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G |
Cc2d2a |
coiled-coil and C2 domain containing 2A |
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ISO |
ClinVar Annotator: match by term: Ciliopathy |
ClinVar |
PMID:9536098 PMID:17576681 PMID:18950740 PMID:19777577 PMID:21068128 PMID:24706459 PMID:25741868 PMID:26092869 PMID:26729329 PMID:28492532 PMID:38259611 More...
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NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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G |
Cep83 |
centrosomal protein 83 |
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ISO |
ClinVar Annotator: match by term: Ciliopathy |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:29,280,358...29,389,574
Ensembl chr 7:29,280,419...29,389,574
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G |
Cibar1 |
CBY1 interacting BAR domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30395363 |
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NCBI chr 5:25,613,993...25,632,440
Ensembl chr 5:25,614,033...25,632,489
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G |
Dync2h1 |
dynein cytoplasmic 2 heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Ciliopathy |
ClinVar |
PMID:25741868 |
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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 |
Ift81 |
intraflagellar transport 81 |
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ISO |
ClinVar Annotator: match by term: Ciliopathy |
ClinVar |
PMID:26275418 PMID:28492532 |
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NCBI chr12:33,957,744...34,037,164
Ensembl chr12:33,957,806...34,037,057
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G |
Kif7 |
kinesin family member 7 |
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ISS |
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MouseDO |
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NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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G |
Nek4 |
NIMA-related kinase 4 |
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ISO |
ClinVar Annotator: match by term: Ciliopathy |
ClinVar |
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NCBI chr16:6,144,900...6,185,376
Ensembl chr16:6,144,959...6,188,932
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G |
Sclt1 |
sodium channel and clathrin linker 1 |
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ISS |
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MouseDO |
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NCBI chr 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065
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G |
Spry2 |
sprouty RTK signaling antagonist 2 |
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ISS |
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MouseDO |
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NCBI chr15:82,692,291...82,697,408
Ensembl chr15:82,692,143...82,698,009
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G |
Tbc1d32 |
TBC1 domain family, member 32 |
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ISO |
ClinVar Annotator: match by term: Ciliopathy |
ClinVar |
PMID:20159594 PMID:24285566 PMID:25741868 PMID:32060556 PMID:32573025 |
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NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
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G |
Tmem231 |
transmembrane protein 231 |
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ISO |
ClinVar Annotator: match by term: Ciliopathy |
ClinVar |
PMID:25741868 PMID:25869670 PMID:28492532 |
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NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269
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Tmem67 |
transmembrane protein 67 |
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ISO |
ClinVar Annotator: match by term: Ciliopathy |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28771248 |
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NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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G |
Wdr11 |
WD repeat domain 11 |
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ISS |
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MouseDO |
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NCBI chr 1:184,165,260...184,210,834
Ensembl chr 1:184,165,571...184,210,846
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G |
Wdr19 |
WD repeat domain 19 |
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ISO ISS |
DNA:missense mutation:cds:p.L750P (mouse) |
MouseDO RGD |
PMID:22228095 |
RGD:11552606 |
NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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G |
Alms1 |
ALMS1, centrosome and basal body associated protein |
susceptibility |
ISO ISS |
DNA:frameshift mutations, nonsense mutations ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome OMIM:203800 CTD Direct Evidence: marker/mechanism DNA:frameshift mutations, nonsense mutations, missense mutations:multiple DNA:nonsense mutations, frameshift mutation, missense mutation:multiple |
ClinVar MouseDO CTD OMIM RGD |
PMID:9063741 PMID:9409865 PMID:9536098 PMID:11941369 PMID:11941370 PMID:15689433 PMID:16199547 PMID:16720663 PMID:17576681 PMID:17594715 PMID:17850632 PMID:18038714 PMID:18154657 PMID:18195218 PMID:18414213 PMID:18654604 PMID:19283855 PMID:19763152 PMID:20307669 PMID:21128906 PMID:21157496 PMID:21158358 PMID:21541333 PMID:21877133 PMID:21897446 PMID:21901789 PMID:21943378 PMID:22406018 PMID:22447358 PMID:22498418 PMID:22533542 PMID:22555271 PMID:22773737 PMID:22876109 PMID:23033341 PMID:23188138 PMID:23661369 PMID:23847139 PMID:24033266 PMID:24049434 PMID:24257694 PMID:24400638 PMID:24462884 PMID:24503146 PMID:24534407 PMID:24595103 PMID:24690487 PMID:24830966 PMID:25268133 PMID:25296579 PMID:25468891 PMID:25469153 PMID:25533962 PMID:25640679 PMID:25706677 PMID:25741868 PMID:25846608 PMID:25864795 PMID:25999675 PMID:26010121 PMID:26047050 PMID:26066530 PMID:26077327 PMID:26082521 PMID:26104972 PMID:26111748 PMID:26239645 PMID:26283575 PMID:26285675 PMID:26467025 PMID:26496393 PMID:26566502 PMID:26633542 PMID:26636822 PMID:26704672 PMID:26992781 PMID:27178444 PMID:27375279 PMID:27486776 PMID:27523285 PMID:27665122 PMID:28112973 PMID:28145517 PMID:28402684 PMID:28432734 PMID:28456785 PMID:28492532 PMID:28502102 PMID:28518168 PMID:28573831 PMID:28717663 PMID:28724398 PMID:28912962 PMID:29079548 PMID:29193673 PMID:29302074 PMID:29345162 PMID:29588463 PMID:29590070 PMID:29610177 PMID:29681726 PMID:29715191 PMID:29718281 PMID:29961767 PMID:29970176 PMID:29976977 PMID:30029497 PMID:30054919 PMID:30064963 PMID:30311386 PMID:30421101 PMID:30488743 PMID:30513137 PMID:30532227 PMID:30600744 PMID:31106028 PMID:31308072 PMID:31456290 PMID:31607746 PMID:31624253 PMID:31630094 PMID:31638414 PMID:31755649 PMID:31810438 PMID:31898538 PMID:32037395 PMID:32349990 PMID:32396277 PMID:32451492 PMID:32461654 PMID:32483926 PMID:32503575 PMID:32531858 PMID:32531870 PMID:32581362 PMID:32682410 PMID:32746448 PMID:32856788 PMID:32867697 PMID:32944671 PMID:32945434 PMID:32973878 PMID:33179747 PMID:33502066 PMID:33669459 PMID:33782391 PMID:33924909 PMID:33981653 PMID:34147365 PMID:34148116 PMID:34148947 PMID:34547244 PMID:34716235 PMID:34906470 PMID:34935411 PMID:35211159 PMID:36109815 PMID:36162988 PMID:36178741 PMID:36252119 PMID:36413997 PMID:36460718 PMID:36685911 PMID:11941369 PMID:16720663 PMID:22876109 PMID:16000322 PMID:16513793 More...
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RGD:1601169, RGD:8696018, RGD:8696016, RGD:8696015, RGD:8696013 |
NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
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G |
Cct7 |
chaperonin containing TCP1 subunit 7 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,989,232...118,006,478
Ensembl chr 4:117,989,232...118,006,580
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 PMID:30250467 More...
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NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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G |
Egr4 |
early growth response 4 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:118,047,869...118,050,328
Ensembl chr 4:118,047,869...118,050,328
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G |
Emx1 |
empty spiracles homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,725,148...117,741,616
Ensembl chr 4:117,725,155...117,741,613
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G |
Fbxo41 |
F-box protein 41 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:118,007,517...118,039,547
Ensembl chr 4:118,010,978...118,039,406
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G |
Noto |
notochord homeobox |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,961,163...117,965,402
Ensembl chr 4:117,961,163...117,965,402
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G |
Pradc1 |
protease-associated domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,984,732...117,989,710
Ensembl chr 4:117,984,742...117,989,886
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G |
Rab11fip5 |
RAB11 family interacting protein 5 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,871,301...117,908,819
Ensembl chr 4:117,871,308...117,908,741
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G |
Sfxn5 |
sideroflexin 5 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,750,213...117,869,826
Ensembl chr 4:117,752,806...117,869,794
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G |
Smyd5 |
SMYD family member 5 |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,969,615...117,984,082
Ensembl chr 4:117,969,626...117,984,347
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G |
Spr |
sepiapterin reductase |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,671,948...117,676,292
Ensembl chr 4:117,671,949...117,675,678
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G |
Tango2 |
transport and golgi organization 2 homolog |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome ClinVar Annotator: match by term: Alstrom's syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30245509 PMID:31276219 More...
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NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
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G |
Abcb11 |
ATP binding cassette subfamily B member 11 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:54,016,854...54,112,797
Ensembl chr 3:54,017,127...54,112,730
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G |
Adgrg1 |
adhesion G protein-coupled receptor G1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,003,963...10,041,122
Ensembl chr19:10,003,975...10,041,108
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G |
Adgrg3 |
adhesion G protein-coupled receptor G3 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,972,425...10,001,118
Ensembl chr19:9,972,430...10,001,123
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G |
Adgrg5 |
adhesion G protein-coupled receptor G5 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,074,787...10,098,640
Ensembl chr19:10,079,375...10,097,214
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G |
Adpgk |
ADP-dependent glucokinase |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:59,699,400...59,727,352
Ensembl chr 8:59,699,388...59,727,351
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G |
Akt3 |
AKT serine/threonine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
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NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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G |
Alms1 |
ALMS1, centrosome and basal body associated protein |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:15689433 PMID:17594715 PMID:24400638 PMID:25741868 PMID:28492532 |
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NCBI chr 4:118,125,581...118,226,005
Ensembl chr 4:118,125,607...118,226,005
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G |
Amfr |
autocrine motility factor receptor |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,996,705...11,032,260
Ensembl chr19:10,996,099...11,032,247
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G |
Ap5b1 |
adaptor related protein complex 5 subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,876,272...202,880,303
Ensembl chr 1:202,876,272...202,880,289
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G |
Arid3b |
AT-rich interaction domain 3B |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:58,193,268...58,240,901
Ensembl chr 8:58,193,418...58,238,318
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G |
Arl2 |
ADP-ribosylation factor like GTPase 2 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:203,434,129...203,446,156
Ensembl chr 1:203,434,129...203,446,119
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G |
Arl2bp |
ADP-ribosylation factor like GTPase 2 binding protein |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,336,921...10,346,555
Ensembl chr19:10,336,921...10,346,564
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G |
Arl6 |
ADP-ribosylation factor like GTPase 6 |
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ISO |
DNA:missense mutations:multiple (human) ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar RGD |
PMID:15258860 PMID:19858128 PMID:20142850 PMID:22334370 PMID:22773737 PMID:24400638 PMID:25741868 PMID:26355662 PMID:27124789 PMID:27486776 PMID:28005406 PMID:28130426 PMID:28492532 PMID:29806606 PMID:31456290 PMID:31736247 PMID:32531858 PMID:32906206 PMID:33090715 PMID:35457050 PMID:35886001 PMID:15314642 More...
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RGD:1578724 |
NCBI chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937
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G |
Arl6ip6 |
ADP ribosylation factor like GTPase 6 interacting protein 6 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr 3:37,689,994...37,720,358
Ensembl chr 3:37,690,382...37,718,018
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G |
Astn2 |
astrotactin 2 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 PMID:16606853 PMID:17994549 PMID:19349376 PMID:19492423 PMID:21775502 PMID:22025579 PMID:22626039 PMID:22981120 PMID:23142638 PMID:23541687 PMID:24033266 PMID:25351777 PMID:25741868 PMID:26467025 PMID:27491411 PMID:28492532 PMID:28812413 PMID:29921608 PMID:30564623 PMID:30823891 PMID:31624253 PMID:32419263 PMID:32528171 PMID:33296226 PMID:35055178 More...
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NCBI chr 5:78,758,142...79,744,021
Ensembl chr 5:78,758,142...79,748,273
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G |
Atg2a |
autophagy related 2A |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:203,542,559...203,562,242
Ensembl chr 1:203,542,559...203,562,242
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G |
B4gat1 |
beta-1,4-glucuronyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,343,268...202,345,490
Ensembl chr 1:202,343,240...202,346,065
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G |
Banf1 |
BAF nuclear assembly factor 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,672,170...202,674,215
Ensembl chr 1:202,671,305...202,674,188
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G |
Batf2 |
basic leucine zipper ATF-like transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:203,467,291...203,479,428
Ensembl chr 1:203,468,097...203,475,889
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G |
Bbs1 |
Bardet-Biedl syndrome 1 |
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ISO |
DNA:mutations: :multiple (human) ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar RGD |
PMID:8316268 PMID:9536098 PMID:10564830 PMID:12118255 PMID:12524598 PMID:12567324 PMID:12677556 PMID:12837689 PMID:12872256 PMID:12920096 PMID:15314642 PMID:15666242 PMID:15770229 PMID:16199547 PMID:16327777 PMID:16786513 PMID:16877420 PMID:17003356 PMID:17065520 PMID:17576681 PMID:17980398 PMID:18032602 PMID:18327255 PMID:18669544 PMID:18766993 PMID:19763152 PMID:19797195 PMID:19858128 PMID:20120035 PMID:20177705 PMID:20301537 PMID:20307669 PMID:20472660 PMID:20498079 PMID:20876674 PMID:21052717 PMID:21209035 PMID:21258341 PMID:21344540 PMID:21517826 PMID:21520335 PMID:21642631 PMID:22406018 PMID:22410627 PMID:22581970 PMID:22773737 PMID:22940089 PMID:22998390 PMID:23143442 PMID:23432027 PMID:23559858 PMID:23565731 PMID:23847139 PMID:23943788 PMID:24033266 PMID:24400638 PMID:24611592 PMID:24746959 PMID:25074776 PMID:25170860 PMID:25326635 PMID:25640679 PMID:25741868 PMID:25780760 PMID:25982971 PMID:25988237 PMID:26082521 PMID:26261414 PMID:26467025 PMID:26518167 PMID:26872967 PMID:27032803 PMID:27434533 PMID:27486776 PMID:27624628 PMID:27659767 PMID:27788217 PMID:27884173 PMID:27894351 PMID:28041643 PMID:28143435 PMID:28224992 PMID:28341476 PMID:28492532 PMID:28559085 PMID:28991257 PMID:29099798 PMID:29191167 PMID:29264490 PMID:29588463 PMID:30076350 PMID:30259503 PMID:30614526 PMID:30718709 PMID:31130284 PMID:31196119 PMID:31328266 PMID:31506453 PMID:31534736 PMID:31836858 PMID:31964843 PMID:31997113 PMID:32037395 PMID:32165824 PMID:32349990 PMID:32451492 PMID:32531858 PMID:32552793 PMID:32949114 PMID:33169370 PMID:33532864 PMID:33594065 PMID:34526762 PMID:34906470 PMID:34940782 PMID:35692835 PMID:35835773 PMID:35886001 PMID:36460718 PMID:36819107 PMID:36909829 PMID:12524598 More...
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RGD:1579969 |
NCBI chr 1:202,184,812...202,204,118
Ensembl chr 1:202,186,125...202,204,086
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G |
Bbs10 |
Bardet-Biedl syndrome 10 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar RGD |
PMID:2748677 PMID:5982971 PMID:9536098 PMID:16582908 PMID:16823392 PMID:17106446 PMID:17576681 PMID:17980398 PMID:19190184 PMID:19797195 PMID:20080638 PMID:20120035 PMID:20177705 PMID:20472660 PMID:20498079 PMID:20805367 PMID:20876674 PMID:21044901 PMID:21052717 PMID:21157496 PMID:21209035 PMID:21344540 PMID:21517826 PMID:21642631 PMID:22353939 PMID:22410627 PMID:22773737 PMID:22958920 PMID:22995991 PMID:23591405 PMID:24033266 PMID:24041679 PMID:24400638 PMID:24488770 PMID:24611592 PMID:24746959 PMID:25133751 PMID:25170860 PMID:25326635 PMID:25366773 PMID:25412400 PMID:25439097 PMID:25741868 PMID:25966130 PMID:25982971 PMID:26003401 PMID:26273430 PMID:26355662 PMID:26467025 PMID:26518167 PMID:27032803 PMID:27245532 PMID:27385962 PMID:27449316 PMID:27486776 PMID:27533158 PMID:27659767 PMID:27788217 PMID:27959697 PMID:28041643 PMID:28143435 PMID:28492532 PMID:28808579 PMID:28991257 PMID:29261186 PMID:29666954 PMID:29806606 PMID:29947050 PMID:30335236 PMID:30614526 PMID:30718709 PMID:31196119 PMID:31639430 PMID:32361989 PMID:32448990 PMID:32531858 PMID:33964006 PMID:34940782 PMID:35112343 PMID:36312387 PMID:24746959 More...
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RGD:11352646 |
NCBI chr 7:46,751,028...46,754,132
Ensembl chr 7:46,750,993...46,754,141
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Bbs12 |
Bardet-Biedl syndrome 12 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:17160889 PMID:19797195 PMID:20080638 PMID:20120035 PMID:20142850 PMID:20472660 PMID:20498079 PMID:20648243 PMID:20827784 PMID:21209035 PMID:21344540 PMID:21463199 PMID:21642631 PMID:22025579 PMID:22410627 PMID:22773737 PMID:23591405 PMID:24416769 PMID:24611592 PMID:25133751 PMID:25170860 PMID:25741868 PMID:25780760 PMID:25982971 PMID:26082521 PMID:26489029 PMID:27004616 PMID:27659767 PMID:27708425 PMID:28224992 PMID:28492532 PMID:28912962 PMID:30614526 PMID:30718709 PMID:31196119 PMID:31888296 PMID:31964843 PMID:32448990 PMID:32531858 PMID:33046855 PMID:33532864 PMID:33964006 PMID:35912300 More...
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NCBI chr 2:120,203,396...120,221,024
Ensembl chr 2:120,203,428...120,219,255
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G |
Bbs2 |
Bardet-Biedl syndrome 2 |
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ISO |
DNA:missense, deletion, nonsense mutations:cds: ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar RGD |
PMID:8298649 PMID:9536098 PMID:11285252 PMID:11567139 PMID:11886943 PMID:12016587 PMID:12524598 PMID:12677556 PMID:12837689 PMID:12920096 PMID:14520415 PMID:15666242 PMID:15770229 PMID:16199547 PMID:16877420 PMID:16909204 PMID:17576681 PMID:19402160 PMID:19763152 PMID:19797195 PMID:20120035 PMID:20177705 PMID:20307669 PMID:20498079 PMID:20618352 PMID:21044901 PMID:21052717 PMID:21157496 PMID:21344540 PMID:21463199 PMID:21642631 PMID:22025579 PMID:22353939 PMID:22401627 PMID:22406018 PMID:22410627 PMID:22773737 PMID:22981120 PMID:23432027 PMID:23829372 PMID:24033266 PMID:24154662 PMID:24280758 PMID:24349080 PMID:24608809 PMID:24793135 PMID:24849935 PMID:25133751 PMID:25170860 PMID:25412400 PMID:25525159 PMID:25533962 PMID:25541840 PMID:25611614 PMID:25741868 PMID:25988237 PMID:25999675 PMID:26078953 PMID:26325687 PMID:26355662 PMID:26467025 PMID:26518167 PMID:27032803 PMID:27058611 PMID:27353947 PMID:27659767 PMID:27708425 PMID:27894351 PMID:28005958 PMID:28143435 PMID:28374938 PMID:28387813 PMID:28418496 PMID:28492532 PMID:28559085 PMID:28717663 PMID:28747448 PMID:28800606 PMID:29095814 PMID:29588463 PMID:30029678 PMID:30293640 PMID:30614526 PMID:30718709 PMID:30866059 PMID:30902645 PMID:31054281 PMID:31196119 PMID:31283077 PMID:31429209 PMID:31456290 PMID:31530639 PMID:31630094 PMID:31877679 PMID:31960602 PMID:31980526 PMID:32037395 PMID:32349990 PMID:32436246 PMID:32531870 PMID:33138063 PMID:33226606 PMID:33520300 PMID:33777945 PMID:33781268 PMID:33921607 PMID:34008892 PMID:34906470 PMID:35112343 PMID:35886001 PMID:11285252 More...
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RGD:70665 |
NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
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Bbs4 |
Bardet-Biedl syndrome 4 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:388431 PMID:7711739 PMID:9536098 PMID:11381270 PMID:12016587 PMID:12524598 PMID:12872256 PMID:15654695 PMID:15666242 PMID:15770229 PMID:16199547 PMID:17558852 PMID:17576681 PMID:19402160 PMID:19797195 PMID:19858128 PMID:20177705 PMID:20498079 PMID:21344540 PMID:22219648 PMID:22353939 PMID:23432027 PMID:23591405 PMID:24849935 PMID:25741868 PMID:27208204 PMID:27486776 PMID:27894351 PMID:28492532 PMID:29039417 PMID:30614526 PMID:30718709 PMID:31964843 PMID:31980526 PMID:32531858 PMID:33777945 PMID:34906470 PMID:35456422 PMID:35886001 More...
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NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607
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Bbs5 |
Bardet-Biedl syndrome 5 |
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ISO |
DNA:insertion/deletion, nonsense mutation: :263_271delinsGCTCTTA, p.W59X (human) ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar RGD |
PMID:9536098 PMID:15137946 PMID:16199547 PMID:16877420 PMID:17576681 PMID:18203199 PMID:19367329 PMID:19797195 PMID:20498079 PMID:21052717 PMID:21209035 PMID:21344540 PMID:22626039 PMID:22773737 PMID:24400638 PMID:24559376 PMID:25741868 PMID:25982971 PMID:26325687 PMID:26355662 PMID:26766544 PMID:27708425 PMID:28041643 PMID:28492532 PMID:29806606 PMID:30029678 PMID:30614526 PMID:30718709 PMID:31506453 PMID:31760295 PMID:32451492 PMID:32641690 PMID:32811249 PMID:33572860 PMID:37240074 PMID:37431782 PMID:15137946 More...
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RGD:1579974 |
NCBI chr 3:54,410,429...54,431,831
Ensembl chr 3:54,410,775...54,431,829
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G |
Bbs7 |
Bardet-Biedl syndrome 7 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar RGD |
PMID:9536098 PMID:12567324 PMID:16199547 PMID:16308660 PMID:17576681 PMID:19402160 PMID:19666486 PMID:19797195 PMID:20498079 PMID:21052717 PMID:21209035 PMID:21344540 PMID:21642631 PMID:21937992 PMID:22302990 PMID:22500027 PMID:23462753 PMID:23572516 PMID:23847139 PMID:25553308 PMID:25741868 PMID:26003401 PMID:26325687 PMID:26518167 PMID:27486776 PMID:28492532 PMID:28761321 PMID:29970488 PMID:30029678 PMID:30614526 PMID:30718709 PMID:31196119 PMID:31469663 PMID:31521835 PMID:31530639 PMID:32448990 PMID:32531858 PMID:32686083 PMID:33777945 PMID:34526762 PMID:12567324 More...
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RGD:1579975 |
NCBI chr 2:119,434,760...119,474,665
Ensembl chr 2:119,434,760...119,474,396
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G |
Bbs9 |
Bardet-Biedl syndrome 9 |
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ISO |
DNA:mutations:multiple: ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar RGD |
PMID:9536098 PMID:16199547 PMID:16380913 PMID:17576681 PMID:20177705 PMID:21209035 PMID:23160099 PMID:23757202 PMID:24746959 PMID:24849935 PMID:25640679 PMID:25741868 PMID:26355662 PMID:26766544 PMID:27708425 PMID:27894351 PMID:28492532 PMID:29096039 PMID:29970488 PMID:30614526 PMID:30718709 PMID:31054281 PMID:31456290 PMID:31488071 PMID:31736247 PMID:31888296 PMID:32165602 PMID:32552793 PMID:32686083 PMID:33138063 PMID:33616283 PMID:33777945 PMID:33964006 PMID:16380913 More...
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RGD:9684996 |
NCBI chr 8:21,013,865...21,437,934
Ensembl chr 8:21,013,944...21,437,930
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G |
Bles03 |
basophilic leukemia expressed protein BLES03 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,734,555...202,736,809
Ensembl chr 1:202,734,555...202,736,804
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G |
Brms1 |
BRMS1, transcriptional repressor and anoikis regulator |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,345,766...202,355,028
Ensembl chr 1:202,345,704...202,355,028
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G |
Capn1 |
calpain 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177
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G |
Catsper1 |
cation channel, sperm associated 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,643,009...202,652,059
Ensembl chr 1:202,643,038...202,651,824
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G |
Ccdc102a |
coiled-coil domain containing 102A |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,102,543...10,118,657
Ensembl chr19:10,103,361...10,118,657
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Ccdc113 |
coiled-coil domain containing 113 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,497,000...9,516,917
Ensembl chr19:9,496,886...9,516,923
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G |
Ccdc28b |
coiled coil domain containing 28B |
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ISO |
DNA:mutation:exon:430C>T(human) ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar RGD |
PMID:12677556 PMID:16327777 PMID:29127258 PMID:16327777 |
RGD:9685059 |
NCBI chr 5:141,962,275...141,967,278
Ensembl chr 5:141,962,276...141,967,382
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G |
Ccdc33 |
coiled-coil domain containing 33 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:58,434,798...58,534,338
Ensembl chr 8:58,435,661...58,534,370
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G |
Ccdc85b |
coiled-coil domain containing 85B |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,763,645...202,764,660
Ensembl chr 1:202,763,631...202,764,703
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G |
Ccl17 |
C-C motif chemokine ligand 17 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,202,128...10,203,903
Ensembl chr19:10,202,128...10,203,819
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G |
Ccl22 |
C-C motif chemokine ligand 22 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,257,602...10,264,373
Ensembl chr19:10,257,601...10,264,400
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G |
Cd248 |
CD248 molecule |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,373,676...202,376,240
Ensembl chr 1:202,373,676...202,376,240
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G |
Cd276 |
Cd276 molecule |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:58,937,751...58,968,082
Ensembl chr 8:58,937,751...58,968,380
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G |
Cdc42bpg |
CDC42 binding protein kinase gamma |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:203,608,339...203,628,502
Ensembl chr 1:203,608,574...203,628,502
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G |
Cdc42ep2 |
CDC42 effector protein 2 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:203,202,000...203,210,891
Ensembl chr 1:203,201,873...203,210,897
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G |
Cdca5 |
cell division cycle associated 5 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:203,378,550...203,392,027
Ensembl chr 1:203,378,577...203,392,023
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G |
Cep19 |
centrosomal protein 19 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:29127258 |
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NCBI chr11:68,677,869...68,687,117
Ensembl chr11:68,677,871...68,687,022
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Cep290 |
centrosomal protein 290 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bardet-Biedl syndrome |
CTD ClinVar |
PMID:18327255 PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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G |
Cfap20 |
cilia and flagella associated protein 20 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,608,867...9,622,558
Ensembl chr19:9,608,859...9,622,558
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G |
Cfl1 |
cofilin 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587
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G |
Ciapin1 |
cytokine induced apoptosis inhibitor 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,179,963...10,195,511
Ensembl chr19:10,180,100...10,195,503
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G |
Clk3 |
CDC-like kinase 3 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:58,152,155...58,167,196
Ensembl chr 8:58,152,155...58,168,181
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G |
Cngb1 |
cyclic nucleotide gated channel subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,726,595...9,791,111
Ensembl chr19:9,726,595...9,791,173
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G |
Cnih2 |
cornichon family AMPA receptor auxiliary protein 2 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,399,416...202,405,110
Ensembl chr 1:202,399,419...202,405,089
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G |
Cnot1 |
CCR4-NOT transcription complex, subunit 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,255,190...9,346,574
Ensembl chr19:9,255,194...9,346,574
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G |
Comt |
catechol-O-methyltransferase |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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G |
Coq9 |
coenzyme Q9 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,166,948...10,179,976
Ensembl chr19:10,166,951...10,179,949
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G |
Cplx3 |
complexin 3 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:58,003,535...58,010,297
Ensembl chr 8:58,003,535...58,010,297
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G |
Cpne2 |
copine 2 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,434,277...10,472,146
Ensembl chr19:10,434,277...10,471,820
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G |
Csk |
C-terminal Src kinase |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:58,029,748...58,048,742
Ensembl chr 8:58,029,749...58,048,292
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G |
Csnk2a2 |
casein kinase 2 alpha 2 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,556,443...9,596,080
Ensembl chr19:9,556,260...9,596,080
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G |
Cst6 |
cystatin E/M |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030
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G |
Ctsw |
cathepsin W |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,772,395...202,777,021
Ensembl chr 1:202,772,572...202,775,964
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G |
Cx3cl1 |
C-X3-C motif chemokine ligand 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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G |
Cyp11a1 |
cytochrome P450, family 11, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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G |
Cyp1a2 |
cytochrome P450, family 1, subfamily a, polypeptide 2 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
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G |
Dhrs9 |
dehydrogenase/reductase 9 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:54,147,834...54,170,052
Ensembl chr 3:54,147,803...54,220,241
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G |
Dok4 |
docking protein 4 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,146,520...10,157,187
Ensembl chr19:10,146,474...10,158,203
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G |
Dpf2 |
double PHD fingers 2 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983
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G |
Dpp3 |
dipeptidylpeptidase 3 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,204,683...202,228,501
Ensembl chr 1:202,204,693...202,228,541
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G |
Drap1 |
Dr1 associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,731,775...202,734,468
Ensembl chr 1:202,731,788...202,734,425
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G |
Drc7 |
dynein regulatory complex subunit 7 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,943,452...9,961,266
Ensembl chr19:9,943,456...9,961,163
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G |
Edc3 |
enhancer of mRNA decapping 3 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:58,106,147...58,151,685
Ensembl chr 8:58,106,175...58,151,671
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G |
Efemp2 |
EGF containing fibulin extracellular matrix protein 2 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414
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G |
Ehbp1 |
EH domain binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr14:96,093,327...96,380,502
Ensembl chr14:96,093,327...96,345,332
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G |
Ehbp1l1 |
EH domain binding protein 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,994,115...203,014,320
Ensembl chr 1:202,994,118...203,014,270
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G |
Ehd1 |
EH-domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:203,579,850...203,602,226
Ensembl chr 1:203,579,869...203,602,212
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G |
Eif1ad |
eukaryotic translation initiation factor 1A domain containing |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,674,362...202,679,662
Ensembl chr 1:202,674,185...202,679,658
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G |
Eml5 |
EMAP like 5 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 6:118,046,655...118,175,831
Ensembl chr 6:118,046,655...118,175,831
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G |
Fam89b |
family with sequence similarity 89, member B |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:203,015,772...203,017,890
Ensembl chr 1:203,015,773...203,017,367
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G |
Fau |
FAU ubiquitin like and ribosomal protein S30 fusion |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:203,350,226...203,351,741
Ensembl chr 1:203,350,189...203,351,742
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G |
Fibp |
FGF1 intracellular binding protein |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,768,065...202,772,405
Ensembl chr 1:202,768,078...202,772,399
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G |
Fosl1 |
FOS like 1, AP-1 transcription factor subunit |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930
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G |
Frmd8 |
FERM domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:203,143,216...203,163,868
Ensembl chr 1:203,143,218...203,163,870
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G |
Gal3st3 |
galactose-3-O-sulfotransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,593,635...202,603,446
Ensembl chr 1:202,593,692...202,603,445
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G |
Gins3 |
GINS complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,420,085...9,428,621
Ensembl chr19:9,420,086...9,428,687
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G |
Gli1 |
GLI family zinc finger 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:29127258 |
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NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
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G |
Gli2 |
GLI family zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:25741868 PMID:26893459 PMID:28492532 |
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NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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G |
Gnao1 |
G protein subunit alpha o1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr19:11,034,874...11,192,531
Ensembl chr19:11,035,956...11,192,493
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G |
Got2 |
glutamic-oxaloacetic transaminase 2 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,174,304...9,199,995
Ensembl chr19:9,174,311...9,199,994
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G |
Gpha2 |
glycoprotein hormone subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:203,525,952...203,527,271
Ensembl chr 1:203,526,122...203,527,270
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G |
Hcn4 |
hyperpolarization activated cyclic nucleotide-gated potassium channel 4 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639
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G |
Herpud1 |
homocysteine inducible ER protein with ubiquitin like domain 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,598,411...10,609,002
Ensembl chr19:10,598,417...10,618,424
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G |
Htr2b |
5-hydroxytryptamine receptor 2B |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:29127258 |
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NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108
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G |
Ift172 |
intraflagellar transport 172 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:24033266 PMID:24140113 PMID:25168386 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 |
Ift27 |
intraflagellar transport 27 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29704304 PMID:30761183 |
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NCBI chr 7:109,738,622...109,754,416
Ensembl chr 7:109,738,622...109,754,416
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G |
Insyn1 |
inhibitory synaptic factor 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,904,153...58,914,850
Ensembl chr 8:58,904,153...58,914,843
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G |
Iqcb1 |
IQ motif containing B1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
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G |
Islr |
immunoglobulin superfamily containing leucine-rich repeat |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:58,571,155...58,574,128
Ensembl chr 8:58,570,777...58,574,130
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G |
Islr2 |
immunoglobulin superfamily containing leucine-rich repeat 2 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,608,165...58,616,246
Ensembl chr 8:58,608,709...58,614,650
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G |
Jag1 |
jagged canonical Notch ligand 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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G |
Kat5 |
lysine acetyltransferase 5 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458
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G |
Katnb1 |
katanin regulatory subunit B1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,921,216...9,940,853
Ensembl chr19:9,921,219...9,940,650
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G |
Kcnk7 |
potassium two pore domain channel subfamily K member 7 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,988,801...202,992,842
Ensembl chr 1:202,990,198...202,992,872
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G |
Kifc3 |
kinesin family member C3 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,825,114...9,920,371
Ensembl chr19:9,886,693...9,920,451
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G |
Klc2 |
kinesin light chain 2 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,414,555...202,424,787
Ensembl chr 1:202,414,557...202,424,672
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G |
Klhl41 |
kelch-like family member 41 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:54,434,291...54,447,415
Ensembl chr 3:54,434,234...54,449,222
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G |
Lman1l |
lectin, mannose-binding, 1 like |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:58,010,839...58,029,599
Ensembl chr 8:58,010,839...58,023,681
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G |
Loxl1 |
lysyl oxidase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,691,763...58,716,365
Ensembl chr 8:58,692,593...58,716,356
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G |
Lrp2 |
LDL receptor related protein 2 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
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G |
Ltbp3 |
latent transforming growth factor beta binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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G |
Lztfl1 |
leucine zipper transcription factor-like 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
|
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NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192
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G |
Majin |
membrane anchored junction protein |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:203,487,777...203,524,098
Ensembl chr 1:203,488,069...203,524,092
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G |
Map3k11 |
mitogen-activated protein kinase kinase kinase 11 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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|
NCBI chr 1:202,975,353...202,988,655
Ensembl chr 1:202,975,353...202,988,652
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G |
Map4k2 |
mitogen activated protein kinase kinase kinase kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:203,645,098...203,660,782
Ensembl chr 1:203,645,153...203,660,331
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G |
Mdh1 |
malate dehydrogenase 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr14:95,630,625...95,645,920
Ensembl chr14:95,630,306...95,645,925
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G |
Men1 |
menin 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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G |
Mir138-2 |
microRNA 138-2 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr19:10,674,193...10,674,274
Ensembl chr19:10,674,193...10,674,274
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G |
Mir192 |
microRNA 192 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
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G |
Mir194-2 |
microRNA 194-2 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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|
NCBI chr 1:203,564,761...203,564,845
Ensembl chr 1:203,564,761...203,564,845
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G |
Mkks |
MKKS centrosomal shuttling protein |
|
ISO |
Bardet-Biedl syndrome 6 (BBS6) ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar RGD |
PMID:2896767 PMID:9536098 PMID:10802661 PMID:10973238 PMID:10973251 PMID:11179009 PMID:11567139 PMID:12107442 PMID:12920096 PMID:15483080 PMID:15637713 PMID:15666242 PMID:15731008 PMID:15770229 PMID:16104012 PMID:17576681 PMID:18094050 PMID:19763152 PMID:20080638 PMID:20142850 PMID:20177705 PMID:20226561 PMID:20307669 PMID:20472660 PMID:20498079 PMID:20502701 PMID:21157496 PMID:21209035 PMID:22353939 PMID:22406018 PMID:22446187 PMID:22500027 PMID:22773737 PMID:24400638 PMID:25741868 PMID:25982971 PMID:26355662 PMID:26900326 PMID:27491411 PMID:28492532 PMID:28624958 PMID:28753627 PMID:28761321 PMID:29127258 PMID:29588463 PMID:30504698 PMID:30586318 PMID:30614526 PMID:30718709 PMID:31028937 PMID:31054281 PMID:33138063 PMID:33520300 PMID:34448047 PMID:35112343 PMID:35835773 PMID:15483080 PMID:10973251 More...
