|
G |
Bub1b |
BUB1 mitotic checkpoint serine/threonine kinase B |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:15475955 PMID:24728327 PMID:25741868 PMID:28492532 |
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NCBI chr 3:126,017,019...126,069,470
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|
G |
Cep57 |
centrosomal protein 57 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:21552266 PMID:28553959 |
|
NCBI chr 8:10,669,588...10,689,257
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|
G |
Trip13 |
thyroid hormone receptor interactor 13 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28553959 |
|
NCBI chr 1:29,357,093...29,402,078
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|
|
G |
Ankrd63 |
ankyrin repeat domain 63 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:105,675,148...105,679,970
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|
G |
Bahd1 |
bromo adjacent homology domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:105,891,207...105,914,414
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|
G |
Bmf |
Bcl2 modifying factor |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:125,953,466...125,974,087
|
|
G |
Bub1b |
BUB1 mitotic checkpoint serine/threonine kinase B |
|
ISO ISS |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 OMIM:257300 |
OMIM ClinVar MouseDO |
PMID:9521327 PMID:9536098 PMID:9916837 PMID:11169558 PMID:15475955 PMID:16199547 PMID:16411201 PMID:17576681 PMID:18548531 PMID:19763152 PMID:20307669 PMID:20516114 PMID:21190457 PMID:21520333 PMID:22406018 PMID:24033266 PMID:24728327 PMID:25502805 PMID:25640679 PMID:25741868 PMID:26822237 PMID:27239782 PMID:27331020 PMID:28492532 PMID:28591191 PMID:28767289 PMID:28976722 PMID:29625052 PMID:30512160 PMID:30716324 PMID:31053147 PMID:31738183 PMID:32884756 PMID:34308104 PMID:36451132 More...
|
|
NCBI chr 3:126,017,019...126,069,470
|
|
G |
C3h15orf62 |
similar to human chromosome 15 open reading frame 62 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,164,179...106,167,404
|
|
G |
Ccdc32 |
coiled-coil domain containing 32 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:126,452,293...126,464,845
|
|
G |
Ccdc9b |
coiled-coil domain containing 9B |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:105,736,120...105,745,039
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|
G |
Cep57 |
centrosomal protein 57 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:12116237 PMID:21552266 PMID:24259107 PMID:25741868 PMID:28492532 PMID:30010053 More...
|
|
NCBI chr 8:10,669,588...10,689,257
|
|
G |
Chac1 |
ChaC glutathione-specific gamma-glutamylcyclotransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:126,796,131...126,799,352
|
|
G |
Chp1 |
calcineurin-like EF-hand protein 1 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:126,989,800...127,025,071
|
|
G |
Chst14 |
carbohydrate sulfotransferase 14 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:126,370,348...126,372,405
|
|
G |
Disp2 |
dispatched RND transporter family member 2 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:105,762,303...105,777,826
|
|
G |
Dll4 |
delta like canonical Notch ligand 4 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:126,770,945...126,780,769
|
|
G |
Dnajc17 |
DnaJ heat shock protein family (Hsp40) member C17 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,162,197...106,195,771
|
|
G |
Eif2ak4 |
eukaryotic translation initiation factor 2 alpha kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:125,810,207...125,895,574
|
|
G |
Exd1 |
exonuclease 3'-5' domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,507,839...106,535,922
|
|
G |
Fam98b |
family with sequence similarity 98, member B |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:104,134,803...104,164,249
|
|
G |
Fsip1 |
fibrous sheath interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:105,074,584...105,217,180
|
|
G |
Gchfr |
GTP cyclohydrolase I feedback regulator |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,158,046...106,162,080
|
|
G |
Gpr176 |
G protein-coupled receptor 176 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:125,690,750...125,791,172
|
|
G |
Ino80 |
INO80 complex ATPase subunit |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:126,822,280...126,919,532
|
|
G |
Itpka |
inositol-trisphosphate 3-kinase A |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:127,179,841...127,188,405
|
|
G |
Ivd |
isovaleryl-CoA dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:105,851,710...105,872,144
|
|
G |
Knl1 |
kinetochore scaffold 1 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,029,627...106,091,915
|
|
G |
Knstrn |
