |
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NCBI chr12:8,642,154...8,647,315
Ensembl chr12:8,642,158...8,647,315
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G |
DMRT1 |
doublesex and mab-3 related transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: 46,XY sex reversal 4 |
ClinVar |
PMID:25741868 |
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NCBI chr 1:220,841,485...220,953,442
Ensembl chr 1:220,841,488...220,953,442
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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 chr10:16,913,022...16,921,722
Ensembl chr10:16,913,025...16,920,586
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G |
AASDHPPT |
aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:35,903,902...35,948,573
Ensembl chr 9:35,839,917...35,948,575
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G |
ABCG4 |
ATP binding cassette subfamily G member 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:46,364,546...46,380,545
Ensembl chr 9:46,364,936...46,380,544
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G |
ACAD8 |
acyl-CoA dehydrogenase family member 8 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:60,807,405...60,828,379
Ensembl chr 9:60,807,486...60,828,389
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G |
ACAT1 |
acetyl-CoA acetyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 9:36,525,266...36,545,634
Ensembl chr 9:36,525,261...36,545,633
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G |
ACRV1 |
acrosomal vesicle protein 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:52,803,378...52,809,975
Ensembl chr 9:52,803,381...52,809,975
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G |
ADAMTS15 |
ADAM metallopeptidase with thrombospondin type 1 motif 15 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:57,127,527...57,152,550
Ensembl chr 9:57,127,442...57,152,547
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G |
ADAMTS8 |
ADAM metallopeptidase with thrombospondin type 1 motif 8 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:57,090,313...57,113,077
Ensembl chr 9:57,090,617...57,110,414
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G |
ALG9 |
ALG9 alpha-1,2-mannosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 9:39,519,217...39,620,098
Ensembl chr 9:39,527,883...39,619,892
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G |
ALKBH8 |
alkB homolog 8, tRNA methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 9:36,077,004...36,119,936
Ensembl chr 9:36,077,192...36,119,920
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G |
APLP2 |
amyloid beta precursor like protein 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:56,798,781...56,871,849
Ensembl chr 9:56,798,810...56,872,642
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G |
APOA1 |
apolipoprotein A1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:44,216,481...44,218,360
Ensembl chr 9:44,216,392...44,218,713
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G |
APOA4 |
apolipoprotein A4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:44,201,587...44,204,072
Ensembl chr 9:44,201,508...44,204,206
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G |
APOA5 |
apolipoprotein A5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:44,177,834...44,180,880
Ensembl chr 9:44,178,606...44,180,885
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G |
APOC3 |
apolipoprotein C3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:44,211,171...44,213,538
Ensembl chr 9:44,211,194...44,213,533
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G |
ARCN1 |
archain 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:45,863,772...45,897,525
Ensembl chr 9:45,863,559...45,897,613
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G |
ARHGAP20 |
Rho GTPase activating protein 20 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:38,471,049...38,582,221
Ensembl chr 9:38,474,865...38,582,242
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G |
ARHGAP32 |
Rho GTPase activating protein 32 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:55,903,365...56,177,639
Ensembl chr 9:55,906,954...56,177,551
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G |
ARHGEF12 |
Rho guanine nucleotide exchange factor 12 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:47,474,566...47,621,034
Ensembl chr 9:47,475,805...47,618,361
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G |
ATM |
ATM serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:36,620,656...36,759,555
Ensembl chr 9:36,620,658...36,759,552
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G |
ATP5MG |
ATP synthase membrane subunit g |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:45,706,449...45,716,541
Ensembl chr 9:45,706,534...45,717,036
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G |
B3GAT1 |
beta-1,3-glucuronyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:60,995,280...61,020,300
Ensembl chr 9:60,995,283...61,010,471
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G |
BACE1 |
beta-secretase 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:44,640,389...44,665,863
Ensembl chr 9:44,640,394...44,665,835
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G |
BARX2 |
BARX homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:56,261,394...56,340,992
Ensembl chr 9:56,261,658...56,340,983
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G |
BCL9L |
BCL9 like |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:46,146,519...46,175,052
Ensembl chr 9:46,146,525...46,174,589
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G |
BCO2 |
beta-carotene oxygenase 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:39,864,136...39,916,491
Ensembl chr 9:39,872,645...39,917,263
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G |
BSX |
brain specific homeobox |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:49,873,031...49,910,581
Ensembl chr 9:49,905,428...49,909,226
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G |
BTG4 |
BTG anti-proliferation factor 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:39,253,116...39,281,327
Ensembl chr 9:39,237,461...39,301,588
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G |
BUD13 |
BUD13 homolog |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:44,120,830...44,165,410
Ensembl chr 9:44,078,195...44,165,249
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G |
C1QTNF5 |
C1q and TNF related 5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:46,548,175...46,550,146
Ensembl chr 9:46,548,131...46,550,172
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G |
C2CD2L |
C2CD2 like |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:46,321,761...46,331,078
Ensembl chr 9:46,321,817...46,331,078
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G |
C9H11orf52 |
chromosome 9 C11orf52 homolog |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:39,646,890...39,655,229
Ensembl chr 9:39,647,797...39,655,223
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G |
C9H11orf65 |
chromosome 9 C11orf65 homolog |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:36,768,819...36,855,318
Ensembl chr 9:36,776,897...36,849,710
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G |
C9H11orf71 |
chromosome 9 C11orf71 homolog |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:41,946,824...41,947,477
Ensembl chr 9:41,945,977...41,947,456
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G |
C9H11orf87 |
chromosome 9 C11orf87 homolog |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:37,297,438...37,939,922
Ensembl chr 9:37,613,308...37,620,660
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G |
CADM1 |
cell adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:42,644,487...42,984,934
Ensembl chr 9:42,644,429...42,985,017
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G |
CASP1 |
caspase 1, apoptosis-related cysteine peptidase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:35,188,066...35,199,364
Ensembl chr 9:35,186,420...35,200,328
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G |
CBL |
Cbl proto-oncogene |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834
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G |
CCDC15 |
coiled-coil domain containing 15 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:52,146,298...52,217,679
Ensembl chr 9:52,147,082...52,217,674
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G |
CCDC153 |
coiled-coil domain containing 153 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:46,406,085...46,412,449
Ensembl chr 9:46,397,081...46,411,758
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G |
CD3D |
CD3 delta subunit of T-cell receptor complex |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:45,640,475...45,644,153
Ensembl chr 9:45,637,129...45,644,221
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G |
CD3E |
CD3 epsilon subunit of T-cell receptor complex |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:45,619,730...45,633,972
Ensembl chr 9:45,619,482...45,633,968
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G |
CD3G |
CD3 gamma subunit of T-cell receptor complex |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:45,645,243...45,656,779
Ensembl chr 9:45,645,364...45,704,745
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G |
CDON |
cell adhesion associated, oncogene regulated |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:53,079,543...53,178,881
Ensembl chr 9:53,079,550...53,178,881
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G |
CENATAC |
centrosomal AT-AC splicing factor |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:46,230,365...46,239,433
Ensembl chr 9:46,230,395...46,239,433
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G |
CEP164 |
centrosomal protein 164 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:44,670,857...44,752,477
Ensembl chr 9:44,670,874...44,752,469
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G |
CFAP68 |
cilia and flagella associated protein 68 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:39,629,921...39,641,769
Ensembl chr 9:39,612,409...39,660,648
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G |
CHEK1 |
checkpoint kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:52,759,224...52,790,878
Ensembl chr 9:52,753,528...52,790,700
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G |
CLDN25 |
claudin 25 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:41,407,244...41,408,058
Ensembl chr 9:41,407,272...41,408,995
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G |
CLMP |
CXADR like membrane protein |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:49,989,967...50,094,223
Ensembl chr 9:49,989,767...50,093,417
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G |
CRTAM |
cytotoxic and regulatory T cell molecule |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:49,782,166...49,811,314
Ensembl chr 9:49,783,909...49,811,312
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G |
CRYAB |
crystallin alpha B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:39,638,505...39,643,530
Ensembl chr 9:39,638,506...39,643,530
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G |
CUL5 |
cullin 5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:36,419,806...36,507,681
Ensembl chr 9:36,419,881...36,507,667
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G |
CWF19L2 |
CWF19 like cell cycle control factor 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:35,967,198...36,059,780
Ensembl chr 9:35,967,204...36,059,749
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G |
CXCR5 |
C-X-C motif chemokine receptor 5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:46,134,243...46,146,638
Ensembl chr 9:46,143,117...46,146,636
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G |
DCPS |
decapping enzyme, scavenger |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:53,400,750...53,437,161
Ensembl chr 9:53,400,755...53,437,548
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G |
DDX10 |
DEAD-box helicase 10 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:37,006,571...37,265,973
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G |
