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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 |
|
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 |
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 |
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 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:18414213 PMID:19763152 PMID:20307669 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:23847139 PMID:24033266 PMID:24049434 PMID:24400638 PMID:24462884 PMID:24503146 PMID:24595103 PMID:24830966 PMID:25268133 PMID:25296579 PMID:25468891 PMID:25533962 PMID:25640679 PMID:25706677 PMID:25741868 PMID:25846608 PMID:25999675 PMID:26010121 PMID:26047050 PMID:26077327 PMID:26082521 PMID:26104972 PMID:26111748 PMID:26239645 PMID:26283575 PMID:26285675 PMID:26467025 PMID:26566502 PMID:26633542 PMID:26636822 PMID:26992781 PMID:27178444 PMID:27523285 PMID:27665122 PMID:28402684 PMID:28432734 PMID:28492532 PMID:28502102 PMID:28717663 PMID:29079548 PMID:29193673 PMID:29345162 PMID:29588463 PMID:29610177 PMID:29715191 PMID:30029497 PMID:30064963 PMID:30311386 PMID:30488743 PMID:31607746 PMID:31630094 PMID:31638414 PMID:31755649 PMID:31810438 PMID:32531870 PMID:32581362 PMID:32944671 PMID:32973878 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 |
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 |
Fbxo41 |
F-box protein 41 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,969,615...117,984,082
Ensembl chr 4:117,969,626...117,984,347
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G |
Spr |
sepiapterin reductase |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 4:117,671,948...117,676,292
Ensembl chr 4:117,671,949...117,675,678
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G |
Tango2 |
transport and golgi organization 2 homolog |
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ISO |
ClinVar Annotator: match by term: Alstrom syndrome |
ClinVar |
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 |
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 |
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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 |
Ap5b1 |
adaptor related protein complex 5 subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
Arl2 |
ADP-ribosylation factor like GTPase 2 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
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:25741868 PMID:15314642 |
RGD:1578724 |
NCBI chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937
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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:19303295 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:30823891 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:16786513 PMID:28492532 |
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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:16786513 PMID:28492532 |
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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 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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:16786513 PMID:28492532 |
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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 |
|
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:15770229 PMID:16199547 PMID:16327777 PMID:16786513 PMID:16877420 PMID:17003356 PMID:17576681 PMID:17980398 PMID:18032602 PMID:18327255 PMID:18669544 PMID:18766993 PMID:19797195 PMID:20120035 PMID:20177705 PMID:20472660 PMID:20498079 PMID:20876674 PMID:21052717 PMID:21209035 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:24611592 PMID:24746959 PMID:25074776 PMID:25170860 PMID:25326635 PMID:25640679 PMID:25741868 PMID:25780760 PMID:26261414 PMID:26467025 PMID:26518167 PMID:26872967 PMID:27032803 PMID:27434533 PMID:27486776 PMID:27659767 PMID:27788217 PMID:27884173 PMID:27894351 PMID:28041643 PMID:28143435 PMID:28341476 PMID:28492532 PMID:28559085 PMID:29099798 PMID:29191167 PMID:29264490 PMID:29588463 PMID:30259503 PMID:30614526 PMID:30718709 PMID:31534736 PMID:32037395 PMID:32165824 PMID:32451492 PMID:33532864 PMID:34526762 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:25326635 PMID:25366773 PMID:25412400 PMID:25741868 PMID:25966130 PMID:25982971 PMID:26003401 PMID:26273430 PMID:26467025 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:30614526 PMID:30718709 PMID:31639430 PMID:32361989 PMID:32531858 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:20827784 PMID:21209035 PMID:21344540 PMID:21642631 PMID:22025579 PMID:22410627 PMID:22773737 PMID:23591405 PMID:24611592 PMID:25133751 PMID:25170860 PMID:25741868 PMID:25780760 PMID:25982971 PMID:27004616 PMID:27659767 PMID:27708425 PMID:28224992 PMID:28492532 PMID:28912962 PMID:30614526 PMID:30718709 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 |
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: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:24280758 PMID:24349080 PMID:24608809 PMID:24793135 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:28143435 PMID:28374938 PMID:28387813 PMID:28418496 PMID:28492532 PMID:28559085 PMID:28717663 PMID:28800606 PMID:29588463 PMID:30029678 PMID:30293640 PMID:30614526 PMID:30718709 PMID:31054281 PMID:31196119 PMID:31960602 PMID:32436246 PMID:33520300 PMID:33777945 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:24849935 PMID:25741868 PMID:27208204 PMID:27486776 PMID:27894351 PMID:28492532 PMID:30614526 PMID:30718709 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 |
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ISO |
DNA:insertion/deletion, nonsense mutation: :263_271delinsGCTCTTA, p.W59X (human) ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar RGD |
PMID:9536098 PMID:15137946 PMID:16199547 PMID:16877420 PMID:17576681 PMID:17632512 PMID:18203199 PMID:20498079 PMID:21052717 PMID:21209035 PMID:21344540 PMID:22626039 PMID:25682901 PMID:25741868 PMID:26325687 PMID:26766544 PMID:27708425 PMID:28041643 PMID:28492532 PMID:29806606 PMID:30614526 PMID:30718709 PMID:31760295 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: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:30614526 PMID:30718709 PMID:31196119 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:16380913 PMID:17576681 PMID:20177705 PMID:20603001 PMID:22353939 PMID:22500027 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: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:16786513 PMID:28492532 |
