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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 |
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 chr15:82,692,312...82,697,408
Ensembl chr15:82,692,143...82,698,009
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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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G |
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 |
DNA:frameshift mutations, nonsense mutations ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome CTD Direct Evidence: marker/mechanism DNA:frameshift mutations, nonsense mutations, missense mutations:multiple DNA:nonsense mutations, frameshift mutation, missense mutation:multiple |
ClinVar 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:21877133 PMID:21897446 PMID:21901789 PMID:21943378 PMID:22406018 PMID:22447358 PMID:22533542 PMID:22555271 PMID:22773737 PMID:22876109 PMID:23188138 PMID:23661369 PMID:23847139 PMID:24033266 PMID:24049434 PMID:24257694 PMID:24400638 PMID:24462884 PMID:24503146 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:25999675 PMID:26010121 PMID:26047050 PMID:26066530 PMID:26077327 PMID:26082521 PMID:26104972 PMID:26111748 PMID:26239645 PMID:26283575 PMID:26285675 PMID:26467025 PMID:26566502 PMID:26633542 PMID:26636822 PMID:26704672 PMID:26992781 PMID:27178444 PMID:27486776 PMID:27665122 PMID:28112973 PMID:28145517 PMID:28402684 PMID:28432734 PMID:28456785 PMID:28492532 PMID:28502102 PMID:28717663 PMID:28724398 PMID:28912962 PMID:29079548 PMID:29193673 PMID:29302074 PMID:29345162 PMID:29588463 PMID:29590070 PMID:29610177 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:31456290 PMID:31607746 PMID:31624253 PMID:31630094 PMID:31638414 PMID:31755649 PMID:31810438 PMID:31898538 PMID:32349990 PMID:32483926 PMID:32503575 PMID:32531858 PMID:32531870 PMID:32581362 PMID:32682410 PMID:32746448 PMID:32856788 PMID:32944671 PMID:32973878 PMID:33502066 PMID:33669459 PMID:33924909 PMID:33981653 PMID:34147365 PMID:34148947 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 |
|
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 |
Fbn1 |
fibrillin 1 |
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ISO |
ClinVar Annotator: match by term: Alstrom's syndrome |
ClinVar |
PMID:17657824 PMID:19293843 PMID:25741868 PMID:28492532 |
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NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889
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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 |
|
ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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:7987310 PMID:8298649 PMID:15258860 PMID:19858128 PMID:20142850 PMID:22334370 PMID:22773737 PMID:25741868 PMID:26355662 PMID:27124789 PMID:27486776 PMID:28005406 PMID:28130426 PMID:28492532 PMID:31456290 PMID:31736247 PMID:32531858 PMID:32906206 PMID:33090715 PMID:35457050 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 |
|
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 |
|
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:21775502 PMID:22025579 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 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 |
|
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 |
|
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:19797195 PMID:19858128 PMID:20120035 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: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: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:31534736 PMID:31836858 PMID:31997113 PMID:32037395 PMID:32165824 PMID:32349990 PMID:32451492 PMID:32552793 PMID:33169370 PMID:33532864 PMID:33594065 PMID:34526762 PMID:35886001 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: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: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:29806606 PMID:29947050 PMID:30335236 PMID:30614526 PMID:30718709 PMID:31196119 PMID:31639430 PMID:32361989 PMID:32448990 PMID:32531858 PMID:33964006 PMID:34940782 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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G |
Bbs12 |
Bardet-Biedl syndrome 12 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:17160889 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:24611592 PMID:25133751 PMID:25170860 PMID:25741868 PMID:25780760 PMID:25982971 PMID:26489029 PMID:27004616 PMID:27659767 PMID:27708425 PMID:28224992 PMID:28492532 PMID:28912962 PMID:30614526 PMID:30718709 PMID:31196119 PMID:31888296 PMID:32531858 PMID:33046855 PMID:33964006 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: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: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: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:31960602 PMID:32037395 PMID:32349990 PMID:32436246 PMID:33138063 PMID:33226606 PMID:33520300 PMID:33777945 PMID:33781268 PMID:33921607 PMID:34008892 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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G |
Bbs4 |
Bardet-Biedl syndrome 4 |
|
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:19858128 PMID:20177705 PMID:20498079 PMID:21344540 PMID:22353939 PMID:23591405 PMID:24849935 PMID:25741868 PMID:27208204 PMID:27486776 PMID:27894351 PMID:28492532 PMID:30614526 PMID:30718709 PMID:31980526 PMID:32531858 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 |
|
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:20498079 PMID:21052717 PMID:21209035 PMID:21344540 PMID:22626039 PMID:22773737 PMID:24400638 PMID:24559376 PMID:25741868 PMID:26325687 PMID:26766544 PMID:27708425 PMID:28041643 PMID:28492532 PMID:29806606 PMID:30614526 PMID:30718709 PMID:31506453 PMID:31760295 PMID:32451492 PMID:32641690 PMID:33572860 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 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar RGD |
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:22302990 PMID:22500027 PMID:23572516 PMID:23847139 PMID:25553308 PMID:25741868 PMID:26003401 PMID:26325687 PMID:27486776 PMID:28492532 PMID:29970488 PMID:30029678 PMID:30614526 PMID:30718709 PMID:31196119 PMID:31469663 PMID:33777945 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 |
|
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:27708425 PMID:28492532 PMID:29096039 PMID:29970488 PMID:30614526 PMID:30718709 PMID:31054281 PMID:31488071 PMID:31888296 PMID:32686083 PMID:33138063 PMID:33616283 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 |
|
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 |
|
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 |
|
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 |
|
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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G |
Ccdc113 |
coiled-coil domain containing 113 |
|
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 |
|
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 |
|
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 |
|
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...202,764,631
Ensembl chr 1:202,763,631...202,764,703
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G |
Ccl17 |