DDX25 |
DEAD-box helicase 25 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:53,029,450...53,044,088
Ensembl chr 9:53,029,790...53,044,383
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G |
DDX6 |
DEAD-box helicase 6 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:46,025,616...46,063,836
Ensembl chr 9:46,025,625...46,063,818
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G |
DIXDC1 |
DIX domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:39,666,454...39,734,909
|
|
G |
DLAT |
dihydrolipoamide S-acetyltransferase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:39,738,639...39,763,813
Ensembl chr 9:39,738,564...39,796,806
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|
G |
DPAGT1 |
dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:46,308,824...46,316,905
Ensembl chr 9:46,310,872...46,316,858
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|
G |
DRD2 |
dopamine receptor D2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:41,068,618...41,135,262
Ensembl chr 9:41,068,779...41,133,599
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|
G |
DSCAML1 |
DS cell adhesion molecule like 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:44,785,142...45,153,256
Ensembl chr 9:44,785,701...45,147,140
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|
G |
EI24 |
EI24 autophagy associated transmembrane protein |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:52,704,560...52,724,966
Ensembl chr 9:52,704,570...52,720,938
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G |
ELMOD1 |
ELMO domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:36,141,330...36,208,125
Ensembl chr 9:36,142,316...36,208,696
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G |
ESAM |
endothelial cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:51,983,019...51,992,415
Ensembl chr 9:51,983,023...51,992,393
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G |
ETS1 |
ETS proto-oncogene 1, transcription factor |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:55,377,264...55,512,180
Ensembl chr 9:55,377,266...55,512,115
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G |
FAM118B |
family with sequence similarity 118 member B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 9:53,309,198...53,358,005
Ensembl chr 9:53,309,260...53,358,384
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G |
FDX1 |
ferredoxin 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:38,376,147...38,399,026
Ensembl chr 9:38,375,984...38,404,832
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G |
FDXACB1 |
ferredoxin-fold anticodon binding domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:39,623,871...39,629,987
Ensembl chr 9:39,622,902...39,629,836
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G |
FEZ1 |
fasciculation and elongation protein zeta 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:52,621,175...52,672,660
Ensembl chr 9:52,621,183...52,672,660
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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 chr 9:55,612,905...55,749,784
Ensembl chr 9:55,612,901...55,749,778
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G |
FOXR1 |
forkhead box R1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:46,208,750...46,220,076
Ensembl chr 9:46,208,808...46,220,078
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G |
FOXRED1 |
FAD dependent oxidoreductase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:53,365,260...53,372,955
Ensembl chr 9:53,365,250...53,372,952
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G |
FXYD2 |
FXYD domain containing ion transport regulator 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 9:45,165,314...45,172,440
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G |
FXYD6 |
FXYD domain containing ion transport regulator 6 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:45,182,396...45,218,249
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G |
GLB1L2 |
galactosidase beta 1 like 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:60,954,513...60,993,584
Ensembl chr 9:60,954,524...60,993,588
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G |
GLB1L3 |
galactosidase beta 1 like 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:60,917,137...60,940,461
Ensembl chr 9:60,918,345...60,940,093
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G |
GRAMD1B |
GRAM domain containing 1B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:50,259,020...50,507,328
Ensembl chr 9:50,335,062...50,505,129
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G |
GRIA4 |
glutamate ionotropic receptor AMPA type subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:35,442,060...35,803,989
Ensembl chr 9:35,442,091...35,805,357
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G |
GRIK4 |
glutamate ionotropic receptor kainate type subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:47,639,987...48,095,803
Ensembl chr 9:47,639,988...48,097,870
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G |
GUCY1A2 |
guanylate cyclase 1 soluble subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:62,101,581...62,510,803
Ensembl chr 9:62,101,613...62,499,581
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G |
H2AX |
H2A.X variant histone |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:46,308,824...46,310,494
Ensembl chr 9:46,309,653...46,310,084
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G |
HEPACAM |
hepatic and glial cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:52,115,494...52,131,801
Ensembl chr 9:52,115,504...52,131,522
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G |
HEPN1 |
hepatocellular carcinoma, down-regulated 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:52,115,257...52,116,284
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G |
HINFP |
histone H4 transcription factor |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:46,336,130...46,354,623
Ensembl chr 9:46,336,155...46,347,353
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G |
HMBS |
hydroxymethylbilane synthase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:46,300,039...46,308,681
Ensembl chr 9:46,300,050...46,308,868
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G |
HOATZ |
HOATZ cilia and flagella associated protein |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:39,278,888...39,304,816
Ensembl chr 9:39,276,995...39,304,804
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G |
HSPA8 |
heat shock protein family A (Hsp70) member 8 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:49,982,278...49,986,760
Ensembl chr 9:49,982,284...49,990,508
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G |
HTR3A |
5-hydroxytryptamine receptor 3A |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:41,575,085...41,589,083
Ensembl chr 9:41,576,796...41,589,538
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G |
HTR3B |
5-hydroxytryptamine receptor 3B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:41,512,467...41,556,912
Ensembl chr 9:41,512,374...41,556,738
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G |
HYLS1 |
HYLS1 centriolar and ciliogenesis associated |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:53,008,944...53,027,307
Ensembl chr 9:53,013,348...53,028,551
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G |
HYOU1 |
hypoxia up-regulated 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:46,264,929...46,277,056
Ensembl chr 9:46,264,933...46,276,995
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G |
IFT46 |
intraflagellar transport 46 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:45,844,636...45,861,918
Ensembl chr 9:45,844,619...45,861,879
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G |
IGSF9B |
immunoglobulin superfamily member 9B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:60,467,321...60,521,463
Ensembl chr 9:60,478,029...60,521,465
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G |
IL10RA |
interleukin 10 receptor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:45,310,527...45,324,557
Ensembl chr 9:45,310,534...45,325,168
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G |
IL18 |
interleukin 18 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:39,839,959...39,861,258
Ensembl chr 9:39,834,973...39,861,219
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G |
JAM3 |
junctional adhesion molecule 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:60,629,245...60,738,979
Ensembl chr 9:60,613,400...60,738,924
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G |
JAML |
junction adhesion molecule like |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:45,506,496...45,537,304
Ensembl chr 9:45,505,907...45,534,863
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G |
JHY |
junctional cadherin complex regulator |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:49,826,428...49,887,758
Ensembl chr 9:49,826,501...49,888,860
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G |
KBTBD3 |
kelch repeat and BTB domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:35,870,911...35,903,870
Ensembl chr 9:35,874,041...35,903,729
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G |
KCNJ1 |
potassium inwardly rectifying channel subfamily J member 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:55,779,020...55,812,761
Ensembl chr 9:55,780,257...55,781,375
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G |
KCNJ5 |
potassium inwardly rectifying channel subfamily J member 5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:55,836,777...55,861,288
Ensembl chr 9:55,836,701...55,864,941
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G |
KIRREL3 |
kirre like nephrin family adhesion molecule 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:53,493,735...54,066,490
Ensembl chr 9:53,491,991...53,664,072
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G |
KMT2A |
lysine methyltransferase 2A |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:45,743,566...45,828,559
Ensembl chr 9:45,743,397...45,824,884
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G |
LAYN |
layilin |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:39,306,276...39,326,825
Ensembl chr 9:39,306,300...39,327,072
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G |
LOC100512247 |
olfactory receptor 10S1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:50,909,148...50,910,125
Ensembl chr 9:50,909,148...50,910,113
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G |
LOC100512977 |
KDEL motif-containing protein 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:36,856,092...36,970,940
Ensembl chr 9:36,852,560...36,879,483 Ensembl chr 9:36,852,560...36,879,483
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G |
LOC100513369 |
olfactory receptor 6M1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:50,633,118...50,635,489
Ensembl chr 9:50,634,384...50,635,262
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G |
LOC100516632 |
olfactory receptor 8D2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:51,291,216...51,292,145
Ensembl chr 9:51,291,216...51,292,142
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G |
LOC100516819 |
olfactory receptor 8D1-like |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:51,282,954...51,283,924
Ensembl chr 9:51,282,954...51,283,880
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G |
LOC100516990 |
olfactory receptor 8G1-like |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:51,220,694...51,221,653
Ensembl chr 9:51,220,718...51,221,653
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G |
LOC100518623 |
olfactory receptor 10G9-like |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 9:50,952,183...50,953,134
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G |
LOC100518799 |
olfactory receptor 10G7 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:50,965,660...50,966,605
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G |
LOC100519677 |
olfactory receptor 8B3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:51,585,080...51,586,048
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G |
LOC100519859 |
