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G |
Add1 |
adducin 1 |
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ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182
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G |
Adra2c |
adrenoceptor alpha 2C |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:75,470,884...75,472,846
Ensembl chr14:75,471,143...75,472,846
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G |
Ccdc39 |
coiled-coil domain 39 molecular ruler complex subunit |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:21131972 PMID:23255504 PMID:24498942 PMID:25741868 PMID:28492532 PMID:30067075 PMID:31980526 More...
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NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350
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G |
Cytl1 |
cytokine like 1 |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:73,053,876...73,058,886
Ensembl chr14:73,053,877...73,058,886
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G |
Dok7 |
docking protein 7 |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386
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G |
Evc |
EvC ciliary complex subunit 1 |
|
ISO ISS |
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Ellis-van Creveld syndrome OMIM:225500 CTD Direct Evidence: marker/mechanism DNA:mutation:exon:c.1678G>T(human) DNA:deletion:cds:c.731_757(human) |
ClinVar MouseDO CTD OMIM RGD |
PMID:7628126 PMID:7635486 PMID:9066272 PMID:9536098 PMID:10700162 PMID:10700184 PMID:14217223 PMID:16199547 PMID:17024374 PMID:17576681 PMID:18454448 PMID:18947413 PMID:19251731 PMID:19744229 PMID:19810119 PMID:19876929 PMID:20184732 PMID:22190900 PMID:23220543 PMID:23924873 PMID:24431330 PMID:25046119 PMID:25174843 PMID:25492405 PMID:25500235 PMID:25640679 PMID:25741868 PMID:26621368 PMID:26625674 PMID:26748586 PMID:27453244 PMID:28253570 PMID:28492532 PMID:28854412 PMID:29068549 PMID:29229899 PMID:29321360 PMID:30805457 PMID:31028937 PMID:31319225 PMID:31338997 PMID:32055034 PMID:33875766 PMID:34645488 PMID:10700184 PMID:29229899 PMID:34037314 More...
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RGD:1302823, RGD:155260290, RGD:155260285 |
NCBI chr14:73,456,181...73,498,955
Ensembl chr14:73,456,222...73,498,099
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G |
Evc2 |
EvC ciliary complex subunit 2 |
susceptibility |
ISO ISS |
DNA:mutations ClinVar Annotator: match by term: Ellis-van Creveld syndrome OMIM:225500 CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:7218275 PMID:9536098 PMID:12468274 PMID:12571802 PMID:16199547 PMID:16404586 PMID:17024374 PMID:17576681 PMID:18182642 PMID:18454448 PMID:19251731 PMID:19810119 PMID:19876929 PMID:20184732 PMID:21199751 PMID:21815252 PMID:22190900 PMID:22406498 PMID:23026208 PMID:23220543 PMID:24033266 PMID:25047945 PMID:25174843 PMID:25326635 PMID:25500235 PMID:25525159 PMID:25640679 PMID:25741868 PMID:26064711 PMID:26580685 PMID:26748586 PMID:26818569 PMID:27168972 PMID:27280866 PMID:28492532 PMID:29068549 PMID:29321360 PMID:29456477 PMID:30881389 PMID:31645978 PMID:32369273 PMID:33448881 PMID:35927022 PMID:12571802 More...
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RGD:1600212 |
NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516
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G |
Fam193a |
family with sequence similarity 193, member A |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,250,103...76,382,525
Ensembl chr14:76,256,161...76,382,514
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G |
Grk4 |
G protein-coupled receptor kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:75,998,554...76,080,808
Ensembl chr14:76,006,218...76,080,693
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G |
Haus3 |
HAUS augmin-like complex, subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,580,549...76,599,542
Ensembl chr14:76,580,546...76,752,463
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G |
Hgfac |
HGF activator |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:75,707,588...75,714,182
Ensembl chr14:75,707,591...75,714,278
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G |
Htt |
huntingtin |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:75,845,836...75,996,094
Ensembl chr14:75,845,836...75,995,070
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G |
Lrpap1 |
LDL receptor related protein associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:75,651,371...75,663,380
Ensembl chr14:75,651,376...75,665,414
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G |
Lyar |
Ly1 antibody reactive |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:72,576,878...72,590,854
Ensembl chr14:72,576,879...72,590,612
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G |
Mfsd10 |
major facilitator superfamily domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,103,762...76,107,385
Ensembl chr14:76,103,815...76,107,377
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G |
Msantd1 |
Myb/SANT DNA binding domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:75,832,368...75,845,687
Ensembl chr14:75,835,380...75,844,183
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G |
Msx1 |
msh homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:72,961,036...72,964,970
Ensembl chr14:72,961,148...72,964,966
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G |
Mxd4 |
Max dimerization protein 4 |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,562,105...76,576,224
Ensembl chr14:76,561,774...76,576,221
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G |
Nop14 |
NOP14 nucleolar protein |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,081,313...76,102,454
Ensembl chr14:76,080,793...76,102,453
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G |
Nsg1 |
neuronal vesicle trafficking associated 1 |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:72,648,771...72,670,521
Ensembl chr14:72,648,741...72,670,514
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G |
Otop1 |
otopetrin 1 |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:72,505,036...72,532,497
Ensembl chr14:72,503,592...72,532,497
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G |
Poln |
DNA polymerase nu |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,579,983...76,752,460
Ensembl chr14:76,580,546...76,752,463
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G |
Rgs12 |
regulator of G-protein signaling 12 |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:75,715,925...75,824,012
Ensembl chr14:75,715,934...75,794,596
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G |
Rnf4 |
ring finger protein 4 |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,401,292...76,423,270
Ensembl chr14:76,401,299...76,422,566
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G |
Sh3bp2 |
SH3-domain binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,176,097...76,213,300
Ensembl chr14:76,176,101...76,213,251
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G |
Stk32b |
serine/threonine kinase 32B |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:73,077,944...73,337,976
Ensembl chr14:73,078,061...73,336,458
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G |
Stx18 |
syntaxin 18 |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:72,670,683...72,761,423
Ensembl chr14:72,670,411...72,761,464
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G |
Tmem128 |
transmembrane protein 128 |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:72,539,530...72,548,623
Ensembl chr14:72,539,532...72,548,550
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G |
Tnip2 |
TNFAIP3 interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,228,350...76,245,553
Ensembl chr14:76,228,371...76,275,265
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G |
Traf3ip1 |
TRAF3 interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977
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G |
Wdr35 |
WD repeat domain 35 |
|
ISO |
DNA:snps:introns, cds:multiple (human) ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:25908617 |
RGD:11073852 |
NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
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G |
Zbtb49 |
zinc finger and BTB domain containing 49 |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:72,590,692...72,612,404
Ensembl chr14:72,590,708...72,612,404
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G |
Zfyve28 |
zinc finger FYVE-type containing 28 |
|
ISO |
ClinVar Annotator: match by term: Ellis-van Creveld syndrome |
ClinVar |
PMID:17024374 PMID:18454448 PMID:19810119 PMID:19876929 PMID:25174843 PMID:28492532 More...