C-C motif chemokine ligand 17 |
|
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 chr19:10,202,317...10,203,768
Ensembl chr19:10,202,128...10,203,819
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G |
Ccl22 |
C-C motif chemokine ligand 22 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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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G |
Cep290 |
centrosomal protein 290 |
|
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...35,399,392
Ensembl chr 7:35,310,199...35,399,392
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G |
Cfap20 |
cilia and flagella associated protein 20 |
|
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 chr19:9,608,851...9,622,562
Ensembl chr19:9,608,859...9,622,558
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G |
Cfl1 |
cofilin 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 1:202,796,012...202,801,337
Ensembl chr 1:202,786,627...202,817,587
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G |
Ciapin1 |
cytokine induced apoptosis inhibitor 1 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
|
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 |
|
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 |
|
NCBI chr 8:58,106,129...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 |
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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 |
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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 1:202,994,115...203,014,320
Ensembl chr 1:202,994,118...203,014,270
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G |
Ehd1 |
EH-domain containing 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 1:203,579,850...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 |
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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 1:202,674,362...202,679,662
Ensembl chr 1:202,674,185...202,679,658
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G |
Eml5 |
EMAP like 5 |
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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 |
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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 1:203,015,772...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 |
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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 1:203,350,226...203,351,741
Ensembl chr 1:203,350,189...203,351,742
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G |
Fibp |
FGF1 intracellular binding 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 1:202,768,065...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 |
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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 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930
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G |
Frmd8 |
FERM domain containing 8 |
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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 1:203,143,216...203,163,868
Ensembl chr 1:203,143,218...203,163,870
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G |
Gal3st3 |
galactose-3-O-sulfotransferase 3 |
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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 1:202,593,692...202,603,446
Ensembl chr 1:202,593,692...202,603,445
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G |
Gins3 |
GINS complex subunit 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 chr19:9,420,085...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 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:25741868 PMID:26893459 PMID:28492532 |
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NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
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G |
Gnao1 |
G protein subunit alpha o1 |
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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 chr19:11,034,874...11,192,502
Ensembl chr19:11,035,956...11,192,493
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G |
Got2 |
glutamic-oxaloacetic transaminase 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 chr19:9,174,304...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 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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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 |
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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 chr19:10,598,411...10,609,002
Ensembl chr19:10,598,417...10,618,424
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G |
Htr2b |
5-hydroxytryptamine receptor 2B |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:29127258 |
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NCBI chr 9:86,735,793...86,756,640
Ensembl chr 9:86,742,102...86,755,108
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G |
Ift172 |
intraflagellar transport 172 |
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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 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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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 |
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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 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:124,406,794...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 |
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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 chr19:9,921,216...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 chr19:9,825,208...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 |
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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 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 8:58,692,592...58,716,356
Ensembl chr 8:58,692,593...58,716,356
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G |
Lrp2 |
LDL receptor related protein 2 |
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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...203,660,515
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 |
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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 |
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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 chr19:10,674,193...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 |
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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: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:21209035 PMID:22353939 PMID:22446187 PMID:22500027 PMID:24400638 PMID:25741868 PMID:25982971 PMID:26355662 PMID:26900326 PMID:27491411 PMID:28492532 PMID:28624958 PMID:28753627 PMID:28761321 PMID:29127258 PMID:30614526 PMID:30718709 PMID:33138063 PMID:33520300 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 |
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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...