olfactory receptor 8B3-like |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:51,556,718...51,592,996
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G |
LOC100520926 |
olfactory receptor 145 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:51,642,422...51,643,354
Ensembl chr 9:51,642,422...51,643,354
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G |
LOC100522887 |
caspase-13 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:35,167,567...35,185,791
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G |
LOC100523744 |
olfactory receptor 8B4-like |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:51,624,333...51,626,022
Ensembl chr 9:51,624,333...51,625,280
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G |
LOC100523913 |
olfactory receptor 8B12-like |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:51,679,988...51,680,995
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G |
LOC100524268 |
olfactory receptor 151-like |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:51,778,403...51,779,381
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G |
LOC100524947 |
olfactory receptor 8D4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:50,713,124...50,714,241
Ensembl chr 9:50,713,124...50,714,062
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G |
LOC100525119 |
olfactory receptor 4D5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:50,758,169...50,759,113
Ensembl chr 9:50,758,169...50,759,113
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G |
LOC100525298 |
olfactory receptor 6T1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:50,765,646...50,766,608
Ensembl chr 9:50,765,646...50,766,608
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G |
LOC106504901 |
olfactory receptor 6X1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:50,612,751...50,614,137
Ensembl chr 9:50,613,020...50,613,958
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G |
LOC110259877 |
NXPE family member 3-like |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 3:8,114,146...8,120,050
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G |
LOC641352 |
caspase-15 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr13:24,046,127...24,068,431
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G |
MCAM |
melanoma cell adhesion molecule |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:46,506,375...46,522,091
Ensembl chr 9:46,512,784...46,522,083
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G |
MFRP |
membrane frizzled-related protein |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:46,550,383...46,556,305
Ensembl chr 9:46,550,315...46,556,077
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G |
MIR100 |
microRNA mir-100 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:49,157,909...49,157,988
Ensembl chr 9:49,157,909...49,157,988
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G |
MIR125B-1 |
microRNA mir-125b-1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:49,109,435...49,109,514
Ensembl chr 9:49,109,435...49,109,514
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G |
MIR34C-1 |
microRNA mir-34c-1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:39,280,278...39,280,357
Ensembl chr 9:39,280,278...39,280,357
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G |
MIRLET7A-1 |
microRNA let-7a-1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:49,152,586...49,152,665
Ensembl chr 9:49,152,586...49,152,665
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G |
MPZL2 |
myelin protein zero like 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:45,566,365...45,578,168
Ensembl chr 9:45,565,513...45,578,185
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G |
MPZL3 |
myelin protein zero like 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:45,536,024...45,564,210
Ensembl chr 9:45,536,028...45,564,194
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G |
MSANTD2 |
Myb/SANT DNA binding domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:51,997,144...52,029,532
Ensembl chr 9:51,997,151...52,028,776
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G |
MSANTD4 |
Myb/SANT DNA binding domain containing 4 with coiled-coils |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:35,828,697...35,839,579
Ensembl chr 9:35,830,837...35,862,114
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G |
NCAM1 |
neural cell adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:40,628,602...40,960,605
Ensembl chr 9:40,628,631...40,960,591
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G |
NCAPD3 |
non-SMC condensin II complex subunit D3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:60,712,416...60,785,907
Ensembl chr 9:60,712,421...60,785,901
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G |
NECTIN1 |
nectin cell adhesion molecule 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:46,823,552...46,891,564
Ensembl chr 9:46,789,726...46,891,304
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|
G |
NFRKB |
nuclear factor related to kappaB binding protein |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:56,616,865...56,656,068
Ensembl chr 9:56,614,227...56,656,056
|
|
G |
NHERF4 |
NHERF family PDZ scaffold protein 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:46,401,377...46,409,804
Ensembl chr 9:46,401,713...46,406,219
|
|
G |
NKAPD1 |
NKAP domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:39,775,579...39,787,962
Ensembl chr 9:39,775,676...39,787,969
|
|
G |
NLRX1 |
NLR family member X1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:46,384,373...46,400,752
Ensembl chr 9:46,384,948...46,400,983
|
|
G |
NNMT |
nicotinamide N-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:41,871,072...41,882,415
Ensembl chr 9:41,870,980...41,882,756
|
|
G |
NPAT |
nuclear protein, coactivator of histone transcription |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:36,554,800...36,620,515
Ensembl chr 9:36,554,671...36,620,446
|
|
G |
NRGN |
neurogranin |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:51,967,313...51,977,197
Ensembl chr 9:51,969,823...51,977,228
|
|
G |
NTM |
neurotrimin |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:57,965,751...58,967,534
Ensembl chr 9:58,743,504...58,968,355
|
|
G |
NXPE2 |
neurexophilin and PC-esterase domain family member 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:42,174,015...42,211,529
|
|
G |
OAF |
out at first homolog |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:47,344,916...47,363,768
Ensembl chr 9:47,345,165...47,362,998
|
|
G |
OPCML |
opioid binding protein/cell adhesion molecule like |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:59,037,711...60,141,162
Ensembl chr 9:59,037,714...60,140,839
|
|
G |
PAFAH1B2 |
platelet activating factor acetylhydrolase 1b catalytic subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:44,513,114...44,534,312
Ensembl chr 9:44,513,461...44,536,432
|
|
G |
PANX3 |
pannexin 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:51,854,148...51,860,330
Ensembl chr 9:51,853,949...51,861,331
|
|
G |
PATE1 |
prostate and testis expressed 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:52,913,965...52,916,716
Ensembl chr 9:52,914,551...52,916,806
|
|
G |
PATE2 |
prostate and testis expressed 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:52,929,553...52,933,348
Ensembl chr 9:52,930,887...52,933,470
|
|
G |
PATE3 |
prostate and testis expressed 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:52,956,357...52,959,538
Ensembl chr 9:52,956,331...52,958,342
|
|
G |
PCSK7 |
proprotein convertase subtilisin/kexin type 7 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:44,567,573...44,596,549
Ensembl chr 9:44,567,577...44,596,484
|
|
G |
PHLDB1 |
pleckstrin homology like domain family B member 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:45,902,099...45,949,415
Ensembl chr 9:45,902,155...45,949,415
|
|
G |
PIH1D2 |
PIH1 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:39,767,708...39,775,477
Ensembl chr 9:39,765,305...39,775,401
|
|
G |
PKNOX2 |
PBX/knotted 1 homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:52,303,022...52,608,505
Ensembl chr 9:52,349,714...52,610,680
|
|
G |
PLET1 |
placenta expressed transcript 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:39,936,355...39,949,709
Ensembl chr 9:39,936,372...39,949,683
|
|
G |
POU2AF1 |
POU class 2 homeobox associating factor 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:39,121,422...39,144,636
Ensembl chr 9:39,119,052...39,144,606
|
|
G |
POU2AF2 |
POU class 2 homeobox associating factor 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:39,024,067...39,065,379
Ensembl chr 9:39,024,631...39,062,684
|
|
G |
POU2AF3 |
POU class 2 homeobox associating factor 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:39,071,994...39,081,493
Ensembl chr 9:39,071,706...39,081,486
|
|
G |
POU2F3 |
POU class 2 homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:47,376,852...47,458,265
Ensembl chr 9:47,376,750...47,460,165
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|
G |
PPP2R1B |
protein phosphatase 2 scaffold subunit Abeta |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:39,479,040...39,518,773
Ensembl chr 9:39,480,331...39,517,629
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|
G |
PRDM10 |
PR/SET domain 10 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:56,657,270...56,749,487
Ensembl chr 9:56,657,270...56,749,482
|
|
G |
PTS |
6-pyruvoyltetrahydropterin synthase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:39,920,157...39,927,804
Ensembl chr 9:39,920,273...39,928,634
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|
G |
PUS3 |
pseudouridine synthase 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:53,018,878...53,028,605
Ensembl chr 9:53,018,883...53,028,560
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|
G |
RAB39A |
RAB39A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:36,341,339...36,403,690
Ensembl chr 9:36,341,339...36,403,654
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|
G |
RBM7 |
RNA binding motif protein 7 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:41,947,081...41,955,683
Ensembl chr 9:41,947,589...41,956,210
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|
G |
RDX |
radixin |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:38,243,608...38,299,561
Ensembl chr 9:38,220,447...38,322,097
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|
G |
REXO2 |
RNA exonuclease 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:41,977,969...41,988,699
Ensembl chr 9:41,977,971...41,989,257
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|
G |
RNF214 |
ring finger protein 214 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:44,596,980...44,640,374
Ensembl chr 9:44,597,007...44,642,109
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|
G |
RNF26 |
ring finger protein 26 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:46,543,732...46,546,570
Ensembl chr 9:46,543,735...46,546,569
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|
G |
ROBO3 |
roundabout guidance receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:52,065,043...52,081,764
Ensembl chr 9:52,065,499...52,081,625
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|
G |
ROBO4 |
roundabout guidance receptor 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:52,083,757...52,097,784
Ensembl chr 9:52,083,760...52,097,736
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|
G |
RPS25 |
ribosomal protein S25 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:46,237,911...46,242,174
Ensembl chr 9:46,235,737...46,242,432
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|
G |
RPUSD4 |
RNA pseudouridine synthase D4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:53,295,854...53,309,192
Ensembl chr 9:53,296,538...53,309,180
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|
G |
SC5D |
sterol-C5-desaturase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:48,357,115...48,372,391
Ensembl chr 9:48,357,165...48,372,386
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|
G |
SCN2B |
sodium voltage-gated channel beta subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:45,484,994...45,502,578
Ensembl chr 9:45,484,998...45,498,465