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RGD:1601414, RGD:1581208 |
NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
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G |
Mks1 |
MKS transition zone complex subunit 1 |
|
ISO |
DNA:missense mutations: :p.D286G, p.I450T, p.C492W (human) ClinVar Annotator: match by term: Bardet-Biedl syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:18327255 PMID:25741868 PMID:28492532 PMID:31456290 PMID:18327255 |
RGD:11070512 |
NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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G |
Mmp15 |
matrix metallopeptidase 15 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
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NCBI chr19:9,663,449...9,684,943
Ensembl chr19:9,663,449...9,684,943
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G |
Mpi |
mannose phosphate isomerase |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:57,947,883...57,956,205
Ensembl chr 8:57,947,893...57,956,150
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G |
mrpl11 |
mitochondrial ribosomal protein L11 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
|
|
NCBI chr 1:202,264,419...202,267,288
Ensembl chr 1:202,264,471...202,267,756
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G |
Mrpl49 |
mitochondrial ribosomal protein L49 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
|
|
NCBI chr 1:203,346,068...203,350,040
Ensembl chr 1:203,332,481...203,350,049
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G |
Mt1 |
metallothionein 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...10,827,049 Ensembl chr17:10,826,032...10,827,049
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G |
Mt1-ps3 |
metallothionein 1, pseudogene 3 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr17:74,786,652...74,787,040
Ensembl chr17:74,786,654...74,787,135
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G |
Mt2A |
metallothionein 2A |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:10,832,009...10,832,783
Ensembl chr19:10,832,002...10,832,784
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|
G |
Mt3 |
metallothionein 3 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr19:10,848,754...10,850,158
Ensembl chr19:10,848,755...10,850,158
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G |
Mt4 |
metallothionein 4 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:10,863,813...10,865,909
Ensembl chr19:10,863,813...10,865,909
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G |
Mus81 |
MUS81 structure-specific endonuclease subunit |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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|
NCBI chr 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843
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G |
Naaladl1 |
N-acetylated alpha-linked acidic dipeptidase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
|
|
NCBI chr 1:203,400,632...203,414,195
Ensembl chr 1:203,400,631...203,414,195
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G |
Ndrg4 |
NDRG family member 4 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:9,351,408...9,387,398
Ensembl chr19:9,351,404...9,386,914
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G |
Neo1 |
neogenin 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:59,273,860...59,426,486
Ensembl chr 8:59,275,569...59,430,348
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G |
Nlrc5 |
NLR family, CARD domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:10,477,638...10,581,023
Ensembl chr19:10,477,628...10,562,121
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G |
Npas4 |
neuronal PAS domain protein 4 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
|
|
NCBI chr 1:202,281,260...202,298,681
Ensembl chr 1:202,281,958...202,286,724
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G |
Nphp1 |
nephrocystin 1 |
|
ISO |
|
RGD |
PMID:24746959 |
RGD:11352646 |
NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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G |
Nphp3 |
nephrocystin 3 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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|
G |
Nphp4 |
nephrocystin 4 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:15776426 PMID:25741868 PMID:28492532 |
|
NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
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|
G |
Nptn |
neuroplastin |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,996,873...59,063,402
Ensembl chr 8:58,996,887...59,063,401
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|
G |
Nt5c3a |
5'-nucleotidase, cytosolic IIIA |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:16380913 PMID:20177705 PMID:28492532 |
|
NCBI chr 4:86,161,642...86,204,656
Ensembl chr 4:86,161,643...86,204,628
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|
G |
Nudt21 |
nudix hydrolase 21 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr19:10,974,800...10,993,841
Ensembl chr19:10,974,241...10,991,682
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G |
Nup93 |
nucleoporin 93 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026
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G |
Ogfod1 |
2-oxoglutarate and iron-dependent oxygenase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr19:10,945,031...10,974,602
Ensembl chr19:10,946,018...10,975,119
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G |
Osbpl8 |
oxysterol binding protein-like 8 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:20472660 PMID:22773737 PMID:25741868 PMID:25982971 PMID:27486776 PMID:28492532 More...
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|
NCBI chr 7:46,596,944...46,749,888
Ensembl chr 7:46,596,983...46,749,888
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|
G |
Otx1 |
orthodenticle homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr14:96,082,146...96,089,161
Ensembl chr14:96,082,151...96,089,086
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|
G |
Ovol1 |
ovo like transcriptional repressor 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
|
|
NCBI chr 1:202,855,261...202,868,858
Ensembl chr 1:202,855,265...202,866,831
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|
G |
Pacs1 |
phosphofurin acidic cluster sorting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
|
|
NCBI chr 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473
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|
G |
Pcnx3 |
pecanex 3 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
|
|
NCBI chr 1:202,951,322...202,974,167
Ensembl chr 1:202,951,322...202,976,561
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G |
Peli1 |
pellino E3 ubiquitin protein ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr14:95,254,274...95,309,168
Ensembl chr14:95,254,589...95,308,285
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|
G |
Peli3 |
pellino E3 ubiquitin protein ligase family member 3 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
|
|
NCBI chr 1:202,230,034...202,242,900
Ensembl chr 1:202,232,228...202,242,857
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|
G |
Phldb1 |
pleckstrin homology-like domain, family B, member 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 8:45,003,543...45,051,541
Ensembl chr 8:45,003,538...45,051,522
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G |
Pllp |
plasmolipin |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr19:10,315,104...10,335,892
Ensembl chr19:10,315,104...10,335,892
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G |
Pml |
PML nuclear body scaffold |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971
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|
G |
Pola2 |
DNA polymerase alpha 2, accessory subunit |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
|
|
NCBI chr 1:203,227,183...203,251,350
Ensembl chr 1:203,203,388...203,251,348
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|
G |
Polr2c |
RNA polymerase II subunit C |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr19:10,158,153...10,164,935
Ensembl chr19:10,157,823...10,164,945
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G |
Ppp2r5b |
protein phosphatase 2, regulatory subunit B', beta |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
|
|
NCBI chr 1:203,527,268...203,535,442
Ensembl chr 1:203,527,270...203,535,416
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|
G |
Prss54 |
serine protease 54 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr19:9,479,995...9,496,838
Ensembl chr19:9,479,995...9,496,835
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|
G |
Psmd1 |
proteasome 26S subunit, non-ATPase 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:29127258 |
|
NCBI chr 9:86,709,714...86,785,213
Ensembl chr 9:86,709,947...86,785,211
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|
G |
Psme3ip1 |
proteasome activator subunit 3 interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr19:10,401,400...10,430,059
Ensembl chr19:10,401,532...10,429,987
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|
G |
Ptpn21 |
protein tyrosine phosphatase, non-receptor type 21 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:117,933,066...117,998,095
Ensembl chr 6:117,933,066...117,998,095
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|
G |
Pygm |
glycogen phosphorylase, muscle associated |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
|
|
NCBI chr 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368
|
|
G |
Rab1b |
RAB1B, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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|
NCBI chr 1:202,405,759...202,413,850
Ensembl chr 1:202,405,759...202,413,868 Ensembl chr X:202,405,759...202,413,868
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G |
Rec114 |
REC114 meiotic recombination protein |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:59,063,352...59,221,439
Ensembl chr 8:59,063,352...59,149,887
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G |
Rela |
RELA proto-oncogene, NF-kB subunit |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
|
|
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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G |
Rin1 |
Ras and Rab interactor 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
|
|
NCBI chr 1:202,355,729...202,362,731
Ensembl chr 1:202,355,890...202,362,729
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G |
Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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G |
Rnaseh2c |
ribonuclease H2, subunit C |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
|
|
NCBI chr 1:202,894,626...202,895,675
Ensembl chr 1:202,894,643...202,897,516
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|
G |
Rp9 |
RP9, pre-mRNA splicing factor |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:16380913 PMID:20177705 PMID:28492532 |
|
NCBI chr 8:20,955,447...21,005,225
Ensembl chr 8:20,941,362...21,005,175
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G |
Rpgrip1 |
RPGR interacting protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:25741868 |
|
NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
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G |
Rpgrip1l |
Rpgrip1-like |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
|
|
NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
|
|
G |
Rspry1 |
ring finger and SPRY domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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|
NCBI chr19:10,352,449...10,403,015
Ensembl chr19:10,353,821...10,401,102
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|
G |
Sac3d1 |
SAC3 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
|
|
NCBI chr 1:203,414,184...203,416,563
Ensembl chr 1:203,414,187...203,416,604
|
|
G |
Sart1 |
spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
|
|
NCBI chr 1:202,690,472...202,699,136
Ensembl chr 1:202,690,459...202,699,136
|
|
G |
Scamp2 |
secretory carrier membrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:57,965,612...57,992,248
Ensembl chr 8:57,965,631...57,992,646
|
|
G |
Scyl1 |
SCY1 like pseudokinase 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
|
|
NCBI chr 1:203,045,776...203,059,550
Ensembl chr 1:203,045,741...203,059,533
|
|
G |
Sdccag8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:16199547 PMID:20835237 PMID:21866095 PMID:22190896 PMID:23559409 PMID:25741868 PMID:28492532 PMID:31844813 More...
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|
NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
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G |
Sema7a |
semaphorin 7A (John Milton Hagen blood group) |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:58,348,448...58,370,536
Ensembl chr 8:58,348,448...58,370,536
|
|
G |
Setd6 |
SET domain containing 6, protein lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
|
|
NCBI chr19:9,343,309...9,350,477
Ensembl chr19:9,347,458...9,350,453
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G |
Sf1 |
splicing factor 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
|
|
NCBI chr 1:203,670,016...203,683,432
Ensembl chr 1:203,670,018...203,684,330
|
|
G |
Sf3b2 |
splicing factor 3b, subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759
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Sipa1 |
signal-induced proliferation-associated 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591
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G |
Slc12a3 |
solute carrier family 12 member 3 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:10,630,651...10,679,250
Ensembl chr19:10,631,393...10,669,091
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G |
Slc25a45 |
solute carrier family 25, member 45 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:203,166,362...203,174,473
Ensembl chr 1:203,166,683...203,174,473
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G |
Slc29a2 |
solute carrier family 29 member 2 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,327,641...202,335,185
Ensembl chr 1:202,327,354...202,335,171
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G |
Slc38a7 |
solute carrier family 38, member 7 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,209,203...9,225,472
Ensembl chr19:9,209,257...9,225,454
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G |
Slx4ip |
SLX4 interacting protein |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:124,220,215...124,396,797
Ensembl chr 3:124,221,198...124,396,797
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G |
Snap25 |
synaptosome associated protein 25 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
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G |
Snx15 |
sorting nexin 15 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:203,417,029...203,426,173
Ensembl chr 1:203,417,029...203,426,247
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G |
Snx32 |
sorting nexin 32 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,801,090...202,818,731
Ensembl chr 1:202,802,394...202,818,743
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G |
Spata7 |
spermatogenesis associated 7 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 6:117,879,828...117,925,284
Ensembl chr 6:117,879,823...117,925,284
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G |
Spmip8 |
sperm microtubule inner protein 8 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,713,281...9,722,257
Ensembl chr19:9,712,641...9,722,257
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G |
Stoml1 |
stomatin like 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:58,661,980...58,669,860
Ensembl chr 8:58,661,992...58,669,860
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Stra6 |
signaling receptor and transporter of retinol STRA6 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:58,548,899...58,568,861
Ensembl chr 8:58,549,736...58,568,860
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G |
Syvn1 |
synoviolin 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:203,339,235...203,346,137
Ensembl chr 1:203,339,619...203,346,152
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Tbc1d21 |
TBC1 domain family, member 21 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:58,761,562...58,773,711
Ensembl chr 8:58,761,563...58,773,711
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Tbc1d32 |
TBC1 domain family, member 32 |
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ISS |
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MouseDO |
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NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
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Tigd3 |
tigger transposable element derived 3 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:203,178,456...203,182,775
Ensembl chr 1:203,178,460...203,181,272
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Tm7sf2 |
transmembrane 7 superfamily member 2 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270
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Tmem151a |
transmembrane protein 151A |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,387,397...202,392,182
Ensembl chr 1:202,388,240...202,392,182
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Tmem67 |
transmembrane protein 67 |
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ISO |
DNA:missense mutation: :p.S320C (human) ClinVar Annotator: match by term: Bardet-Biedl syndrome CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:16415887 PMID:18327255 PMID:20232449 PMID:23559409 PMID:25741868 PMID:27491411 PMID:28492532 PMID:18327255 More...
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RGD:11070512 |
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Trappc3 |
trafficking protein particle complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
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NCBI chr 5:138,559,238...138,572,825
Ensembl chr 5:138,557,754...138,572,819
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Trim32 |
tripartite motif-containing 32 |
susceptibility |
ISO |
DNA:missense mutation:exon:p.P130S ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar RGD |
PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 PMID:16606853 PMID:17994549 PMID:19349376 PMID:19492423 PMID:21775502 PMID:22025579 PMID:22626039 PMID:22981120 PMID:23142638 PMID:23541687 PMID:24033266 PMID:25351777 PMID:25741868 PMID:26467025 PMID:27491411 PMID:28492532 PMID:28812413 PMID:29921608 PMID:30564623 PMID:30823891 PMID:31624253 PMID:32419263 PMID:32528171 PMID:33296226 PMID:35055178 PMID:16606853 More...
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RGD:1624129 |
NCBI chr 5:79,005,139...79,016,615
Ensembl chr 5:78,999,389...79,022,018
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Tsga10ip |
testis specific 10 interacting protein |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,700,576...202,714,668
Ensembl chr 1:202,700,578...202,714,798
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G |
Tspoap1 |
TSPO associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr10:72,554,220...72,586,402
Ensembl chr10:72,560,980...72,586,412
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Ttc8 |
tetratricopeptide repeat domain 8 |
susceptibility |
ISO |
DNA:deletions:exon, splice junction :p.E187_Y188del, IVS10+2_+4delTGC ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar RGD |
PMID:9536098 PMID:14520415 PMID:16199547 PMID:16308660 PMID:16877420 PMID:17576681 PMID:19797195 PMID:20177705 PMID:21044901 PMID:21052717 PMID:24033266 PMID:25097241 PMID:25741868 PMID:25999674 PMID:26401321 PMID:28492532 PMID:28914264 PMID:29030401 PMID:30718709 PMID:30886724 PMID:31736247 PMID:31852928 PMID:32962042 PMID:33138063 PMID:33587123 PMID:33964006 PMID:14520415 More...
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RGD:1624198 |
NCBI chr 6:118,198,186...118,252,422
Ensembl chr 6:118,198,201...118,252,418
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Ubl7 |
ubiquitin-like 7 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:58,321,279...58,340,353
Ensembl chr 8:58,320,866...58,340,344
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G |
Ugp2 |
UDP-glucose pyrophosphorylase 2 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr14:95,456,330...95,497,483
Ensembl chr14:95,456,330...95,496,830
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G |
Ulk3 |
unc-51 like kinase 3 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:57,992,396...58,000,220
Ensembl chr 8:57,992,723...57,999,467
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G |
Usb1 |
U6 snRNA biogenesis phosphodiesterase 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,689,313...9,702,306
Ensembl chr19:9,689,316...9,702,302
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Ush2a |
usherin |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28041643 PMID:28492532 |
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NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
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G |
Vps51 |
VPS51 subunit of GARP complex |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:203,360,434...203,370,422
Ensembl chr 1:203,360,440...203,370,430
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Vps54 |
VPS54 subunit of GARP complex |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr14:95,378,821...95,455,871
Ensembl chr14:95,378,012...95,455,857
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G |
Wdpcp |
WD repeat containing planar cell polarity effector |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20671153 PMID:25326635 PMID:25427950 PMID:25640679 PMID:25741868 PMID:27158779 PMID:28289185 PMID:28492532 PMID:29588463 PMID:32483926 PMID:33046855 More...
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NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
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G |
Wdr19 |
WD repeat domain 19 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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G |
Yif1a |
Yip1 interacting factor homolog A, membrane trafficking protein |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:202,394,923...202,399,125
Ensembl chr 1:202,394,897...202,399,427
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G |
Zc3h14 |
zinc finger CCCH type containing 14 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 6:118,006,420...118,044,480
Ensembl chr 6:118,006,458...118,044,105
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Zdhhc24 |
zinc finger, DHHC-type containing 24 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:9536098 PMID:10564830 PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:12920096 PMID:15314642 PMID:15666242 PMID:15770229 PMID:16199547 PMID:16327777 PMID:16877420 PMID:17003356 PMID:17065520 PMID:17576681 PMID:17980398 PMID:18032602 PMID:18669544 PMID:18766993 PMID:19858128 PMID:20177705 PMID:20301537 PMID:20472660 PMID:20498079 PMID:20876674 PMID:21052717 PMID:21209035 PMID:21258341 PMID:21344540 PMID:21517826 PMID:21520335 PMID:21642631 PMID:22410627 PMID:22581970 PMID:22773737 PMID:22940089 PMID:22998390 PMID:23143442 PMID:23432027 PMID:23565731 PMID:23847139 PMID:23943788 PMID:24033266 PMID:24400638 PMID:24611592 PMID:24746959 PMID:25074776 PMID:25170860 PMID:25326635 PMID:25741868 PMID:25982971 PMID:25988237 PMID:26082521 PMID:26467025 PMID:26518167 PMID:26872967 PMID:27032803 PMID:27434533 PMID:27486776 PMID:27624628 PMID:27659767 PMID:27788217 PMID:27894351 PMID:28041643 PMID:28143435 PMID:28224992 PMID:28341476 PMID:28492532 PMID:28559085 PMID:28991257 PMID:29099798 PMID:29264490 PMID:29588463 PMID:30076350 PMID:30259503 PMID:30614526 PMID:30718709 PMID:31130284 PMID:31328266 PMID:31506453 PMID:31836858 PMID:32165824 PMID:32349990 PMID:32451492 PMID:32531858 PMID:32552793 PMID:33532864 PMID:33594065 PMID:34526762 PMID:34906470 PMID:34940782 PMID:35692835 PMID:35835773 PMID:35886001 PMID:36460718 PMID:36819107 PMID:36909829 More...
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NCBI chr 1:202,175,832...202,181,943
Ensembl chr 1:202,175,807...202,182,880
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G |
Zfp319 |
zinc finger protein 319 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:11285252 PMID:20177705 PMID:24608809 PMID:26518167 PMID:28492532 PMID:28747448 PMID:30866059 More...
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NCBI chr19:9,702,827...9,706,806
Ensembl chr19:9,702,144...9,713,198
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G |
Zfpl1 |
zinc finger protein-like 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:203,374,500...203,378,518
Ensembl chr 1:203,374,504...203,378,487
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G |
Znhit2 |
zinc finger, HIT-type containing 2 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:203,354,297...203,355,578
Ensembl chr 1:203,354,138...203,355,636
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G |
Znrd2 |
zinc ribbon domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:12118255 PMID:16786513 PMID:21520335 PMID:27032803 PMID:28492532 More...
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NCBI chr 1:203,017,682...203,019,465
Ensembl chr 1:203,017,682...203,019,465
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G |
Arl6 |
ADP-ribosylation factor like GTPase 6 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:15258860 PMID:15314642 PMID:19236846 PMID:19858128 PMID:20142850 PMID:22334370 PMID:25741868 PMID:26355662 PMID:27124789 PMID:27486776 PMID:28005406 PMID:28130426 PMID:28492532 PMID:31054281 PMID:31736247 PMID:32906206 PMID:33090715 PMID:35457050 More...
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NCBI chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937
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G |
Bbip1 |
BBSome interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 |
ClinVar |
PMID:24026985 |
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NCBI chr 1:252,943,589...252,959,512
Ensembl chr 1:252,945,557...252,959,352
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G |
Bbs1 |
Bardet-Biedl syndrome 1 |
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ISO ISS |
ClinVar Annotator: match by term: BBS1-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 OMIM:209900 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:10564830 PMID:12118255 PMID:12524598 PMID:12567324 PMID:12677556 PMID:12837689 PMID:12872256 PMID:12920096 PMID:15314642 PMID:15666242 PMID:15770229 PMID:16199547 PMID:16327777 PMID:16582908 PMID:16877420 PMID:17003356 PMID:17065520 PMID:17576681 PMID:17980398 PMID:18032602 PMID:18327255 PMID:18669544 PMID:18766993 PMID:19797195 PMID:19858128 PMID:20120035 PMID:20177705 PMID:20301537 PMID:20472660 PMID:20498079 PMID:20876674 PMID:21052717 PMID:21258341 PMID:21344540 PMID:21517826 PMID:21520335 PMID:21642631 PMID:22353939 PMID:22410627 PMID:22581970 PMID:22773737 PMID:22940089 PMID:22998390 PMID:23143442 PMID:23432027 PMID:23559858 PMID:23565731 PMID:23847139 PMID:23943788 PMID:24033266 PMID:24400638 PMID:24611592 PMID:24746959 PMID:25074776 PMID:25170860 PMID:25326635 PMID:25741868 PMID:25780760 PMID:25982971 PMID:25988237 PMID:26261414 PMID:26467025 PMID:26518167 PMID:26566502 PMID:26872967 PMID:27032803 PMID:27434533 PMID:27624628 PMID:27659767 PMID:27788217 PMID:27884173 PMID:27894351 PMID:28041643 PMID:28143435 PMID:28224992 PMID:28341476 PMID:28492532 PMID:28559085 PMID:29191167 PMID:29264490 PMID:29588463 PMID:30076350 PMID:30259503 PMID:30484961 PMID:30614526 PMID:30718709 PMID:31130284 PMID:31213501 PMID:31534736 PMID:31836858 PMID:31964843 PMID:31997113 PMID:32037395 PMID:32165824 PMID:32349990 PMID:32451492 PMID:32531858 PMID:32552793 PMID:32949114 PMID:33532864 PMID:33594065 PMID:34526762 PMID:34906470 PMID:34940782 PMID:35692835 PMID:35886001 PMID:36460718 PMID:36909829 More...
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NCBI chr 1:202,184,812...202,204,118
Ensembl chr 1:202,186,125...202,204,086
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G |
Bbs10 |
Bardet-Biedl syndrome 10 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 |
ClinVar |
PMID:16582908 PMID:17106446 PMID:17980398 PMID:19190184 PMID:20080638 PMID:20120035 PMID:20177705 PMID:20472660 PMID:20498079 PMID:20805367 PMID:20876674 PMID:21044901 PMID:21052717 PMID:21209035 PMID:21344540 PMID:21517826 PMID:21642631 PMID:22410627 PMID:22773737 PMID:23591405 PMID:24033266 PMID:24400638 PMID:24746959 PMID:25366773 PMID:25741868 PMID:25982971 PMID:26467025 PMID:27032803 PMID:27385962 PMID:27449316 PMID:27486776 PMID:28041643 PMID:28492532 PMID:30614526 PMID:30718709 PMID:31196119 More...
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NCBI chr 7:46,751,028...46,754,132
Ensembl chr 7:46,750,993...46,754,141
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G |
Bbs12 |
Bardet-Biedl syndrome 12 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 |
ClinVar |
PMID:17160889 PMID:20498079 PMID:22025579 PMID:22773737 PMID:23591405 PMID:25741868 PMID:25780760 PMID:28492532 PMID:30614526 PMID:31196119 More...
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NCBI chr 2:120,203,396...120,221,024
Ensembl chr 2:120,203,428...120,219,255
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G |
Bbs2 |
Bardet-Biedl syndrome 2 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 |
ClinVar |
PMID:12524598 PMID:22025579 PMID:24349080 PMID:24793135 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
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G |
Bbs4 |
Bardet-Biedl syndrome 4 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 |
ClinVar |
PMID:12016587 PMID:20177705 PMID:20498079 PMID:25741868 PMID:28492532 |
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NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607
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G |
Bbs5 |
Bardet-Biedl syndrome 5 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 |
ClinVar |
PMID:15137946 PMID:16199547 PMID:16877420 PMID:21209035 PMID:25741868 PMID:26325687 PMID:27708425 PMID:28041643 PMID:28492532 PMID:29806606 More...
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NCBI chr 3:54,410,429...54,431,831
Ensembl chr 3:54,410,775...54,431,829
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G |
Bbs7 |
Bardet-Biedl syndrome 7 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:119,434,760...119,474,665
Ensembl chr 2:119,434,760...119,474,396
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G |
Bbs9 |
Bardet-Biedl syndrome 9 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 |
ClinVar |
PMID:16380913 PMID:20177705 PMID:23757202 PMID:25741868 PMID:28492532 |
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NCBI chr 8:21,013,865...21,437,934
Ensembl chr 8:21,013,944...21,437,930
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G |
Ccdc28b |
coiled coil domain containing 28B |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of |
OMIM CTD ClinVar |
PMID:12677556 PMID:16327777 PMID:25741868 PMID:28492532 PMID:29127258 |
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NCBI chr 5:141,962,275...141,967,278
Ensembl chr 5:141,962,276...141,967,382
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G |
Ift172 |
intraflagellar transport 172 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 |
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 |
Lztfl1 |
leucine zipper transcription factor-like 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 |
ClinVar |
PMID:23692385 |
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NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192
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G |
Mkks |
MKKS centrosomal shuttling protein |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of |
ClinVar |
PMID:12837689 |
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NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
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G |
Nphp1 |
nephrocystin 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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G |
Scaper |
S-phase cyclin A-associated protein in the ER |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 |
ClinVar |
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NCBI chr 8:55,932,717...56,332,222
Ensembl chr 8:55,933,306...56,332,122
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G |
Stx3 |
syntaxin 3 |
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ISO |
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RGD |
PMID:26216965 |
RGD:11532386 |
NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805
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G |
Stxbp1 |
syntaxin binding protein 1 |
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ISO |
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RGD |
PMID:26216965 |
RGD:11532386 |
NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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G |
Wdpcp |
WD repeat containing planar cell polarity effector |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
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G |
Zdhhc24 |
zinc finger, DHHC-type containing 24 |
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ISO |
ClinVar Annotator: match by term: BBS1-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 |
ClinVar |
PMID:9536098 PMID:10564830 PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:12920096 PMID:15314642 PMID:15666242 PMID:15770229 PMID:16199547 PMID:16327777 PMID:16582908 PMID:16877420 PMID:17003356 PMID:17065520 PMID:17576681 PMID:17980398 PMID:18032602 PMID:18669544 PMID:18766993 PMID:19858128 PMID:20177705 PMID:20301537 PMID:20472660 PMID:20498079 PMID:20876674 PMID:21052717 PMID:21258341 PMID:21344540 PMID:21517826 PMID:21520335 PMID:21642631 PMID:22410627 PMID:22581970 PMID:22773737 PMID:22940089 PMID:22998390 PMID:23143442 PMID:23432027 PMID:23565731 PMID:23847139 PMID:23943788 PMID:24033266 PMID:24400638 PMID:24746959 PMID:25074776 PMID:25170860 PMID:25326635 PMID:25741868 PMID:25982971 PMID:25988237 PMID:26467025 PMID:26518167 PMID:26566502 PMID:26872967 PMID:27032803 PMID:27434533 PMID:27624628 PMID:27659767 PMID:27788217 PMID:27894351 PMID:28041643 PMID:28143435 PMID:28224992 PMID:28341476 PMID:28492532 PMID:28559085 PMID:29264490 PMID:29588463 PMID:30076350 PMID:30259503 PMID:30484961 PMID:30614526 PMID:30718709 PMID:31130284 PMID:31213501 PMID:31836858 PMID:32165824 PMID:32349990 PMID:32451492 PMID:32531858 PMID:32552793 PMID:33532864 PMID:33594065 PMID:34526762 PMID:34906470 PMID:34940782 PMID:35692835 PMID:35886001 PMID:36460718 PMID:36909829 More...
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NCBI chr 1:202,175,832...202,181,943
Ensembl chr 1:202,175,807...202,182,880
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G |
Bbs2 |
Bardet-Biedl syndrome 2 |
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ISO |
ClinVar Annotator: match by term: Bardet-biedl syndrome 1/2, digenic |
ClinVar |
PMID:11285252 PMID:11567139 PMID:19402160 PMID:20177705 PMID:20498079 PMID:21344540 PMID:21642631 PMID:22410627 PMID:23829372 PMID:24608809 PMID:25541840 PMID:25741868 PMID:26518167 PMID:28492532 PMID:34906470 More...
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NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
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G |
Bbs7 |
Bardet-Biedl syndrome 7 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1/7, digenic |
ClinVar |
PMID:12567324 PMID:20498079 PMID:21642631 PMID:22500027 PMID:23572516 PMID:25741868 PMID:28492532 More...
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NCBI chr 2:119,434,760...119,474,665
Ensembl chr 2:119,434,760...119,474,396
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G |
Bbs10 |
Bardet-Biedl syndrome 10 |
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ISO ISS |
ClinVar Annotator: match by term: BBS10-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 | ClinVar Annotator: match by term: Bardet-biedl syndrome 1/10, digenic OMIM:615987 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:16582908 PMID:16823392 PMID:17106446 PMID:17576681 PMID:17980398 PMID:19190184 PMID:19797195 PMID:20080638 PMID:20120035 PMID:20177705 PMID:20472660 PMID:20498079 PMID:20805367 PMID:20876674 PMID:21044901 PMID:21052717 PMID:21157496 PMID:21209035 PMID:21344540 PMID:21463199 PMID:21517826 PMID:21642631 PMID:22353939 PMID:22410627 PMID:22773737 PMID:22958920 PMID:22995991 PMID:23591405 PMID:24033266 PMID:24041679 PMID:24400638 PMID:24488770 PMID:24611592 PMID:24746959 PMID:25133751 PMID:25170860 PMID:25326635 PMID:25366773 PMID:25412400 PMID:25439097 PMID:25741868 PMID:25966130 PMID:25982971 PMID:25988237 PMID:26003401 PMID:26273430 PMID:26467025 PMID:26518167 PMID:27032803 PMID:27245532 PMID:27385962 PMID:27449316 PMID:27486776 PMID:27533158 PMID:27659767 PMID:27788217 PMID:27959697 PMID:28041643 PMID:28143435 PMID:28492532 PMID:28808579 PMID:29261186 PMID:29806606 PMID:30335236 PMID:30408610 PMID:30614526 PMID:30718709 PMID:31196119 PMID:31639430 PMID:32448990 PMID:32531858 PMID:33964006 PMID:34940782 PMID:35112343 PMID:36312387 More...
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NCBI chr 7:46,751,028...46,754,132
Ensembl chr 7:46,750,993...46,754,141
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G |
Osbpl8 |
oxysterol binding protein-like 8 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 |
ClinVar |
PMID:20472660 PMID:22773737 PMID:25741868 PMID:25982971 PMID:27486776 PMID:28492532 More...
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NCBI chr 7:46,596,944...46,749,888
Ensembl chr 7:46,596,983...46,749,888
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G |
Astn2 |
astrotactin 2 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 11 |
ClinVar |
PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 PMID:16606853 PMID:17994549 PMID:19349376 PMID:19492423 PMID:21775502 PMID:22025579 PMID:22981120 PMID:23142638 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29921608 PMID:30823891 PMID:31624253 PMID:33296226 More...
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NCBI chr 5:78,758,142...79,744,021
Ensembl chr 5:78,758,142...79,748,273
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G |
Trim32 |
tripartite motif-containing 32 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 11 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 PMID:16606853 PMID:17994549 PMID:19349376 PMID:19492423 PMID:21775502 PMID:22025579 PMID:22981120 PMID:23142638 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29921608 PMID:30823891 PMID:31624253 PMID:33296226 More...
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NCBI chr 5:79,005,139...79,016,615
Ensembl chr 5:78,999,389...79,022,018
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G |
Bbs12 |
Bardet-Biedl syndrome 12 |
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ISO |
ClinVar Annotator: match by term: BBS12-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 12 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:17160889 PMID:20080638 PMID:20120035 PMID:20142850 PMID:20472660 PMID:20498079 PMID:20648243 PMID:20827784 PMID:21052717 PMID:21209035 PMID:21344540 PMID:21463199 PMID:21642631 PMID:22025579 PMID:22410627 PMID:22773737 PMID:23591405 PMID:24416769 PMID:24611592 PMID:25133751 PMID:25170860 PMID:25741868 PMID:25780760 PMID:25982971 PMID:26082521 PMID:26489029 PMID:27004616 PMID:27659767 PMID:27708425 PMID:28224992 PMID:28492532 PMID:28912962 PMID:30614526 PMID:30718709 PMID:31196119 PMID:31888296 PMID:31964843 PMID:32448990 PMID:32531858 PMID:33046855 PMID:33532864 PMID:35912300 More...
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NCBI chr 2:120,203,396...120,221,024
Ensembl chr 2:120,203,428...120,219,255
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G |
Mks1 |
MKS transition zone complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 13 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17437276 PMID:17576681 PMID:17935508 PMID:18327255 PMID:18414213 PMID:19430481 PMID:19466712 PMID:20301500 PMID:21068128 PMID:21228398 PMID:21258341 PMID:23351400 PMID:23736532 PMID:24033266 PMID:24608809 PMID:24886560 PMID:25363768 PMID:25741868 PMID:26092869 PMID:26490104 PMID:26862157 PMID:27353947 PMID:27377014 PMID:27570071 PMID:28224992 PMID:28492532 PMID:28497568 PMID:28771248 PMID:28981474 PMID:29620724 PMID:30055837 PMID:30076350 PMID:30679815 PMID:30718709 PMID:30902645 PMID:31191208 PMID:31456290 PMID:31964843 PMID:33193692 PMID:33584783 PMID:34008892 PMID:34011629 PMID:34359301 PMID:34582790 PMID:35587316 More...
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NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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G |
Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17617513 PMID:17705300 PMID:17964524 PMID:18327255 PMID:18414213 PMID:19466712 PMID:19764032 PMID:19959640 PMID:20079931 PMID:20130272 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22334370 PMID:22355252 PMID:22446187 PMID:22693042 PMID:22699515 PMID:23027964 PMID:23034536 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24265693 PMID:24474277 PMID:24850569 PMID:25097241 PMID:25324289 PMID:25356976 PMID:25377065 PMID:25439097 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26062849 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26529047 PMID:26667666 PMID:26673778 PMID:27032803 PMID:27208204 PMID:27353947 PMID:27375279 PMID:27422788 PMID:27434533 PMID:27491411 PMID:27848944 PMID:27894351 PMID:28041643 PMID:28127548 PMID:28157192 PMID:28224992 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28510626 PMID:28559085 PMID:28660274 PMID:28829391 PMID:28912962 PMID:28966547 PMID:28973549 PMID:29053603 PMID:29146704 PMID:29178642 PMID:29186038 PMID:29217415 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29641573 PMID:29754767 PMID:29771326 PMID:29844330 PMID:29970488 PMID:30193310 PMID:30559420 PMID:30718709 PMID:30776697 PMID:30879067 PMID:30897646 PMID:30902645 PMID:31054281 PMID:31091803 PMID:31411728 PMID:31456290 PMID:31624253 PMID:31630094 PMID:31680349 PMID:31734136 PMID:31816670 PMID:31840411 PMID:31877679 PMID:31884610 PMID:31964843 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32165824 PMID:32208788 PMID:32619255 PMID:32856788 PMID:32865313 PMID:33105651 PMID:33249554 PMID:33308271 PMID:33502066 PMID:33532864 PMID:33546218 PMID:33574314 PMID:33726816 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34196655 PMID:34795310 PMID:34906470 PMID:35005812 PMID:35314707 PMID:35764379 PMID:35836572 PMID:36460718 PMID:36729443 PMID:36909829 PMID:36990420 PMID:37008293 PMID:37510321 More...
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NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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G |
Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 |
ClinVar |
PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 PMID:29588463 PMID:30193310 More...
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NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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G |
Tmem67 |
transmembrane protein 67 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 14, modifier of CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:2929661 PMID:9375913 PMID:17377820 PMID:17397051 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:22700954 PMID:23351400 PMID:23559409 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28125082 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28973083 PMID:29127258 PMID:29146704 PMID:29891882 More...
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NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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G |
Wdpcp |
WD repeat containing planar cell polarity effector |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bardet-Biedl syndrome 15 |
OMIM CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20671153 PMID:25326635 PMID:25427950 PMID:25741868 PMID:27158779 PMID:28289185 PMID:28492532 PMID:32860008 More...
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NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
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G |
Akt3 |
AKT serine/threonine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 |
ClinVar |
PMID:28492532 |
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NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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G |
Pde11a |
phosphodiesterase 11A |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 |
ClinVar |
PMID:16767104 PMID:19671705 PMID:20351491 PMID:21047926 PMID:25741868 PMID:27535533 PMID:28492532 More...
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NCBI chr 3:60,913,562...61,297,154
Ensembl chr 3:60,913,562...61,297,158
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G |
Sdccag8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
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ISO ISS |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 OMIM:615993 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20835237 PMID:22190896 PMID:22626039 PMID:23188109 PMID:25741868 PMID:27486776 PMID:28492532 PMID:32483926 More...
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NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
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G |
Ccr9 |
C-C motif chemokine receptor 9 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 17 |
ClinVar |
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NCBI chr 8:123,396,157...123,410,199
Ensembl chr 8:123,395,813...123,413,969
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G |
Lztfl1 |
leucine zipper transcription factor-like 1 |
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ISO ISS |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 17 | ClinVar Annotator: match by term: LZTFL1-related condition OMIM:615994 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:22510444 PMID:23692385 PMID:25741868 PMID:28492532 |
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NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192
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G |
Stx3 |
syntaxin 3 |
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ISO |
protein:increased expression:photoreceptor outer segment layer |
RGD |
PMID:26216965 |
RGD:11532386 |
NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805
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G |
Stxbp1 |
syntaxin binding protein 1 |
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ISO |
protein:increased expression:photoreceptor outer segment layer |
RGD |
PMID:26216965 |
RGD:11532386 |
NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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G |
Bbip1 |
BBSome interacting protein 1 |
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ISO ISS |
ClinVar Annotator: match by term: BBIP1-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 18 OMIM:615995 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:17576681 PMID:24026985 PMID:25741868 PMID:28492532 PMID:32055034 PMID:32552793 More...
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NCBI chr 1:252,943,589...252,959,512
Ensembl chr 1:252,945,557...252,959,352
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G |
Ift27 |
intraflagellar transport 27 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 19 | ClinVar Annotator: match by term: IFT27-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:24488770 PMID:25741868 PMID:27894351 PMID:28492532 PMID:29704304 PMID:30761183 PMID:34888642 More...