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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...
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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...
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NCBI chr19:10,826,032...10,827,048
Ensembl chr19:10,826,032...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...
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|
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...
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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...
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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...
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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 |
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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 |
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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 chr19:10,477,638...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...
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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 |
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ISO |
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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 |
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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 |
Nphp4 |
nephrocystin 4 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:15776426 PMID:25741868 PMID:28492532 |
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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 |
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NCBI chr 8:58,996,876...59,063,402
Ensembl chr 8:58,996,887...59,063,401
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G |
Nt5c3a |
5'-nucleotidase, cytosolic IIIA |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:16380913 PMID:20177705 PMID:28492532 |
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NCBI chr 4:86,161,642...86,204,671
Ensembl chr 4:86,161,643...86,204,628
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G |
Nudt21 |
nudix hydrolase 21 |
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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 chr19:10,974,800...10,993,841
Ensembl chr19:10,974,241...10,991,682
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G |
Nup93 |
nucleoporin 93 |
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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 chr19:10,684,214...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 chr19:10,948,778...10,974,566
Ensembl chr19:10,946,018...10,975,119
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G |
Otx1 |
orthodenticle homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr14:96,082,151...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...
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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...
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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...
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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 |
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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 |
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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 1:202,230,034...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 |
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NCBI chr 8:45,003,538...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 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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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...
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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...
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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 |
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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 |
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 |
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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...
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NCBI chr 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368
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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
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G |
Rec114 |
REC114 meiotic recombination protein |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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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...
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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...
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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 |
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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 |
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...
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NCBI chr 1:202,894,504...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 |
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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 |
|
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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 |
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...
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NCBI chr 1:203,414,181...203,416,619
Ensembl chr 1:203,414,187...203,416,604
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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...
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NCBI chr 1:202,690,472...202,699,136
Ensembl chr 1:202,690,459...202,699,136
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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
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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...
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NCBI chr 1:203,045,776...203,059,550
Ensembl chr 1:203,045,741...203,059,533
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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 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 |
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NCBI chr 8:58,348,448...58,370,536
Ensembl chr 8:58,348,448...58,370,536
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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...
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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...
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NCBI chr 1:203,670,016...203,683,432
Ensembl chr 1:203,670,018...203,684,330
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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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G |
Sipa1 |
signal-induced proliferation-associated 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 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591
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G |
Slc12a3 |
solute carrier family 12 member 3 |
|
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 chr19:10,630,649...10,679,250
Ensembl chr19:10,631,393...10,669,091
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G |
Slc25a45 |
solute carrier family 25, member 45 |
|
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 1:203,166,362...203,174,473
Ensembl chr 1:203,166,683...203,174,473
|
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G |
Slc29a2 |
solute carrier family 29 member 2 |
|
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 1:202,327,641...202,335,185
Ensembl chr 1:202,327,354...202,335,171
|
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G |
Slc38a7 |
solute carrier family 38, member 7 |
|
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 chr19:9,209,203...9,225,472
Ensembl chr19:9,209,257...9,225,454
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G |
Slx4ip |
SLX4 interacting protein |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
|
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 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 6:117,879,828...117,925,284
Ensembl chr 6:117,879,823...117,925,284