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|
G |
SCN3B |
sodium voltage-gated channel beta subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:50,508,194...50,532,432
Ensembl chr 9:50,508,880...50,583,712
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|
G |
SCN4B |
sodium voltage-gated channel beta subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:45,451,473...45,475,606
|
|
G |
SDHD |
succinate dehydrogenase complex subunit D |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:39,790,654...39,803,602
Ensembl chr 9:39,790,595...39,803,950
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|
G |
SIAE |
sialic acid acetylesterase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:51,879,220...51,918,974
Ensembl chr 9:51,879,224...51,918,827
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|
G |
SIDT2 |
SID1 transmembrane family member 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:44,543,648...44,559,717
Ensembl chr 9:44,543,701...44,559,715
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|
G |
SIK2 |
salt inducible kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:39,368,555...39,483,519
Ensembl chr 9:39,368,599...39,483,515
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G |
SIK3 |
SIK family kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:44,223,227...44,471,689
Ensembl chr 9:44,223,232...44,513,831
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|
G |
SLC35F2 |
solute carrier family 35 member F2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:36,243,059...36,341,361
Ensembl chr 9:36,288,558...36,341,284
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|
G |
SLC37A2 |
solute carrier family 37 member 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:52,237,023...52,274,124
Ensembl chr 9:52,237,420...52,272,692
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|
G |
SLC37A4 |
solute carrier family 37 member 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:46,247,278...46,254,068
Ensembl chr 9:46,247,284...46,254,031
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|
G |
SLN |
sarcolipin |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:36,232,955...36,242,405
Ensembl chr 9:36,232,968...36,242,405
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G |
SNX19 |
sorting nexin 19 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:57,509,186...57,558,361
Ensembl chr 9:57,510,486...57,558,339
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|
G |
SORL1 |
sortilin related receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:48,435,350...48,653,670
Ensembl chr 9:48,435,345...48,653,655
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G |
SPA17 |
sperm autoantigenic protein 17 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:51,918,916...51,931,459
Ensembl chr 9:51,918,916...51,931,759
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G |
SPATA19 |
spermatogenesis associated 19 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:60,426,620...60,433,458
Ensembl chr 9:60,426,621...60,433,458
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G |
SRPRA |
SRP receptor subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:53,358,522...53,365,085
Ensembl chr 9:53,358,534...53,365,653
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|
G |
ST14 |
ST14 transmembrane serine protease matriptase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:56,888,246...56,929,771
Ensembl chr 9:56,888,246...56,929,767
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G |
ST3GAL4 |
ST3 beta-galactoside alpha-2,3-sialyltransferase 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:53,442,795...53,491,847
Ensembl chr 9:53,445,591...53,486,010
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|
G |
STT3A |
STT3 oligosaccharyltransferase complex catalytic subunit A |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:52,726,794...52,754,671
Ensembl chr 9:52,724,441...52,754,669
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G |
TAGLN |
transgelin |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:44,561,756...44,567,385
Ensembl chr 9:44,560,785...44,567,385
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|
G |
TBRG1 |
transforming growth factor beta regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:51,865,312...51,878,259
Ensembl chr 9:51,865,327...51,878,432
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|
G |
TECTA |
tectorin alpha |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:48,120,786...48,286,275
Ensembl chr 9:48,211,798...48,286,274 Ensembl chr 9:48,211,798...48,286,274
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|
G |
TEX12 |
testis expressed 12 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:39,864,093...39,869,572
Ensembl chr 9:39,864,148...39,869,979
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|
G |
THY1 |
Thy-1 cell surface antigen |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:46,607,022...46,612,691
Ensembl chr 9:46,607,494...46,612,269
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|
G |
THYN1 |
thymocyte nuclear protein 1 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:60,802,925...60,807,404
Ensembl chr 9:60,802,928...60,807,409
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|
G |
TIMM8B |
translocase of inner mitochondrial membrane 8 homolog B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:39,788,164...39,790,563
Ensembl chr 9:39,787,405...39,790,718
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|
G |
TIRAP |
TIR domain containing adaptor protein |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:53,374,559...53,394,172
Ensembl chr 9:53,375,644...53,394,165
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|
G |
TLCD5 |
TLC domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:47,464,840...47,472,819
Ensembl chr 9:47,464,905...47,472,764
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|
G |
TMEM218 |
transmembrane protein 218 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:52,270,691...52,302,766
Ensembl chr 9:52,260,508...52,302,638
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G |
TMEM225 |
transmembrane protein 225 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:50,730,121...50,732,787
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|
G |
TMEM25 |
transmembrane protein 25 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:45,834,197...45,838,978
Ensembl chr 9:45,829,196...45,838,972
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|
G |
TMEM45B |
transmembrane protein 45B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:56,584,727...56,614,188
Ensembl chr 9:56,584,818...56,614,182
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|
G |
TMPRSS13 |
transmembrane serine protease 13 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 9:45,239,349...45,269,757
Ensembl chr 9:45,241,008...45,258,034
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G |
TMPRSS4 |
transmembrane serine protease 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 9:45,400,263...45,436,936
Ensembl chr 9:45,400,600...45,435,916
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G |
TMPRSS5 |
transmembrane serine protease 5 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 9:41,326,225...41,337,834
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G |
TRAPPC4 |
trafficking protein particle complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 9:46,242,196...46,246,344
Ensembl chr 9:46,242,171...46,246,343
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G |
TREH |
trehalase |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 9:45,949,891...45,965,372
Ensembl chr 9:45,949,894...45,965,341
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G |
TRIM29 |
tripartite motif containing 29 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 9:47,256,314...47,284,104
Ensembl chr 9:47,256,317...47,284,006
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G |
TTC12 |
tetratricopeptide repeat domain 12 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 9:40,988,881...41,032,928
Ensembl chr 9:40,988,920...41,046,900
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G |
TTC36 |
tetratricopeptide repeat domain 36 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 9:45,829,014...45,838,978
Ensembl chr 9:45,829,191...45,838,979
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G |
UBASH3B |
ubiquitin associated and SH3 domain containing B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 9:49,630,678...49,772,348
Ensembl chr 9:49,630,793...49,770,897
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G |
UBE4A |
ubiquitination factor E4A |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 9:45,661,090...45,701,911
Ensembl chr 9:45,661,106...45,704,810
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G |
UPK2 |
uroplakin 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 9:46,200,465...46,202,754
Ensembl chr 9:46,200,512...46,202,735
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G |
USP2 |
ubiquitin specific peptidase 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 9:46,563,469...46,590,392
Ensembl chr 9:46,563,482...46,590,392
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G |
USP28 |
ubiquitin specific peptidase 28 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 9:41,417,560...41,481,044
Ensembl chr 9:41,417,564...41,480,994
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G |
VPS11 |
VPS11 core subunit of CORVET and HOPS complexes |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 9:46,285,718...46,297,465
Ensembl chr 9:46,285,739...46,297,474
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G |
VPS26B |
VPS26, retromer complex component B |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 9:60,786,192...60,802,507
Ensembl chr 9:60,785,998...60,805,193
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G |
VSIG2 |
V-set and immunoglobulin domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 9:51,974,577...51,982,884
Ensembl chr 9:51,977,460...51,982,054
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G |
VWA5A |
von Willebrand factor A domain containing 5A |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 9:51,052,113...51,100,049
Ensembl chr 9:51,052,174...51,100,045
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G |
ZBTB16 |
zinc finger and BTB domain containing 16 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 9:41,639,536...41,839,254
Ensembl chr 9:41,639,701...41,836,742
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G |
ZBTB44 |
zinc finger and BTB domain containing 44 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 9:56,947,145...57,018,803
Ensembl chr 9:56,947,391...57,017,791
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G |
ZC3H12C |
zinc finger CCCH-type containing 12C |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 9:38,133,440...38,209,365
Ensembl chr 9:38,138,004...38,207,027
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G |
ZNF202 |
zinc finger protein 202 |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:50,583,590...50,605,591
Ensembl chr 9:50,584,250...50,605,567
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G |
ZPR1 |
ZPR1 zinc finger |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
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NCBI chr 9:44,167,422...44,178,137
Ensembl chr 9:44,167,423...44,177,435
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G |
ZW10 |
zw10 kinetochore protein |
|
ISO |
ClinVar Annotator: match by term: Distal trisomy 11q |
ClinVar |
PMID:25741868 |
|
NCBI chr 9:41,358,801...41,400,254
Ensembl chr 9:41,348,896...41,400,208
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G |
ELP4 |
elongator acetyltransferase complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: 11p deletion syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 2:29,006,456...29,230,092
Ensembl chr 2:29,004,987...29,230,077
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G |
PAX6 |
paired box 6 |
|
ISO |
ClinVar Annotator: match by term: 11p deletion syndrome |
ClinVar |
PMID:9727514 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18776953 PMID:25741868 PMID:26604670 PMID:28492532 PMID:31161946 More...
