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G |
Bag2 |
BAG cochaperone 2 |
|
ISO |
ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome |
ClinVar |
|
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NCBI chrNW_004936476:4,131,159...4,142,357
Ensembl chrNW_004936476:4,129,013...4,142,357
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G |
Megf8 |
multiple EGF like domains 8 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome |
ClinVar |
|
|
NCBI chrNW_004936706:157,167...198,071
Ensembl chrNW_004936706:157,019...197,500
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G |
Rab23 |
RAB23, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: ACPS 2 | ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Carpenter syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17503333 PMID:17576681 PMID:20358613 PMID:21412941 PMID:23599695 PMID:24458945 PMID:25168863 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004936476:4,095,829...4,127,714
Ensembl chrNW_004936476:4,095,329...4,127,701
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G |
Bag2 |
BAG cochaperone 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 1 |
ClinVar |
|
|
NCBI chrNW_004936476:4,131,159...4,142,357
Ensembl chrNW_004936476:4,129,013...4,142,357
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G |
Rab23 |
RAB23, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 1 | ClinVar Annotator: match by term: RAB23-related condition |
OMIM ClinVar |
PMID:17503333 PMID:20358613 PMID:21412941 PMID:23599695 PMID:24458945 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004936476:4,095,829...4,127,714
Ensembl chrNW_004936476:4,095,329...4,127,701
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G |
Actmap |
actin maturation protease |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,024,581...3,029,867
Ensembl chrNW_004936661:3,024,984...3,029,158
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G |
Akt2 |
AKT serine/threonine kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,652,568...2,694,039
Ensembl chrNW_004936661:2,652,566...2,694,086
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G |
Arhgef1 |
Rho guanine nucleotide exchange factor 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:540,987...558,792
Ensembl chrNW_004936706:540,748...558,823
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G |
Atp1a3 |
ATPase Na+/K+ transporting subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:476,473...494,659
Ensembl chrNW_004936706:477,107...495,525
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G |
Axl |
AXL receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,658,140...3,687,290
Ensembl chrNW_004936661:3,657,831...3,687,816
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G |
B3gnt8 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,817,791...3,819,854
Ensembl chrNW_004936661:3,818,120...3,819,307
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G |
B9d2 |
B9 domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,759,031...3,765,361
Ensembl chrNW_004936661:3,758,909...3,765,513
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G |
Bckdha |
branched chain keto acid dehydrogenase E1 subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,799,998...3,817,560
Ensembl chrNW_004936661:3,799,955...3,819,851
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G |
Blvrb |
biliverdin reductase B |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,808,998...2,818,123
Ensembl chrNW_004936661:2,808,950...2,818,178
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G |
Ccdc97 |
coiled-coil domain containing 97 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,724,943...3,736,936
Ensembl chrNW_004936661:3,725,591...3,736,877
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G |
Ccnp |
cyclin P |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,643,546...2,648,600
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G |
Cd79a |
CD79a molecule |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:561,195...564,577
Ensembl chrNW_004936706:561,140...564,661
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G |
Cic |
capicua transcriptional repressor |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936706:216,394...243,361
Ensembl chrNW_004936706:212,833...242,756
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G |
Cnfn |
cornifelin |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:149,643...151,088
Ensembl chrNW_004936706:149,643...151,088
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G |
Coq8b |
coenzyme Q8B |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,989,164...3,008,955
Ensembl chrNW_004936661:2,989,162...3,006,289
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G |
CUNH19orf47 |
chromosome unknown C19orf47 homolog |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,719,382...2,741,373
Ensembl chrNW_004936661:2,719,387...2,741,373
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G |
Dedd2 |
death effector domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:285,874...302,910
Ensembl chrNW_004936706:285,820...305,869
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G |
Dll3 |
delta like canonical Notch ligand 3 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,322,531...2,330,150
Ensembl chrNW_004936661:2,322,531...2,329,953
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G |
Dmac2 |
distal membrane arm assembly component 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,824,379...3,826,411
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G |
Dmrtc2 |
DMRT like family C2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:582,541...586,735
Ensembl chrNW_004936706:582,541...586,715
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G |
Dyrk1b |
dual specificity tyrosine phosphorylation regulated kinase 1B |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,436,702...2,444,758
Ensembl chrNW_004936661:2,433,483...2,444,752
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|
G |
Egln2 |
egl-9 family hypoxia inducible factor 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,061,391...3,070,219
Ensembl chrNW_004936661:3,061,308...3,070,192
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G |
Eid2 |
EP300 interacting inhibitor of differentiation 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,364,179...2,366,739
Ensembl chrNW_004936661:2,365,861...2,366,586
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|
G |
Eid2b |
EP300 interacting inhibitor of differentiation 2B |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,352,726...2,354,968
Ensembl chrNW_004936661:2,354,497...2,354,966
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|
G |
Erf |
ETS2 repressor factor |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:255,479...263,154
Ensembl chrNW_004936706:255,407...263,179
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G |
Erich4 |
glutamate rich 4 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,829,881...3,834,379
Ensembl chrNW_004936661:3,829,577...3,834,487
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G |
Exosc5 |
exosome component 5 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,790,283...3,799,602
Ensembl chrNW_004936661:3,790,302...3,799,660
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|
G |
Fbl |
fibrillarin |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,444,985...2,455,423
Ensembl chrNW_004936661:2,444,866...2,455,528
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|
G |
Fcgbp |
Fc gamma binding protein |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,458,960...2,494,793
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|
G |
Grik5 |
glutamate ionotropic receptor kainate type subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:410,806...469,000
Ensembl chrNW_004936706:410,938...464,714
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|
G |
Gsk3a |
glycogen synthase kinase 3 alpha |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:266,462...277,256
Ensembl chrNW_004936706:269,126...277,256
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|
G |
Hipk4 |
homeodomain interacting protein kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,764,661...2,770,110
Ensembl chrNW_004936661:2,764,661...2,770,110
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|
G |
Hnrnpul1 |
heterogeneous nuclear ribonucleoprotein U like 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,688,328...3,723,405
Ensembl chrNW_004936661:3,690,137...3,723,391
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|
G |
Itpkc |
inositol-trisphosphate 3-kinase C |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,006,506...3,023,355
Ensembl chrNW_004936661:3,006,505...3,022,823
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|
G |
Leutx |
leucine twenty homeobox |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,399,154...2,406,044
|
|
G |
Lipe |
lipase E, hormone sensitive type |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:122,939...139,506
Ensembl chrNW_004936706:128,133...141,276
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|
G |
Ltbp4 |
latent transforming growth factor beta binding protein 4 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,919,444...2,945,847
Ensembl chrNW_004936661:2,919,550...2,945,599
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|
G |
Lypd4 |
LY6/PLAUR domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:591,128...593,307
|
|
G |
Map3k10 |
mitogen-activated protein kinase kinase kinase 10 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,623,356...2,638,218
|
|
G |
Megf8 |
multiple EGF like domains 8 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23063620 PMID:25326635 PMID:25741868 PMID:28492532 PMID:28914635 PMID:29168297 More...