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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:16786513 PMID:28492532 |
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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:16786513 PMID:28492532 |
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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:16786513 PMID:28492532 |
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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 |
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 |
Ccdc85b |
coiled-coil domain containing 85B |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
Cd248 |
CD248 molecule |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
Cdc42bpg |
CDC42 binding protein kinase gamma |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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NCBI chr 1:203,608,339...203,628,502
Ensembl chr 1:203,608,574...203,628,502
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G |
Cdc42ep2 |
CDC42 effector protein 2 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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NCBI chr 1:203,202,000...203,210,891
Ensembl chr 1:203,201,873...203,210,897
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G |
Cdca5 |
cell division cycle associated 5 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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NCBI chr 1:203,378,550...203,392,027
Ensembl chr 1:203,378,577...203,392,023
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G |
Cep19 |
centrosomal protein 19 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:29127258 |
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NCBI chr11:68,677,869...68,687,117
Ensembl chr11:68,677,871...68,687,022
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G |
Cep290 |
centrosomal protein 290 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bardet-Biedl syndrome |
CTD ClinVar |
PMID:18327255 PMID:18414213 PMID:25741868 PMID:28492532 |
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NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
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G |
Cfl1 |
cofilin 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
Cnih2 |
cornichon family AMPA receptor auxiliary protein 2 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
Cst6 |
cystatin E/M |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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NCBI chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030
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G |
Ctsw |
cathepsin W |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
Dpf2 |
double PHD fingers 2 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
Efemp2 |
EGF containing fibulin extracellular matrix protein 2 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414
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G |
Ehbp1 |
EH domain binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr14:96,093,327...96,380,502
Ensembl chr14:96,093,327...96,345,332
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G |
Ehbp1l1 |
EH domain binding protein 1-like 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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:16786513 PMID:28492532 |
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NCBI chr 1:203,579,850...203,602,226
Ensembl chr 1:203,579,869...203,602,212
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G |
Eif1ad |
eukaryotic translation initiation factor 1A domain containing |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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NCBI chr 1:202,674,362...202,679,662
Ensembl chr 1:202,674,185...202,679,658
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G |
Eml5 |
EMAP like 5 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 6:118,046,655...118,175,831
Ensembl chr 6:118,046,655...118,175,831
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G |
Fam89b |
family with sequence similarity 89, member B |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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:16786513 PMID:28492532 |
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NCBI chr 1:203,350,226...203,351,741
Ensembl chr 1:203,350,189...203,351,742
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G |
Fibp |
FGF1 intracellular binding protein |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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NCBI chr 1:202,768,065...202,772,405
Ensembl chr 1:202,768,078...202,772,399
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G |
Fosl1 |
FOS like 1, AP-1 transcription factor subunit |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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NCBI chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930
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G |
Frmd8 |
FERM domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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NCBI chr 1:203,143,216...203,163,868
Ensembl chr 1:203,143,218...203,163,870
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G |
Gal3st3 |
galactose-3-O-sulfotransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
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 |
Gpha2 |
glycoprotein hormone subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
Htr2b |
5-hydroxytryptamine receptor 2B |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:29127258 |
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NCBI chr 9:86,735,793...86,756,640
Ensembl chr 9:86,742,102...86,755,108
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G |
Ift172 |
intraflagellar transport 172 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:24033266 PMID:24140113 PMID:25168386 |
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NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
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G |
Ift27 |
intraflagellar transport 27 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:16199547 PMID:24488770 PMID:25446516 PMID:28492532 PMID:29704304 PMID:30761183 More...