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NCBI chr 2:28,971,565...29,001,149
Ensembl chr 2:28,978,287...29,001,200
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G |
WT1 |
WT1 transcription factor |
|
ISO |
ClinVar Annotator: match by term: 11p deletion syndrome |
ClinVar |
PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:6307071 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 chr 2:28,411,467...28,456,007
Ensembl chr 2:28,411,803...28,455,997
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G |
ACOD1 |
aconitate decarboxylase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr11:49,077,152...49,088,218
Ensembl chr11:49,077,492...49,087,104
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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 chr11:15,851,352...15,876,452
Ensembl chr11:15,857,367...15,876,405
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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 chr11:18,097,723...18,100,425
Ensembl chr11:18,095,974...18,099,819
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G |
ATP7B |
ATPase copper transporting beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:15,892,549...15,942,070
Ensembl chr11:15,876,612...15,942,064
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G |
BORA |
BORA aurora kinase A activator |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr11:45,017,651...45,045,127
Ensembl chr11:45,018,333...45,045,126
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G |
CAB39L |
calcium binding protein 39 like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr11:18,297,669...18,400,398
Ensembl chr11:18,313,796...18,401,235
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G |
CCDC70 |
coiled-coil domain containing 70 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:15,976,814...15,978,050
Ensembl chr11:15,977,289...15,977,945
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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 chr11:18,467,508...18,518,137
Ensembl chr11:18,458,301...18,518,146
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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 chr11:15,751,717...15,767,068
Ensembl chr11:15,751,808...15,768,046
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G |
CLN5 |
CLN5 intracellular trafficking protein |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:49,105,822...49,128,425
Ensembl chr11:49,105,878...49,129,886
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G |
CNMD |
chondromodulin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:25,959,192...25,994,773
Ensembl chr11:25,961,926...25,994,651
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G |
COMMD6 |
COMM domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:47,795,110...47,818,543
Ensembl chr11:47,543,814...47,818,561
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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 chr11:18,988,665...19,011,015
Ensembl chr11:18,987,174...19,011,015
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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 chr11:43,765,386...44,187,766
Ensembl chr11:43,764,271...44,187,821
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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 chr11:32,492,735...32,994,854
Ensembl chr11:32,492,740...32,994,844
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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 chr11:45,046,040...45,075,973
Ensembl chr11:45,044,508...45,075,963
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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 chr11:16,970,802...16,990,609
Ensembl chr11:16,972,554...16,989,488
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G |
EBPL |
EBP like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:18,039,978...18,150,729
Ensembl chr11:18,040,011...18,072,633
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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 chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884
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G |
FAM124A |
family with sequence similarity 124 member A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:16,572,298...16,658,094
Ensembl chr11:16,572,302...16,658,162
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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 chr11:49,131,663...49,151,380
Ensembl chr11:49,131,665...49,151,009
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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 chr11:18,564,280...18,757,742
Ensembl chr11:18,564,280...18,757,869
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G |
INTS6 |
integrator complex subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:16,373,376...16,468,246
Ensembl chr11:16,375,452...16,465,635
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G |
ITM2B |
integral membrane protein 2B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:19,349,088...19,377,931
Ensembl chr11:19,349,134...19,377,917
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G |
KCNRG |
potassium channel regulator |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:17,784,243...17,796,826
Ensembl chr11:17,784,998...17,794,710
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G |
KCTD12 |
potassium channel tetramerization domain containing 12 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:49,025,134...49,033,208
Ensembl chr11:49,025,131...49,031,309
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G |
KLF12 |
KLF transcription factor 12 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:45,981,096...46,655,472
Ensembl chr11:45,985,564...46,459,791
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G |
KLF5 |
KLF transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:45,370,009...45,386,673
Ensembl chr11:45,369,810...45,388,314
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G |
KLHL1 |
kelch like family member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:42,033,842...42,420,931
Ensembl chr11:42,033,851...42,419,734
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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 chr11:17,948,210...18,033,818
Ensembl chr11:17,947,850...18,033,787
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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 chr11:47,911,076...48,133,449
Ensembl chr11:48,072,159...48,133,446
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G |
LOC100155738 |
protocadherin-8 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:26,127,398...26,133,481
Ensembl chr11:26,127,401...26,132,123
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G |
LOC106505279 |
uncharacterized LOC106505279 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:16,021,127...16,034,650
Ensembl chr11:15,997,827...16,034,395
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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 chr11:19,216,305...19,220,913
Ensembl chr11:19,219,077...19,220,347
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G |
MED4 |
mediator complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:19,551,858...19,566,915
Ensembl chr11:19,551,863...19,566,926
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G |
MIR15A |
microRNA mir-15a |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:17,757,463...17,757,541
Ensembl chr11:17,757,460...17,757,554
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G |
MIR16-2 |
microRNA mir-16-2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:17,757,606...17,757,684
Ensembl chr11:17,757,601...17,757,687
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G |
MLNR |
motilin receptor |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:18,541,958...18,544,111
Ensembl chr11:18,542,028...18,544,112
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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 chr11:49,163,969...49,432,865
Ensembl chr11:49,163,684...49,432,583
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G |
MZT1 |
mitotic spindle organizing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:45,000,735...45,019,009
Ensembl chr11:44,999,320...45,018,862
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G |
NDFIP2 |
Nedd4 family interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:51,493,981...51,560,305
Ensembl chr11:51,420,166...51,560,305
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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 chr11:15,772,578...15,798,424
Ensembl chr11:15,772,844...15,798,420
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G |
NEK5 |
NIMA related kinase 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:15,799,068...15,862,236
Ensembl chr11:15,806,017...15,862,228
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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 chr11:19,572,963...19,584,565
Ensembl chr11:19,572,644...19,584,528
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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 chr11:50,741,893...50,786,824
Ensembl chr11:50,740,916...50,786,774
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G |
OLFM4 |
olfactomedin 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:26,252,948...26,375,531
Ensembl chr11:26,350,203...26,375,716
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G |
PCDH17 |
protocadherin 17 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:30,510,779...30,611,732
Ensembl chr11:30,511,275...30,611,727
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G |
PCDH20 |
protocadherin 20 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:34,384,507...34,390,265
Ensembl chr11:34,384,511...34,389,730
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G |
PCDH9 |
protocadherin 9 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr11:38,522,221...39,455,166
Ensembl chr11:38,523,033...39,453,741
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G |
PHF11 |
PHD finger protein 11 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr11:18,205,073...18,252,082
Ensembl chr11:18,205,078...18,251,948
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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 chr11:45,076,046...45,362,708
Ensembl chr11:45,076,062...45,362,887
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G |
POU4F1 |
POU class 4 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr11:50,729,746...50,732,626
Ensembl chr11:50,730,428...50,732,539
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G |
RB1 |
RB transcriptional corepressor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr11:19,186,754...19,317,642
Ensembl chr11:19,186,761...19,317,690
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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 chr11:51,337,388...51,421,746
Ensembl chr11:51,339,629...51,420,512
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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 chr11:18,132,013...18,197,759
Ensembl chr11:18,114,767...18,197,747
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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 chr11:19,081,841...19,182,488
Ensembl chr11:19,106,531...19,182,484
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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 chr11:16,825,799...16,911,959
Ensembl chr11:16,825,128...16,911,969
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G |
SCEL |
sciellin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
|
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NCBI chr11:49,651,589...49,777,777
Ensembl chr11:49,651,673...49,775,429
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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 chr11:16,465,521...16,500,580
Ensembl chr11:16,466,475...16,500,541
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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 chr11:18,252,525...18,298,234
Ensembl chr11:18,252,524...18,297,826
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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 chr11:49,807,976...49,886,829
Ensembl chr11:49,807,994...49,886,822
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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 chr11:54,950,669...54,955,768
Ensembl chr11:54,950,676...54,955,949
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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 chr11:56,508,713...56,522,270
Ensembl chr11:56,508,767...56,522,197