|
|
G |
Spmip8 |
sperm microtubule inner protein 8 |
|
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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G |
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 8:58,549,743...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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G |
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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G |
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 |
Tigd3 |
tigger transposable element derived 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 1:203,178,456...203,182,775
Ensembl chr 1:203,178,460...203,181,272
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G |
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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G |
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...202,392,243
Ensembl chr 1:202,388,240...202,392,182
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G |
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:25741868 PMID:18327255 |
RGD:11070512 |
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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G |
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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G |
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:21775502 PMID:22025579 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: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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G |
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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G |
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: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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G |
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 8:58,321,157...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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G |
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...203,370,295 NCBI chr 1:203,369,158...203,370,408
Ensembl chr 1:203,360,440...203,370,430
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G |
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: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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G |
Zdhhc24 |
zinc finger, DHHC-type containing 24 |
|
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:26467025 PMID:26518167 PMID:26872967 PMID:27032803 PMID:27434533 PMID:27486776 PMID:27624628 PMID:27659767 PMID:27788217 PMID:27894351 PMID:28041643 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:31836858 PMID:32165824 PMID:32349990 PMID:32451492 PMID:32552793 PMID:33532864 PMID:33594065 PMID:34526762 PMID:35886001 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 |
OMIM ClinVar |
PMID:9714014 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 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 |
ClinVar |
PMID:24026985 |
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NCBI chr 1:252,943,589...252,959,578
Ensembl chr 1:252,945,557...252,959,352
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G |
Bbs1 |
Bardet-Biedl syndrome 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 |
OMIM ClinVar |
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: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:31534736 PMID:31836858 PMID:32037395 PMID:32165824 PMID:32349990 PMID:32451492 PMID:33532864 PMID:33594065 PMID:34526762 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 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 |
ClinVar |
PMID:16582908 PMID:17106446 PMID:20120035 PMID:20177705 PMID:20472660 PMID:20498079 PMID:20805367 PMID:20876674 PMID:21044901 PMID:21052717 PMID:21209035 PMID:21344540 PMID:21642631 PMID:22773737 PMID:23591405 PMID:24033266 PMID:24400638 PMID:24746959 PMID:25366773 PMID:25741868 PMID:25982971 PMID:26467025 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 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 |
ClinVar |
PMID:20498079 PMID:22025579 PMID:22773737 PMID:25741868 PMID:25780760 PMID:28492532 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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 |
ClinVar |
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 |
Bbs7 |
Bardet-Biedl syndrome 7 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of |
OMIM 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 |
Elmod3 |
ELMO domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 |
ClinVar |
PMID:25741868 |
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NCBI chr 4:104,614,665...104,653,122
Ensembl chr 4:104,614,676...104,653,053
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G |
Lztfl1 |
leucine zipper transcription factor-like 1 |
|
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 |
|
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 |
Stx3 |
syntaxin 3 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
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 |
|
ISO |
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: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:31836858 PMID:32165824 PMID:32349990 PMID:32451492 PMID:33532864 PMID:33594065 PMID:34526762 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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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 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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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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Bbs10 |
Bardet-Biedl syndrome 10 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 | ClinVar Annotator: match by term: Bardet-biedl syndrome 1/10, digenic |
OMIM ClinVar |
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: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 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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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:21775502 PMID:22025579 PMID:22981120 PMID:23142638 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29921608 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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Trim32 |
tripartite motif-containing 32 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 11 |
OMIM ClinVar |
PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 PMID:16606853 PMID:17994549 PMID:19349376 PMID:21775502 PMID:22025579 PMID:22981120 PMID:23142638 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29921608 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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Bbs12 |
Bardet-Biedl syndrome 12 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 12 |
OMIM ClinVar |
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:24611592 PMID:25133751 PMID:25170860 PMID:25741868 PMID:25780760 PMID:25982971 PMID:26489029 PMID:27004616 PMID:27659767 PMID:27708425 PMID:28224992 PMID:28492532 PMID:28912962 PMID:30614526 PMID:30718709 PMID:31196119 PMID:32531858 PMID:33046855 PMID:33532864 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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Mks1 |
MKS transition zone complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 13 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17437276 PMID:17576681 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:25741868 PMID:26092869 PMID:26490104 PMID:27353947 PMID:27570071 PMID:28224992 PMID:28492532 PMID:28497568 PMID:28771248 PMID:28981474 PMID:30076350 PMID:30718709 PMID:31456290 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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Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17617513 PMID:17964524 PMID:18327255 PMID:18414213 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22355252 PMID:22693042 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 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:26673778 PMID:27353947 PMID:27375279 PMID:28224992 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:28912962 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29641573 PMID:30718709 PMID:30776697 PMID:30902645 PMID:31091803 PMID:31624253 PMID:31734136 PMID:31816670 PMID:31884610 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32208788 PMID:32856788 PMID:32865313 PMID:33308271 PMID:33502066 PMID:33546218 PMID:33574314 PMID:33726816 PMID:33970760 PMID:34196655 PMID:34795310 More...