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NCBI chr 7:109,738,622...109,754,416
Ensembl chr 7:109,738,622...109,754,416
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G |
Bbs2 |
Bardet-Biedl syndrome 2 |
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ISO ISS |
ClinVar Annotator: match by term: BBS2-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 2 OMIM:615981 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:8298649 PMID:9536098 PMID:11285252 PMID:11567139 PMID:11886943 PMID:12016587 PMID:12524598 PMID:12677556 PMID:12837689 PMID:12920096 PMID:14520415 PMID:15666242 PMID:15770229 PMID:16199547 PMID:16582908 PMID:16823392 PMID:16877420 PMID:16909204 PMID:17576681 PMID:19402160 PMID:19797195 PMID:20120035 PMID:20177705 PMID:20498079 PMID:20618352 PMID:21044901 PMID:21052717 PMID:21157496 PMID:21344540 PMID:21463199 PMID:21642631 PMID:22025579 PMID:22353939 PMID:22401627 PMID:22410627 PMID:22773737 PMID:22981120 PMID:23432027 PMID:23829372 PMID:24033266 PMID:24154662 PMID:24280758 PMID:24349080 PMID:24608809 PMID:24793135 PMID:24849935 PMID:25133751 PMID:25412400 PMID:25525159 PMID:25533962 PMID:25541840 PMID:25611614 PMID:25741868 PMID:25988237 PMID:25999675 PMID:26078953 PMID:26325687 PMID:26355662 PMID:26467025 PMID:26518167 PMID:27032803 PMID:27058611 PMID:27353947 PMID:27659767 PMID:27708425 PMID:27894351 PMID:28005958 PMID:28143435 PMID:28374938 PMID:28387813 PMID:28418496 PMID:28492532 PMID:28559085 PMID:28717663 PMID:28800606 PMID:29588463 PMID:30029678 PMID:30293640 PMID:30614526 PMID:30718709 PMID:30902645 PMID:31054281 PMID:31283077 PMID:31429209 PMID:31456290 PMID:31530639 PMID:31877679 PMID:31960602 PMID:31980526 PMID:32037395 PMID:32349990 PMID:32436246 PMID:33138063 PMID:33226606 PMID:33520300 PMID:33777945 PMID:33921607 PMID:34008892 PMID:34906470 PMID:35112343 PMID:35886001 More...
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NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
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G |
F8 |
coagulation factor VIII |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 2 |
ClinVar |
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NCBI chr18:140,848...172,330
Ensembl chr18:140,955...171,857
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 2 |
ClinVar |
PMID:18327258 PMID:21068128 PMID:21258341 PMID:23559409 PMID:24876116 PMID:25492405 PMID:25741868 PMID:27491411 PMID:28492532 PMID:29068549 PMID:36263627 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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G |
Bbs2 |
Bardet-Biedl syndrome 2 |
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ISO |
ClinVar Annotator: match by term: Bardet-biedl syndrome 2/4, digenic |
ClinVar |
PMID:11567139 PMID:20498079 PMID:25741868 PMID:26355662 PMID:27894351 PMID:28492532 PMID:33777945 PMID:33921607 More...
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NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
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G |
Bbs2 |
Bardet-Biedl syndrome 2 |
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ISO |
ClinVar Annotator: match by term: Bardet-biedl syndrome 2/6, digenic |
ClinVar |
PMID:11285252 PMID:11567139 PMID:15666242 PMID:20120035 PMID:20177705 PMID:20498079 PMID:21344540 PMID:24608809 PMID:25741868 PMID:26518167 PMID:28492532 PMID:30718709 More...
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NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
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G |
Mkks |
MKKS centrosomal shuttling protein |
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ISO |
ClinVar Annotator: match by term: Bardet-biedl syndrome 2/6, digenic |
ClinVar |
PMID:10802661 PMID:10973251 PMID:11567139 PMID:18094050 PMID:20177705 PMID:20226561 PMID:20498079 PMID:21209035 PMID:22446187 PMID:25741868 PMID:25982971 PMID:28492532 More...
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NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
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G |
Ift172 |
intraflagellar transport 172 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 20 |
OMIM ClinVar |
PMID:24140113 PMID:24290075 PMID:25168386 PMID:25741868 PMID:26763875 PMID:28492532 PMID:28559085 PMID:29068549 PMID:31587445 PMID:32451492 PMID:34567078 PMID:36413997 More...
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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 |
Krtcap3 |
keratinocyte associated protein 3 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 20 |
ClinVar |
PMID:25168386 PMID:25741868 PMID:28492532 |
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NCBI chr 6:25,120,938...25,122,522
Ensembl chr 6:25,120,938...25,122,507
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G |
Cfap418 |
cilia and flagella associated protein 418 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bardet-biedl syndrome 21 |
OMIM CTD ClinVar |
PMID:22177090 PMID:25515582 PMID:25741868 PMID:26355662 PMID:26854863 PMID:27008867 PMID:28492532 PMID:29127258 PMID:30029497 PMID:31456290 More...
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NCBI chr 5:23,996,395...24,015,609
Ensembl chr 5:23,996,718...24,015,605
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G |
Ift172 |
intraflagellar transport 172 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 22 |
ClinVar |
PMID:24290075 PMID:25741868 PMID:28492532 PMID:31587445 PMID:32451492 |
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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 |
Ift74 |
intraflagellar transport 74 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bardet-Biedl syndrome 22 |
OMIM CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27486776 PMID:28492532 PMID:32144365 PMID:33531668 PMID:33748949 More...
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NCBI chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833
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G |
Arl6 |
ADP-ribosylation factor like GTPase 6 |
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ISO ISS |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 3 OMIM:600151 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:15258860 PMID:15314642 PMID:16199547 PMID:17160889 PMID:17576681 PMID:19236846 PMID:19858128 PMID:20142850 PMID:20177705 PMID:20498079 PMID:22334370 PMID:22410627 PMID:23219996 PMID:24400638 PMID:25741868 PMID:26355662 PMID:27124789 PMID:27383656 PMID:27486776 PMID:27708425 PMID:28005406 PMID:28041643 PMID:28130426 PMID:28492532 PMID:29806606 PMID:31054281 PMID:31456290 PMID:31736247 PMID:32361989 PMID:32483926 PMID:32906206 PMID:33090715 PMID:33946315 PMID:34716235 PMID:34906470 PMID:35457050 More...
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NCBI chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937
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G |
Epha6 |
Eph receptor A6 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 3 |
ClinVar |
PMID:15258860 PMID:19858128 PMID:20142850 PMID:22334370 PMID:27486776 PMID:28492532 PMID:31736247 More...
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NCBI chr11:39,757,501...40,708,901
Ensembl chr11:39,757,181...40,698,311
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G |
Bbs4 |
Bardet-Biedl syndrome 4 |
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ISO ISS |
ClinVar Annotator: match by term: BBS4-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 4 OMIM:615982 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:388431 PMID:7711739 PMID:9536098 PMID:11381270 PMID:12016587 PMID:12524598 PMID:12872256 PMID:15654695 PMID:15666242 PMID:16199547 PMID:17576681 PMID:19402160 PMID:19858128 PMID:20177705 PMID:20498079 PMID:21344540 PMID:22353939 PMID:23591405 PMID:25741868 PMID:26518167 PMID:27208204 PMID:27486776 PMID:27894351 PMID:28492532 PMID:29039417 PMID:31964843 PMID:31980526 PMID:32531858 PMID:33777945 PMID:34906470 PMID:35456422 PMID:35886001 More...
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NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607
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G |
Bbs5 |
Bardet-Biedl syndrome 5 |
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ISO ISS |
ClinVar Annotator: match by term: BBS5-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 5 OMIM:615983 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:11342895 PMID:15137946 PMID:16199547 PMID:16877420 PMID:17576681 PMID:18203199 PMID:19367329 PMID:19797195 PMID:21052717 PMID:21209035 PMID:22626039 PMID:25741868 PMID:25982971 PMID:26325687 PMID:27708425 PMID:28041643 PMID:28492532 PMID:29806606 PMID:30718709 PMID:31760295 PMID:32451492 PMID:32641690 PMID:33572860 More...
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NCBI chr 3:54,410,429...54,431,831
Ensembl chr 3:54,410,775...54,431,829
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G |
Mkks |
MKKS centrosomal shuttling protein |
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ISO ISS |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 6 OMIM:605231 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:10802661 PMID:10973238 PMID:10973251 PMID:11179009 PMID:11567139 PMID:12107442 PMID:12920096 PMID:15637713 PMID:15731008 PMID:15770229 PMID:16104012 PMID:17576681 PMID:18094050 PMID:20080638 PMID:20142850 PMID:20177705 PMID:20226561 PMID:20472660 PMID:20498079 PMID:20502701 PMID:21157496 PMID:21209035 PMID:22446187 PMID:22500027 PMID:24400638 PMID:25741868 PMID:25982971 PMID:26900326 PMID:27491411 PMID:28492532 PMID:28753627 PMID:28761321 PMID:29127258 PMID:30586318 PMID:30614526 PMID:30718709 PMID:33138063 PMID:33520300 More...
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NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
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G |
Bbs10 |
Bardet-Biedl syndrome 10 |
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ISO |
ClinVar Annotator: match by term: Bardet-biedl syndrome 6/10, digenic |
ClinVar |
PMID:16582908 PMID:20120035 PMID:20805367 PMID:20876674 PMID:21052717 PMID:21209035 PMID:21344540 PMID:21642631 PMID:24400638 PMID:24746959 PMID:25741868 PMID:26467025 PMID:27385962 PMID:28041643 PMID:28492532 PMID:30614526 PMID:30718709 More...
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NCBI chr 7:46,751,028...46,754,132
Ensembl chr 7:46,750,993...46,754,141
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G |
Bbs7 |
Bardet-Biedl syndrome 7 |
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ISO |
ClinVar Annotator: match by term: BBS7-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 7 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:12567324 PMID:16199547 PMID:16308660 PMID:17576681 PMID:19402160 PMID:19797195 PMID:20498079 PMID:21052717 PMID:21209035 PMID:21344540 PMID:21642631 PMID:21937992 PMID:22302990 PMID:22500027 PMID:23462753 PMID:23572516 PMID:23847139 PMID:25553308 PMID:25741868 PMID:26003401 PMID:26325687 PMID:26518167 PMID:27486776 PMID:28492532 PMID:28761321 PMID:30614526 PMID:30718709 PMID:31196119 PMID:31521835 PMID:32448990 PMID:32531858 PMID:32686083 PMID:33777945 More...
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NCBI chr 2:119,434,760...119,474,665
Ensembl chr 2:119,434,760...119,474,396
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G |
Ttc8 |
tetratricopeptide repeat domain 8 |
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ISO ISS |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 8 | ClinVar Annotator: match by term: TTC8-related condition OMIM:615985 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:14520415 PMID:16199547 PMID:16308660 PMID:16877420 PMID:17576681 PMID:19797195 PMID:20177705 PMID:21044901 PMID:21052717 PMID:24033266 PMID:25097241 PMID:25741868 PMID:26401321 PMID:28492532 PMID:28914264 PMID:29030401 PMID:30718709 PMID:30886724 PMID:32962042 PMID:33138063 PMID:33532864 PMID:33964006 More...
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NCBI chr 6:118,198,186...118,252,422
Ensembl chr 6:118,198,201...118,252,418
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G |
Bbs9 |
Bardet-Biedl syndrome 9 |
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ISO |
ClinVar Annotator: match by term: BBS9-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 9 | ClinVar Annotator: match by term: Retinal vascular dystrophy CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:16380913 PMID:17576681 PMID:20177705 PMID:21209035 PMID:22353939 PMID:23160099 PMID:23757202 PMID:24746959 PMID:24849935 PMID:25741868 PMID:26518167 PMID:26766544 PMID:27486776 PMID:27708425 PMID:28492532 PMID:29096039 PMID:29970488 PMID:30614526 PMID:30718709 PMID:30773290 PMID:31054281 PMID:31456290 PMID:31488071 PMID:31736247 PMID:31888296 PMID:32165602 PMID:32686083 PMID:33138063 PMID:33777945 PMID:33964006 More...
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NCBI chr 8:21,013,865...21,437,934
Ensembl chr 8:21,013,944...21,437,930
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G |
Angpt2 |
angiopoietin 2 |
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IEP |
protein:increased expression:bile duct (rat) |
RGD |
PMID:16628643 |
RGD:2314213 |
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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G |
Ift56 |
intraflagellar transport 56 |
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ISO |
ClinVar Annotator: match by term: Caroli disease |
ClinVar |
PMID:25741868 PMID:31595528 PMID:32617964 |
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NCBI chr 4:67,090,622...67,154,707
Ensembl chr 4:67,090,660...67,147,903
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G |
Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
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ISO |
ClinVar Annotator: match by term: Caroli disease |
ClinVar |
PMID:1189128 PMID:11898128 PMID:12846734 PMID:12874454 PMID:15108277 PMID:15108281 PMID:15698423 PMID:15805161 PMID:16133180 PMID:19914852 PMID:20413436 PMID:21228398 PMID:25701400 PMID:25741868 PMID:26695994 PMID:27151922 PMID:27225849 PMID:27894351 PMID:28492530 PMID:28492532 PMID:29068549 PMID:30343465 PMID:30773290 PMID:31130284 PMID:31844813 PMID:31980526 PMID:32359821 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32799815 PMID:35715958 More...
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NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381
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G |
Wdr19 |
WD repeat domain 19 |
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ISO |
associated with Nephronophthisis 13;DNA:missense mutations:cds:multiple (human) |
RGD |
PMID:25726036 |
RGD:11528287 |
NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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G |
Tp73 |
tumor protein p73 |
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ISO |
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly |
OMIM ClinVar |
PMID:25741868 PMID:34077761 |
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NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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G |
Dnah5 |
dynein, axonemal, heavy chain 5 |
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ISO |
ClinVar Annotator: match by term: Ciliary dyskinesia |
ClinVar |
PMID:2127064 PMID:2389146 PMID:2506606 PMID:9536098 PMID:11062149 PMID:11788826 PMID:11912187 PMID:15750039 PMID:16199547 PMID:16492982 PMID:16627867 PMID:17534128 PMID:17576681 PMID:18492703 PMID:18950741 PMID:19357118 PMID:19630565 PMID:19763152 PMID:20301301 PMID:20307669 PMID:21270641 PMID:22406018 PMID:22416021 PMID:22499950 PMID:23261302 PMID:23477994 PMID:23891469 PMID:24033266 PMID:24150548 PMID:24448499 PMID:24498942 PMID:24905662 PMID:25066065 PMID:25118008 PMID:25186273 PMID:25326635 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25802884 PMID:26139845 PMID:26228299 PMID:26373788 PMID:26918822 PMID:26938784 PMID:27428751 PMID:27618201 PMID:27637300 PMID:27637763 PMID:27779714 PMID:27988889 PMID:28492532 PMID:28939216 PMID:28976722 PMID:29089047 PMID:29363216 PMID:29402277 PMID:29453417 PMID:30067075 PMID:30148830 PMID:30290127 PMID:30293990 PMID:30300419 PMID:31213628 PMID:31443223 PMID:31469207 PMID:31589614 PMID:31624253 PMID:31638833 PMID:31765523 PMID:31772028 PMID:31879361 PMID:32111882 PMID:32357925 PMID:32367404 PMID:32502479 PMID:32502767 PMID:33574797 PMID:33577779 PMID:33589394 PMID:33635012 PMID:33715250 More...
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NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
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G |
Dnah8 |
dynein, axonemal, heavy chain 8 |
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ISO |
ClinVar Annotator: match by term: Ciliary dyskinesia | ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24307375 PMID:25741868 PMID:28492532 PMID:31213628 PMID:32037394 PMID:32619401 PMID:32681648 More...
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NCBI chr20:8,692,939...8,946,780
Ensembl chr20:8,692,963...8,946,772
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G |
Dnai1 |
dynein, axonemal, intermediate chain 1 |
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ISO |
ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
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G |
Ift122 |
intraflagellar transport 122 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20493458 |
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NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
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G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19668215 PMID:19668216 |
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NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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G |
Rpgr |
retinitis pigmentosa GTPase regulator |
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ISO |
associated with Retinitis Pigmentosa 3;DNA:exon, intron:g.631_IVS6+9del (human) ClinVar Annotator: match by term: Ciliary dyskinesia | ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME |
ClinVar RGD |
PMID:8673101 PMID:8817343 PMID:9326322 PMID:9331262 PMID:9399904 PMID:9536098 PMID:9855162 PMID:9990021 PMID:10480356 PMID:10482958 PMID:10737996 PMID:10932196 PMID:10937588 PMID:10946359 PMID:11180598 PMID:11754050 PMID:11793468 PMID:11857109 PMID:11875055 PMID:11992260 PMID:12160730 PMID:12402343 PMID:12657579 PMID:12859409 PMID:14564670 PMID:15734019 PMID:16055928 PMID:16199547 PMID:16387007 PMID:16786505 PMID:16936086 PMID:16969763 PMID:17195164 PMID:17405150 PMID:17480003 PMID:17576681 PMID:17724181 PMID:17898302 PMID:18332319 PMID:18487280 PMID:18552978 PMID:19138872 PMID:19218993 PMID:19475717 PMID:19783189 PMID:19815619 PMID:20631154 PMID:20861475 PMID:21326217 PMID:21857984 PMID:21866333 PMID:22264887 PMID:22382802 PMID:22494545 PMID:22888088 PMID:23150612 PMID:23213406 PMID:23372056 PMID:23591405 PMID:23681342 PMID:23847139 PMID:23950152 PMID:24033266 PMID:25097241 PMID:25356976 PMID:25640679 PMID:25741868 PMID:26261414 PMID:26747767 PMID:26766544 PMID:27620828 PMID:27768226 PMID:28041643 PMID:28127548 PMID:28322733 PMID:28492532 PMID:28559085 PMID:28863407 PMID:28912962 PMID:29276052 PMID:29453956 PMID:29528978 PMID:29555955 PMID:29641573 PMID:29721948 PMID:29785639 PMID:30029497 PMID:30067075 PMID:30105367 PMID:30193314 PMID:30337596 PMID:30543658 PMID:30622176 PMID:30718709 PMID:30902645 PMID:30917587 PMID:30924848 PMID:31054281 PMID:31087526 PMID:31456290 PMID:31630094 PMID:31645972 PMID:31804667 PMID:31953110 PMID:31960602 PMID:32000842 PMID:32037395 PMID:32531858 PMID:32679846 PMID:32702353 PMID:32788070 PMID:32856788 PMID:33090715 PMID:33355362 PMID:33546218 PMID:33576794 PMID:34906470 PMID:34946927 PMID:35892439 PMID:16055928 More...
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RGD:1599600 |
NCBI chr X:12,566,447...12,628,171
Ensembl chr X:12,566,645...12,747,882
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Rpgrip1l |
Rpgrip1-like |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17558407 PMID:17558409 |
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NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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Rsph1 |
radial spoke head component 1 |
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ISO |
ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME |
ClinVar |
PMID:23993197 PMID:24518672 PMID:24568568 PMID:25741868 PMID:25789548 PMID:28492532 More...
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NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640
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Pkhd1 |
PKHD1 ciliary IPT domain containing fibrocystin/polyductin |
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ISO |
ClinVar Annotator: match by term: Cystic dilatation of the intrahepatic biliary tree |
ClinVar |
PMID:1189128 PMID:11898128 PMID:12874454 PMID:15698423 PMID:15805161 PMID:16133180 PMID:19914852 PMID:20413436 PMID:25701400 PMID:25741868 PMID:26695994 PMID:27151922 PMID:27225849 PMID:27894351 PMID:28492532 PMID:29068549 PMID:31130284 PMID:31844813 PMID:31980526 PMID:32359821 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32799815 PMID:35715958 More...
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NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381
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Ahi1 |
Abelson helper integration site 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:15322546 PMID:16155189 PMID:16199547 PMID:16453322 PMID:17377524 PMID:17409309 PMID:21068128 PMID:22693042 PMID:24690944 PMID:25356976 PMID:25741868 PMID:26035799 PMID:26035800 PMID:26092869 PMID:26541515 PMID:26729329 PMID:27434533 PMID:28041643 PMID:28125082 PMID:28431631 PMID:28442542 PMID:28492532 PMID:28497568 PMID:29146704 PMID:29186038 PMID:29343940 PMID:31624253 PMID:34627237 More...
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NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
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Arl13b |
ADP-ribosylation factor like GTPase 13B |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:18674751 PMID:23150559 PMID:23153492 PMID:25741868 PMID:26092869 PMID:27153923 PMID:28492532 PMID:31846650 PMID:34447983 More...
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NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197
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B9d1 |
B9 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:9536098 PMID:17576681 PMID:24886560 PMID:25741868 PMID:26092869 PMID:28492532 PMID:32622957 PMID:34906502 More...
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NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
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B9d2 |
B9 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:21763481 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 PMID:33234550 More...
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NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
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C2cd3 |
C2 domain containing 3 centriole elongation regulator |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:24997988 PMID:26092869 |
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NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520
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Cc2d2a |
coiled-coil and C2 domain containing 2A |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:3631907 PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18513680 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:21068128 PMID:21370303 PMID:21866095 PMID:22241855 PMID:22246503 PMID:22425360 PMID:22995991 PMID:23012439 PMID:23351400 PMID:23692786 PMID:24033266 PMID:24360807 PMID:24706459 PMID:25326637 PMID:25525159 PMID:25741868 PMID:26062849 PMID:26092869 PMID:26310553 PMID:26467025 PMID:26477546 PMID:26485645 PMID:26673778 PMID:26729329 PMID:26862157 PMID:27081510 PMID:27082236 PMID:27848944 PMID:27854218 PMID:27894351 PMID:27959436 PMID:28125082 PMID:28492532 PMID:28497568 PMID:28518168 PMID:29039169 PMID:29146704 PMID:29165578 PMID:29620724 PMID:30055837 PMID:30091983 PMID:30267408 PMID:31618753 PMID:31680349 PMID:31738409 PMID:31964843 PMID:32165824 PMID:32461654 PMID:32488064 PMID:34182252 PMID:34194672 PMID:34906502 More...
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NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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Cep104 |
centrosomal protein 104 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:26477546 PMID:28492532 PMID:35372954 |
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NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248
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Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19764032 PMID:19959640 PMID:20079931 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22334370 PMID:22355252 PMID:22693042 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24474277 PMID:25097241 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26062849 PMID:26092869 PMID:26467025 PMID:26529047 PMID:26673778 PMID:27208204 PMID:27353947 PMID:27422788 PMID:28041643 PMID:28157192 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:29146704 PMID:29178642 PMID:29217415 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29641573 PMID:29754767 PMID:29844330 PMID:29974258 PMID:30190494 PMID:30193310 PMID:30559420 PMID:30718709 PMID:30902645 PMID:31054281 PMID:31091803 PMID:31411728 PMID:31630094 PMID:31734136 PMID:31877679 PMID:31884610 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32165824 PMID:32208788 PMID:32600475 PMID:32856788 PMID:32865313 PMID:33105651 PMID:33308271 PMID:33502066 PMID:33532864 PMID:33546218 PMID:33574314 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34196655 PMID:34906470 PMID:35764379 PMID:36909829 More...
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NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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Cplane1 |
ciliogenesis and planar polarity effector complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:10488899 PMID:20301500 PMID:21679365 PMID:22236771 PMID:22425360 PMID:23012439 PMID:24178751 PMID:25407461 PMID:25533962 PMID:25741868 PMID:25846457 PMID:25877302 PMID:26092869 PMID:28087721 PMID:28125082 PMID:28431631 PMID:28492532 PMID:29146704 PMID:29605658 PMID:34091942 More...
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NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
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Fto |
FTO, alpha-ketoglutarate dependent dioxygenase |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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Inpp5e |
inositol polyphosphate-5-phosphatase E |
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ISO |
DNA:missense mutations, nonsense mutation:exon:multiple ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar RGD |
PMID:15786477 PMID:19668216 PMID:23034536 PMID:23386033 PMID:25741868 PMID:26092869 PMID:26748598 PMID:27401686 PMID:28125082 PMID:28492532 PMID:28559085 PMID:29146704 PMID:29186038 PMID:29230161 PMID:29987673 PMID:30202406 PMID:31456290 PMID:33749171 PMID:34188062 PMID:23386033 More...
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RGD:12911208 |
NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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Kiaa0586 |
KIAA0586 homolog |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:20301500 PMID:24033266 PMID:25741868 PMID:26026149 PMID:26096313 PMID:26166481 PMID:26386044 PMID:26386247 PMID:26437029 PMID:28125082 PMID:28492532 PMID:28497568 PMID:29068549 PMID:30120217 PMID:32381069 PMID:32581362 More...
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NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
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Kif14 |
kinesin family member 14 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:16199547 PMID:23308235 PMID:25741868 PMID:28492532 PMID:29343805 PMID:30388224 More...
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NCBI chr13:47,926,975...47,990,598
Ensembl chr13:47,927,044...47,989,164
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Lrrcc1 |
leucine rich repeat and coiled-coil centrosomal protein 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:25741868 |
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NCBI chr 2:87,025,671...87,060,313
Ensembl chr 2:87,025,598...87,060,294
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Mks1 |
MKS transition zone complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17437276 PMID:17576681 PMID:17935508 PMID:18327255 PMID:19430481 PMID:19466712 PMID:20301500 PMID:21068128 PMID:21228398 PMID:21258341 PMID:22353939 PMID:23169490 PMID:23351400 PMID:23602711 PMID:23736532 PMID:24033266 PMID:24608809 PMID:24886560 PMID:25741868 PMID:26092869 PMID:26490104 PMID:26862157 PMID:27353947 PMID:27377014 PMID:27570071 PMID:28224992 PMID:28492532 PMID:28497568 PMID:28771248 PMID:29620724 PMID:30076350 PMID:30679815 PMID:30718709 PMID:30902645 PMID:31191208 PMID:31456290 PMID:33193692 PMID:33584783 PMID:34008892 PMID:34359301 PMID:34582790 More...
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NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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Nphp1 |
nephrocystin 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:16199547 PMID:23559409 PMID:25741868 PMID:28002029 PMID:28492532 PMID:34090716 More...
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NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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Nphp3 |
nephrocystin 3 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:18371931 PMID:19303681 PMID:23559409 PMID:25741868 PMID:26184788 PMID:28492532 PMID:28921755 PMID:31131822 PMID:32040628 PMID:32173348 PMID:33323469 PMID:34031707 More...
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NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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Ofd1 |
Ofd1 centriole and centriolar satellite protein |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:9536098 PMID:11179005 PMID:12595504 PMID:16199547 PMID:16311594 PMID:16783569 PMID:17576681 PMID:18414213 PMID:18546297 PMID:23033313 PMID:24476948 PMID:24884629 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26477546 PMID:27081566 PMID:28492532 More...
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NCBI chr X:28,015,347...28,056,115
Ensembl chr X:28,015,347...28,056,110
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Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 PMID:29588463 PMID:30193310 PMID:34196655 More...
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NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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Rpgrip1l |
Rpgrip1-like |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:20301500 PMID:21068128 PMID:21866095 PMID:25741868 PMID:26092869 PMID:27434533 PMID:28492532 PMID:28771248 PMID:31390572 PMID:31964843 PMID:31980526 PMID:35858853 More...
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NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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Tctn1 |
tectonic family member 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:16199547 PMID:21725307 PMID:22693042 PMID:25741868 PMID:27894351 PMID:28492532 More...
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NCBI chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267
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Tctn2 |
tectonic family member 2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:16199547 PMID:21462283 PMID:21565611 PMID:23169490 PMID:25118024 PMID:25741868 PMID:26092869 PMID:26729329 PMID:27894351 PMID:28492532 PMID:28771248 PMID:31428121 PMID:32552793 More...
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NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
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Tctn3 |
tectonic family member 3 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:2692869 PMID:16199547 PMID:22883145 PMID:25118024 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:239,414,003...239,425,273
Ensembl chr 1:239,415,203...239,425,272
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Tmem138 |
transmembrane protein 138 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:9536098 PMID:17576681 PMID:22282472 PMID:27081510 PMID:28102635 PMID:28492532 More...
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NCBI chr 1:207,219,113...207,226,159
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Tmem216 |
transmembrane protein 216 |
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ISO |
DNA:missense mutation:exon:c.218G>T(p.R73L)(human) ClinVar Annotator: match by term: Joubert syndrome |
ClinVar RGD |
PMID:20036350 PMID:20301500 PMID:20512146 PMID:22282472 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26673778 PMID:28492532 PMID:28497568 PMID:20512146 More...
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RGD:11067331 |
NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754
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Tmem218 |
transmembrane protein 218 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:33791682 |
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NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
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Tmem231 |
transmembrane protein 231 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23012439 PMID:23169490 PMID:23349226 PMID:25741868 PMID:25869670 PMID:26123494 PMID:26489029 PMID:27449316 PMID:27711071 PMID:28492532 PMID:32055034 PMID:32386258 PMID:32552793 PMID:34354814 PMID:35456422 More...
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NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269
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Tmem237 |
transmembrane protein 237 |
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ISO |
DNA:nonsense,transition mutations:cds,splice junction: ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar RGD |
PMID:16199547 PMID:17603801 PMID:22152675 PMID:22981120 PMID:25741868 PMID:26673778 PMID:28492532 PMID:31019026 PMID:31710777 PMID:34839509 PMID:22152675 More...
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RGD:11561921 |
NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
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Tmem67 |
transmembrane protein 67 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:2929661 PMID:9375913 PMID:9536098 PMID:16199547 PMID:16541367 PMID:17160906 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21493627 PMID:21633164 PMID:21866095 PMID:22700954 PMID:23034536 PMID:23351400 PMID:23559409 PMID:24039893 PMID:25326635 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26123494 PMID:26191240 PMID:26546361 PMID:26729329 PMID:28125082 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28973083 PMID:29127258 PMID:29146704 PMID:29891882 PMID:29947050 PMID:32000717 PMID:34675960 PMID:34964473 PMID:36703223 More...
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NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Zic1 |
Zic family member 1 |
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ISS |
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MouseDO |
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NCBI chr 8:91,908,548...91,918,020
Ensembl chr 8:91,908,576...91,912,731
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Abca2 |
ATP binding cassette subfamily A member 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,244,515...8,264,545
Ensembl chr 3:8,244,639...8,264,537
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Agpat2 |
1-acylglycerol-3-phosphate O-acyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,416,837...9,428,567
Ensembl chr 3:9,416,843...9,428,371
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Ahi1 |
Abelson helper integration site 1 |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:15322546 PMID:15467982 PMID:16155189 PMID:16199547 PMID:16453322 PMID:16541367 PMID:17377524 PMID:17409309 PMID:17576681 PMID:18054307 PMID:18414213 PMID:20301500 PMID:21068128 PMID:21623382 PMID:21866095 PMID:21937992 PMID:22236771 PMID:22693042 PMID:22773737 PMID:23532844 PMID:24033266 PMID:24690944 PMID:25326637 PMID:25356976 PMID:25445212 PMID:25525159 PMID:25616960 PMID:25640679 PMID:25741868 PMID:25741913 PMID:25741916 PMID:25920555 PMID:26035799 PMID:26035800 PMID:26092869 PMID:26467025 PMID:26541515 PMID:26729329 PMID:26759440 PMID:27434533 PMID:28041643 PMID:28097321 PMID:28118669 PMID:28125082 PMID:28431631 PMID:28442542 PMID:28492532 PMID:28497568 PMID:29186038 PMID:29343940 PMID:30055837 PMID:30755392 PMID:31054281 PMID:31069529 PMID:31319225 PMID:31624253 PMID:32165824 PMID:32335874 PMID:32865313 PMID:33879512 PMID:33921607 PMID:34191236 PMID:34205586 PMID:34627237 PMID:34906502 PMID:36819107 More...
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NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
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Ajm1 |
apical junction component 1 homolog |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,394,942...8,401,323
Ensembl chr 3:8,392,889...8,401,321
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Akap1 |
A-kinase anchoring protein 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,621,021...73,654,123
Ensembl chr10:73,621,883...73,653,896
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Aldh3a2 |
aldehyde dehydrogenase 3 family, member A2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,928,313...45,949,366
Ensembl chr10:45,908,524...45,949,281
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Alkbh5 |
alkB homolog 5, RNA demethylase |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,344,888...45,366,331
Ensembl chr10:45,343,395...45,366,331
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Anapc2 |
anaphase promoting complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178
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Appbp2 |
amyloid beta precursor protein binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:70,057,774...70,099,877
Ensembl chr10:70,057,774...70,099,835
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Arl13b |
ADP-ribosylation factor like GTPase 13B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:18674751 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197
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Armc9 |
armadillo repeat containing 9 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28625504 PMID:31474318 |
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NCBI chr 9:86,802,791...86,928,611
Ensembl chr 9:86,802,868...86,928,860
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Arrdc1 |
arrestin domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,735,002...7,742,195
Ensembl chr 3:7,735,011...7,742,197
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Atp6v0a2 |
ATPase H+ transporting V0 subunit a2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:31,947,220...31,979,875
Ensembl chr12:31,822,733...32,007,069
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Atpaf2 |
ATP synthase mitochondrial F1 complex assembly factor 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,205,658...45,221,891
Ensembl chr10:45,197,441...45,221,026
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B9d1 |
B9 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Familial aplasia of the vermis ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:16007087 PMID:16199547 PMID:17576681 PMID:21493627 PMID:24886560 PMID:25741868 PMID:25920555 PMID:26092869 PMID:26477546 PMID:27123465 PMID:28492532 PMID:32622957 PMID:34906502 More...
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NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
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B9d2 |
B9 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:21763481 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 PMID:33234550 More...
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NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
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Bcas3 |
BCAS3, microtubule associated cell migration factor |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:70,213,710...70,673,080
Ensembl chr10:70,214,098...70,673,080
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Brip1 |
BRCA1 interacting helicase 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
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Bst1 |
bone marrow stromal cell antigen 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr14:67,253,706...67,270,203
Ensembl chr14:67,252,998...67,270,180
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C10h17orf67 |
similar to human chromosome 17 open reading frame 67 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,895,343...73,916,133
Ensembl chr10:73,895,343...73,916,133
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C2cd3 |
C2 domain containing 3 centriole elongation regulator |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:24997988 PMID:25741868 PMID:26092869 |
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NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520
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C7h12orf50 |
similar to human chromosome 12 open reading frame 50 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 |
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NCBI chr 7:35,406,147...35,443,324
Ensembl chr 7:35,411,555...35,443,320
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C8g |
complement C8 gamma chain |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,320,503...8,322,087
Ensembl chr 3:8,305,920...8,323,495
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Cacna1b |
calcium voltage-gated channel subunit alpha1 B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,380,892...7,546,104
Ensembl chr 3:7,380,922...7,546,091
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Camsap1 |
calmodulin regulated spectrin-associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,746,176...8,806,067
Ensembl chr 3:8,746,176...8,806,072
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Car4 |
carbonic anhydrase 4 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:69,827,945...69,836,501
Ensembl chr10:69,827,945...69,836,501
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Card9 |
caspase recruitment domain family, member 9 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237
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Cby1 |
chibby 1, beta catenin antagonist |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:33131181 |
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NCBI chr 7:111,216,835...111,223,305
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Cc2d2a |
coiled-coil and C2 domain containing 2A |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:3631907 PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18513680 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19763152 PMID:19777577 PMID:20307669 PMID:21068128 PMID:21370303 PMID:21866095 PMID:22241855 PMID:22246503 PMID:22406018 PMID:22425360 PMID:22995991 PMID:23012439 PMID:23351400 PMID:23692786 PMID:24033266 PMID:24360807 PMID:24706459 PMID:25525159 PMID:25741868 PMID:25920555 PMID:26003401 PMID:26062849 PMID:26092869 PMID:26310553 PMID:26467025 PMID:26477546 PMID:26485645 PMID:26633542 PMID:26673778 PMID:26729329 PMID:26862157 PMID:27081510 PMID:27082236 PMID:27848944 PMID:27894351 PMID:27959436 PMID:28125082 PMID:28492532 PMID:28497568 PMID:28518168 PMID:29039169 PMID:29146704 PMID:29165578 PMID:29620724 PMID:29987673 PMID:30055837 PMID:30091983 PMID:30202406 PMID:30267408 PMID:31130284 PMID:31577543 PMID:31618753 PMID:31680349 PMID:31738409 PMID:31964843 PMID:32165824 PMID:32461654 PMID:32488064 PMID:33486889 PMID:33502066 PMID:34182252 PMID:34194672 PMID:34645488 PMID:34821546 PMID:34906502 PMID:35858853 PMID:38259611 More...
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NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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Ccdc183 |
coiled-coil domain containing 183 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,428,784...8,438,948
Ensembl chr 3:8,428,787...8,437,194
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Cd38 |
CD38 molecule |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr14:67,172,062...67,212,328
Ensembl chr14:67,172,063...67,211,986
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Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17617513 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19763152 PMID:19764032 PMID:19959640 PMID:20079931 PMID:20130272 PMID:20301475 PMID:20307669 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21786365 PMID:21866095 PMID:22334370 PMID:22355252 PMID:22406018 PMID:22446187 PMID:22693042 PMID:22699515 PMID:23027964 PMID:23034536 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23661368 PMID:23847139 PMID:23954617 PMID:24265693 PMID:24474277 PMID:24850569 PMID:25097241 PMID:25324289 PMID:25326637 PMID:25356976 PMID:25377065 PMID:25439097 PMID:25445212 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26062849 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26529047 PMID:26667666 PMID:26673778 PMID:27032803 PMID:27208204 PMID:27353947 PMID:27375279 PMID:27422788 PMID:27434533 PMID:27491411 PMID:27821535 PMID:27848944 PMID:27894351 PMID:28041643 PMID:28127548 PMID:28157192 PMID:28224992 PMID:28418496 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28510626 PMID:28559085 PMID:28660274 PMID:28771248 PMID:28829391 PMID:28844315 PMID:28912962 PMID:28966547 PMID:28973549 PMID:29053603 PMID:29146704 PMID:29178642 PMID:29186038 PMID:29217415 PMID:29261186 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29620724 PMID:29641573 PMID:29754767 PMID:29771326 PMID:29844330 PMID:29970488 PMID:29974258 PMID:30190494 PMID:30193310 PMID:30559420 PMID:30718709 PMID:30776697 PMID:30879067 PMID:30897646 PMID:30902645 PMID:31054281 PMID:31091803 PMID:31411728 PMID:31456290 PMID:31624253 PMID:31630094 PMID:31680349 PMID:31734136 PMID:31816670 PMID:31840411 PMID:31877679 PMID:31884610 PMID:31964843 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32165824 PMID:32208788 PMID:32386258 PMID:32581362 PMID:32600475 PMID:32619255 PMID:32856788 PMID:32864857 PMID:32865313 PMID:33105651 PMID:33249554 PMID:33308271 PMID:33502066 PMID:33532864 PMID:33546218 PMID:33574314 PMID:33576794 PMID:33726816 PMID:33886416 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34031707 PMID:34096792 PMID:34196655 PMID:34321860 PMID:34795310 PMID:34821546 PMID:34906470 PMID:35005812 PMID:35314707 PMID:35764379 PMID:35836572 PMID:36460718 PMID:36493848 PMID:36729443 PMID:36909829 PMID:36990420 PMID:37008293 PMID:37510321 More...