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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 chr11:52,153,695...52,158,766
Ensembl chr11:52,153,704...52,159,156
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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 chr11:17,849,011...17,870,090
Ensembl chr11:17,848,852...17,872,257
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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 chr11:19,616,415...19,670,667
Ensembl chr11:19,616,495...19,670,662
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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 chr11:25,905,442...25,960,665
Ensembl chr11:25,906,010...25,954,210
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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 chr11:47,543,808...47,760,928
Ensembl chr11:47,543,815...47,828,208
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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 chr11:33,257,556...33,440,131
Ensembl chr11:33,258,063...33,440,123
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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 chr11:15,668,435...15,698,031
Ensembl chr11:15,668,813...15,697,872
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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 chr11:17,785,031...17,850,005
Ensembl chr11:17,793,784...17,849,732
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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 chr11:47,829,037...47,885,800
Ensembl chr11:47,828,421...47,887,629
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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 chr11:15,701,370...15,735,469
Ensembl chr11:15,701,373...15,735,474
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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 chr11:16,086,872...16,272,513
Ensembl chr11:16,092,698...16,195,134
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G |
APBA2 |
amyloid beta precursor protein binding family A member 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:144,183,148...144,315,154
Ensembl chr 1:144,071,859...144,315,151
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G |
ATP10A |
ATPase phospholipid transporting 10A (putative) |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:141,493,551...141,667,346
Ensembl chr 1:141,570,493...141,667,338
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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 3:13,565,439...14,794,365
Ensembl chr 3:13,565,281...14,794,365
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G |
CHRNA7 |
cholinergic receptor nicotinic alpha 7 subunit |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
|
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NCBI chr 1:142,803,697...142,937,124
Ensembl chr 1:142,803,701...142,937,123
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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 chr12:48,740,117...48,763,496
Ensembl chr12:48,733,505...48,764,748
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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 |
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NCBI chr15:32,064,431...32,175,095
Ensembl chr15:32,064,475...32,175,094
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G |
ENTREP2 |
endosomal transmembrane epsin interactor 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:144,316,119...144,788,091
Ensembl chr 1:144,316,121...144,788,290
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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 chr 1:140,486,107...140,568,204
Ensembl chr 1:140,486,104...140,567,894
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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 chr 1:140,566,443...140,906,516
Ensembl chr 1:140,566,540...140,905,623
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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 chr 1:139,855,461...140,464,592
Ensembl chr 1:139,857,095...140,464,579
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G |
HERC2 |
HECT and RLD domain containing E3 ubiquitin protein ligase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr15:56,438,117...56,649,805
Ensembl chr15:56,438,148...56,649,792
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G |
LOC102165602 |
coiled-coil domain-containing protein 92 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr12:48,773,571...48,800,393
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G |
MAGEL2 |
MAGE family member L2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 1:142,450,414...142,454,633
Ensembl chr 1:142,448,689...142,454,697
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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 |
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NCBI chr 1:142,492,089...142,500,968
Ensembl chr 1:142,496,735...142,500,982
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G |
NDN |
necdin, MAGE family member |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 1:142,412,688...142,413,665
Ensembl chr 1:142,412,565...142,414,240
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G |
NIPA1 |
NIPA magnesium transporter 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome | ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr15:32,208,857...32,260,064
Ensembl chr15:32,208,860...32,260,006
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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 |
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NCBI chr15:32,175,096...32,202,366
Ensembl chr15:32,175,104...32,202,200
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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 |
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NCBI chr 1:233,074,862...233,080,760
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G |
NSMCE3 |
NSE3 homolog, SMC5-SMC6 complex component |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:144,469,617...144,474,026
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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 chr15:56,657,648...56,869,920
Ensembl chr15:56,657,616...56,869,918
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G |
OTUD7A |
OTU deubiquitinase 7A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome |
ClinVar |
|
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NCBI chr 1:143,109,177...143,426,305
Ensembl chr 1:143,280,174...143,419,237
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G |
PAFAH1B1 |
platelet activating factor acetylhydrolase 1b regulatory subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q11.2 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr12:48,567,329...48,735,836
Ensembl chr12:48,628,816...48,735,834
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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 chr12:48,806,834...49,018,117
Ensembl chr12:48,806,772...49,018,114
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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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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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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 chr 1:144,930,387...145,195,857
Ensembl chr 1:144,930,370...145,195,836
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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 |
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NCBI chr15:31,995,727...32,042,297
Ensembl chr15:31,995,741...32,056,755
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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 |
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NCBI chr 1:141,887,179...142,001,595
Ensembl chr 1:141,887,227...141,995,003
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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 |
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NCBI chr 1:142,803,697...142,937,124
Ensembl chr 1:142,803,701...142,937,123
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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 |
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NCBI chr 1:143,919,695...143,961,678
Ensembl chr 1:143,913,551...143,961,646
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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 chr 1:143,499,136...143,540,233
Ensembl chr 1:143,493,527...143,540,563
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G |
MTMR10 |
myotubularin related protein 10 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q13.3 microdeletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:143,867,746...143,917,881
Ensembl chr 1:143,867,839...143,917,878
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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 chr 1:143,109,177...143,426,305
Ensembl chr 1:143,280,174...143,419,237
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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 chr 1:143,718,295...143,856,968
Ensembl chr 1:143,709,864...143,855,984
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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 chr 7:57,935,284...57,939,020
Ensembl chr 7:57,935,610...57,938,958
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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 chr 7:58,276,954...58,283,128
Ensembl chr 7:58,276,957...58,283,114
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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 chr 7:57,949,182...57,988,602
Ensembl chr 7:57,949,455...57,988,335
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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 chr 7:58,023,368...58,024,496
Ensembl chr 7:58,023,368...58,024,496
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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 chr 7:58,247,264...58,261,204
Ensembl chr 7:58,248,384...58,261,203
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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 chr 7:58,261,761...58,269,001
Ensembl chr 7:58,261,769...58,268,522
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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 chr 7:58,078,176...58,164,411
Ensembl chr 7:58,078,389...58,164,405
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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 chr 7:58,171,821...58,246,126
Ensembl chr 7:58,176,167...58,245,971
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G |
SNUPN |
snurportin 1 |
|
ISO |
ClinVar Annotator: match by term: Witteveen-kolk syndrome |
ClinVar |
PMID:18755302 PMID:19557438 PMID:21681106 |
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NCBI chr 7:58,038,917...58,065,972
Ensembl chr 7:58,038,995...58,071,243
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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 chr 7:57,999,447...58,015,598
Ensembl chr 7:57,999,459...58,014,441
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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 |
|
NCBI chr 1:138,619,701...139,015,681
Ensembl chr 1:138,619,706...139,015,473
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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 chr 1:139,451,080...139,491,514
Ensembl chr 1:139,451,049...139,491,511
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G |
ASB7 |
ankyrin repeat and SOCS box containing 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:139,191,407...139,240,206
Ensembl chr 1:139,191,572...139,240,185
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G |
CERS3 |
ceramide synthase 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:139,027,604...139,154,830
Ensembl chr 1:139,030,642...139,136,874
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G |
CHSY1 |
chondroitin sulfate synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:139,730,703...139,804,458
Ensembl chr 1:139,730,721...139,804,657
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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 chr 1:137,383,623...137,691,038
Ensembl chr 1:137,387,825...137,691,058
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G |
LINS1 |
lines homolog 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:139,168,859...139,191,238
Ensembl chr 1:139,168,785...139,191,163
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G |
LRRC28 |
leucine rich repeat containing 28 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:137,998,540...138,194,848
Ensembl chr 1:137,998,554...138,203,466