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NCBI chr 7:109,738,622...109,754,416
Ensembl chr 7:109,738,622...109,754,416
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G |
Il21 |
interleukin 21 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:17160889 PMID:28492532 |
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NCBI chr 2:120,119,598...120,126,941
Ensembl chr 2:120,119,444...120,126,996
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G |
Jag1 |
jagged canonical Notch ligand 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr 3:124,406,794...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:16786513 PMID:28492532 |
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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 |
Kcnk7 |
potassium two pore domain channel subfamily K member 7 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
Klc2 |
kinesin light chain 2 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
|
NCBI chr 1:202,414,555...202,424,787
Ensembl chr 1:202,414,557...202,424,672
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G |
Klhl41 |
kelch-like family member 41 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:15137946 PMID:16877420 PMID:17632512 PMID:25682901 PMID:26325687 PMID:27708425 PMID:28041643 PMID:28492532 PMID:29806606 More...
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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 |
Lrp2 |
LDL receptor related protein 2 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:15137946 PMID:16877420 PMID:17632512 PMID:25682901 PMID:26325687 PMID:27708425 PMID:28041643 PMID:28492532 PMID:29806606 More...
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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:16786513 PMID:28492532 |
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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 |
Majin |
membrane anchored junction protein |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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:16786513 PMID:28492532 |
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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:16786513 PMID:28492532 |
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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 |
|
NCBI chr14:95,630,625...95,645,920
Ensembl chr14:95,630,306...95,645,925
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G |
Men1 |
menin 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
Mir192 |
microRNA 192 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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:16786513 PMID:28492532 |
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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:26900326 PMID:27491411 PMID:28492532 PMID:28624958 PMID:28753627 PMID:28761321 PMID:29127258 PMID:30614526 PMID:30718709 PMID:33138063 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:18327255 |
RGD:11070512 |
NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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G |
mrpl11 |
mitochondrial ribosomal protein L11 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
Mus81 |
MUS81 structure-specific endonuclease subunit |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
|
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:16786513 PMID:28492532 |
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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 |
Npas4 |
neuronal PAS domain protein 4 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
|
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 |
Otx1 |
orthodenticle homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
|
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:16786513 PMID:28492532 |
|
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:16786513 PMID:28492532 |
|
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:16786513 PMID:28492532 |
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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 |
|
NCBI chr14:95,254,274...95,309,168
Ensembl chr14:95,254,589...95,308,285
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G |
Peli3 |
pellino E3 ubiquitin protein ligase family member 3 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
Pola2 |
DNA polymerase alpha 2, accessory subunit |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
Ppp2r5b |
protein phosphatase 2, regulatory subunit B', beta |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
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 |
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:16786513 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
Rela |
RELA proto-oncogene, NF-kB subunit |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
RGD1307947 |
similar to RIKEN cDNA C430008C19 |
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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 |
Rin1 |
Ras and Rab interactor 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
Rnaseh2c |
ribonuclease H2, subunit C |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
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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 8:20,955,447...21,005,225
Ensembl chr 8:20,941,362...21,005,175
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G |
Sac3d1 |
SAC3 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
Scyl1 |
SCY1 like pseudokinase 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:20835237 PMID:25741868 PMID:28492532 |
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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 |
Sf1 |
splicing factor 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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:16786513 PMID:28492532 |
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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 |
Slc25a45 |
solute carrier family 25, member 45 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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NCBI chr 1:203,166,362...203,174,473
Ensembl chr 1:203,166,683...203,174,473
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G |
Slc29a2 |
solute carrier family 29 member 2 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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NCBI chr 1:202,327,641...202,335,185
Ensembl chr 1:202,327,354...202,335,171
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G |
Slx4ip |
SLX4 interacting protein |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:124,220,215...124,396,797
Ensembl chr 3:124,221,198...124,396,797
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G |
Snap25 |
synaptosome associated protein 25 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:124,041,898...124,123,761
Ensembl chr 3:124,041,898...124,123,760
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G |
Snx15 |
sorting nexin 15 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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NCBI chr 1:203,417,029...203,426,173
Ensembl chr 1:203,417,029...203,426,247
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G |
Snx32 |
sorting nexin 32 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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NCBI chr 1:202,801,090...202,818,731
Ensembl chr 1:202,802,394...202,818,743
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G |
Spata7 |
spermatogenesis associated 7 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 6:117,879,828...117,925,284
Ensembl chr 6:117,879,823...117,925,284
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G |
Syvn1 |
synoviolin 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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 |
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 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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:16786513 PMID:28492532 |
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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:16786513 PMID:28492532 |
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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:17397051 PMID:18327255 PMID:18414213 PMID:19574260 PMID:20232449 PMID:21068128 PMID:21866095 PMID:25741868 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28492532 PMID:18327255 More...