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NCBI chrNW_004936706:157,167...198,071
Ensembl chrNW_004936706:157,019...197,500
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G |
Mia |
MIA SH3 domain containing |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,047,735...3,049,050
Ensembl chrNW_004936661:3,047,747...3,049,064
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G |
Numbl |
NUMB like endocytic adaptor protein |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,962,741...2,984,763
Ensembl chrNW_004936661:2,963,510...2,984,740
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|
G |
Pafah1b3 |
platelet activating factor acetylhydrolase 1b catalytic subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:212,635...215,498
Ensembl chrNW_004936706:212,096...215,497
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G |
Pld3 |
phospholipase D family member 3 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,741,523...2,763,945
Ensembl chrNW_004936661:2,741,234...2,767,121
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G |
Plekhg2 |
pleckstrin homology and RhoGEF domain containing G2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,257,097...2,268,301
Ensembl chrNW_004936661:2,257,068...2,268,716
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G |
Pou2f2 |
POU class 2 homeobox 2 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:335,613...393,854
Ensembl chrNW_004936706:320,539...392,414
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G |
Prr19 |
proline rich 19 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:209,013...210,326
Ensembl chrNW_004936706:209,083...210,247
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G |
Prx |
periaxin |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,772,446...2,783,120
Ensembl chrNW_004936661:2,772,621...2,787,647
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G |
Psmc4 |
proteasome 26S subunit, ATPase 4 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,522,665...2,528,279
Ensembl chrNW_004936661:2,522,615...2,528,284
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G |
Rab4b |
RAB4B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,049,802...3,059,921
Ensembl chrNW_004936661:3,049,638...3,059,963
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G |
Rabac1 |
Rab acceptor 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:498,271...500,847
Ensembl chrNW_004936706:497,963...500,842
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G |
Rps16 |
ribosomal protein S16 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,271,747...2,274,769
Ensembl chrNW_004936661:2,271,396...2,274,965
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G |
Rps19 |
ribosomal protein S19 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:568,443...575,973
Ensembl chrNW_004936706:568,364...575,126
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G |
Selenov |
selenoprotein V |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,335,170...2,338,422
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|
G |
Sertad1 |
SERTA domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,792,501...2,793,901
Ensembl chrNW_004936661:2,792,850...2,793,590
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G |
Sertad3 |
SERTA domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,801,975...2,806,095
|
|
G |
Shkbp1 |
SH3KBP1 binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,903,986...2,915,908
Ensembl chrNW_004936661:2,903,938...2,915,910
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G |
Snrpa |
small nuclear ribonucleoprotein polypeptide A |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,030,104...3,041,877
Ensembl chrNW_004936661:3,029,802...3,041,877
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G |
Sptbn4 |
spectrin beta, non-erythrocytic 4 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,831,132...2,903,619
Ensembl chrNW_004936661:2,827,572...2,903,655
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G |
Supt5h |
SPT5 homolog, DSIF elongation factor subunit |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,280,390...2,308,085
Ensembl chrNW_004936661:2,280,285...2,308,780
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|
G |
Tgfb1 |
transforming growth factor beta 1 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,742,080...3,758,266
Ensembl chrNW_004936661:3,742,066...3,758,272
|
|
G |
Timm50 |
translocase of inner mitochondrial membrane 50 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,310,169...2,318,035
Ensembl chrNW_004936661:2,310,125...2,318,258
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|
G |
Tmem145 |
transmembrane protein 145 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:198,105...206,794
Ensembl chrNW_004936706:198,339...206,739
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|
G |
Tmem91 |
transmembrane protein 91 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:3,784,545...3,788,434
Ensembl chrNW_004936661:3,783,709...3,788,244
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|
G |
Ttc9b |
tetratricopeptide repeat domain 9B |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936661:2,638,394...2,640,785
Ensembl chrNW_004936661:2,637,189...2,640,725
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|
G |
Znf526 |
zinc finger protein 526 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:278,730...284,232
Ensembl chrNW_004936706:280,075...282,078
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G |
Znf546 |
zinc finger protein 546 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004936661:2,545,011...2,564,695
Ensembl chrNW_004936661:2,544,960...2,567,691
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G |
Znf574 |
zinc finger protein 574 |
|
ISO |
ClinVar Annotator: match by term: Carpenter syndrome 2 |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004936706:401,188...406,481
Ensembl chrNW_004936706:401,447...404,140
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