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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 |
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NCBI chr 1:139,494,126...139,624,609
Ensembl chr 1:139,494,121...139,624,604
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G |
LYSMD4 |
LysM domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:138,560,985...138,567,570
Ensembl chr 1:138,560,995...138,567,562
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G |
MEF2A |
myocyte enhancer factor 2A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:138,398,270...138,508,639
Ensembl chr 1:138,341,158...138,511,314
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G |
PGPEP1L |
pyroglutamyl-peptidase I like |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:137,307,784...137,384,465
Ensembl chr 1:137,308,438...137,380,864
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G |
SYNM |
synemin |
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ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 1:137,855,644...137,883,914
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G |
TTC23 |
tetratricopeptide repeat domain 23 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 1:137,870,897...137,997,201
Ensembl chr 1:137,886,405...137,997,131
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G |
ALDOA |
aldolase, fructose-bisphosphate A |
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ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 3:18,246,036...18,260,167
Ensembl chr 3:18,253,384...18,260,163
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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 |
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NCBI chr 3:18,120,915...18,124,519
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G |
ATP2A1 |
ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 3:18,545,064...18,568,312
Ensembl chr 3:18,545,071...18,568,310
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G |
ATXN2L |
ataxin 2 like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 3:18,506,082...18,519,060
Ensembl chr 3:18,506,052...18,519,056
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G |
BOLA2B |
bolA family member 2B |
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ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 3:18,345,691...18,351,508
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G |
C3H16orf54 |
chromosome 3 C16orf54 homolog |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 3:18,011,402...18,014,281
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G |
C3H16orf92 |
chromosome 3 C16orf92 homolog |
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ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 3:18,222,923...18,223,528
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G |
CD19 |
CD19 molecule |
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ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 3:18,592,785...18,601,273
Ensembl chr 3:18,592,880...18,601,263
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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 |
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NCBI chr 3:18,087,497...18,095,015
Ensembl chr 3:18,084,549...18,091,798
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G |
CORO1A |
coronin 1A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 3:18,336,813...18,342,381
Ensembl chr 3:18,336,898...18,342,396
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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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NCBI chr 3:18,211,264...18,216,096
Ensembl chr 3:18,210,965...18,216,102
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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 |
|
NCBI chr 3:18,282,574...18,291,307
Ensembl chr 3:18,282,889...18,292,092
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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 |
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NCBI chr 3:18,198,809...18,201,907
Ensembl chr 3:18,198,807...18,202,089
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G |
INO80E |
INO80 complex subunit E |
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ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
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NCBI chr 3:18,202,092...18,212,187
Ensembl chr 3:18,202,134...18,212,186
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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 |
|
NCBI chr 3:18,124,628...18,141,589
Ensembl chr 3:18,124,573...18,141,565
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G |
KIF22 |
kinesin family member 22 |
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ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 3:18,023,104...18,041,732
Ensembl chr 3:18,023,096...18,041,730
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G |
LAT |
linker for activation of T cells |
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ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 3:18,638,992...18,644,353
Ensembl chr 3:18,639,151...18,644,348
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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 |
|
NCBI chr 3:18,291,444...18,299,410
Ensembl chr 3:18,291,445...18,299,567
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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 |
|
NCBI chr 3:18,043,032...18,047,531
Ensembl chr 3:18,042,007...18,047,530
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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 |
|
NCBI chr 3:18,056,548...18,081,169
Ensembl chr 3:18,057,177...18,081,155
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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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NCBI chr 3:18,609,943...18,624,150
Ensembl chr 3:18,609,912...18,622,640
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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 |
|
NCBI chr 3:18,052,679...18,056,920
Ensembl chr 3:18,052,935...18,056,837
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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 |
|
NCBI chr 3:18,262,817...18,271,588
Ensembl chr 3:18,262,823...18,271,586
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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 |
|
NCBI chr 3:18,048,614...18,052,481
Ensembl chr 3:18,048,618...18,052,480
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G |
QPRT |
quinolinate phosphoribosyltransferase |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 3:17,987,223...18,001,712
Ensembl chr 3:17,987,242...18,001,711
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G |
RABEP2 |
rabaptin, RAB GTPase binding effector protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 3:18,568,264...18,586,259
Ensembl chr 3:18,568,266...18,585,925
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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 |
|
NCBI chr 3:18,098,109...18,119,522
Ensembl chr 3:18,098,102...18,119,558
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G |
SFTPA1 |
surfactant protein A1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr14:82,091,178...82,095,393
Ensembl chr14:82,091,178...82,095,393
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G |
SH2B1 |
SH2B adaptor protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 3:18,533,282...18,543,133
Ensembl chr 3:18,524,820...18,543,135
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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 |
|
NCBI chr 3:18,346,501...18,349,509
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G |
SPN |
sialophorin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 |
|
NCBI chr 3:17,978,731...17,982,222
Ensembl chr 3:17,978,801...17,982,864
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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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NCBI chr 3:18,629,646...18,638,442
Ensembl chr 3:18,629,646...18,639,214
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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 |
|
NCBI chr 3:18,178,347...18,198,092
Ensembl chr 3:18,177,737...18,198,085
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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 |
|
NCBI chr 3:18,271,983...18,277,864
Ensembl chr 3:18,271,983...18,277,580
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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 |
|
NCBI chr 3:18,224,652...18,231,416
Ensembl chr 3:18,223,875...18,231,844
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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 |
|
NCBI chr 3:18,166,771...18,177,834
Ensembl chr 3:18,167,923...18,176,563
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G |
TUFM |
Tu translation elongation factor, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p11.2 deletion syndrome | ClinVar Annotator: match by term: Distal 16p11.2 microdeletion syndrome |
ClinVar |
PMID:25741868 PMID:31690835 PMID:32238909 |
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NCBI chr 3:18,521,119...18,524,705
Ensembl chr 3:18,521,128...18,524,959
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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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NCBI chr 3:18,277,999...18,281,342
Ensembl chr 3:18,278,002...18,281,298
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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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NCBI chr 3:18,018,866...18,019,501
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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 chr 3:23,796,803...23,835,255
Ensembl chr 3:23,796,773...23,835,247
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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 chr 3:23,887,120...23,980,231
Ensembl chr 3:23,887,125...23,956,373
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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 |
|
NCBI chr 3:24,107,878...24,176,161
Ensembl chr 3:24,107,877...24,176,166
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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 |
|
NCBI chr 3:24,176,240...24,201,861
Ensembl chr 3:24,185,627...24,201,541
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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 |
|
NCBI chr 3:23,846,979...23,880,631
Ensembl chr 3:23,846,359...23,880,614
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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 |
|
NCBI chr 3:23,989,671...24,026,548
Ensembl chr 3:23,990,242...24,023,024
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G |
UQCRC2 |
ubiquinol-cytochrome c reductase core protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb |
ClinVar |
PMID:25741868 |
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NCBI chr 3:24,197,743...24,228,831
Ensembl chr 3:24,197,747...24,228,832
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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 |
|
NCBI chr 3:24,028,836...24,097,582
Ensembl chr 3:24,031,331...24,097,393
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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 chr 6:28,277,649...28,280,409
Ensembl chr 6:28,277,614...28,280,405
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G |
C6H16orf86 |
chromosome 6 C16orf86 homolog |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 6:28,287,414...28,289,248
Ensembl chr 6:28,287,414...28,289,406
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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 chr 6:28,265,130...28,277,649
Ensembl chr 6:28,265,135...28,277,641
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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 chr 6:28,188,002...28,261,009
Ensembl chr 6:28,195,647...28,261,009
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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 chr 6:28,283,108...28,289,266
Ensembl chr 6:28,283,117...28,287,306
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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 chr 6:28,293,957...28,348,197
Ensembl chr 6:28,293,967...28,348,161
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G |
PARD6A |
par-6 family cell polarity regulator alpha |
|
ISO |
ClinVar Annotator: match by term: Chromosome 16q22 deletion syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 6:28,280,502...28,282,923
Ensembl chr 6:28,280,502...28,283,788