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NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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Cep41 |
centrosomal protein 41 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 4:59,271,218...59,312,343
Ensembl chr 4:59,271,218...59,310,668
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G |
Chct1 |
CHD1 helical C-terminal domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:70,039,510...70,051,556
Ensembl chr10:70,039,680...70,051,542
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G |
Cimip2a |
ciliary microtubule inner protein 2A |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,030,548...8,038,370
Ensembl chr 3:8,033,246...8,037,961
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Clic3 |
chloride intracellular channel 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,271,416...8,274,023
Ensembl chr 3:8,272,097...8,274,018
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G |
Cltc |
clathrin heavy chain |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,517,661...71,574,591
Ensembl chr10:71,517,663...71,573,737
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G |
Cluap1 |
clusterin associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 PMID:28679688 |
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NCBI chr10:11,587,963...11,619,711
Ensembl chr10:11,588,017...11,619,711
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G |
Coil |
coilin |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,789,077...73,810,378
Ensembl chr10:73,789,488...73,810,393
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G |
Cops3 |
COP9 signalosome subunit 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:44,618,115...44,652,807
Ensembl chr10:44,618,115...44,641,597
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G |
Cplane1 |
ciliogenesis and planar polarity effector complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:10488899 PMID:16199547 PMID:20301500 PMID:22425360 PMID:24033266 PMID:24178751 PMID:25741868 PMID:25877302 PMID:26092869 PMID:28492532 More...
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NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
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G |
Cpsf7 |
cleavage and polyadenylation specific factor 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:207,167,690...207,191,938
Ensembl chr 1:207,167,859...207,191,905
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G |
Cuedc1 |
CUE domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,892,637...72,986,546
Ensembl chr10:72,892,637...72,986,542
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G |
Cyb561a3 |
cytochrome b561 family, member A3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
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NCBI chr 1:207,216,185...207,237,575
Ensembl chr 1:207,226,230...207,237,571
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G |
Cysrt1 |
cysteine rich tail 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,054,195...8,057,846
Ensembl chr 3:8,053,482...8,059,721
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G |
Dgke |
diacylglycerol kinase epsilon |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,853,030...73,877,334
Ensembl chr10:73,855,583...73,877,100
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G |
Dhx40 |
DEAH-box helicase 40 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,584,546...71,621,479
Ensembl chr10:71,583,716...71,621,445
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G |
Dipk1b |
divergent protein kinase domain 1B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,455,914...9,464,169
Ensembl chr 3:9,456,409...9,464,161
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G |
Dnlz |
DNL-type zinc finger |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,169,948...9,171,727
Ensembl chr 3:9,169,793...9,180,551
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G |
Dph7 |
diphthamide biosynthesis 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,770,368...7,778,994
Ensembl chr 3:7,770,379...7,778,982
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G |
Dpp7 |
dipeptidylpeptidase 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,165,091...8,169,343
Ensembl chr 3:8,165,091...8,169,355
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G |
Drc3 |
dynein regulatory complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,149,094...45,200,659
Ensembl chr10:45,157,354...45,199,369
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G |
Drg2 |
developmentally regulated GTP binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,255,512...45,269,971
Ensembl chr10:45,255,507...45,269,969
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G |
Dynll2 |
dynein light chain LC8-type 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,767,035...72,785,824
Ensembl chr10:72,767,035...72,785,805
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G |
Edf1 |
endothelial differentiation-related factor 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,377,058...8,381,363
Ensembl chr 3:8,366,613...8,381,363
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G |
Egfl6 |
EGF-like-domain, multiple 6 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 PMID:28492532 More...
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NCBI chr X:27,884,087...27,942,044
Ensembl chr X:27,884,125...27,942,044
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G |
Egfl7 |
EGF-like-domain, multiple 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,404,622...9,416,879
Ensembl chr 3:9,407,520...9,416,879
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G |
Ehmt1 |
euchromatic histone lysine methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007
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G |
Eif2b1 |
eukaryotic translation initiation factor 2B subunit alpha |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr12:32,025,593...32,033,848
Ensembl chr12:32,025,557...32,046,601
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G |
Entpd2 |
ectonucleoside triphosphate diphosphohydrolase 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866
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G |
Entpd8 |
ectonucleoside triphosphate diphosphohydrolase 8 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,885,277...7,895,517
Ensembl chr 3:7,889,909...7,895,296
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G |
Entr1 |
endosome associated trafficking regulator 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688
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G |
Epn2 |
epsin 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:46,197,785...46,259,673
Ensembl chr10:46,197,785...46,259,642
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G |
Epx |
eosinophil peroxidase |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,666,865...72,677,952
Ensembl chr10:72,666,865...72,677,952
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G |
Exoc8 |
exocyst complex component 8 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:22700954 |
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NCBI chr19:52,855,010...52,857,499
Ensembl chr19:52,852,578...52,857,491
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G |
Fam149b1 |
family with sequence similarity 149, member B1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:30905400 |
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NCBI chr15:3,929,190...3,967,140
Ensembl chr15:3,929,190...3,966,997
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G |
Fam83g |
family with sequence similarity 83, member G |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:46,363,029...46,388,030
Ensembl chr10:46,363,051...46,388,019
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G |
Fbxl5 |
F-box and leucine-rich repeat protein 5 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr14:67,305,109...67,347,383
Ensembl chr14:67,267,801...67,347,383
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G |
Fbxw10 |
F-box and WD repeat domain containing 10 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:47,513,313...47,551,909
Ensembl chr10:47,486,297...47,551,907
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G |
Fbxw5 |
F-box and WD repeat domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,322,543...8,327,092
Ensembl chr 3:8,322,543...8,327,092
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G |
Fgfbp1 |
fibroblast growth factor binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr14:67,103,686...67,107,492
Ensembl chr14:67,104,545...67,107,496
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G |
Flcn |
folliculin |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769
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G |
Flii |
FLII, actin remodeling protein |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,394,032...45,408,051
Ensembl chr10:45,394,032...45,407,970
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G |
Fto |
FTO, alpha-ketoglutarate dependent dioxygenase |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:17558409 PMID:28492532 |
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NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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G |
Fut7 |
fucosyltransferase 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,237,687...8,242,273
Ensembl chr 3:8,239,384...8,242,260
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G |
Gdpd1 |
glycerophosphodiester phosphodiesterase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,840,497...71,883,936
Ensembl chr10:71,840,497...71,883,850
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G |
Gid4 |
GID complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,221,556...45,247,627
Ensembl chr10:45,245,754...45,247,621 Ensembl chr10:45,245,754...45,247,621
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G |
Glt6d1 |
glycosyltransferase 6 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,627,793...8,638,537
Ensembl chr 3:8,627,911...8,636,335
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G |
Gpsm1 |
G-protein signaling modulator 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,140,816...9,167,828
Ensembl chr 3:9,128,636...9,167,827
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G |
Grap |
GRB2-related adaptor protein |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:46,298,965...46,352,057
Ensembl chr10:46,332,909...46,352,056
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G |
Grin1 |
glutamate ionotropic receptor NMDA type subunit 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,103,680...8,130,603
Ensembl chr 3:8,103,680...8,130,603
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G |
Gtf2h3 |
general transcription factor IIH subunit 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr12:32,009,010...32,025,484
Ensembl chr12:32,009,014...32,025,497
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G |
Heatr6 |
HEAT repeat containing 6 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:68,635,048...68,665,445
Ensembl chr10:68,635,065...68,664,105
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G |
Hsf5 |
heat shock transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,417,216...72,460,394
Ensembl chr10:72,417,298...72,460,406
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G |
Ift172 |
intraflagellar transport 172 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:24140113 PMID:25741868 PMID:26092869 |
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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 |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:10577920 PMID:15786477 PMID:16025100 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19597493 PMID:19668215 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:23847139 PMID:24257694 PMID:25132448 PMID:25133751 PMID:25516202 PMID:25741868 PMID:25818971 PMID:25920555 PMID:25963545 PMID:25999675 PMID:26075876 PMID:26092869 PMID:26748598 PMID:26820064 PMID:27081510 PMID:27353947 PMID:27401686 PMID:28125082 PMID:28454995 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28771248 PMID:29052317 PMID:29146704 PMID:29186038 PMID:29230161 PMID:29555955 PMID:29915382 PMID:29987673 PMID:30202406 PMID:31456290 PMID:31506345 PMID:31589614 PMID:32304219 PMID:32483926 PMID:33270637 PMID:33749171 PMID:34188062 PMID:36460718 More...
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NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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G |
Irx3 |
iroquois homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:17558409 PMID:28492532 |
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NCBI chr19:15,211,882...15,215,317
Ensembl chr19:15,211,878...15,215,317
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G |
Irx5 |
iroquois homeobox 5 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:17558409 PMID:28492532 |
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NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318
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G |
Irx6 |
iroquois homeobox 6 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:17558409 PMID:28492532 |
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NCBI chr19:14,330,440...14,336,403
Ensembl chr19:14,330,440...14,336,403
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G |
Katnip |
katanin interacting protein |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:25741868 PMID:26714646 PMID:28492532 |
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NCBI chr 1:180,270,194...180,436,766
Ensembl chr 1:180,269,929...180,436,766
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Kcnt1 |
potassium sodium-activated channel subfamily T member 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,682,964...8,736,615
Ensembl chr 3:8,682,113...8,736,667
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Kiaa0586 |
KIAA0586 homolog |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:20301500 PMID:24033266 PMID:25741868 PMID:26026149 PMID:26096313 PMID:26166481 PMID:26386044 PMID:26386247 PMID:26437029 PMID:28125082 PMID:28492532 PMID:29068549 PMID:30120217 PMID:32381069 PMID:32581362 More...
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NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
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Kif7 |
kinesin family member 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:21633164 PMID:25741868 PMID:28492532 |
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NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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Kitlg |
KIT ligand |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 |
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NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214
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G |
Lcn1 |
lipocalin 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,532,860...9,537,859
Ensembl chr 3:9,532,915...9,536,577
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Lcn10 |
lipocalin 10 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,490,781...8,494,334
Ensembl chr 3:8,490,781...8,494,333
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Lcn12 |
lipocalin 12 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,312,412...8,315,392
Ensembl chr 3:8,305,920...8,323,495
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Lcn6 |
lipocalin 6 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,484,013...8,489,577
Ensembl chr 3:8,484,013...8,489,574
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Lcn8 |
lipocalin 8 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,467,934...8,473,691
Ensembl chr 3:8,467,934...8,470,918
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Lcn9 |
lipocalin 9 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,644,427...8,646,782
Ensembl chr 3:8,636,548...8,652,200
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Lhx3 |
LIM homeobox 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480
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Llgl1 |
LLGL scribble cell polarity complex component 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,379,423...45,394,096
Ensembl chr10:45,379,515...45,394,094
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Lpo |
lactoperoxidase |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,606,950...72,626,220
Ensembl chr10:72,606,944...72,626,535
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Lrrc26 |
leucine rich repeat containing 26 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,102,361...8,103,687
Ensembl chr 3:8,102,361...8,103,687
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Lrrc34 |
leucine rich repeat containing 34 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
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NCBI chr 2:112,752,294...112,774,463
Ensembl chr 2:112,754,578...112,774,459
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Mamdc4 |
MAM domain containing 4 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,382,387...8,391,003
Ensembl chr 3:8,382,387...8,391,003
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Man1b1 |
mannosidase, alpha, class 1B, member 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,143,877...8,165,007
Ensembl chr 3:8,143,381...8,165,006
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Mapk7 |
mitogen-activated protein kinase 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:46,170,264...46,176,262
Ensembl chr10:46,170,167...46,176,267
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Med9 |
mediator complex subunit 9 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:44,750,667...44,765,464
Ensembl chr10:44,750,698...44,765,464
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G |
Mfap4 |
microfibril associated protein 4 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:46,167,158...46,170,176
Ensembl chr10:46,167,217...46,170,155
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G |
Micall2 |
MICAL-like 2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
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NCBI chr12:14,899,188...14,927,949
Ensembl chr12:14,899,157...14,927,946
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G |
Mief2 |
mitochondrial elongation factor 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,408,055...45,414,144
Ensembl chr10:45,408,082...45,414,144
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Mir126a |
microRNA 126a |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,415,063...9,415,180
Ensembl chr 3:9,415,063...9,415,180
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Mir21 |
microRNA 21 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mks1 |
MKS transition zone complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17437276 PMID:17576681 PMID:17935508 PMID:18327255 PMID:19430481 PMID:19466712 PMID:19763152 PMID:20301500 PMID:20307669 PMID:21068128 PMID:21228398 PMID:21258341 PMID:22353939 PMID:22406018 PMID:23169490 PMID:23351400 PMID:23602711 PMID:23736532 PMID:24033266 PMID:24608809 PMID:24886560 PMID:25363768 PMID:25741868 PMID:25966130 PMID:26092869 PMID:26490104 PMID:26862157 PMID:27353947 PMID:27377014 PMID:27570071 PMID:28224992 PMID:28492532 PMID:28497568 PMID:28771248 PMID:29620724 PMID:30055837 PMID:30076350 PMID:30679815 PMID:30718709 PMID:30902645 PMID:31191208 PMID:31456290 PMID:31964843 PMID:33193692 PMID:33584783 PMID:34008892 PMID:34011629 PMID:34359301 PMID:34582790 PMID:35360848 PMID:35587316 More...
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NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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G |
Mmp2 |
matrix metallopeptidase 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:17558409 PMID:28492532 |
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NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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G |
Mpo |
myeloperoxidase |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819
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G |
Mprip |
myosin phosphatase Rho interacting protein |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:44,453,949...44,573,843
Ensembl chr10:44,453,929...44,569,118
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G |
Mrpl41 |
mitochondrial ribosomal protein L41 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,780,658...7,781,576
Ensembl chr 3:7,779,143...7,782,818
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G |
Mrps2 |
mitochondrial ribosomal protein S2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:11,803,044...11,806,341
Ensembl chr 3:11,801,310...11,806,313
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Mrps23 |
mitochondrial ribosomal protein S23 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,999,033...73,006,791
Ensembl chr10:72,998,497...73,006,264
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G |
Msi2 |
musashi RNA-binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,143,760...73,510,566
Ensembl chr10:73,147,380...73,510,157
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G |
Mtmr4 |
myotubularin related protein 4 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,393,411...72,416,342
Ensembl chr10:72,392,551...72,416,342
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Myo15a |
myosin XVA |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
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G |
Nacc2 |
NACC family member 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,879,952...8,946,660
Ensembl chr 3:8,883,065...8,946,660
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Ndor1 |
NADPH dependent diflavin oxidoreductase 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,062,629...8,070,873
Ensembl chr 3:8,062,630...8,070,860
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Nelfb |
negative elongation factor complex member B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,010,883...8,027,403
Ensembl chr 3:8,010,888...8,027,403
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Nog |
noggin |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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Notch1 |
notch receptor 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Noxa1 |
NADPH oxidase activator 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,895,488...7,907,011
Ensembl chr 3:7,895,488...7,905,967
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G |
Npdc1 |
neural proliferation, differentiation and control, 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,220,446...8,226,446
Ensembl chr 3:8,213,663...8,226,866
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G |
Nphp1 |
nephrocystin 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 |
ClinVar |
PMID:24746959 PMID:25741868 PMID:28492532 |
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NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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G |
Nrarp |
Notch-regulated ankyrin repeat protein |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,992,582...7,995,136
Ensembl chr 3:7,992,552...7,995,133
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G |
Nsmf |
NMDA receptor synaptonuclear signaling and neuronal migration factor |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,861,846...7,870,615
Ensembl chr 3:7,861,872...7,870,614
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G |
Nt5m |
5',3'-nucleotidase, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:44,652,845...44,680,549
Ensembl chr10:44,652,975...44,679,150
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G |
Obp2a |
odorant binding protein 2A |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,505,963...8,509,269
Ensembl chr 3:8,505,990...8,509,269
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G |
Ofd1 |
Ofd1 centriole and centriolar satellite protein |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:11179005 PMID:11349230 PMID:12595504 PMID:16199547 PMID:16311594 PMID:16783569 PMID:17576681 PMID:18414213 PMID:18546297 PMID:19800048 PMID:22353940 PMID:23033313 PMID:24476948 PMID:24884629 PMID:25674159 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26477546 PMID:27081566 PMID:28289185 PMID:28371265 PMID:28492532 PMID:28831199 PMID:29843741 PMID:30401917 PMID:33825116 PMID:34440443 PMID:35112477 PMID:35728977 More...
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NCBI chr X:28,015,347...28,056,115
Ensembl chr X:28,015,347...28,056,110
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G |
Olr1523 |
olfactory receptor 1523 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,708,272...72,709,213
Ensembl chr10:72,707,063...72,715,311
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G |
Or4d2b |
olfactory receptor family 4 subfamily D member 2B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,693,014...72,693,949
Ensembl chr10:72,689,839...72,696,182
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Paep |
progestagen associated endometrial protein |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,531,136...8,534,430
Ensembl chr 3:8,531,138...8,534,430
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G |
Paxx |
PAXX, non-homologous end joining factor |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,274,762...8,276,322
Ensembl chr 3:8,274,762...8,276,521
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Pdp1 |
pyruvate dehydrogenase phosphatase catalytic subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:20232449 PMID:23559409 PMID:28492532 |
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NCBI chr 5:25,446,843...25,455,107
Ensembl chr 5:25,446,272...25,455,217
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G |
Pdpr |
pyruvate dehydrogenase phosphatase regulatory subunit |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25558065 PMID:27894351 |
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NCBI chr19:39,065,226...39,109,695
Ensembl chr19:39,065,157...39,109,688
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G |
Pemt |
phosphatidylethanolamine N-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013
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G |
Phpt1 |
phosphohistidine phosphatase 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,392,926...8,394,325
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Pibf1 |
progesterone immunomodulatory binding factor 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 PMID:26167768 PMID:28492532 |
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NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712
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G |
Pld6 |
phospholipase D family, member 6 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:44,578,536...44,581,187
Ensembl chr10:44,577,675...44,581,077
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G |
Pmpca |
peptidase, mitochondrial processing subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
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G |
Pnpla7 |
patatin-like phospholipase domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,782,572...7,861,504
Ensembl chr 3:7,782,572...7,861,497
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G |
Ppm1d |
protein phosphatase, Mg2+/Mn2+ dependent, 1D |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:70,172,603...70,208,607
Ensembl chr10:70,172,603...70,208,607
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G |
Ppm1e |
protein phosphatase, Mg2+/Mn2+ dependent, 1E |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:72,051,643...72,187,439
Ensembl chr10:72,055,208...72,187,282
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G |
Prom1 |
prominin 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527
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G |
Prpsap2 |
phosphoribosyl pyrophosphate synthetase-associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:46,410,817...46,445,929
Ensembl chr10:46,410,835...46,445,849
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G |
Prr11 |
proline rich 11 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,898,858...71,943,325
Ensembl chr10:71,901,202...71,921,012
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G |
Ptgds |
prostaglandin D2 synthase |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833
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G |
Ptrh2 |
peptidyl-tRNA hydrolase 2 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,505,113...71,515,297
Ensembl chr10:71,504,956...71,515,398
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G |
Qsox2 |
quiescin sulfhydryl oxidase 2 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,034,994...9,064,649
Ensembl chr 3:9,034,994...9,064,664
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G |
Rab9a |
RAB9A, member RAS oncogene family |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 PMID:28492532 More...
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NCBI chr X:27,955,552...28,009,870
Ensembl chr X:27,952,204...28,001,622
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G |
Rabl6 |
RAB, member RAS oncogene family-like 6 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,402,666...8,428,588
Ensembl chr 3:8,402,672...8,428,611
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G |
Rad51c |
RAD51 paralog C |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,205,032...72,231,643
Ensembl chr10:72,205,032...72,231,248
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G |
Rai1 |
retinoic acid induced 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232
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G |
Rasd1 |
ras related dexamethasone induced 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:44,766,451...44,775,773
Ensembl chr10:44,766,455...44,768,186
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G |
Rcor1 |
REST corepressor 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:26489029 |
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NCBI chr 6:130,069,606...130,146,164
Ensembl chr 6:130,069,392...130,146,153
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G |
Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:9536098 PMID:16682973 PMID:16909394 PMID:17576681 PMID:19764032 PMID:20683928 PMID:21786365 PMID:23954617 PMID:25741868 PMID:27821535 PMID:28492532 PMID:29588463 PMID:30193310 PMID:34196655 More...
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NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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G |
Rnf112 |
ring finger protein 112 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:46,121,146...46,126,691
Ensembl chr10:46,121,148...46,126,699
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G |
Rnf208 |
ring finger protein 208 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,057,808...8,059,721
Ensembl chr 3:8,043,685...8,059,844
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G |
Rnf224 |
ring finger protein 224 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,050,088...8,052,416
Ensembl chr 3:8,051,475...8,051,945
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G |
Rnf43 |
ring finger protein 43 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,461,508...72,537,301
Ensembl chr10:72,464,348...72,536,977
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G |
Rnft1 |
ring finger protein, transmembrane 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,310,052...71,322,507
Ensembl chr10:71,310,104...71,323,778
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G |
Rpgrip1l |
Rpgrip1-like |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:19574260 PMID:19763152 PMID:20301500 PMID:20307669 PMID:21068128 PMID:21866095 PMID:22331178 PMID:22406018 PMID:22693042 PMID:23188109 PMID:23351400 PMID:24033266 PMID:25640679 PMID:25741868 PMID:26092869 PMID:27434533 PMID:27717089 PMID:28378410 PMID:28492532 PMID:28771248 PMID:29343940 PMID:29620724 PMID:29991045 PMID:31328266 PMID:31390572 PMID:31964843 PMID:31980526 PMID:33323469 PMID:34308837 PMID:35233738 PMID:35858853 PMID:36061204 More...
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NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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G |
Rps6kb1 |
ribosomal protein S6 kinase B1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
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G |
Sapcd2 |
suppressor APC domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,186,089...8,195,119
Ensembl chr 3:8,187,266...8,192,546
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G |
Scpep1 |
serine carboxypeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,703,275...73,732,892
Ensembl chr10:73,703,278...73,732,850
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G |
Sdhaf2 |
succinate dehydrogenase complex assembly factor 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:207,139,070...207,167,830
Ensembl chr 1:207,139,112...207,168,616
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G |
Sec16a |
SEC16 homolog A, endoplasmic reticulum export factor |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273
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G |
Septin4 |
septin 4 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:72,366,729...72,390,764
Ensembl chr10:72,366,873...72,390,768
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G |
Shmt1 |
serine hydroxymethyltransferase 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,468,698...45,490,833
Ensembl chr10:45,468,700...45,497,820
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G |
Ska2 |
spindle and kinetochore associated complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:71,921,474...71,939,461
Ensembl chr10:71,921,582...71,939,458
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G |
Slc34a3 |
solute carrier family 34 member 3 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,044,294...8,050,034
Ensembl chr 3:8,044,296...8,049,970
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G |
Slc47a1 |
solute carrier family 47 member 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:46,034,115...46,088,617
Ensembl chr10:46,034,122...46,087,637
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G |
Slc5a10 |
solute carrier family 5 member 10 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:46,352,060...46,400,795
Ensembl chr10:46,352,061...46,399,811
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G |
Smcr8 |
SMCR8-C9orf72 complex subunit |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:45,457,962...45,465,101
Ensembl chr10:45,457,605...45,468,876
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G |
Smg8 |
SMG8 nonsense mediated mRNA decay factor |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:71,886,742...71,895,776
Ensembl chr10:71,886,744...71,895,760
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G |
Snapc4 |
small nuclear RNA activating complex, polypeptide 4 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:9,182,061...9,200,819
Ensembl chr 3:9,182,067...9,199,518
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G |
Sohlh1 |
spermatogenesis and oogenesis specific basic helix-loop-helix 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,662,995...8,667,521
Ensembl chr 3:8,663,318...8,667,388
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G |
Srebf1 |
sterol regulatory element binding transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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G |
Srsf1 |
serine and arginine rich splicing factor 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336
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G |
Ssna1 |
SS nuclear autoantigen 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,084,949...8,086,417
Ensembl chr 3:8,084,974...8,086,356
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G |
Stpg3 |
sperm-tail PG-rich repeat containing 3 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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|
NCBI chr 3:8,028,122...8,030,546
Ensembl chr 3:8,028,131...8,034,601
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G |
Supt4h1 |
SPT4 homolog, DSIF elongation factor subunit |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr10:72,539,323...72,545,582
Ensembl chr10:72,539,382...72,545,831
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G |
Sycp3l1 |
synaptonemal complex protein 3 like 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 PMID:28492532 More...
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NCBI chr 1:186,108,544...186,111,598
Ensembl chr 1:186,108,920...186,109,630
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G |
Tapt1 |
transmembrane anterior posterior transformation 1 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
|
NCBI chr14:66,873,467...66,919,737
Ensembl chr14:66,873,459...66,919,741
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G |
Tbx2 |
T-box transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:70,679,670...70,688,868
Ensembl chr10:70,679,518...70,688,529
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Tbx4 |
T-box transcription factor 4 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825
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Tceanc |
transcription elongation factor A N-terminal and central domain containing |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 PMID:28492532 More...
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NCBI chr X:27,952,539...27,961,038
Ensembl chr X:27,952,457...27,960,940
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Tctn1 |
tectonic family member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 |
CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21725307 PMID:22693042 PMID:25741868 PMID:25920555 PMID:26477546 PMID:26489806 PMID:27894351 PMID:28492532 PMID:31302911 More...
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NCBI chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267
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Tctn2 |
tectonic family member 2 |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21462283 PMID:21565611 PMID:22331178 PMID:23169490 PMID:24033266 PMID:25118024 PMID:25640679 PMID:25741868 PMID:26092869 PMID:26729329 PMID:27894351 PMID:28492532 PMID:28771248 PMID:31428121 PMID:32552793 More...
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NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
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Tex14 |
testis expressed 14, intercellular bridge forming factor |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,231,766...72,356,938
Ensembl chr10:72,231,801...72,355,805
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Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tlr7 |
toll-like receptor 7 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 PMID:28492532 More...
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NCBI chr X:27,027,380...27,054,309
Ensembl chr X:27,027,425...27,054,754
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Tlr8 |
toll-like receptor 8 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 PMID:28492532 More...
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NCBI chr X:27,091,780...27,116,092
Ensembl chr X:27,091,778...27,116,549
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Tmem138 |
transmembrane protein 138 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
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NCBI chr 1:207,219,113...207,226,159
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Tmem141 |
transmembrane protein 141 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,439,533...8,441,491
Ensembl chr 3:8,439,533...8,441,491
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Tmem17 |
transmembrane protein 17 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
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NCBI chr14:96,483,648...96,524,238
Ensembl chr14:96,518,793...96,524,233
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Tmem203 |
transmembrane protein 203 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,070,904...8,071,732
Ensembl chr 3:8,070,914...8,071,867
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Tmem210 |
transmembrane protein 210 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,100,595...8,101,645
Ensembl chr 3:8,100,590...8,101,643
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Tmem216 |
transmembrane protein 216 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19763152 PMID:20036350 PMID:20301500 PMID:20307669 PMID:20512146 PMID:22282472 PMID:22406018 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26673778 PMID:28492532 PMID:28497568 More...
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NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754
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Tmem218 |
transmembrane protein 218 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 PMID:33791682 |
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NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
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Tmem231 |
transmembrane protein 231 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269
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Tmem237 |
transmembrane protein 237 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:17603801 PMID:22152675 PMID:22981120 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31019026 PMID:31710777 More...
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NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
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Tmem250 |
transmembrane protein 250 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,962,657...8,966,349
Ensembl chr 3:8,962,657...8,966,349
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Tmem67 |
transmembrane protein 67 |
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ISO |
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:10567047 PMID:12368986 PMID:16199547 PMID:16415887 PMID:16541367 PMID:17160906 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:19763152 PMID:20232449 PMID:20307669 PMID:20607301 PMID:21068128 PMID:21493627 PMID:21633164 PMID:21866095 PMID:22406018 PMID:22700954 PMID:23034536 PMID:23351400 PMID:23559409 PMID:24033266 PMID:24039893 PMID:25326635 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26075130 PMID:26092869 PMID:26123494 PMID:26191240 PMID:26275793 PMID:26467025 PMID:26477546 PMID:26546361 PMID:26729329 PMID:27434533 PMID:27457812 PMID:27491411 PMID:28125082 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28719906 PMID:28771248 PMID:28973083 PMID:29096039 PMID:29127258 PMID:29146704 PMID:29261186 PMID:29568536 PMID:29891882 PMID:29947050 PMID:29974258 PMID:30029678 PMID:30455918 PMID:30476936 PMID:31019026 PMID:31411728 PMID:31589614 PMID:31738409 PMID:32000717 PMID:32058062 PMID:32404165 PMID:33532864 PMID:34006472 PMID:34032358 PMID:34645491 PMID:34675960 PMID:34964473 PMID:35229910 PMID:36221156 PMID:36617405 PMID:36703223 More...
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NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Tmsb4x |
thymosin beta 4, X-linked |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:27081566 PMID:28492532 More...
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NCBI chr X:27,144,666...27,146,667
Ensembl chr X:27,128,610...27,146,667
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Tmtc3 |
transmembrane O-mannosyltransferase targeting cadherins 3 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 |
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NCBI chr 7:35,264,886...35,310,010
Ensembl chr 7:35,264,892...35,310,385
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Tnfrsf13b |
TNF receptor superfamily member 13B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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Togaram1 |
TOG array regulator of axonemal microtubules 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:32453716 PMID:32747439 |
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NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:83,018,859...83,082,807
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Tom1l2 |
target of myb1 like 2 membrane trafficking protein |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,036,034...45,158,168
Ensembl chr10:45,036,035...45,158,032
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Top3a |
DNA topoisomerase III alpha |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559
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Tor4a |
torsin family 4, member A |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,004,292...8,007,979
Ensembl chr 3:8,002,023...8,008,042
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Tprn |
taperin |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,076,164...8,083,642
Ensembl chr 3:8,075,137...8,083,642
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Traf2 |
Tnf receptor-associated factor 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,341,950...8,366,609
Ensembl chr 3:8,341,951...8,366,538
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Trappc2 |
trafficking protein particle complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:11349230 PMID:16783569 PMID:18546297 PMID:23033313 PMID:25674159 PMID:27081566 PMID:28492532 More...
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NCBI chr X:28,004,051...28,015,336
Ensembl chr X:27,994,054...28,015,346
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Trim25 |
tripartite motif-containing 25 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,812,818...73,831,271
Ensembl chr10:73,812,818...73,831,257
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Trim37 |
tripartite motif-containing 37 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,943,384...72,075,563
Ensembl chr10:71,943,375...72,075,558
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Tspoap1 |
TSPO associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,554,220...72,586,402
Ensembl chr10:72,560,980...72,586,412
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Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:21258341 PMID:24033266 PMID:25741868 PMID:28492532 |
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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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Tubb4b |
tubulin, beta 4B class IVb |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,037,838...8,040,294
Ensembl chr 3:8,037,799...8,040,296
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Tubd1 |
tubulin, delta 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,367,936...71,391,387
Ensembl chr10:71,368,133...71,391,266
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Tvp23b |
trans-golgi network vesicle protein 23 homolog B |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:47,553,789...47,565,203
Ensembl chr10:47,553,831...47,565,203
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Uap1l1 |
UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,172,335...8,180,505
Ensembl chr 3:8,173,216...8,180,443
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Ubac1 |
UBA domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:8,825,444...8,848,055
Ensembl chr 3:8,825,447...8,848,028
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Ush2a |
usherin |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16963483 PMID:24033266 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29767709 PMID:30245029 PMID:31429209 More...
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NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
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Usp32 |
ubiquitin specific peptidase 32 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:69,855,895...70,029,075
Ensembl chr10:69,855,885...70,029,137
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Vezf1 |
vascular endothelial zinc finger 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,859,669...72,876,111
Ensembl chr10:72,859,877...72,876,111
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Vmp1 |
vacuole membrane protein 1 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,405,058...71,505,045
Ensembl chr10:71,405,452...71,505,007
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Wdpcp |
WD repeat containing planar cell polarity effector |
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ISO |
ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:25741868 PMID:27158779 PMID:28492532 |
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NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
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Ypel2 |
yippee-like 2 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,746,308...71,803,843
Ensembl chr10:71,746,311...71,803,911
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Zmynd19 |
zinc finger, MYND-type containing 19 |
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ISO |
ClinVar Annotator: match by term: Familial aplasia of the vermis |
ClinVar |
PMID:16025100 PMID:19597493 PMID:19668216 PMID:21457232 PMID:22318994 PMID:23034536 PMID:23386033 PMID:25132448 PMID:25516202 PMID:25963545 PMID:26820064 PMID:28125082 PMID:28492532 More...
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NCBI chr 3:7,758,133...7,769,722
Ensembl chr 3:7,758,133...7,767,514
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Ofd1 |
Ofd1 centriole and centriolar satellite protein |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 10 CTD Direct Evidence: marker/mechanism DNA:duplication:exon:2122-2125dup (human) DNA:deletions:exon:c.2841_2847del, c.2767del (human) |
OMIM ClinVar CTD RGD |
PMID:16783569 PMID:18546297 PMID:19800048 PMID:22353940 PMID:23033313 PMID:24884629 PMID:25741868 PMID:26092869 PMID:26467025 PMID:27081566 PMID:28492532 PMID:30401917 PMID:35112477 PMID:35728977 PMID:16783569 PMID:19800048 More...
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RGD:11535965, RGD:11535963 |
NCBI chr X:28,015,347...28,056,115
Ensembl chr X:28,015,347...28,056,110
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Kif7 |
kinesin family member 7 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 12 |
ClinVar |
PMID:21633164 PMID:22246503 |
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NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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Tctn1 |
tectonic family member 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 13 |
OMIM ClinVar |
PMID:16199547 PMID:18414213 PMID:21725307 PMID:22693042 PMID:25558065 PMID:25741868 PMID:25920555 PMID:26092869 PMID:26123494 PMID:26477546 PMID:27894351 PMID:28492532 PMID:31302911 PMID:32949114 PMID:34645488 More...
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NCBI chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267
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Als2 |
alsin Rho guanine nucleotide exchange factor ALS2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 14 |
ClinVar |
PMID:11586298 PMID:22152675 PMID:24315819 PMID:28492532 |
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NCBI chr 9:60,613,182...60,686,394
Ensembl chr 9:60,613,167...60,670,737
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C2cd6 |
C2 calcium dependent domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 14 |
ClinVar |
PMID:22152675 PMID:28492532 |
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NCBI chr 9:60,434,926...60,530,842
Ensembl chr 9:60,434,925...60,530,806
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Mpp4 |
MAGUK p55 scaffold protein 4 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 14 |
ClinVar |
PMID:11586298 PMID:22152675 PMID:24315819 PMID:28492532 |
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NCBI chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797
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Stradb |
STE20 related adaptor beta |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:60,414,182...60,433,084
Ensembl chr 9:60,414,182...60,433,084
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Tmem237 |
transmembrane protein 237 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 14 | ClinVar Annotator: match by term: TMEM237-related condition |
OMIM ClinVar |
PMID:9536098 PMID:11586298 PMID:14760273 PMID:16199547 PMID:17576681 PMID:17603801 PMID:22152675 PMID:22981120 PMID:23351400 PMID:24033266 PMID:24315819 PMID:25558065 PMID:25741868 PMID:26092869 PMID:26673778 PMID:28492532 PMID:28600779 PMID:31019026 PMID:31710777 PMID:34839509 More...
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NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
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Cep41 |
centrosomal protein 41 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 15 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20301500 PMID:21438139 PMID:22246503 PMID:25741868 PMID:28492532 PMID:29588463 PMID:30664616 More...
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NCBI chr 4:59,271,218...59,312,343
Ensembl chr 4:59,271,218...59,310,668
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Tmem138 |
transmembrane protein 138 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 16 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:22282472 PMID:25741868 PMID:26092869 PMID:26489029 PMID:27081510 PMID:27434533 PMID:28102635 PMID:28289185 PMID:28492532 PMID:32404165 More...