kinetochore-localized astrin/SPAG5 binding protein |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:105,800,762...105,820,555
|
|
G |
Ltk |
leukocyte receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:127,188,479...127,195,356
|
|
G |
Mad1l1 |
mitotic arrest deficient 1 like 1 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr12:14,320,892...14,630,750
|
|
G |
Mapkbp1 |
mitogen activated protein kinase binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:127,401,612...127,452,152
|
|
G |
Mga |
MAX dimerization protein MGA |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:127,300,558...127,396,694
|
|
G |
Ndufaf1 |
NADH:ubiquinone oxidoreductase complex assembly factor 1 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,639,025...106,650,549
|
|
G |
Nusap1 |
nucleolar and spindle associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:127,057,220...127,092,779
|
|
G |
Oip5 |
Opa interacting protein 5 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:127,047,559...127,057,043
|
|
G |
Pak6 |
p21 (RAC1) activated kinase 6 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:126,092,576...126,128,320
|
|
G |
Phgr1 |
proline, histidine and glycine rich 1 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:105,742,822...105,760,835
|
|
G |
Plcb2 |
phospholipase C, beta 2 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:105,683,676...105,704,384
|
|
G |
Ppp1r14d |
protein phosphatase 1, regulatory (inhibitor) subunit 14D |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,205,043...106,219,290
|
|
G |
Rad51 |
RAD51 recombinase |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:126,554,210...126,578,888
|
|
G |
Rasgrp1 |
RAS guanyl releasing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:124,624,039...124,684,079
|
|
G |
Rhov |
ras homolog family member V |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:126,714,608...126,723,617
|
|
G |
Rmdn3 |
regulator of microtubule dynamics 3 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:126,579,811...126,601,016
|
|
G |
Rpap1 |
RNA polymerase II associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,746,642...106,768,182
|
|
G |
Rpusd2 |
RNA pseudouridine synthase domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,017,759...106,023,010
|
|
G |
Rtf1 |
Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,659,363...106,718,956
|
|
G |
Spint1 |
serine peptidase inhibitor, Kunitz type 1 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:126,685,017...126,697,957
|
|
G |
Spred1 |
sprouty-related, EVH1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:124,437,230...124,504,358
|
|
G |
Srp14 |
signal recognition particle 14 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:125,896,128...125,899,819
|
|
G |
Thbs1 |
thrombospondin 1 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:125,510,250...125,525,402
|
|
G |
Tyro3 |
TYRO3 protein tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:127,231,468...127,254,806
|
|
G |
Vps18 |
VPS18 core subunit of CORVET and HOPS complexes |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,279,444...106,290,298
|
|
G |
Zfyve19 |
zinc finger FYVE-type containing 19 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:106,195,779...106,203,969
|
|
|
G |
Cep57 |
centrosomal protein 57 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 2 |
OMIM ClinVar |
PMID:9536098 PMID:12116237 PMID:16199547 PMID:17576681 PMID:21552266 PMID:24259107 PMID:25741868 PMID:28492532 PMID:30010053 More...
|
|
NCBI chr 8:10,669,588...10,689,257
|
|
G |
Mtmr2 |
myotubularin related protein 2 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:10,617,993...10,670,724
|
|
|
G |
Trip13 |
thyroid hormone receptor interactor 13 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 3 | ClinVar Annotator: match by term: TRIP13-related condition |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28553959 PMID:32473092 More...
|
|
NCBI chr 1:29,357,093...29,402,078
|
|
|
G |
Cenatac |
centrosomal AT-AC splicing factor |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 4 |
OMIM ClinVar |
PMID:34009673 |
|
NCBI chr 8:53,632,777...53,639,661
|
|
|
G |
Slf2 |
SMC5-SMC6 complex localization factor 2 |
|
ISO |
ClinVar Annotator: match by term: Atelis syndrome 1 |
OMIM ClinVar |
PMID:36333305 |
|
NCBI chr 1:243,782,786...243,845,418
|
|
|
G |
Smc5 |
structural maintenance of chromosomes 5 |
|
ISO |
ClinVar Annotator: match by term: Atelis syndrome 2 |
OMIM ClinVar |
PMID:36333305 |
|
NCBI chr 1:220,769,366...220,839,138
|
|
|
G |
Mad1l1 |
mitotic arrest deficient 1 like 1 |
|
ISO |
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition |
OMIM ClinVar |
PMID:25741868 PMID:36322655 |
|
NCBI chr12:14,320,892...14,630,750
|
|