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NCBI chr 7:35,310,071...35,399,392
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: Bardet-Biedl syndrome 14 |
ClinVar |
PMID:28492532 |
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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 |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 14, modifier of |
OMIM ClinVar |
PMID:9375913 PMID:17377820 PMID:17397051 PMID:18327255 PMID:18414213 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28492532 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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Wdpcp |
WD repeat containing planar cell polarity effector |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 15 |
OMIM 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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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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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:24033266 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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Sdccag8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20835237 PMID:22190896 PMID:22626039 PMID:23188109 PMID:25741868 PMID:27486776 PMID:28492532 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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Lztfl1 |
leucine zipper transcription factor-like 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 17 |
OMIM ClinVar |
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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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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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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Bbip1 |
BBSome interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 18 |
OMIM ClinVar |
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...252,959,578
Ensembl chr 1:252,945,557...252,959,352
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Ift27 |
intraflagellar transport 27 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 19 |
OMIM ClinVar |
PMID:24488770 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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Bbs2 |
Bardet-Biedl syndrome 2 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 2 |
OMIM ClinVar |
PMID:8298649 PMID:9536098 PMID:11285252 PMID:11567139 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: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:30718709 PMID:30902645 PMID:31054281 PMID:31283077 PMID:31429209 PMID:31456290 PMID:31530639 PMID:31960602 PMID:32349990 PMID:32436246 PMID:33138063 PMID:33226606 PMID:33520300 PMID:33777945 PMID:33921607 PMID:34008892 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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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: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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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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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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Ift172 |
intraflagellar transport 172 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 20 |
OMIM ClinVar |
PMID:24290075 PMID:25168386 PMID:25741868 PMID:26763875 PMID:28492532 PMID:31587445 PMID:32451492 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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Krtcap3 |
keratinocyte associated protein 3 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 20 |
ClinVar |
PMID:25168386 |
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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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Cfap418 |
cilia and flagella associated protein 418 |
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ISO |
ClinVar Annotator: match by term: Bardet-biedl syndrome 21 |
OMIM 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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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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Ift74 |
intraflagellar transport 74 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 22 |
OMIM 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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Arl6 |
ADP-ribosylation factor like GTPase 6 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 3 |
OMIM ClinVar |
PMID:7987310 PMID:8298649 PMID:9536098 PMID:9714014 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:32906206 PMID:33090715 PMID:33946315 PMID:34716235 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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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 chr11:39,757,870...40,708,901
Ensembl chr11:39,757,181...40,698,311
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Bbs4 |
Bardet-Biedl syndrome 4 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 4 |
OMIM ClinVar |
PMID:388431 PMID:7711739 PMID:9536098 PMID:11381270 PMID:12016587 PMID:12524598 PMID:12872256 PMID:15654695 PMID:15666242 PMID:16199547 PMID:17576681 PMID:19858128 PMID:20177705 PMID:20498079 PMID:21344540 PMID:22353939 PMID:25741868 PMID:26518167 PMID:27208204 PMID:27486776 PMID:27894351 PMID:28492532 PMID:29039417 PMID:31980526 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 |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 5 |
OMIM ClinVar |
PMID:9536098 PMID:11342895 PMID:15137946 PMID:16199547 PMID:16877420 PMID:17576681 PMID:18203199 PMID:19367329 PMID:21052717 PMID:21209035 PMID:22626039 PMID:25741868 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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Mkks |
MKKS centrosomal shuttling protein |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 6 |
OMIM ClinVar |
PMID:9536098 PMID:10802661 PMID:10973238 PMID:10973251 PMID:11179009 PMID:11567139 PMID:12107442 PMID:12920096 PMID:15637713 PMID:15731008 PMID:17576681 PMID:18094050 PMID:20080638 PMID:20177705 PMID:20226561 PMID:20472660 PMID:20498079 PMID:21209035 PMID:22446187 PMID:22500027 PMID:25741868 PMID:25982971 PMID:26900326 PMID:27491411 PMID:28492532 PMID:28761321 PMID:29127258 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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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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Bbs7 |
Bardet-Biedl syndrome 7 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 7 |
OMIM ClinVar |
PMID:9536098 PMID:12567324 PMID:16308660 PMID:17576681 PMID:19402160 PMID:20498079 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:30614526 PMID:30718709 PMID:31196119 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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Ttc8 |
tetratricopeptide repeat domain 8 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 8 |
OMIM ClinVar |
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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Bbs9 |