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NCBI chr 1:207,219,113...207,226,159
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Coq8a |
coenzyme Q8A |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 17 |
ClinVar |
PMID:18319074 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
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Cplane1 |
ciliogenesis and planar polarity effector complex subunit 1 |
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ISO ISS |
ClinVar Annotator: match by term: CPLANE1-related condition | ClinVar Annotator: match by term: Joubert syndrome 17 OMIM:614615 DNA:missense mutation: :p.S235P (mouse) |
OMIM ClinVar MouseDO RGD |
PMID:9536098 PMID:10488899 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20301500 PMID:22425360 PMID:22693042 PMID:23523602 PMID:24091540 PMID:24178751 PMID:25407461 PMID:25533962 PMID:25558065 PMID:25741868 PMID:25877302 PMID:25920555 PMID:26092869 PMID:26096313 PMID:26477546 PMID:27081551 PMID:27158779 PMID:27166760 PMID:27434533 PMID:28087721 PMID:28125082 PMID:28289185 PMID:28431631 PMID:28454995 PMID:28492532 PMID:28518168 PMID:28771248 PMID:28976722 PMID:29146704 PMID:29321670 PMID:29605658 PMID:30408610 PMID:30919572 PMID:31130284 PMID:31158925 PMID:31216405 PMID:31980526 PMID:32037395 PMID:32233090 PMID:32461654 PMID:33176815 PMID:33774617 PMID:34008892 PMID:34091942 PMID:25877302 More...
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RGD:11537349 |
NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
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Crygd |
crystallin, gamma D |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 17 |
ClinVar |
PMID:19390652 PMID:22995991 PMID:25741868 PMID:28492532 |
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NCBI chr 9:66,442,057...66,443,668
Ensembl chr 9:66,442,054...66,444,067
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Scn4a |
sodium voltage-gated channel alpha subunit 4 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 17 |
ClinVar |
PMID:7695243 PMID:9266738 PMID:18046642 PMID:20981092 PMID:25741868 PMID:28492532 More...
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NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
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Tctn3 |
tectonic family member 3 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 18 |
OMIM ClinVar |
PMID:2692869 PMID:16199547 PMID:22883145 PMID:25118024 PMID:25741868 PMID:26092869 PMID:27377014 PMID:28492532 PMID:28771248 More...
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NCBI chr 1:239,414,003...239,425,273
Ensembl chr 1:239,415,203...239,425,272
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Tmem216 |
transmembrane protein 216 |
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ISO |
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 2 | ClinVar Annotator: match by term: Joubert syndrome 2 CTD Direct Evidence: marker/mechanism DNA:misense mutation:exon:c.35G>T(p.R12L)(human) |
OMIM ClinVar CTD RGD |
PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 PMID:22282472 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26673778 PMID:28492532 PMID:28497568 PMID:20036350 More...
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RGD:11561919 |
NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754
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Adat1 |
adenosine deaminase, tRNA-specific 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 20 |
ClinVar |
PMID:23012439 PMID:23349226 PMID:28492532 |
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NCBI chr19:39,918,083...39,956,886
Ensembl chr19:39,918,227...39,956,883
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Chst5 |
carbohydrate sulfotransferase 5 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 20 |
ClinVar |
PMID:23012439 PMID:27449316 PMID:28492532 |
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NCBI chr19:39,860,729...39,881,019
Ensembl chr19:39,860,501...39,881,064
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Gabarapl2 |
GABA type A receptor associated protein like 2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 20 |
ClinVar |
PMID:23012439 PMID:23349226 PMID:28492532 |
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NCBI chr19:39,910,572...39,921,408
Ensembl chr19:39,910,534...39,924,628 Ensembl chr 8:39,910,534...39,924,628
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Kars1 |
lysyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 20 |
ClinVar |
PMID:23012439 PMID:23349226 PMID:28492532 |
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NCBI chr19:39,957,846...39,976,837
Ensembl chr19:39,957,846...39,977,632
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Tmem170a |
transmembrane protein 170A |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 20 |
ClinVar |
PMID:23012439 PMID:27449316 PMID:28492532 |
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NCBI chr19:39,833,947...39,846,807
Ensembl chr19:39,833,980...39,846,783
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Tmem231 |
transmembrane protein 231 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 20 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23012439 PMID:23349226 PMID:25558065 PMID:25640679 PMID:25741868 PMID:25869670 PMID:26477546 PMID:26489029 PMID:26982032 PMID:27449316 PMID:27894351 PMID:28289185 PMID:28492532 PMID:28518168 PMID:31054281 PMID:32055034 PMID:32386258 PMID:32461654 PMID:34354814 PMID:35456422 More...
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NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269
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Arfgef1 |
ADP ribosylation factor guanine nucleotide exchange factor 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 21 |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24360803 PMID:24360807 PMID:24360808 PMID:25741868 PMID:26092869 PMID:28492532 PMID:32386258 More...
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NCBI chr 5:8,982,061...9,076,326
Ensembl chr 5:8,981,540...9,076,326
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Cops5 |
COP9 signalosome subunit 5 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 21 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:9,192,233...9,210,498
Ensembl chr 5:9,192,100...9,210,731
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Cpa6 |
carboxypeptidase A6 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 21 |
ClinVar |
PMID:24360807 PMID:24360808 PMID:28492532 |
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NCBI chr 5:8,526,708...8,888,492
Ensembl chr 5:8,526,741...8,888,485
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G |
Cspp1 |
centrosome and spindle pole associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 21 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301500 PMID:24033266 PMID:24360803 PMID:24360807 PMID:24360808 PMID:25558065 PMID:25640679 PMID:25741868 PMID:26092869 PMID:27434533 PMID:27894351 PMID:28125082 PMID:28492532 PMID:29146704 PMID:29706646 PMID:32386258 PMID:32483926 More...
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NCBI chr 5:9,077,161...9,192,402
Ensembl chr 5:9,077,161...9,193,377
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Mcmdc2 |
minichromosome maintenance domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 21 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:9,291,967...9,337,526
Ensembl chr 5:9,298,101...9,338,300
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Ppp1r42 |
protein phosphatase 1, regulatory subunit 42 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 21 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:9,227,109...9,274,461
Ensembl chr 5:9,227,204...9,274,453
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Snord87 |
small nucleolar RNA, C/D box 87 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 21 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:9,297,489...9,297,573
Ensembl chr 5:9,297,489...9,297,573
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G |
Tcf24 |
transcription factor 24 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 21 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:9,274,659...9,282,876
Ensembl chr 5:9,227,131...9,279,636
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Alpg |
alkaline phosphatase, germ cell |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,748,721...87,761,500
Ensembl chr 9:87,753,648...87,757,836
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Alpi |
alkaline phosphatase, intestinal |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,773,411...87,776,877
Ensembl chr 9:87,773,411...87,776,877
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Alpp |
alkaline phosphatase, placental |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,765,846...87,768,606
Ensembl chr 9:87,765,860...87,768,606
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Armc9 |
armadillo repeat containing 9 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,802,791...86,928,611
Ensembl chr 9:86,802,868...86,928,860
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Atg16l1 |
autophagy related 16-like 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,420,737...88,457,530
Ensembl chr 9:88,422,038...88,457,529
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G |
B3gnt7 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,956,220...86,960,171
Ensembl chr 9:86,956,220...86,960,170
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C9h2orf72 |
similar to human chromosome 2 open reading frame 72 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,691,767...86,699,920
Ensembl chr 9:86,691,867...86,698,185
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Cab39 |
calcium binding protein 39 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,463,095...86,524,545
Ensembl chr 9:86,463,095...86,524,544
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Chrnd |
cholinergic receptor nicotinic delta subunit |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
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Chrng |
cholinergic receptor nicotinic gamma subunit |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
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Cops7b |
COP9 signalosome subunit 7B |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,238,132...87,263,967
Ensembl chr 9:87,238,375...87,263,967
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Dgkd |
diacylglycerol kinase, delta |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,516,686...88,607,349
Ensembl chr 9:88,516,715...88,607,345
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G |
Dis3l2 |
DIS3-like 3'-5' exoribonuclease 2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,355,409...87,736,616
Ensembl chr 9:87,356,457...87,736,616
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G |
Dnajb3 |
DnaJ heat shock protein family (Hsp40) member B3 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,795,542...88,796,555
Ensembl chr 9:88,795,488...88,796,560
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Ecel1 |
endothelin converting enzyme-like 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,819,516...87,829,154
Ensembl chr 9:87,816,718...87,826,675
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G |
Efhd1 |
EF-hand domain family, member D1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,938,259...87,984,917
Ensembl chr 9:87,938,284...87,984,917
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G |
Eif4e2 |
eukaryotic translation initiation factor 4E family member 2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,886,126...87,914,470
Ensembl chr 9:87,878,085...87,914,482
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Gigyf2 |
GRB10 interacting GYF protein 2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,001,212...88,127,040
Ensembl chr 9:88,001,301...88,125,715
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Gpr55 |
G protein-coupled receptor 55 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,584,906...86,640,601
Ensembl chr 9:86,590,885...86,640,613
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Hjurp |
Holliday junction recognition protein |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,853,379...88,867,730
Ensembl chr 9:88,853,386...88,867,728
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Htr2b |
5-hydroxytryptamine receptor 2B |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108
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G |
Itm2c |
integral membrane protein 2C |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,545,927...86,559,745
Ensembl chr 9:86,545,921...86,559,742
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G |
Kcnj13 |
potassium inwardly-rectifying channel, subfamily J, member 13 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,063,003...88,071,112
Ensembl chr 9:88,063,003...88,071,112
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G |
Mroh2a |
maestro heat-like repeat family member 2A |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,814,515...88,862,346
Ensembl chr 9:88,814,197...88,852,607
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G |
Ncl |
nucleolin |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,999,588...87,008,112
Ensembl chr 9:86,998,019...87,008,136
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G |
Neu2 |
neuraminidase 2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,218,494...88,267,356
Ensembl chr 9:88,249,135...88,267,355
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G |
Ngef |
neuronal guanine nucleotide exchange factor |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,146,956...88,244,454
Ensembl chr 9:88,146,956...88,244,914
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G |
Nmur1 |
neuromedin U receptor 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,033,231...87,038,070
Ensembl chr 9:87,033,279...87,036,684
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G |
Nppc |
natriuretic peptide C |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251
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G |
Pde6d |
phosphodiesterase 6D |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
OMIM ClinVar |
PMID:9536098 PMID:17496142 PMID:17576681 PMID:24166846 PMID:25741868 PMID:28492532 PMID:30423442 More...
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NCBI chr 9:87,192,989...87,237,979
Ensembl chr 9:87,192,983...87,237,969
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G |
Prss56 |
serine protease 56 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978
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G |
Psmd1 |
proteasome 26S subunit, non-ATPase 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:86,709,714...86,785,213
Ensembl chr 9:86,709,947...86,785,211
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G |
Ptma |
prothymosin alpha |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,176,251...87,180,333
Ensembl chr 9:87,176,230...87,180,333
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G |
Sag |
S-antigen visual arrestin |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820
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G |
Snorc |
secondary ossification center associated regulator of chondrocyte maturation |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,140,510...88,145,527
Ensembl chr 9:88,140,419...88,145,891
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G |
Snord20 |
small nucleolar RNA, C/D box 20 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,001,068...87,001,147
Ensembl chr 9:87,001,068...87,001,147
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G |
Snord82 |
small nucleolar RNA, C/D box 82 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,004,515...87,004,586
Ensembl chr 9:87,004,515...87,004,586
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G |
Sp100 |
SP100 nuclear antigen |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,310,990...86,377,036
Ensembl chr 9:86,311,032...86,377,034
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G |
Sp110 |
SP110 nuclear body protein |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,200,503...86,225,355
Ensembl chr 9:86,200,503...86,222,670
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G |
Sp140 |
SP140 nuclear body protein |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,224,472...86,274,724
Ensembl chr 9:86,224,513...86,274,542
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G |
Spata3 |
spermatogenesis associated 3 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,660,352...86,672,272
Ensembl chr 9:86,659,784...86,672,272
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G |
Spp2 |
secreted phosphoprotein 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:89,006,858...89,026,676
Ensembl chr 9:89,007,175...89,026,688
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G |
Tex44 |
testis expressed 44 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,075,684...87,077,102
Ensembl chr 9:87,075,684...87,077,102
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G |
Trpm8 |
transient receptor potential cation channel, subfamily M, member 8 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:88,897,039...88,990,167
Ensembl chr 9:88,903,880...88,988,552
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G |
Ugt1a1 |
UDP glucuronosyltransferase family 1 member A1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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G |
Ugt1a2 |
UDP glucuronosyltransferase 1 family, polypeptide A2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,791,216...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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G |
Ugt1a3 |
UDP glycosyltransferase 1 family, polypeptide A3 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,780,328...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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G |
Ugt1a5 |
UDP glucuronosyltransferase family 1 member A5 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,762,250...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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G |
Ugt1a6 |
UDP glucuronosyltransferase family 1 member A6 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,747,213...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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G |
Ugt1a9 |
UDP glucuronosyltransferase family 1 member A9 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,696,981...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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G |
Usp40 |
ubiquitin specific peptidase 40 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,607,920...88,678,940
Ensembl chr 9:88,607,930...88,678,914
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G |
Arid4a |
AT-rich interaction domain 4A |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 23 |
ClinVar |
PMID:26096313 PMID:26166481 PMID:26386044 PMID:28492532 |
|
NCBI chr 6:89,522,459...89,593,868
Ensembl chr 6:89,522,442...89,593,510
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G |
Kiaa0586 |
KIAA0586 homolog |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 23 |
OMIM ClinVar |
PMID:2080096 PMID:2609613 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301500 PMID:24033266 PMID:25640679 PMID:25741868 PMID:25954003 PMID:26026149 PMID:26096313 PMID:26166481 PMID:26386044 PMID:26386247 PMID:26437029 PMID:26938784 PMID:27618451 PMID:28125082 PMID:28490743 PMID:28492532 PMID:28497568 PMID:29068549 PMID:30120217 PMID:32381069 PMID:32581362 More...
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NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
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G |
Psma3 |
proteasome 20S subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 23 |
ClinVar |
PMID:26096313 PMID:26166481 PMID:26386044 PMID:28492532 |
|
NCBI chr 6:89,483,741...89,503,775
Ensembl chr 6:89,483,727...89,504,965
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G |
Timm9 |
translocase of inner mitochondrial membrane 9 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 23 |
ClinVar |
PMID:26096313 PMID:26166481 PMID:26386044 PMID:28492532 |
|
NCBI chr 6:89,610,094...89,622,924
Ensembl chr 6:89,610,094...89,622,924
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G |
Tomm20l |
translocase of outer mitochondrial membrane 20 like |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 23 |
ClinVar |
PMID:26096313 PMID:26166481 PMID:26386044 PMID:28492532 |
|
NCBI chr 6:89,594,016...89,612,070
Ensembl chr 6:89,599,873...89,610,147
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G |
Atp6v0a2 |
ATPase H+ transporting V0 subunit a2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 24 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr12:31,947,220...31,979,875
Ensembl chr12:31,822,733...32,007,069
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G |
Tctn2 |
tectonic family member 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 24 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21462283 PMID:21565611 PMID:22331178 PMID:23169490 PMID:25118024 PMID:25741868 PMID:26092869 PMID:26729329 PMID:27894351 PMID:28492532 PMID:31428121 PMID:32552793 More...
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NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
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G |
Acap3 |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,501,150...166,515,477
Ensembl chr 5:166,500,781...166,515,481
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G |
Actrt2 |
actin-related protein T2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629
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G |
Agrn |
agrin |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003
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G |
Ankrd65 |
ankyrin repeat domain 65 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953
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G |
Arhgef16 |
Rho guanine nucleotide exchange factor 16 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:164,843,656...164,866,212
Ensembl chr 5:164,844,161...164,866,212
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G |
Atad3a |
ATPase family, AAA domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
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G |
B3galt6 |
Beta-1,3-galactosyltransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
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|
G |
C1qtnf12 |
C1q and TNF related 12 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003
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|
G |
C5h1orf159 |
similar to human chromosome 1 open reading frame 159 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955
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G |
Ccdc27 |
coiled-coil domain containing 27 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:164,585,285...164,599,391
Ensembl chr 5:164,585,267...164,599,355
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G |
Ccnl2 |
cyclin L2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882
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G |
Cdk11b |
cyclin-dependent kinase 11B |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876
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G |
Cep104 |
centrosomal protein 104 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
OMIM ClinVar |
PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 PMID:21031596 PMID:25741868 PMID:26477546 PMID:28492532 PMID:31674007 PMID:35372954 More...
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|
NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248
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G |
Cfap74 |
cilia and flagella associated protein 74 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071
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G |
Cptp |
ceramide-1-phosphate transfer protein |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017
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G |
Dvl1 |
dishevelled segment polarity protein 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
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G |
Faap20 |
FA core complex associated protein 20 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333
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G |
Fndc10 |
fibronectin type III domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326
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G |
Gabrd |
gamma-aminobutyric acid type A receptor subunit delta |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411
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G |
Gnb1 |
G protein subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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G |
Hes5 |
hes family bHLH transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001
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G |
Ints11 |
integrator complex subunit 11 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651
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G |
Isg15 |
ISG15 ubiquitin-like modifier |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435
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G |
Klhl17 |
kelch-like family member 17 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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|
NCBI chr 5:166,813,482...166,819,949
Ensembl chr 5:166,814,110...166,818,925
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G |
Lrrc47 |
leucine rich repeat containing 47 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:164,570,539...164,580,174
Ensembl chr 5:164,570,435...164,580,174
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G |
Megf6 |
multiple EGF-like-domains 6 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:164,738,272...164,839,142
Ensembl chr 5:164,738,352...164,839,139
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G |
Mib2 |
MIB E3 ubiquitin protein ligase 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650
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G |
Mir200a |
microRNA 200a |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:166,648,494...166,648,582
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G |
Mir200b |
microRNA 200b |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
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G |
Mir429 |
microRNA 429 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543
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G |
Mmel1 |
membrane metallo-endopeptidase-like 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
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G |
Mmp23 |
matrix metallopeptidase 23 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433
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G |
Morn1 |
MORN repeat containing 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892
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G |
Mrpl20 |
mitochondrial ribosomal protein L20 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
|
|
NCBI chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492
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G |
Mxra8 |
matrix remodeling associated 8 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636
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Nadk |
NAD kinase |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322
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Noc2l |
NOC2-like nucleolar associated transcriptional repressor |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,820,150...166,831,949
Ensembl chr 5:166,820,161...166,831,949
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Pank4 |
pantothenate kinase 4 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135
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Pex10 |
peroxisomal biogenesis factor 10 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
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Plch2 |
phospholipase C, eta 2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356
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Plekhn1 |
pleckstrin homology domain containing N1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,805,309...166,813,339
Ensembl chr 5:166,804,837...166,813,155
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Prdm16 |
PR/SET domain 16 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
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Prkcz |
protein kinase C, zeta |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
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Prxl2b |
peroxiredoxin like 2B |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,462,610...165,465,213
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Pusl1 |
pseudouridine synthase like 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,497,643...166,500,647
Ensembl chr 5:166,496,755...166,500,611
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Rer1 |
retention in endoplasmic reticulum sorting receptor 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750
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Rnf223 |
ring finger protein 223 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,723,346...166,726,236
Ensembl chr 5:166,724,984...166,725,751
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Samd11 |
sterile alpha motif domain containing 11 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,831,681...166,859,805
Ensembl chr 5:166,831,663...166,850,009
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Sdf4 |
stromal cell derived factor 4 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521
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Ski |
Ski proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
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Slc35e2b |
solute carrier family 35, member E2B |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021
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Smim1 |
small integral membrane protein 1 (Vel blood group) |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:164,579,327...164,584,650
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Ssu72 |
SSU72 homolog, RNA polymerase II CTD phosphatase |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429
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Tas1r3 |
taste 1 receptor member 3 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,468,703...166,472,759
Ensembl chr 5:166,469,589...166,472,742
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Tmem240 |
transmembrane protein 240 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636
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Tmem52 |
transmembrane protein 52 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,048,669...166,050,423
Ensembl chr 5:166,046,565...166,050,433
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Tmem88b |
transmembrane protein 88B |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904
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Tnfrsf14 |
TNF receptor superfamily member 14 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703
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Tnfrsf18 |
TNF receptor superfamily member 18 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
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G |
Tnfrsf4 |
TNF receptor superfamily member 4 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
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Tp73 |
tumor protein p73 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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Tprg1l |
tumor protein p63 regulated 1-like |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:164,722,151...164,725,358
Ensembl chr 5:164,710,285...164,725,425
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Ttc34 |
tetratricopeptide repeat domain 34 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857
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Ttll10 |
tubulin tyrosine ligase like 10 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707
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Ube2j2 |
ubiquitin-conjugating enzyme E2, J2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804
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Vwa1 |
von Willebrand factor A domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637
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Wrap73 |
WD repeat containing, antisense to TP73 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 PMID:28492532 PMID:31674007 More...
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NCBI chr 5:164,706,112...164,721,645
Ensembl chr 5:164,706,163...164,721,643
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Katnip |
katanin interacting protein |
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ISO ISS |
ClinVar Annotator: match by term: Joubert syndrome 26 | ClinVar Annotator: match by term: KATNIP-related condition OMIM:616784 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26714646 PMID:27245168 PMID:28492532 More...
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NCBI chr 1:180,270,194...180,436,766
Ensembl chr 1:180,269,929...180,436,766
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B9d1 |
B9 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 27 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:21493627 PMID:24886560 PMID:25741868 PMID:25920555 PMID:26092869 PMID:26477546 PMID:28492532 PMID:32622957 PMID:34906502 More...
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NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
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Mks1 |
MKS transition zone complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 28 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17437276 PMID:17576681 PMID:17935508 PMID:18327255 PMID:19430481 PMID:19466712 PMID:20301500 PMID:21068128 PMID:21258341 PMID:23351400 PMID:23736532 PMID:24033266 PMID:24886560 PMID:25363768 PMID:25741868 PMID:26092869 PMID:26490104 PMID:27353947 PMID:27377014 PMID:27570071 PMID:28224992 PMID:28492532 PMID:28497568 PMID:30055837 PMID:30679815 PMID:30718709 PMID:30902645 PMID:31456290 PMID:31964843 PMID:34008892 PMID:34011629 More...
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NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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Ahi1 |
Abelson helper integration site 1 |
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ISO ISS |
DNA:missense mutation, nonsense mutations:exon:multiple ClinVar Annotator: match by term: Joubert syndrome 3 OMIM:608629 CTD Direct Evidence: marker/mechanism DNA:nonsense mutations:exon:3263_3264del, 1181G>A (human) DNA:missense mutation, nonsense mutations:cds:p.V443D (1328T>A), p.R351X (1051C>T), p.R435X (1303C>T) (human) DNA:nonsense mutation:cds:c.910dup (human) DNA:insertion, missense mutation, splice-site mutations:cds, intron:multiple DNA:deletion, insertion, missense mutation:exon:1188_89del, p.V443D (1328T>A) (human) |
ClinVar MouseDO CTD OMIM RGD |
PMID:9536098 PMID:15322546 PMID:16155189 PMID:16199547 PMID:16240161 PMID:16453322 PMID:16541367 PMID:17377524 PMID:17409309 PMID:17576681 PMID:18054307 PMID:18414213 PMID:21068128 PMID:21623382 PMID:21866095 PMID:21937992 PMID:22236771 PMID:22693042 PMID:22773737 PMID:23532844 PMID:24033266 PMID:24690944 PMID:25326637 PMID:25356976 PMID:25445212 PMID:25525159 PMID:25558065 PMID:25616960 PMID:25741868 PMID:25741869 PMID:25920555 PMID:26035799 PMID:26035800 PMID:26092869 PMID:26467025 PMID:26541515 PMID:26759440 PMID:28041643 PMID:28097321 PMID:28118669 PMID:28125082 PMID:28431631 PMID:28442542 PMID:28492532 PMID:29146704 PMID:29186038 PMID:29343940 PMID:30055837 PMID:31130284 PMID:31624253 PMID:32165824 PMID:32865313 PMID:33879512 PMID:34191236 PMID:34906502 PMID:16155189 PMID:18268248 PMID:21623382 PMID:15322546 PMID:26541515 PMID:16453322 PMID:15467982 PMID:18054307 More...
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RGD:1598905, RGD:11537395, RGD:11537390, RGD:11537388, RGD:11343130, RGD:11537387, RGD:1304518, RGD:11537346 |
NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
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Cyp7b1 |
cytochrome P450 family 7 subfamily B member 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 3 |
ClinVar |
PMID:19439420 PMID:21214876 PMID:21541746 PMID:24519355 PMID:25326637 PMID:25741868 PMID:28492532 More...
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NCBI chr 2:100,502,791...100,669,713
Ensembl chr 2:100,502,791...100,669,698
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Sos1 |
SOS Ras/Rac guanine nucleotide exchange factor 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 3 |
ClinVar |
PMID:21340158 PMID:21387466 PMID:22585553 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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Armc9 |
armadillo repeat containing 9 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 30 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28625504 PMID:29159890 PMID:31474318 More...
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NCBI chr 9:86,802,791...86,928,611
Ensembl chr 9:86,802,868...86,928,860
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Cep120 |
centrosomal protein 120 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 31 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27208211 PMID:28492532 |
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NCBI chr18:47,127,979...47,189,964
Ensembl chr18:47,127,981...47,189,964
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Sufu |
SUFU negative regulator of hedgehog signaling |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 32 |
ClinVar OMIM |
PMID:16199547 PMID:22508808 PMID:25741868 PMID:27930734 PMID:28492532 PMID:28965847 More...
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NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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Pibf1 |
progesterone immunomodulatory binding factor 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 33 |
OMIM ClinVar |
PMID:25741868 PMID:26167768 PMID:28492532 PMID:29695797 PMID:30858804 PMID:31474318 More...
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NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712
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Arl3 |
ADP ribosylation factor like GTPase 3 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 35 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:30269812 |
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NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820
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Dnajc9 |
DnaJ heat shock protein family (Hsp40) member C9 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 36 |
ClinVar |
PMID:25741868 |
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NCBI chr15:3,923,842...3,928,118
Ensembl chr15:3,923,268...3,928,118
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Fam149b1 |
family with sequence similarity 149, member B1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 36 |
OMIM ClinVar |
PMID:25741868 PMID:30905400 |
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NCBI chr15:3,929,190...3,967,140
Ensembl chr15:3,929,190...3,966,997
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Tbc1d32 |
TBC1 domain family, member 32 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 36 |
ClinVar |
PMID:25741868 |
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NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
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Togaram1 |
TOG array regulator of axonemal microtubules 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 37 |
OMIM ClinVar |
PMID:25741868 PMID:32453716 PMID:32747439 |
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NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:83,018,859...83,082,807
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4933427D14Rikl |
RIKEN cDNA 4933427D14 gene like |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 38 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26643951 PMID:28220259 PMID:28492532 PMID:29138412 More...
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NCBI chr10:56,783,869...56,832,668
Ensembl chr10:56,783,775...56,832,968
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Tmem218 |
transmembrane protein 218 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 39 |
OMIM ClinVar |
PMID:25741868 PMID:33791682 PMID:35137054 |
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NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
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Ahi1 |
Abelson helper integration site 1 |
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ISO |
DNA:missense mutation:cds:p.R830W (c.2488C>T) (human) |
RGD |
PMID:17409309 |
RGD:7246903 |
NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041
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Mall |
mal, T-cell differentiation protein-like |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 4 |
ClinVar |
PMID:25741868 |
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NCBI chr 3:114,927,897...114,950,840
Ensembl chr 3:114,927,897...114,950,785
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Nphp1 |
nephrocystin 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 4 CTD Direct Evidence: marker/mechanism associated with Kidney Diseases, Cystic;DNA:mutation |
OMIM ClinVar CTD RGD |
PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 PMID:10712196 PMID:10839884 PMID:11168925 PMID:15138899 PMID:16155189 PMID:16199547 PMID:16762963 PMID:17409309 PMID:17576681 PMID:17855640 PMID:18076122 PMID:23559409 PMID:23661369 PMID:24033266 PMID:24154662 PMID:24746959 PMID:25268133 PMID:25525159 PMID:25741868 PMID:26477546 PMID:26499951 PMID:26673778 PMID:26920127 PMID:27004562 PMID:27491411 PMID:27806791 PMID:28492532 PMID:28559085 PMID:28624958 PMID:29974258 PMID:30108342 PMID:30773290 PMID:31822006 PMID:32483926 PMID:33193692 PMID:34090716 PMID:17409309 More...
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RGD:7246903 |
NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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Nphp4 |
nephrocystin 4 |
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ISO |
DNA:mutations:exon, intron:multiple |
RGD |
PMID:15776426 |
RGD:11068164 |
NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
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Ift74 |
intraflagellar transport 74 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 40 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:31690835 PMID:33531668 PMID:34539760 |
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NCBI chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833
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Cep290 |
centrosomal protein 290 |
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ISO ISS |
ClinVar Annotator: match by term: Joubert syndrome 5 OMIM:610188 CTD Direct Evidence: marker/mechanism DNA:SNPs:multiple (human) DNA:frameshift mutations, nonsense mutations:CDS:multiple (human) DNA:deletions, nonsense mutations, splice-site mutations:exon, intron:multiple DNA:deletions, insertion: :multiple |
OMIM ClinVar MouseDO CTD RGD |
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17617513 PMID:17705300 PMID:17964524 PMID:18327255 PMID:18414213 PMID:19466712 PMID:19764032 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22334370 PMID:22355252 PMID:22446187 PMID:22693042 PMID:23027964 PMID:23034536 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24265693 PMID:24850569 PMID:25097241 PMID:25324289 PMID:25377065 PMID:25439097 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26673778 PMID:27208204 PMID:27353947 PMID:27375279 PMID:27422788 PMID:27491411 PMID:27848944 PMID:28041643 PMID:28157192 PMID:28224992 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:28844315 PMID:28912962 PMID:29146704 PMID:29178642 PMID:29217415 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29620724 PMID:29641573 PMID:29754767 PMID:29844330 PMID:30718709 PMID:30776697 PMID:30879067 PMID:30902645 PMID:31054281 PMID:31091803 PMID:31456290 PMID:31624253 PMID:31630094 PMID:31734136 PMID:31816670 PMID:31884610 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32208788 PMID:32581362 PMID:32856788 PMID:32865313 PMID:33105651 PMID:33249554 PMID:33308271 PMID:33502066 PMID:33532864 PMID:33546218 PMID:33574314 PMID:33726816 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34196655 PMID:34795310 PMID:35005812 PMID:36729443 PMID:36909829 PMID:36990420 PMID:37510321 PMID:27434533 PMID:17564967 PMID:17617513 PMID:17409309 More...
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RGD:329902080, RGD:329853747, RGD:11537352, RGD:7246903 |
NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 5 |
ClinVar |
PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 PMID:29588463 More...
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NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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Tmem67 |
transmembrane protein 67 |
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ISO ISS |
ClinVar Annotator: match by term: Joubert syndrome 6 OMIM:610688 CTD Direct Evidence: marker/mechanism DNA:missense mutations, splice-site mutations: :multiple |
OMIM ClinVar MouseDO CTD RGD |
PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:10567047 PMID:12368986 PMID:16199547 PMID:16541367 PMID:17160906 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:22700954 PMID:23351400 PMID:23559409 PMID:25326635 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26467025 PMID:26729329 PMID:27434533 PMID:27457812 PMID:27491411 PMID:28125082 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28508964 PMID:28680603 PMID:28719906 PMID:28771248 PMID:28973083 PMID:29127258 PMID:29146704 PMID:29568536 PMID:29891882 PMID:29974258 PMID:30029678 PMID:30055837 PMID:30455918 PMID:30476936 PMID:31019026 PMID:31319225 PMID:31589614 PMID:31738409 PMID:32000717 PMID:32404165 PMID:34006472 PMID:34645491 PMID:34675960 PMID:34964473 PMID:36305856 PMID:36617405 PMID:17160906 More...
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RGD:11072184 |
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Pkd2 |
polycystin 2, transient receptor potential cation channel |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 7 |
ClinVar |
PMID:19936001 PMID:25741868 PMID:28492532 |
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NCBI chr14:5,237,135...5,280,455
Ensembl chr14:5,237,135...5,280,825
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G |
Rpgrip1 |
RPGR interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 7 |
ClinVar |
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NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605
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Rpgrip1l |
Rpgrip1-like |
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ISO ISS |
ClinVar Annotator: match by term: Joubert syndrome 7 OMIM:611560 CTD Direct Evidence: marker/mechanism DNA:missense mutations, splice-site mutation:exon, intron:multiple |
OMIM ClinVar MouseDO CTD RGD |
PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:19574260 PMID:20301500 PMID:21866095 PMID:23351400 PMID:25741868 PMID:26092869 PMID:27434533 PMID:28492532 PMID:28771248 PMID:29343940 PMID:31328266 PMID:31390572 PMID:33323469 PMID:35233738 PMID:35858853 PMID:17960139 More...
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RGD:11537350 |
NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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Arl13b |
ADP-ribosylation factor like GTPase 13B |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 8 CTD Direct Evidence: marker/mechanism DNA:missense mutations, nonsense mutation:p.R79Q, p.R200C, p.W82X (human) |
OMIM ClinVar CTD RGD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18674751 PMID:23150559 PMID:23153492 PMID:24033266 PMID:25138100 PMID:25741868 PMID:26092869 PMID:26132555 PMID:27153923 PMID:28492532 PMID:28787594 PMID:29255182 PMID:34447983 PMID:18674751 More...
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RGD:11553937 |
NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197
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G |
Nsun3 |
NOP2/Sun RNA methyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 8 |
ClinVar |
PMID:28492532 |
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NCBI chr11:37,490,832...37,575,607
Ensembl chr11:37,490,838...37,568,543
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G |
Pros1 |
protein S |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 8 |
ClinVar |
PMID:28492532 |
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NCBI chr11:230,597...311,288
Ensembl chr11:230,696...311,286
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G |
Stx19 |
syntaxin 19 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 8 |
ClinVar |
PMID:28492532 |
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NCBI chr11:172,855...178,053
Ensembl chr11:171,395...179,191
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G |
Cav3 |
caveolin 3 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 9 |
ClinVar |
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NCBI chr 4:145,582,168...145,598,142
Ensembl chr 4:145,582,060...145,598,137
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G |
Cc2d2a |
coiled-coil and C2 domain containing 2A |
no_association |
ISO |
ClinVar Annotator: match by term: Joubert syndrome 9 | ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic CTD Direct Evidence: marker/mechanism DNA:splice-site mutation:intron:IVS19+1G>C (human) DNA:mutations: :multiple |
OMIM ClinVar CTD RGD |
PMID:3631907 PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18387594 PMID:18414213 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:21068128 PMID:21370303 PMID:22241855 PMID:22246503 PMID:22425360 PMID:23012439 PMID:23692786 PMID:24706459 PMID:25525159 PMID:25741868 PMID:26092869 PMID:26310553 PMID:26467025 PMID:26477546 PMID:26485645 PMID:26673778 PMID:26729329 PMID:27081510 PMID:27082236 PMID:27848944 PMID:27894351 PMID:27959436 PMID:28125082 PMID:28492532 PMID:28497568 PMID:28518168 PMID:29146704 PMID:29620724 PMID:30055837 PMID:30091983 PMID:30202406 PMID:31130284 PMID:31618753 PMID:32461654 PMID:32488064 PMID:33486889 PMID:33502066 PMID:34645488 PMID:34906502 PMID:38259611 PMID:19068953 PMID:22241855 PMID:22241855 More...
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RGD:11535976, RGD:11062645, RGD:11062645 |
NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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Cep41 |
centrosomal protein 41 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 9/15, digenic |
ClinVar |
PMID:20301500 PMID:22246503 PMID:25741868 PMID:28492532 PMID:30664616 |
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NCBI chr 4:59,271,218...59,312,343
Ensembl chr 4:59,271,218...59,310,668
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G |
Oxtr |
oxytocin receptor |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 9 |
ClinVar |
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NCBI chr 4:145,598,549...145,614,674
Ensembl chr 4:145,599,561...145,614,674
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G |
Rpe65 |
retinoid isomerohydrolase RPE65 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 9 |
ClinVar |
PMID:10766140 PMID:16123440 PMID:19431183 PMID:24265693 PMID:25741868 PMID:28492532 More...
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NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
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G |
Smad6 |
SMAD family member 6 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 9 |
ClinVar |
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NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
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G |
Cplane1 |
ciliogenesis and planar polarity effector complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: OFDS VI | ClinVar Annotator: match by term: Orofaciodigital syndrome VI | ClinVar Annotator: match by term: Varadi-Papp syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20301500 PMID:22425360 PMID:22693042 PMID:23523602 PMID:24091540 PMID:24178751 PMID:25407461 PMID:25533962 PMID:25558065 PMID:25741868 PMID:25846457 PMID:25920555 PMID:26092869 PMID:27081551 PMID:27158779 PMID:28125082 PMID:28289185 PMID:28431631 PMID:28454995 PMID:28492532 PMID:28771248 PMID:28976722 PMID:29146704 PMID:29321670 PMID:29605658 PMID:30408610 PMID:30919572 PMID:31130284 PMID:31158925 PMID:31216405 PMID:31980526 PMID:32037395 PMID:32233090 PMID:33176815 PMID:33774617 PMID:34008892 PMID:34091942 More...
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NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
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G |
Ap1b1 |
adaptor related protein complex 1 subunit beta 1 |
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ISS |
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MouseDO |
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NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
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G |
C5h1orf127 |
similar to human chromosome 1 open reading frame 127 |
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ISS |
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MouseDO |
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NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369
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G |
Ccdc103 |
coiled-coil domain containing 103 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22581229 |
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NCBI chr10:87,846,327...87,849,959
Ensembl chr10:87,846,357...87,849,757
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G |
Ccdc39 |
coiled-coil domain 39 molecular ruler complex subunit |
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ISS |
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MouseDO |
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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 |
Ccdc40 |
coiled-coil domain 40 molecular ruler complex subunit |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Kartagener syndrome |
CTD ClinVar |
PMID:16199547 PMID:21131974 PMID:22693285 PMID:23255504 PMID:25741868 PMID:28492532 PMID:31213628 PMID:31443223 PMID:31650533 PMID:31772028 PMID:31879361 More...