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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 chr 6:28,352,001...28,428,383
Ensembl chr 6:28,352,003...28,428,370
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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 chr12:16,901,611...17,096,912
Ensembl chr12:16,903,450...17,096,916
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G |
TP53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14961032 |
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NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818
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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 chr12:42,793,755...42,808,937
Ensembl chr12:42,795,409...42,808,897
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G |
AATF |
apoptosis antagonizing transcription factor |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr12:38,461,809...38,563,537
Ensembl chr12:38,461,830...38,564,306
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G |
ACACA |
acetyl-CoA carboxylase alpha |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr12:38,580,916...38,875,067
Ensembl chr12:38,581,457...38,824,712
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G |
C12H17orf78 |
chromosome 12 C17orf78 homolog |
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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 chr12:38,840,980...38,860,454
Ensembl chr12:38,841,849...38,855,036
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G |
CCL3L1 |
chemokine (C-C motif) ligand 3-like 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr12:39,491,999...39,493,345
Ensembl chr12:39,491,914...39,493,774
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G |
CCL4 |
C-C motif chemokine ligand 4 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:24088041 PMID:26633545 |
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NCBI chr12:39,479,190...39,480,511
Ensembl chr12:39,478,882...39,481,082
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G |
DDX52 |
DExD-box helicase 52 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr12:39,072,310...39,095,558
Ensembl chr12:39,072,314...39,143,685
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G |
DHRS11 |
dehydrogenase/reductase 11 |
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ISO |
ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome |
ClinVar |
PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 |
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NCBI chr12:38,114,017...38,123,360
Ensembl chr12:38,113,912...38,123,839
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G |
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 chr12:38,941,052...38,978,568
Ensembl chr12:38,941,124...38,975,000
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G |
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 chr12:38,074,033...38,111,719
Ensembl chr12:38,074,094...38,111,710
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G |
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 chr12:39,143,119...39,201,631
Ensembl chr12:39,143,121...39,201,631
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G |
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 chr12:38,450,708...38,457,583
Ensembl chr12:38,450,708...38,456,139
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G |
LOC100515857 |
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 chr12:39,521,649...39,575,970
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G |
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 chr12:38,123,505...38,143,894
Ensembl chr12:38,124,400...38,144,083
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G |
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 chr12:23,751,921...23,766,476
Ensembl chr12:23,751,926...23,766,459
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G |
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 chr12:38,020,102...38,073,968
Ensembl chr12:38,020,110...38,061,883
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G |
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 chr12:38,059,674...38,065,702
Ensembl chr12:38,061,927...38,065,713
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G |
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 chr12:38,974,567...39,069,868
Ensembl chr12:38,975,916...39,069,798
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G |
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 chr12:38,875,156...38,928,011
Ensembl chr12:38,875,250...38,928,005
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G |
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 chr12:38,013,931...38,027,928
Ensembl chr12:38,013,963...38,022,927
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G |
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 chr 6:97,200,890...97,234,577
Ensembl chr 6:97,200,922...97,235,366
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G |
AKAIN1 |
A-kinase anchor inhibitor 1 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 6:101,786,506...101,873,213
Ensembl chr 6:101,816,967...101,873,206
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G |
ANKRD12 |
ankyrin repeat domain 12 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 6:98,697,207...98,814,727
Ensembl chr 6:98,697,174...98,815,336
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G |
APCDD1 |
APC down-regulated 1 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 6:97,991,418...98,026,590
Ensembl chr 6:97,992,233...98,026,766
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G |
ARHGAP28 |
Rho GTPase activating protein 28 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 6:100,494,385...100,681,008
Ensembl chr 6:100,494,652...100,655,708
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G |
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 chr 6:96,611,560...96,733,800
Ensembl chr 6:96,710,701...96,733,795 Ensembl chr 6:96,710,701...96,733,795
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G |
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 chr 6:96,893,529...96,913,226
Ensembl chr 6:96,893,571...96,912,389
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G |
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 chr 6:97,356,924...97,359,613
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G |
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 chr 6:97,253,074...97,268,355
Ensembl chr 6:97,253,074...97,267,405
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G |
DLGAP1 |
DLG associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 6:102,333,088...103,199,841
Ensembl chr 6:102,642,677...103,199,837
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G |
EMILIN2 |
elastin microfibril interfacer 2 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 6:103,730,618...103,786,921
Ensembl chr 6:103,730,626...103,786,927
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G |
EPB41L3 |
erythrocyte membrane protein band 4.1 like 3 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 6:101,420,376...101,671,177
Ensembl chr 6:101,420,396...101,671,169
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G |
FAM210A |
family with sequence similarity 210 member A |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 6:96,363,440...96,394,001
Ensembl chr 6:96,384,758...96,393,999
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G |
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 chr 6:97,342,468...97,429,334
Ensembl chr 6:97,342,474...97,429,364
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G |
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 chr 6:97,280,008...97,309,729
Ensembl chr 6:97,280,010...97,309,745
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G |
LAMA1 |
laminin subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 6:100,332,843...100,468,457
Ensembl chr 6:100,332,956...100,468,454
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G |
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 chr 6:96,401,650...96,578,162
Ensembl chr 6:96,401,654...96,577,643
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G |
LOC733637 |
myosin regulatory light chain 2 protein |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 6:103,413,841...103,424,790
Ensembl chr 6:103,409,717...103,420,286
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G |
LPIN2 |
lipin 2 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 6:103,625,725...103,728,151
Ensembl chr 6:103,687,743...103,728,148
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G |
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 chr 6:100,290,257...100,292,242
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G |
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 chr 6:96,241,744...96,268,870
Ensembl chr 6:96,265,764...96,266,657
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G |
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 chr 6:96,322,276...96,323,795
Ensembl chr 6:96,322,422...96,323,339
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G |
MPPE1 |
metallophosphoesterase 1 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 6:97,324,652...97,344,068
Ensembl chr 6:97,324,727...97,344,736
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G |
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 chr 6:99,062,347...99,178,570
Ensembl chr 6:99,062,354...99,178,468
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G |
MYOM1 |
myomesin 1 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 6:103,451,206...103,593,093
Ensembl chr 6:103,451,343...103,597,297
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G |
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 chr 6:97,961,307...97,974,974
Ensembl chr 6:97,961,313...97,974,636
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G |
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 chr 6:98,819,156...98,852,561
Ensembl chr 6:98,815,885...98,852,524
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G |
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 chr 6:97,644,115...97,945,693
Ensembl chr 6:97,643,978...97,944,456
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G |
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 chr 6:98,462,833...98,539,649
Ensembl chr 6:98,462,855...98,544,477
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G |
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 chr 6:97,140,129...97,200,792
Ensembl chr 6:97,146,206...97,172,533
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G |
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 chr 6:96,879,009...96,893,551
Ensembl chr 6:96,878,139...96,893,474
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G |
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 chr 6:96,769,862...96,847,136
Ensembl chr 6:96,770,253...96,847,125
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G |
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 chr 6:99,350,301...100,092,966
Ensembl chr 6:99,350,303...100,092,883
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G |
RAB12 |
RAB12, member RAS oncogene family |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 6:99,216,225...99,244,627
Ensembl chr 6:99,216,228...99,244,868
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G |
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 chr 6:98,278,644...98,385,857
Ensembl chr 6:98,278,647...98,385,795
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G |
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 chr 6:98,550,925...98,598,945
Ensembl chr 6:98,550,933...98,598,206
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G |
RNMT |
RNA guanine-7 methyltransferase |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 6:96,338,283...96,362,814
Ensembl chr 6:96,338,288...96,360,169
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G |
SMCHD1 |
structural maintenance of chromosomes flexible hinge domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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NCBI chr 6:103,809,732...103,986,057
Ensembl chr 6:103,808,066...103,965,335
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G |
SPIRE1 |
spire type actin nucleation factor 1 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
|
NCBI chr 6:96,934,023...97,114,591
Ensembl chr 6:96,934,227...97,114,587
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G |
TGIF1 |
TGFB induced factor homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Del(18p) syndrome |
ClinVar |
PMID:31690835 |
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