Bardet-Biedl syndrome 9 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 9 | ClinVar Annotator: match by term: Retinal vascular dystrophy |
OMIM ClinVar |
PMID:9536098 PMID:16380913 PMID:17576681 PMID:20177705 PMID:21209035 PMID:22353939 PMID:23160099 PMID:23757202 PMID:24746959 PMID:24849935 PMID:25741868 PMID:26518167 PMID:27486776 PMID:27708425 PMID:28492532 PMID:29096039 PMID:29970488 PMID:30614526 PMID:30718709 PMID:30773290 PMID:31054281 PMID:31488071 PMID:31888296 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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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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Ift56 |
intraflagellar transport 56 |
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ISO |
ClinVar Annotator: match by term: Caroli disease |
ClinVar |
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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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:30343465 PMID:30773290 PMID:31130284 PMID:31844813 PMID:31980526 PMID:32359821 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32799815 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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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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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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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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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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Rpgr |
retinitis pigmentosa GTPase regulator |
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ISO |
associated with Retinitis Pigmentosa 3;DNA:exon, intron:g.631_IVS6+9del (human) |
RGD |
PMID:16055928 |
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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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:25741868 PMID:26695994 PMID:27151922 PMID:27225849 PMID:27894351 PMID:28492532 PMID:31130284 PMID:31844813 PMID:31980526 PMID:32359821 PMID:32398770 PMID:32571524 PMID:32574212 PMID:32799815 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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Abca2 |
ATP binding cassette subfamily A member 2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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: Joubert syndrome |
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 3:9,416,842...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: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
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:25525159 PMID:25616960 PMID:25640679 PMID:25741868 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:30755392 PMID:31319225 PMID:31624253 PMID:32335874 PMID:32865313 PMID:33921607 PMID:34191236 PMID:34205586 PMID:34627237 PMID:34906502 More...
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NCBI chr 1:15,768,047...15,886,744
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: Joubert syndrome |
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...8,401,559
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: Joubert syndrome |
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: Joubert syndrome |
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: Joubert syndrome |
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: Joubert syndrome |
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: Joubert syndrome |
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: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:18674751 PMID:23153492 PMID:24033266 PMID:25741868 PMID:27153923 PMID:28492532 PMID:31846650 More...
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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: Joubert syndrome |
ClinVar |
PMID:25741868 PMID:28492532 PMID:28625504 PMID:31474318 |
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NCBI chr 9:86,802,791...86,928,860
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: Joubert syndrome |
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: Joubert syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr12:31,949,863...31,979,777
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: Joubert syndrome |
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: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
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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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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Bcas3 |
BCAS3, microtubule associated cell migration factor |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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: Joubert syndrome |
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: Joubert syndrome |
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: Joubert syndrome |
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: Joubert 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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C8g |
complement C8 gamma chain |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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 3:8,320,495...8,323,495
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: Joubert syndrome |
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: Joubert syndrome |
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...8,806,072
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: Joubert syndrome |
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: Joubert syndrome |
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 family member 1, beta catenin antagonist |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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: Joubert syndrome ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
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: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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Ccdc183 |
coiled-coil domain containing 183 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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: Joubert syndrome |
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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Cep104 |
centrosomal protein 104 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar Annotator: match by term: Joubert syndrome | 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: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:25356976 PMID:25377065 PMID:25439097 PMID:25445212 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 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:28973549 PMID:29053603 PMID:29146704 PMID:29178642 PMID:29186038 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:30902645 PMID:31054281 PMID:31091803 PMID:31411728 PMID:31624253 PMID:31630094 PMID:31680349 PMID:31734136 PMID:31816670 PMID:31884610 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:33946315 PMID:33970760 PMID:34096792 PMID:34196655 PMID:34795310 More...