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NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
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G |
Daw1 |
dynein assembly factor with WD repeats 1 |
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ISS |
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MouseDO |
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NCBI chr 9:84,435,552...84,472,632
Ensembl chr 9:84,435,552...84,472,635
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G |
Dnaaf1 |
dynein, axonemal, assembly factor 1 |
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ISO |
ClinVar Annotator: match by term: Kartagener syndrome |
ClinVar |
PMID:19944400 PMID:19944405 PMID:28492532 |
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NCBI chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313
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G |
Dnaaf11 |
dynein axonemal assembly factor 11 |
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ISO |
ClinVar Annotator: match by term: Kartagener syndrome |
ClinVar |
PMID:23122589 PMID:23891469 PMID:24307375 PMID:26139845 PMID:28492532 |
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NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
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G |
Dnaaf2 |
dynein, axonemal, assembly factor 2 |
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ISO |
ClinVar Annotator: match by term: Kartagener syndrome |
ClinVar |
PMID:19052621 PMID:24498942 |
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NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199
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G |
Dnaaf3 |
dynein, axonemal, assembly factor 3 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism |
CTD MouseDO |
PMID:22387996 |
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NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
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G |
Dnaaf4 |
dynein axonemal assembly factor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23872636 |
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NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292
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G |
Dnah1 |
dynein, axonemal, heavy chain 1 |
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ISO |
ClinVar Annotator: match by term: Kartagener syndrome |
ClinVar |
PMID:25927852 PMID:28492532 PMID:32719396 |
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NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
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G |
Dnah11 |
dynein, axonemal, heavy chain 11 |
susceptibility |
ISO ISS |
DNA:nonsense mutation, missense mutation: :R2852X, R3004Q |
MouseDO RGD |
PMID:12142464 |
RGD:734893 |
NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
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G |
Dnah5 |
dynein, axonemal, heavy chain 5 |
susceptibility |
ISO ISS |
DNA:mutations ClinVar Annotator: match by term: Kartagener syndrome |
ClinVar MouseDO RGD |
PMID:11788826 PMID:16627867 PMID:19357118 PMID:19630565 PMID:23477994 PMID:25741868 PMID:28492532 PMID:30067075 PMID:31443223 PMID:11788826 More...
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RGD:1601080 |
NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
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G |
Dnai1 |
dynein, axonemal, intermediate chain 1 |
susceptibility |
ISO ISS |
DNA:missense mutation, insertion, deletion:exon, intron:p.G515S ClinVar Annotator: match by term: Kartagener syndrome CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD RGD |
PMID:9536098 PMID:10577904 PMID:11231901 PMID:16199547 PMID:16858015 PMID:17576681 PMID:18434704 PMID:18492703 PMID:19300481 PMID:19675306 PMID:21143860 PMID:21270641 PMID:22416021 PMID:23477994 PMID:24033266 PMID:24498942 PMID:24912412 PMID:25741868 PMID:25802884 PMID:26918822 PMID:28152038 PMID:28492532 PMID:28939216 PMID:28952366 PMID:29363216 PMID:30067075 PMID:30868567 PMID:31589614 PMID:33032373 PMID:33447612 PMID:11231901 More...
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RGD:1601083 |
NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
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G |
Dnai2 |
dynein, axonemal, intermediate chain 2 |
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ISS |
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MouseDO |
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NCBI chr10:99,759,966...99,793,379
Ensembl chr10:99,759,966...99,793,378
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G |
Dnal1 |
dynein, axonemal, light chain 1 |
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ISO |
ClinVar Annotator: match by term: Kartagener syndrome |
ClinVar |
PMID:21496787 |
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NCBI chr 6:103,747,801...103,779,015
Ensembl chr 6:103,747,753...103,778,878
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G |
Drc1 |
dynein regulatory complex subunit 1 |
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ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Kartagener syndrome |
CTD MouseDO ClinVar |
PMID:23354437 PMID:25741868 |
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NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414
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G |
Foxj1 |
forkhead box J1 |
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ISS |
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MouseDO |
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NCBI chr10:101,566,299...101,570,370
Ensembl chr10:101,566,304...101,570,237
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G |
Mbl2 |
mannose binding lectin 2 |
severity |
ISO |
DNA:haplotype:promoter: |
RGD |
PMID:24753481 |
RGD:11250592 |
NCBI chr 1:228,016,439...228,024,736
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G |
Odad1 |
outer dynein arm docking complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Kartagener syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:23261302 PMID:23261303 PMID:25741868 PMID:27637300 PMID:28492532 More...
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NCBI chr 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925
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G |
Odad2 |
outer dynein arm docking complex subunit 2 |
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ISS ISO |
ClinVar Annotator: match by term: Kartagener syndrome |
MouseDO ClinVar |
PMID:23806086 PMID:23849778 PMID:24088041 PMID:28492532 |
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NCBI chr17:55,216,877...55,409,872
Ensembl chr17:55,218,991...55,409,399
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G |
Odad3 |
outer dynein arm docking complex subunit 3 |
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ISS ISO |
ClinVar Annotator: match by term: Kartagener syndrome |
MouseDO ClinVar |
PMID:25192045 PMID:25224326 PMID:25741868 PMID:28492532 |
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NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499
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Polr2k |
RNA polymerase II, I and III subunit K |
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ISO |
ClinVar Annotator: match by term: Kartagener syndrome |
ClinVar |
PMID:24055112 |
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NCBI chr 7:67,347,118...67,359,466
Ensembl chr 7:67,356,113...67,357,668
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Rsph1 |
radial spoke head component 1 |
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ISO |
ClinVar Annotator: match by term: Kartagener syndrome | ClinVar Annotator: match by term: Siewert syndrome |
ClinVar |
PMID:23993197 PMID:24033266 PMID:24518672 PMID:24568568 PMID:25741868 PMID:25789548 PMID:26139845 PMID:28492532 More...
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NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640
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Rsph4a |
radial spoke head component 4A |
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ISO |
ClinVar Annotator: match by term: Kartagener syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:23798057 PMID:24824133 PMID:25741868 PMID:28492532 PMID:34513534 More...
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NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574
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Slit2 |
slit guidance ligand 2 |
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ISS |
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MouseDO |
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NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
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Spag1 |
sperm associated antigen 1 |
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ISO |
ClinVar Annotator: match by term: Kartagener syndrome |
ClinVar |
PMID:24055112 PMID:25741868 PMID:26228299 PMID:27637300 PMID:28492532 PMID:30067075 More...
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NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368
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G |
Zmynd10 |
zinc finger, MYND-type containing 10 |
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ISO |
ClinVar Annotator: match by term: Kartagener syndrome |
ClinVar |
PMID:23891469 PMID:23891471 PMID:25741868 PMID:26139845 PMID:28492532 PMID:33635866 More...
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NCBI chr 8:108,220,386...108,224,745
Ensembl chr 8:108,220,386...108,224,744
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G |
Atp6v0a2 |
ATPase H+ transporting V0 subunit a2 |
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ISO |
ClinVar Annotator: match by term: Meckel-Gruber syndrome |
ClinVar |
PMID:25741868 |
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NCBI chr12:31,947,220...31,979,875
Ensembl chr12:31,822,733...32,007,069
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B9d1 |
B9 domain containing 1 |
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ISS ISO |
ClinVar Annotator: match by term: Meckel-Gruber syndrome |
MouseDO ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
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B9d2 |
B9 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Meckel-Gruber syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
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G |
Cc2d2a |
coiled-coil and C2 domain containing 2A |
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ISS ISO |
ClinVar Annotator: match by term: Meckel-Gruber syndrome |
MouseDO ClinVar |
PMID:3631907 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:21068128 PMID:22241855 PMID:22246503 PMID:22425360 PMID:23012439 PMID:23351400 PMID:24360807 PMID:25525159 PMID:25741868 PMID:26092869 PMID:26477546 PMID:26485645 PMID:26673778 PMID:27081510 PMID:27082236 PMID:27959436 PMID:28125082 PMID:28492532 PMID:28518168 PMID:29146704 PMID:31618753 PMID:31964843 PMID:32461654 PMID:32488064 PMID:34194672 More...
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NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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Ccdc172 |
coiled-coil domain containing 172 |
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ISO |
ClinVar Annotator: match by term: Meckel-Gruber syndrome |
ClinVar |
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NCBI chr 1:257,629,188...257,682,373
Ensembl chr 1:257,629,208...257,675,247
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Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: Meckel-Gruber syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19764032 PMID:19959640 PMID:20079931 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22334370 PMID:22355252 PMID:22693042 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24474277 PMID:25097241 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26062849 PMID:26092869 PMID:26467025 PMID:26529047 PMID:26673778 PMID:27208204 PMID:27353947 PMID:27422788 PMID:28041643 PMID:28157192 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:29146704 PMID:29178642 PMID:29217415 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29641573 PMID:29754767 PMID:29844330 PMID:29974258 PMID:30190494 PMID:30193310 PMID:30559420 PMID:30718709 PMID:30902645 PMID:31054281 PMID:31091803 PMID:31411728 PMID:31630094 PMID:31734136 PMID:31877679 PMID:31884610 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32165824 PMID:32208788 PMID:32600475 PMID:32856788 PMID:32865313 PMID:33105651 PMID:33308271 PMID:33502066 PMID:33532864 PMID:33546218 PMID:33574314 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34196655 PMID:34906470 PMID:35764379 PMID:36909829 More...
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NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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Cep295 |
centrosomal protein 295 |
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ISO |
ClinVar Annotator: match by term: Meckel-Gruber syndrome |
ClinVar |
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NCBI chr 8:12,156,568...12,194,542
Ensembl chr 8:12,156,554...12,194,552
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Cep55 |
centrosomal protein 55 |
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ISS |
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MouseDO |
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NCBI chr 1:235,832,823...235,848,401
Ensembl chr 1:235,832,878...235,848,394
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G |
Cimip2b |
ciliary microtubule inner protein 2B |
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ISO |
ClinVar Annotator: match by term: Meckel-Gruber syndrome |
ClinVar |
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NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611
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Cspp1 |
centrosome and spindle pole associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Meckel-Gruber syndrome |
ClinVar |
PMID:24360803 PMID:25558065 PMID:25741868 |
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NCBI chr 5:9,077,161...9,192,402
Ensembl chr 5:9,077,161...9,193,377
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G |
Evc2 |
EvC ciliary complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Meckel-Gruber syndrome |
ClinVar |
PMID:25558065 |
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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 |
Exoc3l2 |
exocyst complex component 3-like 2 |
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ISO |
ClinVar Annotator: match by term: Meckel-Gruber syndrome |
ClinVar |
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NCBI chr 1:79,113,784...79,145,359
Ensembl chr 1:79,112,506...79,145,465
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Exoc4 |
exocyst complex component 4 |
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ISO |
ClinVar Annotator: match by term: Meckel-Gruber syndrome |
ClinVar |
PMID:25558065 |
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NCBI chr 4:61,807,706...62,584,316
Ensembl chr 4:61,807,761...62,585,723
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Fto |
FTO, alpha-ketoglutarate dependent dioxygenase |
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ISO |
ClinVar Annotator: match by term: Meckel-Gruber syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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Kiaa0586 |
KIAA0586 homolog |
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ISO |
ClinVar Annotator: match by term: Meckel-Gruber syndrome |
ClinVar |
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NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
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Mks1 |
MKS transition zone complex subunit 1 |
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ISS ISO |
ClinVar Annotator: match by term: Meckel-Gruber syndrome |
MouseDO ClinVar |
PMID:9536098 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17437276 PMID:17576681 PMID:17935508 PMID:18327255 PMID:18414213 PMID:19430481 PMID:19466712 PMID:21068128 PMID:21258341 PMID:23351400 PMID:23602711 PMID:23736532 PMID:24033266 PMID:24886560 PMID:25741868 PMID:26092869 PMID:26490104 PMID:27353947 PMID:27377014 PMID:28224992 PMID:28492532 PMID:28497568 PMID:28771248 PMID:30679815 PMID:30718709 PMID:30902645 PMID:31456290 PMID:34008892 PMID:34582790 More...
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NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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Nphp3 |
nephrocystin 3 |
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ISO |
ClinVar Annotator: match by term: Meckel-Gruber syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
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ISO |
ClinVar Annotator: match by term: Meckel-Gruber syndrome |
ClinVar |
PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 PMID:29588463 PMID:30193310 PMID:34196655 More...
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NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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Rpgrip1l |
Rpgrip1-like |
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ISS ISO |
ClinVar Annotator: match by term: Meckel-Gruber syndrome |
MouseDO ClinVar |
PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:20301500 PMID:21068128 PMID:21866095 PMID:25741868 PMID:26092869 PMID:27434533 PMID:28492532 PMID:28771248 PMID:31390572 More...
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NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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Tbc1d32 |
TBC1 domain family, member 32 |
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ISS |
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MouseDO |
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NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
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G |
Tctn1 |
tectonic family member 1 |
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ISO |
ClinVar Annotator: match by term: Meckel-Gruber syndrome |
ClinVar |
PMID:21725307 PMID:22693042 PMID:25741868 PMID:27894351 PMID:28492532 |
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NCBI chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267
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Tctn2 |
tectonic family member 2 |
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ISO |
ClinVar Annotator: match by term: Meckel-Gruber syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
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Tmem138 |
transmembrane protein 138 |
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ISO |
ClinVar Annotator: match by term: Meckel-Gruber syndrome |
ClinVar |
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NCBI chr 1:207,219,113...207,226,159
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Tmem216 |
transmembrane protein 216 |
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ISO |
ClinVar Annotator: match by term: Meckel-Gruber syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754
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Tmem231 |
transmembrane protein 231 |
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ISO |
ClinVar Annotator: match by term: Meckel-Gruber syndrome |
ClinVar |
PMID:9536098 PMID:17576681 PMID:23349226 PMID:25558065 PMID:25741868 PMID:25869670 PMID:28492532 More...
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NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269
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Tmem237 |
transmembrane protein 237 |
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ISO |
ClinVar Annotator: match by term: Meckel-Gruber syndrome |
ClinVar |
PMID:25558065 PMID:25741868 |
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NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
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G |
Tmem67 |
transmembrane protein 67 |
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ISS ISO |
ClinVar Annotator: match by term: Meckel-Gruber syndrome |
MouseDO ClinVar |
PMID:2929661 PMID:9375913 PMID:9536098 PMID:17160906 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21493627 PMID:21633164 PMID:21866095 PMID:22700954 PMID:23034536 PMID:23351400 PMID:23559409 PMID:24033266 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28125082 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28973083 PMID:29127258 PMID:29146704 PMID:29891882 PMID:34964473 More...
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NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Ttc6 |
tetratricopeptide repeat domain 6 |
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ISO |
ClinVar Annotator: match by term: Meckel-Gruber syndrome |
ClinVar |
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NCBI chr 6:75,136,827...75,368,176
Ensembl chr 6:75,136,792...75,368,178
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Txndc15 |
thioredoxin domain containing 15 |
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ISO |
ClinVar Annotator: match by term: Meckel-Gruber syndrome |
ClinVar |
PMID:25741868 PMID:27894351 PMID:29209597 PMID:31411728 |
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NCBI chr17:8,898,074...8,910,538
Ensembl chr17:8,845,084...8,910,539
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B9d1 |
B9 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
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G |
B9d2 |
B9 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
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G |
Cc2d2a |
coiled-coil and C2 domain containing 2A |
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ISO |
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 |
ClinVar |
PMID:3631907 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:21068128 PMID:22241855 PMID:22246503 PMID:22425360 PMID:23012439 PMID:23351400 PMID:24033266 PMID:24360807 PMID:25525159 PMID:25741868 PMID:26092869 PMID:26477546 PMID:26485645 PMID:26673778 PMID:27081510 PMID:27082236 PMID:27959436 PMID:28125082 PMID:28492532 PMID:28518168 PMID:29146704 PMID:31618753 PMID:31964843 PMID:32461654 PMID:32488064 PMID:34194672 More...
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NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Meckel syndrome, type 1 |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19764032 PMID:19959640 PMID:20079931 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22334370 PMID:22355252 PMID:22693042 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24474277 PMID:25097241 PMID:25377065 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26062849 PMID:26092869 PMID:26467025 PMID:26529047 PMID:26673778 PMID:27208204 PMID:27353947 PMID:27422788 PMID:28041643 PMID:28157192 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:29146704 PMID:29178642 PMID:29217415 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29641573 PMID:29754767 PMID:29844330 PMID:29974258 PMID:30190494 PMID:30193310 PMID:30559420 PMID:30718709 PMID:30902645 PMID:31054281 PMID:31091803 PMID:31411728 PMID:31630094 PMID:31734136 PMID:31877679 PMID:31884610 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32165824 PMID:32208788 PMID:32600475 PMID:32856788 PMID:32865313 PMID:33105651 PMID:33308271 PMID:33502066 PMID:33532864 PMID:33546218 PMID:33574314 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34196655 PMID:34906470 PMID:35764379 PMID:36909829 More...
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NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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G |
Fto |
FTO, alpha-ketoglutarate dependent dioxygenase |
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ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica |
ClinVar |
PMID:28492532 |
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NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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G |
Hoxb6 |
homeo box B6 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 1 |
ClinVar |
PMID:25741868 |
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NCBI chr10:81,258,726...81,267,458
Ensembl chr10:81,265,056...81,267,449
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G |
Mks1 |
MKS transition zone complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Meckel syndrome, type 1 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 DNA:splice-site mutations:intron:c.870-2A>G, c.1546+1G¿¿¿>A (human) DNA:deletion:intron:IVS15-7_35del (human) DNA:splice-site mutation:intron:c.515 + 6T>C (mouse) DNA:missense mutations, splice-site mutations:exon:c.417G>A, c.958G>A (p.V320I), c.1490G>A (p.R497K) (human) |
OMIM ClinVar CTD RGD |
PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17437276 PMID:17576681 PMID:17935508 PMID:18327255 PMID:19430481 PMID:19466712 PMID:20301500 PMID:21068128 PMID:21228398 PMID:21258341 PMID:23169490 PMID:23351400 PMID:23602711 PMID:23736532 PMID:24033266 PMID:24608809 PMID:24886560 PMID:25363768 PMID:25741868 PMID:26092869 PMID:26490104 PMID:26862157 PMID:27353947 PMID:27377014 PMID:27570071 PMID:28224992 PMID:28492532 PMID:28497568 PMID:28771248 PMID:29620724 PMID:30055837 PMID:30076350 PMID:30679815 PMID:30718709 PMID:30902645 PMID:31191208 PMID:31456290 PMID:31964843 PMID:33584783 PMID:34008892 PMID:34011629 PMID:34359301 PMID:34582790 PMID:35587316 PMID:23351400 PMID:17935508 PMID:19776033 PMID:21045211 PMID:17397051 More...
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RGD:11535078, RGD:11535074, RGD:11535068, RGD:11535065, RGD:11063991 |
NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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Nphp3 |
nephrocystin 3 |
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ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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G |
Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
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ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome |
ClinVar |
PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 PMID:29588463 PMID:30193310 PMID:34196655 More...
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NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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G |
Rpgrip1l |
Rpgrip1-like |
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ISO |
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:20301500 PMID:21068128 PMID:21866095 PMID:25741868 PMID:26092869 PMID:27434533 PMID:28492532 PMID:28771248 PMID:31390572 More...
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NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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G |
Snord118 |
small nucleolar RNA, C/D box 118 |
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ISO |
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 |
ClinVar |
PMID:25741868 PMID:27571260 |
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NCBI chr10:53,774,811...53,774,946
Ensembl chr10:53,774,811...53,774,946
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G |
Tctn1 |
tectonic family member 1 |
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ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica |
ClinVar |
PMID:21725307 PMID:22693042 PMID:25741868 PMID:27894351 PMID:28492532 |
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NCBI chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267
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G |
Tctn2 |
tectonic family member 2 |
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ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
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Tmem107 |
transmembrane protein 107 |
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ISO |
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 |
ClinVar |
PMID:25741868 PMID:27571260 |
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NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
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Tmem231 |
transmembrane protein 231 |
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ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica |
ClinVar |
PMID:9536098 PMID:17576681 PMID:23349226 PMID:25558065 PMID:25741868 PMID:25869670 PMID:28492532 More...
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NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269
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Tmem67 |
transmembrane protein 67 |
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ISO |
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 |
ClinVar |
PMID:2929661 PMID:9375913 PMID:9536098 PMID:17160906 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:22700954 PMID:23034536 PMID:23351400 PMID:23559409 PMID:24033266 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28125082 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28973083 PMID:29127258 PMID:29146704 PMID:29891882 PMID:34964473 More...
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NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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B9d2 |
B9 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 34 | ClinVar Annotator: match by term: Meckel syndrome, type 10 |
OMIM ClinVar |
PMID:21763481 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 PMID:31411728 PMID:33234550 More...
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NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
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Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 10 |
ClinVar |
PMID:16207846 PMID:17293864 PMID:18292811 PMID:18424453 PMID:25741868 PMID:28492532 More...
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NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Duox2 |
dual oxidase 2 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 11 |
ClinVar |
PMID:21565790 PMID:25741868 PMID:28492532 |
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NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
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Tmem231 |
transmembrane protein 231 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 11 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23012439 PMID:23169490 PMID:23349226 PMID:25558065 PMID:25741868 PMID:25869670 PMID:26123494 PMID:26489029 PMID:27711071 PMID:28492532 PMID:28518168 PMID:30143558 PMID:32055034 PMID:32386258 PMID:32461654 PMID:32552793 PMID:34354814 More...
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NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269
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Kif14 |
kinesin family member 14 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome 12 |
OMIM ClinVar |
PMID:24128419 PMID:25741868 PMID:28492532 |
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NCBI chr13:47,926,975...47,990,598
Ensembl chr13:47,927,044...47,989,164
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Tmem107 |
transmembrane protein 107 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome 13 |
OMIM ClinVar |
PMID:25741868 PMID:26123494 PMID:26595381 |
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NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
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Txndc15 |
thioredoxin domain containing 15 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome 14 |
OMIM ClinVar |
PMID:25741868 PMID:27894351 PMID:31411728 |
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NCBI chr17:8,898,074...8,910,538
Ensembl chr17:8,845,084...8,910,539
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Tmem216 |
transmembrane protein 216 |
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ISO |
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Meckel syndrome, type 2 CTD Direct Evidence: marker/mechanism DNA:missense,frameshift,nonsense mutations:cds,splice junction: |
OMIM ClinVar CTD RGD |
PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 PMID:22282472 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26673778 PMID:28492532 PMID:28497568 PMID:20512146 More...
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RGD:11067331 |
NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754
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Tmem67 |
transmembrane protein 67 |
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ISO IAGP |
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3 | ClinVar Annotator: match by term: Meckel syndrome, type 3 CTD Direct Evidence: marker/mechanism DNA:deletion DNA:deletions, missense mutation, splice-site mutations: :multiple DNA:missense mutation:exon:p.P394L (rat) DNA:missense mutation:exon:p.R549C (c.1645C>T) (human) DNA:missense mutations: :p.M252T (c.755T>C), p.R441C (c.1392C>T) (human) DNA:missense mutations:exon: p.M252T (755T>C), p.R440Q (1319G>A), p.L966P (2897T>C) (human) DNA:missense mutations, splice-site mutation:exon:multiple |
OMIM ClinVar CTD RGD |
PMID:2929661 PMID:9375913 PMID:9536098 PMID:16199547 PMID:16415887 PMID:16541367 PMID:17160906 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21493627 PMID:21633164 PMID:21866095 PMID:22121117 PMID:22700954 PMID:23351400 PMID:23559409 PMID:24033266 PMID:24039893 PMID:25326635 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26123494 PMID:26191240 PMID:26275793 PMID:26467025 PMID:26546361 PMID:26729329 PMID:27491411 PMID:28125082 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28771248 PMID:28973083 PMID:29127258 PMID:29146704 PMID:29261186 PMID:29891882 PMID:29974258 PMID:30029678 PMID:30476936 PMID:31411728 PMID:32000717 PMID:34032358 PMID:34675960 PMID:26035863 PMID:19211713 PMID:16415887 PMID:16415887 PMID:26191240 PMID:23351400 PMID:17377820 PMID:17397051 More...
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RGD:329950577, RGD:11535945, RGD:11535082, RGD:11535082, RGD:11535080, RGD:11535078, RGD:11068761, RGD:11063991 |
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Tmem67wpk |
transmembrane protein 67; wpk mutant |
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IAGP |
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RGD |
PMID:16415887 |
RGD:11535082 |
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G |
Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4 CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) DNA:frameshift mutation:exon:c.5489del (human) |
OMIM ClinVar CTD RGD |
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19764032 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22355252 PMID:22446187 PMID:22693042 PMID:22699515 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24265693 PMID:25097241 PMID:25324289 PMID:25439097 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26092869 PMID:26467025 PMID:26477546 PMID:26667666 PMID:26673778 PMID:27208204 PMID:27353947 PMID:27375279 PMID:27422788 PMID:27894351 PMID:28041643 PMID:28224992 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:28912962 PMID:28973549 PMID:29053603 PMID:29146704 PMID:29178642 PMID:29217415 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29641573 PMID:29754767 PMID:29844330 PMID:30718709 PMID:30776697 PMID:30879067 PMID:30897646 PMID:30902645 PMID:31091803 PMID:31411728 PMID:31624253 PMID:31680349 PMID:31734136 PMID:31884610 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32208788 PMID:32856788 PMID:32865313 PMID:33249554 PMID:33308271 PMID:33502066 PMID:33546218 PMID:33574314 PMID:33726816 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34196655 PMID:34795310 PMID:35005812 PMID:35764379 PMID:35836572 PMID:36460718 PMID:37008293 PMID:17564974 PMID:17705300 More...
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RGD:11063677, RGD:11070805 |
NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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Rlig1 |
RNA 5'-phosphate and 3'-OH ligase 1 |
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ISO |
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 4 | ClinVar Annotator: match by term: Meckel syndrome, type 4 |
ClinVar |
PMID:16682973 PMID:16909394 PMID:20683928 PMID:25741868 PMID:28492532 PMID:29588463 More...
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NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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G |
Tmem218 |
transmembrane protein 218 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 4 |
ClinVar |
PMID:25741868 PMID:33791682 |
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NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
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Rpgrip1l |
Rpgrip1-like |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 5 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:17558407 PMID:17558409 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:20301500 PMID:21068128 PMID:21866095 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:27434533 PMID:28492532 PMID:28771248 PMID:29343940 PMID:31328266 PMID:31390572 PMID:33323469 PMID:35233738 PMID:35858853 More...
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NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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Cc2d2a |
coiled-coil and C2 domain containing 2A |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 6 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8253763 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18513680 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:21068128 PMID:21370303 PMID:21866095 PMID:22241855 PMID:22246503 PMID:22995991 PMID:23351400 PMID:24360807 PMID:24706459 PMID:25741868 PMID:26003401 PMID:26092869 PMID:26467025 PMID:26729329 PMID:27081510 PMID:27082236 PMID:27894351 PMID:28125082 PMID:28492532 PMID:28518168 PMID:29039169 PMID:29987673 PMID:30202406 PMID:31130284 PMID:32165824 PMID:32461654 PMID:32488064 PMID:33486889 PMID:34645488 More...
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NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 6 |
ClinVar |
PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 PMID:18327255 PMID:18414213 PMID:20690115 PMID:21068128 PMID:21245082 PMID:22355252 PMID:22693042 PMID:23591405 PMID:23954617 PMID:25741868 PMID:25818971 PMID:26092869 PMID:27353947 PMID:28492532 PMID:30718709 More...
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NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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G |
Tctn2 |
tectonic family member 2 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 6 |
ClinVar |
PMID:16199547 PMID:21462283 PMID:21565611 PMID:23169490 PMID:25741868 PMID:26729329 PMID:27894351 PMID:28492532 PMID:31428121 PMID:32552793 More...
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NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
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G |
Nphp3 |
nephrocystin 3 |
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ISO |
ClinVar Annotator: match by term: Dandy-Walker cyst with renal-hepatic-pancreatic dysplasia | ClinVar Annotator: match by term: Meckel syndrome type 7 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:12872122 PMID:17576681 PMID:17855640 PMID:18371931 PMID:19177160 PMID:19303681 PMID:20007846 PMID:21866095 PMID:23188109 PMID:23559409 PMID:24033266 PMID:24776604 PMID:25741868 PMID:26184788 PMID:26673778 PMID:27353947 PMID:27894351 PMID:28132693 PMID:28492532 PMID:28921755 PMID:28973083 PMID:30002499 PMID:31980526 PMID:32040628 PMID:32055034 PMID:32552793 PMID:33532864 More...
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NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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G |
Atp6v0a2 |
ATPase H+ transporting V0 subunit a2 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 8 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:31,947,220...31,979,875
Ensembl chr12:31,822,733...32,007,069
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G |
Tctn2 |
tectonic family member 2 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 8 | ClinVar Annotator: match by term: TCTN2-Related Disorders |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21462283 PMID:21565611 PMID:22331178 PMID:23169490 PMID:25118024 PMID:25741868 PMID:26092869 PMID:26729329 PMID:27894351 PMID:28492532 PMID:31428121 PMID:32552793 More...
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NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
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G |
Akap10 |
A-kinase anchoring protein 10 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 9 |
ClinVar |
PMID:21493627 |
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NCBI chr10:46,545,371...46,608,730
Ensembl chr10:46,551,532...46,608,769
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G |
Aldh3a1 |
aldehyde dehydrogenase 3 family, member A1 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 9 |
ClinVar |
PMID:21493627 |
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NCBI chr10:45,892,993...45,902,680
Ensembl chr10:45,892,924...45,902,681
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G |
Aldh3a2 |
aldehyde dehydrogenase 3 family, member A2 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 9 |
ClinVar |
PMID:21493627 |
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NCBI chr10:45,928,313...45,949,366
Ensembl chr10:45,908,524...45,949,281
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G |
B9d1 |
B9 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 9 |
OMIM ClinVar |
PMID:21493627 PMID:25741868 PMID:28492532 |
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NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
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G |
Epn2 |
epsin 2 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 9 |
ClinVar |
PMID:21493627 |
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NCBI chr10:46,197,785...46,259,673
Ensembl chr10:46,197,785...46,259,642
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G |
Fam83g |
family with sequence similarity 83, member G |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 9 |
ClinVar |
PMID:21493627 |
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NCBI chr10:46,363,029...46,388,030
Ensembl chr10:46,363,051...46,388,019
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Grap |
GRB2-related adaptor protein |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 9 |
ClinVar |
PMID:21493627 |
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NCBI chr10:46,298,965...46,352,057
Ensembl chr10:46,332,909...46,352,056
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G |
Mapk7 |
mitogen-activated protein kinase 7 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 9 |
ClinVar |
PMID:21493627 |
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NCBI chr10:46,170,264...46,176,262
Ensembl chr10:46,170,167...46,176,267
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G |
Mfap4 |
microfibril associated protein 4 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 9 |
ClinVar |
PMID:21493627 |
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NCBI chr10:46,167,158...46,170,176
Ensembl chr10:46,167,217...46,170,155
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G |
Prpsap2 |
phosphoribosyl pyrophosphate synthetase-associated protein 2 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 9 |
ClinVar |
PMID:21493627 |
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NCBI chr10:46,410,817...46,445,929
Ensembl chr10:46,410,835...46,445,849
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G |
Rnf112 |
ring finger protein 112 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 9 |
ClinVar |
PMID:21493627 |
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NCBI chr10:46,121,146...46,126,691
Ensembl chr10:46,121,148...46,126,699
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G |
Slc47a1 |
solute carrier family 47 member 1 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 9 |
ClinVar |
PMID:21493627 |
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NCBI chr10:46,034,115...46,088,617
Ensembl chr10:46,034,122...46,087,637
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G |
Slc47a2 |
solute carrier family 47 member 2 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 9 |
ClinVar |
PMID:21493627 |
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NCBI chr10:45,990,806...46,033,937
Ensembl chr10:45,991,095...46,033,904
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G |
Slc5a10 |
solute carrier family 5 member 10 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 9 |
ClinVar |
PMID:21493627 |
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NCBI chr10:46,352,060...46,400,795
Ensembl chr10:46,352,061...46,399,811
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G |
Specc1 |
sperm antigen with calponin homology and coiled-coil domains 1 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 9 |
ClinVar |
PMID:21493627 |
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NCBI chr10:46,638,947...46,912,989
Ensembl chr10:46,638,809...46,912,802
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G |
Ulk2 |
unc-51 like autophagy activating kinase 2 |
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ISO |
ClinVar Annotator: match by term: Meckel syndrome, type 9 |
ClinVar |
PMID:21493627 |
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NCBI chr10:46,451,578...46,530,462
Ensembl chr10:46,454,030...46,530,407
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 12 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18327258 PMID:18414213 PMID:21068128 PMID:21258341 PMID:22773737 PMID:23559409 PMID:24033266 PMID:24876116 PMID:25492405 PMID:25741868 PMID:26294094 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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G |
Adcy7 |
adenylate cyclase 7 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,740,875...18,798,924
Ensembl chr19:18,740,875...18,776,311
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G |
Brd7 |
bromodomain containing 7 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,708,792...18,737,497
Ensembl chr19:18,709,022...18,737,494
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G |
Cnep1r1 |
CTD nuclear envelope phosphatase 1 regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,932,631...18,947,667
Ensembl chr19:18,932,682...18,947,667
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G |
Cyld |
CYLD lysine 63 deubiquitinase |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658
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G |
Heatr3 |
HEAT repeat containing 3 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,892,477...18,930,502
Ensembl chr19:18,893,144...18,930,509
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G |
Nkd1 |
NKD inhibitor of WNT signaling pathway 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,476,344...18,549,380
Ensembl chr19:18,476,344...18,549,380
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G |
Nod2 |
nucleotide-binding oligomerization domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,382,369...18,422,817
Ensembl chr19:18,382,439...18,417,177
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G |
Sall1 |
spalt-like transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705
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G |
Snx20 |
sorting nexin 20 |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,435,935...18,445,108
Ensembl chr19:18,435,935...18,445,107
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G |
Tent4b |
terminal nucleotidyltransferase 4B |
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ISO |
ClinVar Annotator: match by term: Nephronophthisis 14 |
ClinVar |
PMID:28492532 |
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NCBI chr19:18,807,616...18,868,969
Ensembl chr19:18,807,525...18,869,537
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G |
Zfp423 |
zinc finger protein 423 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 19 | ClinVar Annotator: match by term: Nephronophthisis 14 | ClinVar Annotator: match by term: ZNF423-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:17576681 PMID:22863007 PMID:25741868 PMID:26539891 PMID:28106320 PMID:28492532 PMID:30868567 PMID:32723786 PMID:32925911 More...
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NCBI chr19:19,111,213...19,407,373
Ensembl chr19:19,110,238...19,407,373
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G |
Abcg1 |
ATP binding cassette subfamily G member 1 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:9,126,687...9,182,948
Ensembl chr20:9,126,687...9,182,948
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G |
Adarb1 |
adenosine deaminase, RNA-specific, B1 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852
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G |
Agpat3 |
1-acylglycerol-3-phosphate O-acyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,330,960...10,415,358
Ensembl chr20:10,384,507...10,415,358
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G |
Aire |
autoimmune regulator |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060
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G |
Ak7 |
adenylate kinase 7 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:18776131 PMID:20537283 PMID:22801010 |
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NCBI chr 6:124,611,789...124,679,978
Ensembl chr 6:124,611,902...124,679,961
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G |
Ap1b1 |
adaptor related protein complex 1 subunit beta 1 |
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ISS |
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MouseDO |
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NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
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G |
Aptx |
aprataxin |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
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G |
Aqp3 |
aquaporin 3 (Gill blood group) |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720
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G |
Aqp7 |
aquaporin 7 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,171,649...56,186,642
Ensembl chr 5:56,172,519...56,186,642
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G |
Arhgef39 |
Rho guanine nucleotide exchange factor 39 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109
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G |
Arid3c |
AT-rich interaction domain 3C |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,889,649...56,896,959
Ensembl chr 5:56,890,042...56,895,888
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G |
Atosb |
atos homolog B |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892
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G |
B4galt1 |
beta-1,4-galactosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461
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G |
Bag1 |
BAG cochaperone 1 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,068,494...56,081,075
Ensembl chr 5:56,068,494...56,081,075
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G |
C20h21orf58 |
similar to human chromosome 21 open reading frame 58 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:12,167,279...12,188,665
Ensembl chr20:12,175,442...12,187,017
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G |
C2cd2 |
C2 calcium-dependent domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr11:37,225,321...37,289,741
Ensembl chr11:37,227,415...37,289,739
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G |
C5h1orf127 |
similar to human chromosome 1 open reading frame 127 |
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ISS |
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MouseDO |
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NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369
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G |
Cacna2d2 |
calcium voltage-gated channel auxiliary subunit alpha2delta 2 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 8:108,072,208...108,203,516
Ensembl chr 8:108,072,454...108,203,173
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G |
Camkv |
CaM kinase-like vesicle-associated |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 8:108,626,821...108,641,169
Ensembl chr 8:108,626,821...108,641,169
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G |
Car9 |
carbonic anhydrase 9 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
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G |
Cbs |
cystathionine beta synthase |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
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G |
Cby1 |
chibby 1, beta catenin antagonist |
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ISS |
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MouseDO |
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NCBI chr 7:111,216,835...111,223,305
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G |
Ccdc103 |
coiled-coil domain containing 103 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22581229 PMID:23891469 PMID:24033266 PMID:24357714 PMID:25326635 PMID:25741868 PMID:26123568 PMID:27637300 PMID:28492532 PMID:28790179 PMID:30067075 PMID:35626283 More...