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NCBI chr14:76,468,424...76,554,039
Ensembl chr14:76,468,424...76,554,039
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G |
Abcg5 |
ATP binding cassette subfamily G member 5 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:26077881 |
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NCBI chr 6:9,965,118...9,990,563
Ensembl chr 6:9,965,118...9,990,563
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G |
Csrnp3 |
cysteine and serine rich nuclear protein 3 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950
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G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 | ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:26874042 PMID:28492532 PMID:29068549 PMID:32753734 PMID:33755199 PMID:34740920 More...
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NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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G |
Dync2i1 |
dynein 2 intermediate chain 1 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29068549 |
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NCBI chr 6:137,133,418...137,189,937
Ensembl chr 6:137,133,418...137,188,719
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G |
Dync2li1 |
dynein cytoplasmic 2 light intermediate chain 1 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:9536098 PMID:17576681 PMID:26077881 PMID:26130459 PMID:28492532 PMID:32815859 More...
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NCBI chr 6:9,992,537...10,025,355
Ensembl chr 6:9,992,541...10,025,336
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G |
Evc2 |
EvC ciliary complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:19251731 PMID:25741868 PMID:28492532 PMID:29068549 |
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NCBI chr14:73,366,832...73,454,539
Ensembl chr14:73,367,963...73,454,516
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G |
Galnt3 |
polypeptide N-acetylgalactosaminyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268
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G |
Ift140 |
intraflagellar transport 140 |
|
ISS |
OMIM:208500 |
MouseDO |
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NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
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G |
Ift172 |
intraflagellar transport 172 |
|
ISO |
ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
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G |
Ift80 |
intraflagellar transport 80 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29068549 |
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NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
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G |
Lbr |
lamin B receptor |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28600779 PMID:29068549 |
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NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017
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G |
Nek1 |
NIMA-related kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 1 |
ClinVar |
PMID:25741868 |
|
NCBI chr16:28,998,229...29,125,426
Ensembl chr16:28,998,231...29,117,723
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G |
Rab34 |
RAB34, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:25741868 PMID:37619988 |
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NCBI chr10:63,083,319...63,087,538
Ensembl chr10:63,083,338...63,087,538
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G |
Scn1a |
sodium voltage-gated channel alpha subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699
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G |
Scn2a |
sodium voltage-gated channel alpha subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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|
NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214
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G |
Scn3a |
sodium voltage-gated channel alpha subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119
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Scn9a |
sodium voltage-gated channel alpha subunit 9 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:18327258 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:26068938 PMID:27491411 PMID:28492532 PMID:29068549 More...
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NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome | ClinVar Annotator: match by term: Infantile thoracic dystrophy |
CTD ClinVar |
PMID:9536098 PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 PMID:17576681 PMID:18327258 PMID:18414213 PMID:18930999 PMID:19304393 PMID:19400878 PMID:20358599 PMID:20522430 PMID:21068128 PMID:21258341 PMID:21719429 PMID:22495306 PMID:22773737 PMID:23020937 PMID:23559409 PMID:23662938 PMID:24650168 PMID:24876116 PMID:25492405 PMID:25741868 PMID:26068938 PMID:26940125 PMID:27491411 PMID:28492532 PMID:29068549 PMID:29127259 PMID:33532864 More...
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NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903
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Wdr19 |
WD repeat domain 19 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 PMID:27241786 PMID:28492532 PMID:28973083 PMID:29068549 PMID:31216405 More...
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NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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Wdr35 |
WD repeat domain 35 |
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ISO |
ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome |
ClinVar |
PMID:22486404 PMID:24033266 PMID:25741868 PMID:25914204 PMID:28332779 PMID:28492532 PMID:29068549 More...
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NCBI chr 6:31,771,315...31,831,450
Ensembl chr 6:31,771,360...31,831,029
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G |
Ift80 |
intraflagellar transport 80 |
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ISO ISS |
ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 2 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY OMIM:611263 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:16199547 PMID:17468754 PMID:17576681 PMID:19610081 PMID:19648123 PMID:20301500 PMID:21227999 PMID:23339108 PMID:25741868 PMID:28492532 PMID:29068549 PMID:30266093 PMID:30767363 More...
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NCBI chr 2:153,144,707...153,240,024
Ensembl chr 2:153,145,795...153,240,024
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