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NCBI chr 7:35,310,071...35,399,392
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: Joubert syndrome |
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: Joubert syndrome |
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: Joubert syndrome |
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: Joubert syndrome |
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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Cltc |
clathrin heavy chain |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Cluap1 |
clusterin associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Coil |
coilin |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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: Joubert syndrome |
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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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:24033266 PMID:24178751 PMID:25407461 PMID:25741868 PMID:25846457 PMID:25877302 PMID:26092869 PMID:28492532 PMID:29605658 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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Cpsf7 |
cleavage and polyadenylation specific factor 7 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:207,167,690...207,191,865
Ensembl chr 1:207,167,859...207,191,905
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Cuedc1 |
CUE domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Cyb561a3 |
cytochrome b561 family, member A3 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Cysrt1 |
cysteine rich tail 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Dgke |
diacylglycerol kinase epsilon |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,852,679...73,877,334
Ensembl chr10:73,855,583...73,877,100
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Dhx40 |
DEAH-box helicase 40 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Dipk1b |
divergent protein kinase domain 1B |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Dnlz |
DNL-type zinc finger |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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...9,171,881
Ensembl chr 3:9,169,793...9,180,551
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Dph7 |
diphthamide biosynthesis 7 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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 3:7,770,385...7,778,994
Ensembl chr 3:7,770,379...7,778,982
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Dpp7 |
dipeptidylpeptidase 7 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Drc3 |
dynein regulatory complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Drg2 |
developmentally regulated GTP binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,255,501...45,269,971
Ensembl chr10:45,255,507...45,269,969
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Dynll2 |
dynein light chain LC8-type 2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Edf1 |
endothelial differentiation-related factor 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Egfl6 |
EGF-like-domain, multiple 6 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Egfl7 |
EGF-like-domain, multiple 7 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Ehmt1 |
euchromatic histone lysine methyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Eif2b1 |
eukaryotic translation initiation factor 2B subunit alpha |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Entpd2 |
ectonucleoside triphosphate diphosphohydrolase 2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Entpd8 |
ectonucleoside triphosphate diphosphohydrolase 8 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Entr1 |
endosome associated trafficking regulator 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Epn2 |
epsin 2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Epx |
eosinophil peroxidase |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Exoc8 |
exocyst complex component 8 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Fam149b1 |
family with sequence similarity 149, member B1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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: Joubert syndrome |
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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Fbxl5 |
F-box and leucine-rich repeat protein 5 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Fbxw10 |
F-box and WD repeat domain containing 10 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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: Joubert syndrome |
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: Joubert syndrome |
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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Flcn |
folliculin |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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: Joubert syndrome |
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: Joubert 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: Joubert syndrome |
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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Gdpd1 |
glycerophosphodiester phosphodiesterase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:45,221,210...45,247,627
Ensembl chr10:45,245,754...45,247,621 Ensembl chr10:45,245,754...45,247,621
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Glt6d1 |
glycosyltransferase 6 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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: Joubert syndrome |
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: Joubert syndrome |
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: Joubert syndrome |
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: Joubert syndrome |
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: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:68,634,855...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: Joubert syndrome |
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: Joubert syndrome |
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 |
DNA:missense mutations, nonsense mutation:exon:multiple ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar RGD |
PMID:9536098 PMID:10577920 PMID:15786477 PMID:16025100 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:25516202 PMID:25741868 PMID:25818971 PMID:25963545 PMID:25999675 PMID:26092869 PMID:26748598 PMID:26820064 PMID:27081510 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:31589614 PMID:32304219 PMID:33270637 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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G |
Irx3 |
iroquois homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:17558409 PMID:28492532 |
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NCBI chr19:15,211,882...15,215,323
Ensembl chr19:15,211,878...15,215,317
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G |
Irx5 |
iroquois homeobox 5 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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: Joubert syndrome |
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 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:26714646 |
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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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G |
Kcnt1 |
potassium sodium-activated channel subfamily T member 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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G |
Kif14 |
kinesin family member 14 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome and related disorders ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:16199547 PMID:23308235 PMID:28492532 PMID:29343805 PMID:30388224 |
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NCBI chr13:47,926,975...47,990,598
Ensembl chr13:47,927,044...47,989,164