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NCBI chr10:87,846,327...87,849,959
Ensembl chr10:87,846,357...87,849,757
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G |
Ccdc107 |
coiled-coil domain containing 107 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
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G |
Ccdc39 |
coiled-coil domain 39 molecular ruler complex subunit |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 PMID:21131972 PMID:22406018 PMID:22499950 PMID:22693285 PMID:22693295 PMID:23255504 PMID:23891469 PMID:24033266 PMID:24498942 PMID:25118008 PMID:25186273 PMID:25640679 PMID:25741868 PMID:27637300 PMID:28230599 PMID:28492532 PMID:29748307 PMID:30067075 PMID:31213628 PMID:31650533 PMID:31772028 PMID:31980526 PMID:32253119 PMID:33005176 PMID:33577779 PMID:33942430 PMID:34768622 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 |
Ccdc40 |
coiled-coil domain 40 molecular ruler complex subunit |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21131974 PMID:22499950 PMID:22693285 PMID:23255504 PMID:23261302 PMID:23757202 PMID:23891469 PMID:24033266 PMID:24498942 PMID:24518672 PMID:25619595 PMID:25741868 PMID:25877373 PMID:26228299 PMID:28492532 PMID:30067075 PMID:31213628 PMID:31443223 PMID:31507630 PMID:31589614 PMID:31650533 PMID:31765523 PMID:31772028 PMID:31879361 PMID:31980526 PMID:32502479 PMID:33715250 PMID:34134972 PMID:34768622 PMID:35626283 More...
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NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
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G |
Ccdc65 |
coiled-coil domain containing 65 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:129,857,118...129,870,803
Ensembl chr 7:129,857,247...129,870,803
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G |
Ccin |
calicin |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951
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G |
Ccl19 |
C-C motif chemokine ligand 19 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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G |
Ccl21 |
C-C motif chemokine ligand 21 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
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G |
Ccl27 |
C-C motif chemokine ligand 27 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
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G |
Ccno |
cyclin O |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24747639 PMID:25741868 PMID:26139845 PMID:26777464 PMID:28492532 PMID:30067075 PMID:31650533 PMID:31879361 PMID:31980526 PMID:32367404 PMID:32622824 PMID:331765523 More...
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NCBI chr 2:44,630,873...44,633,912
Ensembl chr 2:44,626,369...44,633,914
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G |
Cd72 |
Cd72 molecule |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725
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G |
Cdca7l |
cell division cycle associated 7 like |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:24033266 PMID:24450482 PMID:25741868 PMID:26139845 PMID:28492532 PMID:29997923 PMID:31772028 PMID:31879361 PMID:32502479 PMID:32622824 PMID:33942430 PMID:34133440 PMID:34556108 More...
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NCBI chr 6:138,793,953...138,839,889
Ensembl chr 6:138,794,228...138,839,888
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G |
Cfap221 |
cilia and flagella associated protein 221 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:31636325 |
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NCBI chr13:31,046,550...31,118,141
Ensembl chr13:31,046,535...31,116,899
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G |
Cfap410 |
cilia and flagella associated protein 410 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737
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G |
Cfap57 |
cilia and flagella associated protein 57 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:32764743 |
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NCBI chr 5:132,074,404...132,148,102
Ensembl chr 5:132,074,395...132,148,462
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G |
Chmp5 |
charged multivesicular body protein 5 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,081,385...56,098,529
Ensembl chr 5:56,081,343...56,098,529
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G |
Cimip2b |
ciliary microtubule inner protein 2B |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611
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G |
Clta |
clathrin, light chain A |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472
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G |
Cntfr |
ciliary neurotrophic factor receptor |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,823,448...56,861,049
Ensembl chr 5:56,823,965...56,841,392
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G |
Col18a1 |
collagen type XVIII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593
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G |
Col6a1 |
collagen type VI alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
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G |
Col6a2 |
collagen type VI alpha 2 chain |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
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|
G |
Creb3 |
cAMP responsive element binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,817,865...57,823,233
Ensembl chr 5:57,817,832...57,824,390
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|
G |
Cryaa |
crystallin, alpha A |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349
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G |
Cstb |
cystatin B |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
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|
G |
Cyb561d2 |
cytochrome b561 family, member D2 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:108,213,201...108,215,778
Ensembl chr 8:108,213,205...108,215,759
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|
G |
Cybb |
cytochrome b-245 beta chain |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586
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|
G |
Daw1 |
dynein assembly factor with WD repeats 1 |
|
ISS ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
MouseDO ClinVar |
PMID:28991257 PMID:36074124 |
|
NCBI chr 9:84,435,552...84,472,632
Ensembl chr 9:84,435,552...84,472,635
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|
G |
Dcaf12 |
DDB1 and CUL4 associated factor 12 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,460,418...56,482,171
Ensembl chr 5:56,461,006...56,482,456
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|
G |
Dctn3 |
dynactin subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102
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|
G |
Dnaaf1 |
dynein, axonemal, assembly factor 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19944400 PMID:19944405 PMID:22499950 PMID:23599692 PMID:24033266 PMID:24307375 PMID:24498942 PMID:25158045 PMID:25741868 PMID:26633542 PMID:27543293 PMID:27884173 PMID:28492532 PMID:28991257 PMID:29228333 PMID:30067075 PMID:34556108 More...
|
|
NCBI chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313
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|
G |
Dnaaf11 |
dynein axonemal assembly factor 11 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:20301301 PMID:23122589 PMID:23527195 PMID:23891469 PMID:24033266 PMID:24307375 PMID:25741868 PMID:26139845 PMID:26228299 PMID:27637300 PMID:28492532 More...
|
|
NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
|
|
G |
Dnaaf2 |
dynein, axonemal, assembly factor 2 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:9536098 PMID:17576681 PMID:19052621 PMID:24033266 PMID:24498942 PMID:25741868 PMID:28492532 PMID:32719396 More...
|
|
NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199
|
|
G |
Dnaaf3 |
dynein, axonemal, assembly factor 3 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:9536098 PMID:10745040 PMID:16199547 PMID:17576681 PMID:22387996 PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30067075 PMID:31213628 PMID:31772028 PMID:31879361 PMID:34401452 More...
|
|
NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
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|
G |
Dnaaf4 |
dynein axonemal assembly factor 4 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:23872636 PMID:24033266 PMID:24824133 PMID:25741868 PMID:26139845 PMID:28492532 PMID:30067075 More...
|
|
NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292
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|
G |
Dnaaf5 |
dynein, axonemal, assembly factor 5 |
|
ISS ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
MouseDO ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301301 PMID:23040496 PMID:24033266 PMID:24307375 PMID:25232951 PMID:25741868 PMID:28492532 PMID:29358401 PMID:29363216 PMID:37104040 More...
|
|
NCBI chr12:15,453,636...15,492,722
Ensembl chr12:15,453,636...15,492,739
|
|
G |
Dnaaf6 |
dynein axonemal assembly factor 6 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:30067075 |
|
NCBI chr X:103,724,419...103,775,633
Ensembl chr X:103,731,857...103,775,629
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|
G |
Dnah1 |
dynein, axonemal, heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:25741868 PMID:27573432 PMID:27798045 PMID:28492532 |
|
NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
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|
G |
Dnah11 |
dynein, axonemal, heavy chain 11 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:2690980 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18022865 PMID:20301301 PMID:20513915 PMID:21270641 PMID:21911699 PMID:22102620 PMID:22184204 PMID:22499950 PMID:22749724 PMID:23891469 PMID:23998934 PMID:24033266 PMID:24450482 PMID:25640679 PMID:25741868 PMID:25802884 PMID:26139845 PMID:26729821 PMID:26909801 PMID:27637300 PMID:28492532 PMID:28976722 PMID:29363216 PMID:29467202 PMID:29997923 PMID:30067075 PMID:30359267 PMID:30919572 PMID:31040315 PMID:31507630 PMID:31607746 PMID:31633846 PMID:31650533 PMID:31765523 PMID:31772028 PMID:31879361 PMID:32253119 PMID:32367404 PMID:32502479 PMID:32622824 PMID:32633470 PMID:32860008 PMID:33131162 PMID:33240318 PMID:33447612 PMID:33577779 PMID:33608380 PMID:33715250 PMID:33942430 PMID:34008892 PMID:34133440 PMID:34210339 PMID:34298581 PMID:34513534 PMID:34556108 PMID:35440622 PMID:36003331 PMID:36864285 More...
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|
NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
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G |
Dnah5 |
dynein, axonemal, heavy chain 5 |
|
ISS ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
MouseDO ClinVar |
PMID:2127064 PMID:2389146 PMID:2506606 PMID:9536098 PMID:11062149 PMID:11788826 PMID:11912187 PMID:15750039 PMID:16199547 PMID:16492982 PMID:16627867 PMID:17534128 PMID:17576681 PMID:18492703 PMID:18950741 PMID:19357118 PMID:19630565 PMID:19763152 PMID:20301301 PMID:20307669 PMID:21270641 PMID:22406018 PMID:22416021 PMID:22499950 PMID:23261302 PMID:23477994 PMID:23661805 PMID:23891469 PMID:24033266 PMID:24150548 PMID:24448499 PMID:24498942 PMID:24905662 PMID:25066065 PMID:25118008 PMID:25186273 PMID:25326635 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25802884 PMID:26139845 PMID:26228299 PMID:26373788 PMID:26918822 PMID:26938784 PMID:27428751 PMID:27618201 PMID:27637300 PMID:27637763 PMID:27779714 PMID:27988889 PMID:28492532 PMID:28939216 PMID:28976722 PMID:29089047 PMID:29363216 PMID:29402277 PMID:29453417 PMID:30067075 PMID:30148830 PMID:30290127 PMID:30293987 PMID:30293990 PMID:30300419 PMID:31213628 PMID:31443223 PMID:31469207 PMID:31589614 PMID:31624253 PMID:31638833 PMID:31765523 PMID:31772028 PMID:31879361 PMID:32111882 PMID:32357925 PMID:32367404 PMID:32502479 PMID:32502767 PMID:32847546 PMID:33574797 PMID:33577779 PMID:33589394 PMID:33635012 PMID:33715250 PMID:37860582 More...
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NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
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G |
Dnah7 |
dynein, axonemal, heavy chain 7 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:54,960,235...55,266,529
Ensembl chr 9:54,960,440...55,262,297
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G |
Dnah8 |
dynein, axonemal, heavy chain 8 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 PMID:22406018 PMID:24033266 PMID:24307375 PMID:25741868 PMID:28492532 PMID:31213628 PMID:32037394 PMID:32574564 PMID:32619401 PMID:32681648 More...
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|
NCBI chr20:8,692,939...8,946,780
Ensembl chr20:8,692,963...8,946,772
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G |
Dnah9 |
dynein, axonemal, heavy chain 9 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:30471718 |
|
NCBI chr10:50,496,174...50,864,909
Ensembl chr10:50,497,688...50,864,949
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|
G |
Dnai1 |
dynein, axonemal, intermediate chain 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:9536098 PMID:10577904 PMID:11231901 PMID:11713099 PMID:16199547 PMID:16858015 PMID:17576681 PMID:18434704 PMID:18492703 PMID:19300481 PMID:19675306 PMID:21143860 PMID:21270641 PMID:23477994 PMID:24033266 PMID:24498942 PMID:25741868 PMID:25802884 PMID:26918822 PMID:28152038 PMID:28492532 PMID:28939216 PMID:28952366 PMID:29095814 PMID:29363216 PMID:30067075 PMID:30300419 PMID:30868567 PMID:31130284 PMID:31213628 PMID:31589614 PMID:31650533 PMID:31772028 PMID:33032373 PMID:33131162 PMID:33447612 PMID:33715250 PMID:34445527 More...
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NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
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G |
Dnai2 |
dynein, axonemal, intermediate chain 2 |
|
ISS ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
MouseDO ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18950741 PMID:20301301 PMID:23261302 PMID:23891469 PMID:24033266 PMID:24498942 PMID:25640679 PMID:25741868 PMID:25802884 PMID:28492532 PMID:31681265 PMID:32253119 PMID:33447612 PMID:35728977 PMID:36303540 More...
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|
NCBI chr10:99,759,966...99,793,379
Ensembl chr10:99,759,966...99,793,378
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G |
Dnaja1 |
DnaJ heat shock protein family (Hsp40) member A1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:55,842,414...55,853,326
Ensembl chr 5:55,842,426...55,853,967
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G |
Dnajb13 |
DnaJ heat shock protein family (Hsp40) member B13 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 1:154,848,586...154,863,042
Ensembl chr 1:154,848,594...154,862,963
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G |
Dnajb5 |
DnaJ heat shock protein family (Hsp40) member B5 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,176,840...57,186,067
Ensembl chr 5:57,176,845...57,185,490
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G |
Dnal1 |
dynein, axonemal, light chain 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:21496787 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 6:103,747,801...103,779,015
Ensembl chr 6:103,747,753...103,778,878
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G |
Dnmt3l |
DNA methyltransferase 3 like |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,614,933...10,629,337
Ensembl chr20:10,614,934...10,629,516
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G |
Dpcd |
deleted in primary ciliary dyskinesia |
|
ISS |
|
MouseDO |
|
|
NCBI chr 1:244,408,766...244,426,891
Ensembl chr 1:244,408,785...244,426,888
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G |
Drc1 |
dynein regulatory complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:9536098 PMID:12746204 PMID:16199547 PMID:17576681 PMID:23354437 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31213628 PMID:31270959 PMID:31701675 PMID:31960620 More...
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|
NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414
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G |
Dynlt3 |
dynein light chain Tctex-type 3 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr X:13,327,933...13,337,139
Ensembl chr X:13,327,892...13,337,139
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G |
Enho |
energy homeostasis associated |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777
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G |
Exosc3 |
exosome component 3 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060
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G |
FAM187A |
family with sequence similarity 187, member A |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:87,850,861...87,852,332
Ensembl chr10:87,846,285...87,852,471
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G |
Fam219a |
family with sequence similarity 219, member A |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,679,272...56,729,959
Ensembl chr 5:56,680,613...56,729,924
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G |
Fam221b |
family with sequence similarity 221, member B |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367
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G |
Fancg |
FA complementation group G |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
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G |
Fbxo10 |
F-box protein 10 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,297,016...59,343,429
Ensembl chr 5:59,297,045...59,343,348
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G |
Foxj1 |
forkhead box J1 |
|
ISS |
|
MouseDO |
|
|
NCBI chr10:101,566,299...101,570,370
Ensembl chr10:101,566,304...101,570,237
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G |
Frmpd1 |
FERM and PDZ domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,443,076...59,545,125
Ensembl chr 5:59,443,076...59,545,080
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G |
Ftcd |
formimidoyltransferase cyclodeaminase |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
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G |
Gaa |
alpha glucosidase |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:18414213 PMID:23757202 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836
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G |
Galt |
galactose-1-phosphate uridylyltransferase |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265
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G |
Gas2l2 |
growth arrest-specific 2 like 2 |
|
ISS ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
MouseDO ClinVar |
PMID:25741868 PMID:30665704 |
|
NCBI chr10:68,222,475...68,229,877
Ensembl chr10:68,222,475...68,229,881
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G |
Gas8 |
growth arrest specific 8 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr19:51,552,770...51,572,323
Ensembl chr19:51,552,816...51,572,305
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|
G |
Gatd3a |
glutamine amidotransferase class 1 domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,514,793...10,522,894
Ensembl chr20:10,514,744...10,522,885
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G |
Gba2 |
glucosylceramidase beta 2 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
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G |
Gfap |
glial fibrillary acidic protein |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
|
|
NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
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G |
Glipr2 |
GLI pathogenesis-related 2 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,170,417...58,202,258
Ensembl chr 5:58,170,425...58,202,272
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G |
Gnai2 |
G protein subunit alpha i2 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
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G |
Gnat1 |
G protein subunit alpha transducin 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671
|
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G |
Gne |
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499
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G |
Gprc6a |
G protein-coupled receptor, class C, group 6, member A |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:30,922,106...30,943,412
Ensembl chr20:30,922,106...30,943,412
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G |
Grhpr |
glyoxylate and hydroxypyruvate reductase |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603
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|
G |
H2ap |
H2A.P histone |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr X:12,907,962...12,908,516
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|
G |
Hint2 |
histidine triad nucleotide binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097
|
|
G |
Hrct1 |
histidine rich carboxyl terminus 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,982,344...57,983,186
Ensembl chr 5:57,982,470...57,982,790
|
|
G |
Hsdl1 |
hydroxysteroid dehydrogenase like 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr19:47,615,794...47,631,892
Ensembl chr19:47,615,796...47,631,846
|
|
G |
Hsf2bp |
heat shock transcription factor 2 binding protein |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,035,562...10,123,059
Ensembl chr20:10,035,562...10,121,242
|
|
G |
Hyal1 |
hyaluronidase 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:108,250,668...108,254,519
Ensembl chr 8:108,250,667...108,260,210
|
|
G |
Hyal2 |
hyaluronidase 2 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:108,241,895...108,246,853
Ensembl chr 8:108,243,133...108,246,850
|
|
G |
Hyal3 |
hyaluronidase 3 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:108,254,385...108,260,020
Ensembl chr 8:108,250,667...108,260,647
|
|
G |
Hycc1 |
hyccin PI4KA lipid kinase complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532 More...
|
|
NCBI chr 4:11,132,224...11,239,120
Ensembl chr 4:11,132,385...11,239,113
|
|
G |
Hydin |
Hydin, axonemal central pair apparatus protein |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:25741868 |
|
NCBI chr19:38,236,996...38,583,271
Ensembl chr19:38,236,464...38,583,264
|
|
G |
Icoslg |
inducible T-cell co-stimulator ligand |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,600,420...10,610,718
Ensembl chr20:10,600,420...10,610,703
|
|
G |
Ifrd2 |
interferon-related developmental regulator 2 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:108,260,969...108,266,191
Ensembl chr 8:108,260,969...108,266,194
|
|
G |
Il11ra1 |
interleukin 11 receptor subunit alpha 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
|
|
G |
Il6 |
interleukin 6 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532 More...
|
|
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
|
|
G |
Itgb2 |
integrin subunit beta 2 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
|
|
G |
Kif24 |
kinesin family member 24 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,561,019...56,628,040
Ensembl chr 5:56,561,154...56,628,025
|
|
G |
Klhl7 |
kelch-like family member 7 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
|
|
G |
Kpna5 |
karyopherin subunit alpha 5 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:30,822,925...30,888,080
Ensembl chr20:30,822,935...30,888,078
|
|
G |
Krtap10-1 |
keratin associated protein 10-1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,880,524...10,881,445
Ensembl chr20:10,855,181...10,864,362
|
|
G |
Krtap10-10 |
keratin associated protein 10-10 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,854,951...10,864,402
|
|
G |
Krtap10-2 |
keratin associated protein 10-2 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,888,588...10,889,386
|
|
G |
Krtap10-8 |
keratin associated protein 10-8 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,871,991...10,872,927
Ensembl chr20:10,871,991...10,872,844
|
|
G |
Krtap10-9 |
keratin associated protein 10-9 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,939,609...10,940,526
Ensembl chr20:10,939,609...10,940,526
|
|
G |
Krtap12-1 |
keratin associated protein 12-1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,917,340...10,917,949
|
|
G |
Krtap12-2 |
keratin associated protein 12-2 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,904,422...10,904,751
|
|
G |
Krtap12-4 |
keratin associated protein 12-4 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,910,350...10,910,682
|
|
G |
Lrr1 |
leucine rich repeat protein 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:87,643,195...87,651,894
Ensembl chr 6:87,643,217...87,651,894
|
|
G |
Lrrc3 |
leucine rich repeat containing 3 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,758,919...10,763,736
Ensembl chr20:10,758,955...10,762,067
|
|
G |
Lsmem2 |
leucine-rich single-pass membrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:108,265,855...108,270,656
Ensembl chr 8:108,266,345...108,279,115
|
|
G |
Lss |
lanosterol synthase |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
|
|
G |
Mbtps1 |
membrane-bound transcription factor peptidase, site 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr19:47,561,598...47,612,769
Ensembl chr19:47,561,598...47,612,791
|
|
G |
Mcidas |
multiciliate differentiation and DNA synthesis associated cell cycle protein |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:8813877 PMID:9536098 PMID:17576681 PMID:24033266 PMID:25048963 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr 2:44,636,820...44,644,551
Ensembl chr 2:44,636,856...44,642,601
|
|
G |
Mcm3ap |
minichromosome maintenance complex component 3 associated protein |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:12,127,570...12,165,165
Ensembl chr20:12,127,570...12,165,165
|
|
G |
Melk |
maternal embryonic leucine zipper kinase |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,540,393...58,600,562
Ensembl chr 5:58,540,449...58,600,937
|
|
G |
Mgat2 |
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177
|
|
G |
Mlycd |
malonyl-CoA decarboxylase |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793
|
|
G |
Mon1a |
MON1 homolog A, secretory trafficking associated |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:108,574,272...108,593,163
Ensembl chr 8:108,574,388...108,593,156
|
|
G |
Msmp |
microseminoprotein, prostate associated |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985
|
|
G |
Mst1r |
macrophage stimulating 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:108,596,100...108,611,441
Ensembl chr 8:108,597,299...108,612,455
|
|
G |
Myorg |
myogenesis regulating glycosidase |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,654,257...56,664,467
Ensembl chr 5:56,648,643...56,664,440
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|
G |
Naa80 |
N(alpha)-acetyltransferase 80, NatH catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:108,254,314...108,257,564
Ensembl chr 8:108,253,302...108,257,563
|
|
G |
Ndufb6 |
NADH:ubiquinone oxidoreductase subunit B6 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:55,400,543...55,410,110
Ensembl chr 5:55,400,543...55,410,181
|
|
G |
Ndufv3 |
NADH:ubiquinone oxidoreductase subunit V3 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:9,612,462...9,621,622
Ensembl chr20:9,612,431...9,623,074 Ensembl chr13:9,612,431...9,623,074
|
|
G |
Necab2 |
N-terminal EF-hand calcium binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr19:47,501,351...47,527,722
Ensembl chr19:47,501,302...47,527,684
|
|
G |
Nfx1 |
nuclear transcription factor, X-box binding 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,104,945...56,162,912
Ensembl chr 5:56,105,234...56,162,912
|
|
G |
Nme8 |
NME/NM23 family member 8 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:16199547 PMID:17360648 PMID:20301301 PMID:22499950 PMID:24033266 PMID:25741868 PMID:28492532 More...
|
|
NCBI chr17:45,237,022...45,304,948
Ensembl chr17:45,238,120...45,304,948
|
|
G |
Nol6 |
nucleolar protein 6 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,259,919...56,270,540
Ensembl chr 5:56,260,830...56,270,336
|
|
G |
Npr2 |
natriuretic peptide receptor 2 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
|
|
G |
Nprl2 |
NPR2-like, GATOR1 complex subunit |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:108,215,823...108,218,996
Ensembl chr 8:108,215,814...108,218,996
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|
G |
Nudt2 |
nudix hydrolase 2 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104
|
|
G |
Odad1 |
outer dynein arm docking complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23261302 PMID:23261303 PMID:24033266 PMID:25741868 PMID:27637300 PMID:28492532 PMID:30067075 PMID:30291279 PMID:31213628 PMID:32111882 More...
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|
NCBI chr 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925
|
|
G |
Odad2 |
outer dynein arm docking complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23806086 PMID:23849778 PMID:24033266 PMID:24088041 PMID:25741868 PMID:27637300 PMID:28492532 PMID:33577779 More...
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|
NCBI chr17:55,216,877...55,409,872
Ensembl chr17:55,218,991...55,409,399
|
|
G |
Odad3 |
outer dynein arm docking complex subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499
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|
G |
Odad4 |
outer dynein arm docking complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:25741868 |
|
NCBI chr10:85,480,089...85,508,603
Ensembl chr10:85,480,094...85,508,603
|
|
G |
Ofd1 |
Ofd1 centriole and centriolar satellite protein |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:11179005 PMID:12595504 PMID:16783569 PMID:18414213 PMID:18546297 PMID:25741868 PMID:26467025 PMID:26477546 PMID:27081566 PMID:28492532 PMID:31373179 PMID:35728977 More...
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|
NCBI chr X:28,015,347...28,056,115
Ensembl chr X:28,015,347...28,056,110
|
|
G |
Or13c7 |
olfactory receptor family 13 subfamily C member 7 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852
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|
G |
Or13j1 |
olfactory receptor family 13 subfamily J member 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853
|
|
G |
Osgin1 |
oxidative stress induced growth inhibitor 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr19:47,471,750...47,500,517
Ensembl chr19:47,492,171...47,500,516
|
|
G |
Otc |
ornithine transcarbamylase |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
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|
NCBI chr X:12,453,834...12,529,954
Ensembl chr X:12,453,834...12,566,918
|
|
G |
Pax5 |
paired box 5 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:58,765,036...58,944,326
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|
G |
Pcbp3 |
poly(rC) binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:11,678,218...11,878,210
Ensembl chr20:11,678,269...11,878,210
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|
G |
Pcnt |
pericentrin |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
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|
G |
Pcsk5 |
proprotein convertase subtilisin/kexin type 5 |
|
ISS |
|
MouseDO |
|
|
NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600
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G |
Pde9a |
phosphodiesterase 9A |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948
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|
G |
Pfkl |
phosphofructokinase, liver type |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,664,285...10,686,324
Ensembl chr20:10,664,272...10,686,315
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|
G |
Phf24 |
PHD finger protein 24 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497
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|
G |
Pigo |
phosphatidylinositol glycan anchor biosynthesis, class O |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146
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|
G |
Pknox1 |
PBX/knotted 1 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:9,662,866...9,705,030
Ensembl chr20:9,662,899...9,703,727
|
|
G |
Pofut2 |
protein O-fucosyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:11,367,073...11,377,788
Ensembl chr20:11,367,096...11,377,743
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|
G |
Pole2 |
DNA polymerase epsilon 2, accessory subunit |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:87,674,702...87,712,723
Ensembl chr 6:87,674,702...87,699,305
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Polr1c |
RNA polymerase I and III subunit C |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:16199547 PMID:19200523 PMID:22384920 PMID:23993197 PMID:24033266 PMID:24307375 PMID:25741868 PMID:25789548 PMID:28492532 PMID:30067075 More...
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NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
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G |
Polr1e |
RNA polymerase I subunit E |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:59,279,456...59,295,346
Ensembl chr 5:59,279,460...59,295,369
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G |
Prdm15 |
PR/SET domain 15 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr11:37,164,608...37,225,172
Ensembl chr11:37,165,575...37,222,207
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G |
Prkar1b |
protein kinase cAMP-dependent type I regulatory subunit beta |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:24307375 PMID:25232951 PMID:25741868 PMID:28492532 |
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NCBI chr12:15,492,233...15,624,942
Ensembl chr12:15,511,801...15,624,942
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G |
Prss3 |
serine protease 3 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 4:70,203,088...70,206,562
Ensembl chr 4:70,203,088...70,206,562
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G |
Pttg1ip |
PTTG1 interacting protein |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:11,030,013...11,047,742
Ensembl chr20:11,030,015...11,047,316
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G |
Pwp2 |
PWP2, small subunit processome component |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,499,332...10,512,965
Ensembl chr20:10,499,363...10,513,640
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Rag1 |
recombination activating 1 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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G |
Rapgef5 |
Rap guanine nucleotide exchange factor 5 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532 More...
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NCBI chr 6:138,445,184...138,679,943
Ensembl chr 6:138,437,991...138,679,936
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G |
Rassf1 |
Ras association domain family member 1 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164
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G |
Rbm5 |
RNA binding motif protein 5 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 8:108,420,220...108,449,481
Ensembl chr 8:108,420,222...108,449,430
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G |
Rbm6 |
RNA binding motif protein 6 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 8:108,452,687...108,552,783
Ensembl chr 8:108,452,687...108,552,771
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G |
Reck |
reversion-inducing-cysteine-rich protein with kazal motifs |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,102,961...58,169,516
Ensembl chr 5:58,102,981...58,169,502
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Rfx6 |
regulatory factor X, 6 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:31,019,784...31,073,266
Ensembl chr20:31,019,829...31,073,147
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G |
Rgp1 |
RGP1 homolog, RAB6A GEF complex partner 1 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086
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G |
Rig1 |
RNA sensor RIG-1 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:55,321,351...55,369,947
Ensembl chr 5:55,321,235...55,370,819
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G |
Ripk4 |
receptor-interacting serine-threonine kinase 4 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
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G |
Rn7sl1 |
RNA component of signal recognition particle 7SL1 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 6:87,636,808...87,637,106
Ensembl chr 6:87,636,804...87,637,103
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G |
Rnf38 |
ring finger protein 38 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,358,771...58,467,424
Ensembl chr 5:58,361,976...58,467,446
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G |
Rpgr |
retinitis pigmentosa GTPase regulator |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:8673101 PMID:8817343 PMID:9326322 PMID:9331262 PMID:9399904 PMID:9536098 PMID:9855162 PMID:9990021 PMID:10480356 PMID:10482958 PMID:10737996 PMID:10932196 PMID:10937588 PMID:10946359 PMID:11180598 PMID:11754050 PMID:11793468 PMID:11857109 PMID:11875055 PMID:11992260 PMID:12160730 PMID:12402343 PMID:12657579 PMID:12859409 PMID:14564670 PMID:15734019 PMID:16055928 PMID:16199547 PMID:16387007 PMID:16786505 PMID:16936086 PMID:16969763 PMID:17195164 PMID:17405150 PMID:17480003 PMID:17576681 PMID:17724181 PMID:17898302 PMID:18332319 PMID:18487280 PMID:18552978 PMID:19138872 PMID:19218993 PMID:19475717 PMID:19783189 PMID:19815619 PMID:20631154 PMID:20861475 PMID:21326217 PMID:21857984 PMID:21866333 PMID:22264887 PMID:22382802 PMID:22494545 PMID:22888088 PMID:23150612 PMID:23213406 PMID:23372056 PMID:23443027 PMID:23591405 PMID:23681342 PMID:23847139 PMID:23950152 PMID:24033266 PMID:25097241 PMID:25283059 PMID:25352739 PMID:25356976 PMID:25640679 PMID:25741868 PMID:26197217 PMID:26261414 PMID:26747767 PMID:26766544 PMID:27596865 PMID:27620828 PMID:27768226 PMID:28041643 PMID:28127548 PMID:28157192 PMID:28322733 PMID:28492532 PMID:28559085 PMID:28863407 PMID:28912962 PMID:29276052 PMID:29528978 PMID:29555955 PMID:29641573 PMID:29721948 PMID:29769798 PMID:29785639 PMID:30029497 PMID:30067075 PMID:30105367 PMID:30193314 PMID:30337596 PMID:30543658 PMID:30567410 PMID:30622176 PMID:30718709 PMID:30887160 PMID:30902645 PMID:30917587 PMID:30924848 PMID:31054281 PMID:31087526 PMID:31213501 PMID:31456290 PMID:31630094 PMID:31645972 PMID:31804667 PMID:31953110 PMID:31960602 PMID:32000842 PMID:32036094 PMID:32037395 PMID:32326409 PMID:32531858 PMID:32679846 PMID:32702353 PMID:32788070 PMID:32856788 PMID:33090715 PMID:33355362 PMID:33467000 PMID:33546218 PMID:33576794 PMID:34327195 PMID:34828430 PMID:34906470 PMID:34946927 PMID:34985506 PMID:35432464 PMID:35806195 PMID:35836572 PMID:35892439 PMID:36909829 More...
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NCBI chr X:12,566,447...12,628,171
Ensembl chr X:12,566,645...12,747,882
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G |
Rpl36al1 |
ribosomal protein L36A like 1 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 6:87,654,808...87,656,202
Ensembl chr X:97,766,179...97,768,892 Ensembl chr10:97,766,179...97,768,892
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G |
Rpp25l |
ribonuclease P/MRP subunit p25 like |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013
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G |
Rps29 |
ribosomal protein S29 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 6:87,635,229...87,636,627
Ensembl chr 6:87,635,230...87,636,636
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G |
Rrp1 |
ribosomal RNA processing 1 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,260,892...10,272,141
Ensembl chr20:10,260,870...10,272,144
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G |
Rrp1b |
ribosomal RNA processing 1B |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,123,111...10,148,704
Ensembl chr20:10,123,125...10,147,928
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G |
Rsph1 |
radial spoke head component 1 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23993197 PMID:24033266 PMID:24518672 PMID:24568568 PMID:25741868 PMID:25789548 PMID:26139845 PMID:28492532 PMID:31772028 More...
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NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640
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G |
Rsph3 |
radial spoke head 3 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:47,101,961...47,155,201
Ensembl chr 1:47,101,961...47,154,232
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G |
Rsph4a |
radial spoke head component 4A |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19200523 PMID:20301301 PMID:22448264 PMID:23798057 PMID:23993197 PMID:24033266 PMID:25741868 PMID:25789548 PMID:27637300 PMID:27848944 PMID:28492532 PMID:31130284 PMID:32253119 PMID:34513534 PMID:34768622 More...
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NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574
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G |
Rsph9 |
radial spoke head component 9 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:16199547 PMID:19200523 PMID:22384920 PMID:23993197 PMID:24033266 PMID:24307375 PMID:25741868 PMID:25789548 PMID:28492532 PMID:30067075 More...
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NCBI chr 9:14,840,115...14,852,950
Ensembl chr 9:14,840,115...14,860,062
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G |
Rusc2 |
RUN and SH3 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524
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G |
Sema3b |
semaphorin 3B |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 8:108,271,663...108,280,326
Ensembl chr 8:108,271,666...108,282,919
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G |
Sema3f |
semaphorin 3F |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 8:108,357,629...108,386,569
Ensembl chr 8:108,357,629...108,387,083
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G |
Sigmar1 |
sigma non-opioid intracellular receptor 1 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017
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G |
Sik1 |
salt-inducible kinase 1 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:9,949,407...9,959,036
Ensembl chr20:9,947,396...9,958,991
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G |
Sit1 |
signaling threshold regulating transmembrane adaptor 1 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838
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G |
Slc19a1 |
solute carrier family 19 member 1 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
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G |
Slc37a1 |
solute carrier family 37 member 1 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:9,360,501...9,433,895
Ensembl chr20:9,378,836...9,433,892
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G |
Slc38a3 |
solute carrier family 38, member 3 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 8:108,323,889...108,339,959
Ensembl chr 8:108,323,894...108,339,988
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G |
Slc38a8 |
solute carrier family 38, member 8 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr19:47,522,781...47,561,443
Ensembl chr19:47,525,301...47,554,726
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G |
Slit2 |
slit guidance ligand 2 |
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ISS |
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MouseDO |
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NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
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G |
Slx9 |
SLX9 ribosome biogenesis factor |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:11,114,632...11,147,532
Ensembl chr20:11,114,589...11,147,521
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G |
Smu1 |
SMU1, DNA replication regulator and spliceosomal factor |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:55,856,691...55,875,262
Ensembl chr 5:55,856,246...55,875,300
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G |
Sp4 |
Sp4 transcription factor |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532 More...
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NCBI chr 6:139,187,458...139,252,741
Ensembl chr 6:139,192,147...139,252,126
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G |
Spag1 |
sperm associated antigen 1 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:24033266 PMID:24055112 PMID:25741868 PMID:26228299 PMID:27637300 PMID:28492532 PMID:30067075 More...
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NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368
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G |
Spag8 |
sperm associated antigen 8 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894
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G |
Spata31f1 |
SPATA31 subfamily F member 1 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,065,743...57,071,880
Ensembl chr 5:57,065,747...57,071,738
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G |
Spata31g1 |
SPATA31 subfamily G member 1 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,199,980...57,204,069
Ensembl chr 5:57,200,000...57,204,070
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G |
Spatc1l |
spermatogenesis and centriole associated 1-like |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:12,074,040...12,083,873
Ensembl chr20:12,074,047...12,083,301
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G |
Spef2 |
sperm flagellar 2 |
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ISS ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
MouseDO ClinVar |
PMID:31942643 |
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NCBI chr 2:58,512,489...58,694,718
Ensembl chr 2:58,512,489...58,694,664
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G |
Spink4 |
serine peptidase inhibitor, Kazal type 4 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,043,936...56,064,841
Ensembl chr 5:55,981,624...56,064,795
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G |
Spmip6 |
sperm microtubule inner protein 6 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,666,160...56,678,865
Ensembl chr 5:56,666,058...56,678,923
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G |
Srpx |
sushi-repeat-containing protein, X-linked |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr X:12,676,984...12,751,296
Ensembl chr X:12,566,645...12,747,882
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G |
Stoml2 |
stomatin like 2 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920
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G |
Sumo3 |
small ubiquitin-like modifier 3 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:11,010,140...11,020,850
Ensembl chr20:11,007,148...11,020,877 Ensembl chr20:11,007,148...11,020,877
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G |
Sytl5 |
synaptotagmin-like 5 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr X:12,775,529...13,030,134
Ensembl chr X:12,788,698...13,030,175
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G |
Taf1c |
TATA-box binding protein associated factor, RNA polymerase 1 subunit C |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:19944400 PMID:19944405 PMID:24033266 PMID:28492532 |
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NCBI chr19:47,652,451...47,658,971
Ensembl chr19:47,652,452...47,658,971
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G |
Tesk1 |
testis associated actin remodelling kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698
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G |
Tff1 |
trefoil factor 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597
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G |
Tff2 |
trefoil factor 2 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:9,215,750...9,219,619
Ensembl chr20:9,215,761...9,219,619
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G |
Tff3 |
trefoil factor 3 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054
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G |
Tln1 |
talin 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900
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G |
Tmem115 |
transmembrane protein 115 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 8:108,207,463...108,212,327
Ensembl chr 8:108,207,654...108,212,298
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G |
Tmem215 |
transmembrane protein 215 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:55,612,568...55,615,828
Ensembl chr 5:55,612,568...55,615,828
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G |
Tmem8b |
transmembrane protein 8B |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772
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G |
Tmprss3 |
transmembrane serine protease 3 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363
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G |
Tnni3 |
troponin I3, cardiac type |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:22387996 PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
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G |
Tnnt1 |
troponin T1, slow skeletal type |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:22387996 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:69,306,362...69,316,721
Ensembl chr 1:69,306,362...69,316,721
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G |
Tomm5 |
translocase of outer mitochondrial membrane 5 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:59,362,360...59,365,191
Ensembl chr 5:59,362,240...59,365,269
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G |
Tomm7 |
translocase of outer mitochondrial membrane 7 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532 More...