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G |
Kif7 |
kinesin family member 7 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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G |
Kitlg |
KIT ligand |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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G |
Lcn10 |
lipocalin 10 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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G |
Lcn12 |
lipocalin 12 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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 3:8,312,404...8,320,206
Ensembl chr 3:8,305,920...8,323,495
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G |
Lcn6 |
lipocalin 6 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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G |
Lcn8 |
lipocalin 8 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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G |
Lcn9 |
lipocalin 9 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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G |
Lhx3 |
LIM homeobox 3 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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G |
Llgl1 |
LLGL scribble cell polarity complex component 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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G |
LOC500827 |
similar to hypothetical protein FLJ35821 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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G |
LOC690035 |
similar to Protein KIAA0586 |
|
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: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 |
Lpo |
lactoperoxidase |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,606,944...72,626,535
Ensembl chr10:72,606,944...72,626,535
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G |
Lrrc26 |
leucine rich repeat containing 26 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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G |
Lrrc34 |
leucine rich repeat containing 34 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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G |
Lrrcc1 |
leucine rich repeat and coiled-coil centrosomal protein 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
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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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G |
Mamdc4 |
MAM domain containing 4 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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G |
Man1b1 |
mannosidase, alpha, class 1B, member 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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G |
Mapk7 |
mitogen-activated protein kinase 7 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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G |
Med9 |
mediator complex subunit 9 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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 |
Mief2 |
mitochondrial elongation factor 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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G |
Mir126b |
microRNA 126b |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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 3:9,415,087...9,415,159
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G |
Mir21 |
microRNA 21 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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G |
Mks1 |
MKS transition zone complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert 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:20301500 PMID:21068128 PMID:21228398 PMID:21258341 PMID:22353939 PMID:23169490 PMID:23351400 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: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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G |
Mmp2 |
matrix metallopeptidase 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,594,458...72,608,862
Ensembl chr10:72,594,661...72,604,819
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G |
Mprip |
myosin phosphatase Rho interacting protein |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:44,453,929...44,569,442
Ensembl chr10:44,453,929...44,569,118
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G |
Mrpl41 |
mitochondrial ribosomal protein L41 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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 3:11,801,310...11,806,341
Ensembl chr 3:11,801,310...11,806,313
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G |
Mrps23 |
mitochondrial ribosomal protein S23 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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G |
Myo15a |
myosin XVA |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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G |
Ndor1 |
NADPH dependent diflavin oxidoreductase 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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G |
Nelfb |
negative elongation factor complex member B |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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G |
Nog |
noggin |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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G |
Notch1 |
notch receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:23559409 PMID:28002029 PMID:28492532 PMID:34090716 |
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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 |
Nphp3 |
nephrocystin 3 |
|
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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G |
Nrarp |
Notch-regulated ankyrin repeat protein |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Nsmf |
NMDA receptor synaptonuclear signaling and neuronal migration factor |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Nt5m |
5',3'-nucleotidase, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Obp2a |
odorant binding protein 2A |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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 3:8,505,990...8,509,269
Ensembl chr 3:8,505,990...8,509,269
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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: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:30401917 PMID:35112477 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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Olr1523 |
olfactory receptor 1523 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Or4d2b |
olfactory receptor family 4 subfamily D member 2B |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Paxx |
PAXX, non-homologous end joining factor |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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...8,276,338
Ensembl chr 3:8,274,762...8,276,521
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Pdp1 |
pyruvate dehydrogenase phosphatase catalytic subunit 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Pdpr |
pyruvate dehydrogenase phosphatase regulatory subunit |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Pemt |
phosphatidylethanolamine N-methyltransferase |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013
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Phpt1 |
phosphohistidine phosphatase 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
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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Pld6 |
phospholipase D family, member 6 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:44,577,740...44,581,686
Ensembl chr10:44,577,675...44,581,077
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Pmpca |
peptidase, mitochondrial processing subunit alpha |
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