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NCBI chr 4:11,305,122...11,311,963
Ensembl chr 4:11,305,110...11,311,962
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G |
Topors |
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:55,388,033...55,399,937
Ensembl chr 5:55,387,632...55,399,937
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G |
Tpm2 |
tropomyosin 2 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
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G |
Traip |
TRAF-interacting protein |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 8:108,641,860...108,661,640
Ensembl chr 8:108,641,852...108,661,638
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G |
Trappc10 |
trafficking protein particle complex subunit 10 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074
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G |
Trio |
trio Rho guanine nucleotide exchange factor |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:78,505,069...78,801,384
Ensembl chr 2:78,505,070...78,803,135
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G |
Trmt10b |
tRNA methyltransferase 10B |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 5:59,548,845...59,572,529
Ensembl chr 5:59,548,869...59,572,526
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G |
Trpm2 |
transient receptor potential cation channel, subfamily M, member 2 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,703,568...10,753,189
Ensembl chr20:10,707,014...10,753,181
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G |
Tspear |
thrombospondin-type laminin G domain and EAR repeats |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr20:10,771,806...10,837,419
Ensembl chr20:10,772,219...10,943,914
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G |
Ttc14 |
tetratricopeptide repeat domain 14 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21131972 PMID:23255504 PMID:23891469 PMID:24033266 PMID:25741868 PMID:28492532 PMID:33005176 More...
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NCBI chr 2:116,653,543...116,665,072
Ensembl chr 2:116,653,595...116,664,158
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G |
Ttll1 |
TTL family tubulin polyglutamylase complex subunit L1 |
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ISS |
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MouseDO |
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NCBI chr 7:114,619,509...114,648,850
Ensembl chr 7:114,619,508...114,648,761
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G |
Tusc2 |
tumor suppressor 2, mitochondrial calcium regulator |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:108,236,838...108,240,056
Ensembl chr 8:108,236,838...108,240,056
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G |
U2af1 |
U2 small nuclear RNA auxiliary factor 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832
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G |
Ubap1 |
ubiquitin-associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,520,722...56,561,153
Ensembl chr 5:56,520,743...56,561,152
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G |
Ubap2 |
ubiquitin-associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,348,243...56,437,403
Ensembl chr 5:56,348,246...56,437,049
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G |
Ubash3a |
ubiquitin associated and SH3 domain containing, A |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:9,291,471...9,334,685
Ensembl chr20:9,292,139...9,329,224
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G |
Ube2g2 |
ubiquitin-conjugating enzyme E2G 2 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:10,983,734...11,005,468
Ensembl chr20:10,983,742...11,005,447
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G |
Ube2r2 |
ubiquitin-conjugating enzyme E2R 2 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:56,286,604...56,345,160
Ensembl chr 5:56,286,725...56,345,513
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G |
Umodl1 |
uromodulin-like 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:9,027,751...9,087,133
Ensembl chr20:9,025,724...9,087,146
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G |
Unc13b |
unc-13 homolog B |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926
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G |
Vcp |
valosin-containing protein |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
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G |
Vps13b |
vacuolar protein sorting 13 homolog B |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
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G |
Wdr4 |
WD repeat domain 4 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581
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G |
Xk |
X-linked Kx blood group antigen, Kell and VPS13A binding protein |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr X:13,436,412...13,472,830
Ensembl chr X:13,436,418...13,472,830
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G |
Ybey |
ybeY metalloendoribonuclease |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:12,165,192...12,174,713
Ensembl chr20:12,165,237...12,174,713
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G |
Zbtb21 |
zinc finger and BTB domain containing 21 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr11:37,312,337...37,327,040
Ensembl chr11:37,312,378...37,326,996
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G |
Zbtb5 |
zinc finger and BTB domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:59,244,132...59,265,461
Ensembl chr 5:59,243,307...59,265,426
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G |
Zcchc7 |
zinc finger CCHC-type containing 7 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr 5:58,992,558...59,173,308
Ensembl chr 5:58,993,290...59,173,300
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G |
Zmynd10 |
zinc finger, MYND-type containing 10 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23891469 PMID:23891471 PMID:25741868 PMID:26139845 PMID:26824761 PMID:28492532 PMID:31650533 PMID:31879361 PMID:33635866 More...
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NCBI chr 8:108,220,386...108,224,745
Ensembl chr 8:108,220,386...108,224,744
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G |
Zup1 |
zinc finger containing ubiquitin peptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia |
ClinVar |
PMID:28492532 |
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NCBI chr20:30,785,226...30,815,377
Ensembl chr20:30,785,227...30,815,306
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G |
Dnai1 |
dynein, axonemal, intermediate chain 1 |
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ISO ISS |
ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: DNAI1-related condition OMIM:244400 |
OMIM ClinVar MouseDO |
PMID:9536098 PMID:11231901 PMID:16858015 PMID:17576681 PMID:19300481 PMID:21143860 PMID:24033266 PMID:25741868 PMID:25802884 PMID:28492532 PMID:30868567 PMID:31772028 PMID:33715250 More...
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NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
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G |
Rsph1 |
radial spoke head component 1 |
|
ISO |
ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS |
ClinVar |
PMID:23993197 PMID:24518672 PMID:24568568 PMID:25741868 PMID:25789548 PMID:28492532 More...
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NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640
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G |
Dnaaf2 |
dynein, axonemal, assembly factor 2 |
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ISO ISS |
ClinVar Annotator: match by term: DNAAF2-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 10 OMIM:612518 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:19052621 PMID:24033266 PMID:24498942 PMID:25741868 PMID:28492532 PMID:32638265 More...
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NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199
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G |
Mgat2 |
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 10 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177
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G |
Rsph4a |
radial spoke head component 4A |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 11 | ClinVar Annotator: match by term: RSPH4A-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19200523 PMID:20301301 PMID:22448264 PMID:23798057 PMID:23993197 PMID:24033266 PMID:25741868 PMID:25789548 PMID:27848944 PMID:28492532 PMID:31130284 PMID:32253119 PMID:34513534 PMID:34768622 More...
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NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574
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G |
Polr1c |
RNA polymerase I and III subunit C |
|
ISO |
ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 12, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 12 |
ClinVar |
PMID:19200523 PMID:23993197 PMID:24033266 PMID:25741868 PMID:28492532 |
|
NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
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G |
Rsph9 |
radial spoke head component 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 12, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 12 |
OMIM CTD ClinVar |
PMID:19200523 PMID:23993197 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 9:14,840,115...14,852,950
Ensembl chr 9:14,840,115...14,860,062
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G |
Dnaaf1 |
dynein, axonemal, assembly factor 1 |
|
ISO |
ClinVar Annotator: match by term: DNAAF1-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 13 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19944400 PMID:19944405 PMID:22499950 PMID:23599692 PMID:24033266 PMID:24498942 PMID:25158045 PMID:25741868 PMID:27543293 PMID:27884173 PMID:28492532 More...
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NCBI chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313
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G |
Taf1c |
TATA-box binding protein associated factor, RNA polymerase 1 subunit C |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 13 |
ClinVar |
PMID:25741868 |
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NCBI chr19:47,652,451...47,658,971
Ensembl chr19:47,652,452...47,658,971
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G |
Ccdc39 |
coiled-coil domain 39 molecular ruler complex subunit |
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ISO ISS |
ClinVar Annotator: match by term: CCDC39-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 14 OMIM:613807 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21131972 PMID:22499950 PMID:22693285 PMID:22693295 PMID:23255504 PMID:23891469 PMID:24033266 PMID:24498942 PMID:25118008 PMID:25186273 PMID:25741868 PMID:27637300 PMID:28492532 PMID:29748307 PMID:30067075 PMID:31213628 PMID:31650533 PMID:31772028 PMID:31980526 PMID:32253119 PMID:33942430 PMID:34674941 PMID:34768622 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 |
Ttc14 |
tetratricopeptide repeat domain 14 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 14 |
ClinVar |
PMID:21131972 PMID:23255504 PMID:23891469 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr 2:116,653,543...116,665,072
Ensembl chr 2:116,653,595...116,664,158
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G |
Ccdc40 |
coiled-coil domain 40 molecular ruler complex subunit |
|
ISO |
ClinVar Annotator: match by term: CCDC40-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 15 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21131974 PMID:22499950 PMID:22693285 PMID:23255504 PMID:23261302 PMID:23891469 PMID:24033266 PMID:25619595 PMID:25741868 PMID:25877373 PMID:26228299 PMID:28492532 PMID:30067075 PMID:31213628 PMID:31443223 PMID:31507630 PMID:31589614 PMID:31650533 PMID:31772028 PMID:31879361 PMID:31980526 PMID:34768622 PMID:35626283 PMID:37260176 More...
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NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
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G |
Gaa |
alpha glucosidase |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 15 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836
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G |
Aldh6a1 |
aldehyde dehydrogenase 6 family, member A1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656
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G |
Bbof1 |
basal body orientation factor 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:104,055,246...104,081,036
Ensembl chr 6:104,055,241...104,082,071
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G |
Coq6 |
coenzyme Q6 monooxygenase |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:104,007,814...104,019,888
Ensembl chr 6:104,007,872...104,024,657
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G |
Dnal1 |
dynein, axonemal, light chain 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:21496787 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 6:103,747,801...103,779,015
Ensembl chr 6:103,747,753...103,778,878
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G |
Entpd5 |
ectonucleoside triphosphate diphosphohydrolase 5 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:104,019,095...104,055,311
Ensembl chr 6:104,019,185...104,055,530
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G |
Fam161b |
FAM161 centrosomal protein B |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:103,990,603...104,007,754
Ensembl chr 6:103,992,170...104,018,776
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G |
Lin52 |
lin-52 DREAM MuvB core complex component |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:104,098,818...104,199,323
Ensembl chr 6:104,099,162...104,194,103
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G |
Mideas |
mitotic deacetylase associated SANT domain protein |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:103,784,779...103,854,470
Ensembl chr 6:103,787,873...103,829,178
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G |
Pnma1 |
PNMA family member 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:103,782,244...103,784,029
Ensembl chr 6:103,773,889...103,784,567
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G |
Ptgr2 |
prostaglandin reductase 2 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:103,931,367...103,963,113
Ensembl chr 6:103,931,409...103,963,111
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G |
Vsx2 |
visual system homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:104,214,842...104,240,264
Ensembl chr 6:104,217,230...104,240,018
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Zfp410 |
zinc finger protein 410 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 |
ClinVar |
PMID:28492532 |
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NCBI chr 6:103,963,265...103,990,252
Ensembl chr 6:103,964,060...103,990,225
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Ccdc103 |
coiled-coil domain containing 103 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Primary ciliary dyskinesia 17 |
OMIM CTD ClinVar |
PMID:22581229 PMID:23891469 PMID:24033266 PMID:24357714 PMID:25326635 PMID:25741868 PMID:26123568 PMID:27637300 PMID:28492532 PMID:28790179 PMID:30067075 More...
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NCBI chr10:87,846,327...87,849,959
Ensembl chr10:87,846,357...87,849,757
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FAM187A |
family with sequence similarity 187, member A |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 17 |
ClinVar |
PMID:28492532 |
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NCBI chr10:87,850,861...87,852,332
Ensembl chr10:87,846,285...87,852,471
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Gfap |
glial fibrillary acidic protein |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 17 |
ClinVar |
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NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
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G |
Cplx1 |
complexin 1 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 18 |
ClinVar |
PMID:25741868 |
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NCBI chr14:1,184,677...1,216,392
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Dnaaf5 |
dynein, axonemal, assembly factor 5 |
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ISO |
ClinVar Annotator: match by term: DNAAF5-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 18 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301301 PMID:23040496 PMID:24033266 PMID:24307375 PMID:25232951 PMID:25741868 PMID:28492532 PMID:29358401 PMID:29363216 PMID:37104040 More...
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NCBI chr12:15,453,636...15,492,722
Ensembl chr12:15,453,636...15,492,739
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G |
Prkar1b |
protein kinase cAMP-dependent type I regulatory subunit beta |
|
ISO |
ClinVar Annotator: match by term: DNAAF5-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 18 |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29363216 |
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NCBI chr12:15,492,233...15,624,942
Ensembl chr12:15,511,801...15,624,942
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Dnaaf11 |
dynein axonemal assembly factor 11 |
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ISO ISS |
ClinVar Annotator: match by term: DNAAF11-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 19 OMIM:614935 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301301 PMID:23122589 PMID:23527195 PMID:23891469 PMID:24033266 PMID:24307375 PMID:25741868 PMID:26139845 PMID:26228299 PMID:27637300 PMID:28492532 PMID:30300419 PMID:31650533 More...
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NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
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Dnaaf3 |
dynein, axonemal, assembly factor 3 |
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ISO ISS |
ClinVar Annotator: match by term: DNAAF3-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 2 OMIM:606763 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:10745040 PMID:17576681 PMID:22387996 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31213628 PMID:34401452 More...
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NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
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Tnni3 |
troponin I3, cardiac type |
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ISO |
ClinVar Annotator: match by term: DNAAF3-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 2 |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
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Odad1 |
outer dynein arm docking complex subunit 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Primary ciliary dyskinesia 20 |
OMIM CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23261302 PMID:23261303 PMID:25741868 PMID:27637300 PMID:28492532 PMID:30067075 PMID:32111882 More...
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NCBI chr 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925
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Drc1 |
dynein regulatory complex subunit 1 |
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ISO ISS |
OMIM:615294 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Primary ciliary dyskinesia 21 |
OMIM MouseDO CTD ClinVar |
PMID:12746204 PMID:16199547 PMID:23354437 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31213628 PMID:31270959 PMID:31701675 PMID:31960620 More...
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NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414
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G |
Zmynd10 |
zinc finger, MYND-type containing 10 |
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ISO ISS |
OMIM:615444 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Primary ciliary dyskinesia 22 | ClinVar Annotator: match by term: ZMYND10-related condition |
OMIM MouseDO CTD ClinVar |
PMID:23891469 PMID:23891471 PMID:25741868 PMID:26139845 PMID:28492532 PMID:31650533 PMID:33635866 More...
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NCBI chr 8:108,220,386...108,224,745
Ensembl chr 8:108,220,386...108,224,744
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G |
Odad2 |
outer dynein arm docking complex subunit 2 |
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ISO ISS |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 23 OMIM:615451 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23806086 PMID:23849778 PMID:24033266 PMID:24088041 PMID:24203976 PMID:25741868 PMID:26139845 PMID:27637300 PMID:28492532 PMID:31213628 PMID:31650533 PMID:33577779 PMID:34670123 More...
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NCBI chr17:55,216,877...55,409,872
Ensembl chr17:55,218,991...55,409,399
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G |
Rsph1 |
radial spoke head component 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 24, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 24 |
OMIM CTD ClinVar |
PMID:9536098 PMID:17576681 PMID:23993197 PMID:24033266 PMID:24518672 PMID:24568568 PMID:25741868 PMID:25789548 PMID:26139845 PMID:28492532 PMID:31772028 More...
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NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640
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Dnaaf4 |
dynein axonemal assembly factor 4 |
susceptibility |
ISO ISS |
ClinVar Annotator: match by term: DNAAF4-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 25 OMIM:615482 CTD Direct Evidence: marker/mechanism |
ClinVar OMIM MouseDO CTD |
PMID:12954984 PMID:23872636 PMID:24033266 PMID:24824133 PMID:25186273 PMID:25741868 PMID:26139845 PMID:28492532 PMID:30067075 PMID:30290127 PMID:33760720 More...
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NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292
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G |
Cfap298 |
cilia and flagella associated protein 298 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Primary ciliary dyskinesia 26 |
OMIM CTD ClinVar |
PMID:24094744 PMID:25741868 PMID:28492532 |
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NCBI chr11:30,181,916...30,191,302
Ensembl chr11:30,181,905...30,191,346
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G |
Ccdc65 |
coiled-coil domain containing 65 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Primary ciliary dyskinesia 27 |
OMIM CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23991085 PMID:24033266 PMID:24094744 PMID:25741868 PMID:28492532 More...
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NCBI chr 7:129,857,118...129,870,803
Ensembl chr 7:129,857,247...129,870,803
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G |
Polr2k |
RNA polymerase II, I and III subunit K |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 28 |
ClinVar |
PMID:24055112 |
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NCBI chr 7:67,347,118...67,359,466
Ensembl chr 7:67,356,113...67,357,668
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G |
Spag1 |
sperm associated antigen 1 |
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ISO |
ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 28, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 28 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24055112 PMID:25741868 PMID:26139845 PMID:26228299 PMID:27637300 PMID:28492532 PMID:30067075 PMID:35178554 More...
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NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368
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G |
Vps13b |
vacuolar protein sorting 13 homolog B |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 28 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
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G |
Ccno |
cyclin O |
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ISO |
ClinVar Annotator: match by term: CCNO-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 29 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:24747639 PMID:25741868 PMID:26139845 PMID:28492532 PMID:30067075 PMID:31879361 PMID:31980526 PMID:32367404 PMID:32622824 PMID:331765523 More...
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NCBI chr 2:44,630,873...44,633,912
Ensembl chr 2:44,626,369...44,633,914
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Gcdh |
glutaryl-CoA dehydrogenase |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 29 |
ClinVar |
PMID:8900227 PMID:9600243 PMID:10649503 PMID:10699052 PMID:10960496 PMID:11073722 PMID:18775954 PMID:20732827 PMID:24973495 PMID:25256449 PMID:25741868 PMID:25762492 PMID:28352331 PMID:28438223 PMID:28492532 PMID:28794906 PMID:30570710 PMID:31062211 PMID:31536184 More...
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NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
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G |
Bach2 |
BTB domain and CNC homolog 2 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:46,632,338...46,982,676
Ensembl chr 5:46,638,317...46,977,877
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G |
Ccdc40 |
coiled-coil domain 40 molecular ruler complex subunit |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 |
ClinVar |
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NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
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Dnah11 |
dynein, axonemal, heavy chain 11 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 |
ClinVar |
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NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
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G |
Dnah5 |
dynein, axonemal, heavy chain 5 |
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ISO ISS |
ClinVar Annotator: match by term: DNAH5-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 OMIM:608644 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:2127064 PMID:2389146 PMID:9536098 PMID:11062149 PMID:11788826 PMID:11912187 PMID:15750039 PMID:16199547 PMID:16492982 PMID:16627867 PMID:17534128 PMID:17576681 PMID:18492703 PMID:18950741 PMID:19357118 PMID:19630565 PMID:20301301 PMID:21270641 PMID:22416021 PMID:22499950 PMID:23261302 PMID:23477994 PMID:23891469 PMID:24033266 PMID:24150548 PMID:24448499 PMID:24498942 PMID:25066065 PMID:25118008 PMID:25186273 PMID:25326635 PMID:25741868 PMID:25802884 PMID:26139845 PMID:26228299 PMID:26373788 PMID:26918822 PMID:26938784 PMID:27637300 PMID:27779714 PMID:28492532 PMID:29089047 PMID:29363216 PMID:29402277 PMID:29453417 PMID:30067075 PMID:30293990 PMID:30300419 PMID:31213628 PMID:31443223 PMID:31589614 PMID:31624253 PMID:31638833 PMID:31772028 PMID:31879361 PMID:32357925 PMID:32367404 PMID:32502479 PMID:32502767 PMID:33574797 PMID:33589394 PMID:33635012 PMID:37860582 More...
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NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
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Gas2l2 |
growth arrest-specific 2 like 2 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 |
ClinVar |
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NCBI chr10:68,222,475...68,229,877
Ensembl chr10:68,222,475...68,229,881
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Mcidas |
multiciliate differentiation and DNA synthesis associated cell cycle protein |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 |
ClinVar |
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NCBI chr 2:44,636,820...44,644,551
Ensembl chr 2:44,636,856...44,642,601
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Mpeg1 |
macrophage expressed 1 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 |
ClinVar |
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NCBI chr 1:209,452,176...209,456,692
Ensembl chr 1:209,452,133...209,458,855
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G |
Nfkb1 |
nuclear factor kappa B subunit 1 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 |
ClinVar |
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NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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G |
Odad3 |
outer dynein arm docking complex subunit 3 |
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ISO ISS |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 30 OMIM:616037 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25192045 PMID:25224326 PMID:25741868 PMID:28492532 PMID:31130284 PMID:31213628 PMID:32111882 More...
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NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499
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G |
Prkcsh |
PRKCSH beta subunit of glucosidase II |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 30 |
ClinVar |
PMID:25741868 |
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NCBI chr 8:20,534,787...20,546,493
Ensembl chr 8:20,534,880...20,546,492
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Dynlt1 |
dynein light chain Tctex-type 1 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:46,887,017...46,893,956
Ensembl chr 1:46,887,017...46,893,881
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G |
Ezr |
ezrin |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:46,967,961...47,011,505
Ensembl chr 1:46,967,658...47,011,505
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G |
Fndc1 |
fibronectin type III domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:47,281,839...47,364,247
Ensembl chr 1:47,281,844...47,364,259
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Gtf2h5 |
general transcription factor IIH subunit 5 |
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ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:46,656,804...46,663,512
Ensembl chr 1:46,656,859...46,664,939
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G |
Rsph3 |
radial spoke head 3 |
|
ISO |
ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 32, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26073779 PMID:28492532 More...
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NCBI chr 1:47,101,961...47,155,201
Ensembl chr 1:47,101,961...47,154,232
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G |
Serac1 |
serine active site containing 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:46,620,741...46,656,801
Ensembl chr 1:46,620,498...46,656,727
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G |
Sod2 |
superoxide dismutase 2 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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G |
Sytl3 |
synaptotagmin-like 3 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:46,896,308...46,967,461
Ensembl chr 1:46,911,217...46,967,460
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G |
Tagap |
T-cell activation RhoGTPase activating protein |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:47,170,725...47,179,705
Ensembl chr 1:47,170,725...47,179,792
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G |
Tmem181 |
transmembrane protein 181 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:46,830,812...46,885,173
Ensembl chr 1:46,830,710...46,884,295
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G |
Tulp4 |
TUB like protein 4 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 |
ClinVar |
PMID:28492532 |
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NCBI chr 1:46,682,416...46,813,167
Ensembl chr 1:46,682,863...46,809,688
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G |
Acsf3 |
acyl-CoA synthetase family member 3 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553
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G |
Ankrd11 |
ankyrin repeat domain containing 11 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962
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G |
Aprt |
adenine phosphoribosyl transferase |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431
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G |
Banp |
Btg3 associated nuclear protein |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,007,710...50,082,742
Ensembl chr19:50,007,881...50,082,738
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G |
Car5a |
carbonic anhydrase 5A |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
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NCBI chr19:49,973,092...50,002,948
Ensembl chr19:49,973,107...50,002,906
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G |
Cbfa2t3 |
CBFA2/RUNX1 partner transcriptional co-repressor 3 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,679,897...50,750,028
Ensembl chr19:50,680,729...50,749,610
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G |
Cdh15 |
cadherin 15 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105
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G |
Cdk10 |
cyclin-dependent kinase 10 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
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NCBI chr19:51,260,012...51,273,009
Ensembl chr19:51,261,356...51,269,078
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G |
Cdt1 |
chromatin licensing and DNA replication factor 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659
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G |
Chmp1a |
charged multivesicular body protein 1A |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
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NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436
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G |
Cpne7 |
copine 7 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:51,164,316...51,182,676
Ensembl chr19:51,166,034...51,182,677
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G |
Ctu2 |
cytosolic thiouridylase subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623
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G |
Cyba |
cytochrome b-245 alpha chain |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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G |
Dbndd1 |
dysbindin domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
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NCBI chr19:51,539,154...51,548,441
Ensembl chr19:51,539,148...51,548,444
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Def8 |
differentially expressed in FDCP 8 homolog |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:51,474,783...51,495,638
Ensembl chr19:51,474,878...51,495,638
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G |
Dpep1 |
dipeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
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NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257
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G |
Fanca |
FA complementation group A |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
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NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
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G |
Galns |
galactosamine (N-acetyl)-6-sulfatase |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246
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G |
Gas8 |
growth arrest specific 8 |
|
ISO ISS |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 OMIM:616726 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25640679 PMID:25741868 PMID:26387594 PMID:27120127 PMID:27472056 PMID:28492532 More...
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NCBI chr19:51,552,770...51,572,323
Ensembl chr19:51,552,816...51,572,305
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G |
Il17c |
interleukin 17C |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:50,484,890...50,486,169
Ensembl chr19:50,484,890...50,486,169
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G |
Jph3 |
junctophilin 3 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338
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G |
Klhdc4 |
kelch domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:49,860,975...49,894,027
Ensembl chr19:49,860,967...49,894,868
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G |
Mc1r |
melanocortin 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
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G |
Mvd |
mevalonate diphosphate decarboxylase |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971
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G |
Pabpn1l |
PABPN1 like |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
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NCBI chr19:50,669,965...50,673,409
Ensembl chr19:50,669,967...50,673,366
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G |
Piezo1 |
piezo-type mechanosensitive ion channel component 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
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G |
Rnf166 |
ring finger protein 166 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:50,529,434...50,539,274
Ensembl chr19:50,529,434...50,539,274
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G |
Rpl13 |
ribosomal protein L13 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014
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G |
Slc7a5 |
solute carrier family 7 member 5 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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G |
Snai3 |
snail family transcriptional repressor 3 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:50,516,771...50,529,295
Ensembl chr19:50,516,771...50,523,486
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G |
Spata2L |
spermatogenesis associated 2-like |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:51,269,078...51,273,605
Ensembl chr19:51,269,078...51,273,510
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G |
Spata33 |
spermatogenesis associated 33 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
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NCBI chr19:51,246,514...51,258,894
Ensembl chr19:51,246,514...51,258,894
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G |
Spire2 |
spire-type actin nucleation factor 2 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
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NCBI chr19:51,373,368...51,411,920
Ensembl chr19:51,373,228...51,411,920
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G |
Tcf25 |
transcription factor 25 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
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NCBI chr19:51,415,341...51,449,725
Ensembl chr19:51,415,543...51,449,723
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G |
Trappc2l |
trafficking protein particle complex subunit 2L |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192
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G |
Tubb3 |
tubulin, beta 3 class III |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
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G |
Vps9d1 |
VPS9 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:51,276,998...51,290,726
Ensembl chr19:51,277,000...51,290,634
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G |
Zc3h18 |
zinc finger CCCH-type containing 18 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:50,434,864...50,479,855
Ensembl chr19:50,434,903...50,479,854
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G |
Zfp26 |
zinc finger protein 26 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
|
NCBI chr 8:18,959,656...18,985,647
Ensembl chr 8:18,965,271...18,988,325
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G |
Zfp276 |
zinc finger protein (C2H2 type) 276 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049
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G |
Zfp469 |
zinc finger protein 469 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:50,282,337...50,324,010
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G |
Zfpm1 |
zinc finger protein, multitype 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 |
ClinVar |
PMID:28492532 |
|
NCBI chr19:50,334,352...50,391,029
Ensembl chr19:50,334,682...50,390,591
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G |
Dnajb13 |
DnaJ heat shock protein family (Hsp40) member B13 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Primary ciliary dyskinesia 34 |
OMIM CTD ClinVar |
PMID:25741868 PMID:27486783 PMID:28492532 |
|
NCBI chr 1:154,848,586...154,863,042
Ensembl chr 1:154,848,594...154,862,963
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G |
Odad4 |
outer dynein arm docking complex subunit 4 |
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ISO ISS |
OMIM:617092 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Primary ciliary dyskinesia 35 |
OMIM MouseDO CTD ClinVar |
PMID:25741868 PMID:27486780 |
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NCBI chr10:85,480,089...85,508,603
Ensembl chr10:85,480,094...85,508,603
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G |
Dnaaf6 |
dynein axonemal assembly factor 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 36, X-linked |
OMIM CTD ClinVar |
PMID:25741868 PMID:28041644 PMID:28492532 PMID:32170493 |
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NCBI chr X:103,724,419...103,775,633
Ensembl chr X:103,731,857...103,775,629
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G |
Dnah1 |
dynein, axonemal, heavy chain 1 |
|
ISO |
ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 37 | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 37 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24360805 PMID:25741868 PMID:25927852 PMID:27573432 PMID:27798045 PMID:28492532 PMID:32719396 PMID:33577779 More...
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NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
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G |
Cfap300 |
cilia and flagella associated protein 300 |
|
ISO |
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 38 |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:29727692 PMID:29727693 |
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NCBI chr 8:5,180,180...5,198,840
Ensembl chr 8:5,180,675...5,198,807
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G |
Lrrc56 |
leucine rich repeat containing 56 |
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ISO |
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 39 | ClinVar Annotator: match by term: LRRC56-related condition |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30388400 |
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NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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G |
Dnah9 |
dynein, axonemal, heavy chain 9 |
|
ISO |
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 40 | ClinVar Annotator: match by term: DNAH9-related condition |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30471717 PMID:30471718 PMID:32037394 PMID:33027564 More...
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NCBI chr10:50,496,174...50,864,909
Ensembl chr10:50,497,688...50,864,949
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G |
Gas2l2 |
growth arrest-specific 2 like 2 |
|
ISO |
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 41 | ClinVar Annotator: match by term: GAS2L2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:30665704 |
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NCBI chr10:68,222,475...68,229,877
Ensembl chr10:68,222,475...68,229,881
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G |
Mcidas |
multiciliate differentiation and DNA synthesis associated cell cycle protein |
|
ISO |
ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 42, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 42 |
OMIM ClinVar |
PMID:1523039 PMID:8813877 PMID:24033266 PMID:25048963 PMID:25741868 PMID:28492532 PMID:30237576 More...
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NCBI chr 2:44,636,820...44,644,551
Ensembl chr 2:44,636,856...44,642,601
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G |
Foxj1 |
forkhead box J1 |
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ISO |
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 43 |
OMIM ClinVar |
PMID:25741868 PMID:31630787 PMID:33077954 PMID:34132502 |
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NCBI chr10:101,566,299...101,570,370
Ensembl chr10:101,566,304...101,570,237
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G |
Nek10 |
NIMA-related kinase 10 |
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ISO |
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 44 |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr15:10,387,063...10,564,177
Ensembl chr15:10,381,140...10,559,722
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G |
Dnah6 |
dynein, axonemal, heavy chain 6 |
|
ISO |
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 45 |
ClinVar |
PMID:25741868 |
|
NCBI chr 4:105,064,123...105,284,361
Ensembl chr 4:105,064,125...105,284,376
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G |
Ttc12 |
tetratricopeptide repeat domain 12 |
|
ISO |
ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 45, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 45 |
OMIM ClinVar |
PMID:1978331 PMID:25741868 |
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NCBI chr 8:49,799,916...49,847,940
Ensembl chr 8:49,799,920...49,847,087
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G |
Stk36 |
serine/threonine kinase 36 |
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ISO |
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 46 | ClinVar Annotator: match by term: STK36-related condition |
OMIM ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 PMID:28543983 |
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NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422
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G |
Nme5 |
NME/NM23 family member 5 |
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ISO |
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 48, without situs inversus |
OMIM ClinVar |
PMID:25741868 PMID:32185794 PMID:32950024 |
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NCBI chr18:26,163,558...26,180,742
Ensembl chr18:26,163,555...26,180,794
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G |
Cfap74 |
cilia and flagella associated protein 74 |
|
ISO |
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 49, without situs inversus |
OMIM ClinVar |
PMID:25741868 PMID:32555313 PMID:36047773 |
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NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071
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Hydin |
Hydin, axonemal central pair apparatus protein |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 5 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:14985390 PMID:23022101 PMID:23849777 PMID:24033266 PMID:25741868 PMID:28512736 PMID:29363216 PMID:31469207 PMID:31879361 More...
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NCBI chr19:38,236,996...38,583,271
Ensembl chr19:38,236,464...38,583,264
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G |
Dnah7 |
dynein, axonemal, heavy chain 7 |
|
ISO |
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 50 |
OMIM ClinVar |
PMID:25741868 PMID:34476482 PMID:35543642 |
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NCBI chr 9:54,960,235...55,266,529
Ensembl chr 9:54,960,440...55,262,297
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Brwd1 |
bromodomain and WD repeat domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 51 |
OMIM ClinVar |
PMID:25741868 PMID:33389130 |
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NCBI chr11:35,286,364...35,378,768
Ensembl chr11:35,288,313...35,378,768
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Daw1 |
dynein assembly factor with WD repeats 1 |
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ISO |
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 52 |
OMIM ClinVar |
PMID:25741868 PMID:28991257 PMID:36074124 |
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NCBI chr 9:84,435,552...84,472,632
Ensembl chr 9:84,435,552...84,472,635
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Clxn |
calaxin |
|
ISO |
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 53 |
OMIM ClinVar |
PMID:25741868 PMID:36727596 |
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NCBI chr11:85,977,231...85,996,561
Ensembl chr11:85,983,304...85,996,538
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Anln |
anillin, actin binding protein |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,858,227...20,921,602
Ensembl chr 8:20,858,228...20,921,538
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G |
Aoah |
acyloxyacyl hydrolase |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 |
ClinVar |
PMID:28492532 |
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NCBI chr17:43,808,110...44,049,458
Ensembl chr17:43,809,638...44,049,148
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G |
Elmo1 |
engulfment and cell motility 1 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 |
ClinVar |
PMID:28492532 |
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NCBI chr17:44,286,495...44,822,668
Ensembl chr17:44,286,485...44,822,788
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Gpr141 |
G protein-coupled receptor 141 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 |
ClinVar |
PMID:28492532 |
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NCBI chr17:45,117,818...45,180,053
Ensembl chr17:45,117,812...45,180,027
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G |
Matcap2 |
microtubule associated tyrosine carboxypeptidase 2 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 |
ClinVar |
PMID:28492532 |
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NCBI chr 8:20,921,637...20,971,076
Ensembl chr 8:20,921,244...20,971,069
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G |
Nme8 |
NME/NM23 family member 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 |
OMIM CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17360648 PMID:17576681 PMID:20301301 PMID:22499950 PMID:24033266 PMID:25741868 PMID:28492532 More...
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NCBI chr17:45,237,022...45,304,948
Ensembl chr17:45,238,120...45,304,948
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G |
Sfrp4 |
secreted frizzled-related protein 4 |
|
ISO |
ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 |
ClinVar |
PMID:28492532 |
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NCBI chr17:45,278,867...45,330,806
Ensembl chr17:45,234,097...45,330,736
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Cdca7l |
cell division cycle associated 7 like |
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ISO |
ClinVar Annotator: match by term: DNAH11-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 7 |
ClinVar |
PMID:18022865 PMID:22184204 PMID:24033266 PMID:24450482 PMID:25741868 PMID:28492532 PMID:29997923 PMID:32502479 PMID:32622824 PMID:33942430 PMID:34133440 PMID:34556108 More...
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NCBI chr 6:138,793,953...138,839,889
Ensembl chr 6:138,794,228...138,839,888
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G |
Dnah11 |
dynein, axonemal, heavy chain 11 |
|
ISO ISS |
ClinVar Annotator: match by term: DNAH11-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 7 OMIM:611884 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:2690980 PMID:9536098 PMID:9585585 PMID:12142464 PMID:16199547 PMID:17576681 PMID:18022865 PMID:20301301 PMID:20513915 PMID:22102620 PMID:22184204 PMID:24033266 PMID:24450482 PMID:25741868 PMID:25802884 PMID:26139845 PMID:26729821 PMID:26909801 PMID:27637300 PMID:28492532 PMID:28976722 PMID:29467202 PMID:29997923 PMID:30067075 PMID:30919572 PMID:31040315 PMID:31507630 PMID:31607746 PMID:31765523 PMID:31772028 PMID:31879361 PMID:32253119 PMID:32367404 PMID:32502479 PMID:32622824 PMID:32633470 PMID:32860008 PMID:33447612 PMID:33608380 PMID:33942430 PMID:34008892 PMID:34133440 PMID:34298581 PMID:34513534 PMID:34556108 PMID:36003331 More...
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NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
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G |
Dnai2 |
dynein, axonemal, intermediate chain 2 |
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ISO |
ClinVar Annotator: match by term: DNAI2-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 9 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18950741 PMID:20301301 PMID:23261302 PMID:23891469 PMID:24033266 PMID:25741868 PMID:25802884 PMID:28492532 PMID:33447612 PMID:35728977 More...
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NCBI chr10:99,759,966...99,793,379
Ensembl chr10:99,759,966...99,793,378
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G |
Cenpf |
centromere protein F |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Stromme syndrome |
OMIM CTD ClinVar |
PMID:8261651 PMID:25564561 PMID:25741868 PMID:25741878 PMID:26820108 PMID:28407396 PMID:28492532 More...
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NCBI chr13:101,184,127...101,229,714
Ensembl chr13:101,184,127...101,229,669
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