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RGD:11070512 |
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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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:19303295 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:30823891 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:16786513 PMID:28492532 |
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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 |
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:25326637 PMID:25741868 PMID:25999674 PMID:26401321 PMID:28492532 PMID:28914264 PMID:29030401 PMID:30718709 PMID:30886724 PMID:31736247 PMID:32962042 PMID:33138063 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 |
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 |
Vps51 |
VPS51 subunit of GARP complex |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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NCBI chr 1:203,360,434...203,370,295
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:25741868 PMID:27158779 PMID:28289185 PMID:28492532 PMID:29588463 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: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:16786513 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:9536098 PMID:10564830 PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:12920096 PMID:15314642 PMID:15770229 PMID:16199547 PMID:16327777 PMID:16877420 PMID:17003356 PMID:17576681 PMID:17980398 PMID:18032602 PMID:18669544 PMID:18766993 PMID:20177705 PMID:20472660 PMID:20498079 PMID:20876674 PMID:21052717 PMID:21209035 PMID:21344540 PMID:21517826 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:24746959 PMID:25074776 PMID:25170860 PMID:25326635 PMID:25741868 PMID:26467025 PMID:26518167 PMID:26872967 PMID:27032803 PMID:27434533 PMID:27486776 PMID:27659767 PMID:27788217 PMID:28041643 PMID:28341476 PMID:28492532 PMID:28559085 PMID:29099798 PMID:29264490 PMID:30259503 PMID:30614526 PMID:30718709 PMID:32165824 PMID:32451492 PMID:33532864 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 |
Zfpl1 |
zinc finger protein-like 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID:16786513 PMID:28492532 |
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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:16786513 PMID:28492532 |
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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:16786513 PMID:28492532 |
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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, modifier of |
ClinVar OMIM |
PMID:9714014 PMID:15314642 |
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NCBI chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937
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G |
Bbip1 |
BBSome interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 |
ClinVar |
PMID:24026985 |
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NCBI chr 1:252,943,589...252,959,578
Ensembl chr 1:252,945,557...252,959,352
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G |
Bbs1 |
Bardet-Biedl syndrome 1 |
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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:17576681 PMID:17980398 PMID:18032602 PMID:18327255 PMID:18669544 PMID:18766993 PMID:19797195 PMID:20120035 PMID:20177705 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: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:26261414 PMID:26467025 PMID:26518167 PMID:26566502 PMID:26872967 PMID:27032803 PMID:27434533 PMID:27659767 PMID:27788217 PMID:27884173 PMID:27894351 PMID:28041643 PMID:28143435 PMID:28492532 PMID:28559085 PMID:29191167 PMID:29264490 PMID:29588463 PMID:30076350 PMID:30259503 PMID:30484961 PMID:30614526 PMID:30718709 PMID:31534736 PMID:32037395 PMID:32165824 PMID:32451492 PMID:33532864 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:21044901 PMID:21209035 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 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: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, modifier of |
OMIM ClinVar |
PMID:12677556 PMID:16327777 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 |
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 |
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ISO |
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RGD |
PMID:26216965 |
RGD:11532386 |
NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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G |
Wdpcp |
WD repeat containing planar cell polarity effector |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
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G |
Zdhhc24 |
zinc finger, DHHC-type containing 24 |
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ISO |
ClinVar Annotator: match by term: 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:17576681 PMID:17980398 PMID:18032602 PMID:18669544 PMID:18766993 PMID:20177705 PMID:20498079 PMID:20876674 PMID:21052717 PMID:21258341 PMID:21344540 PMID:21517826 PMID:21642631 PMID:22410627 PMID:22581970 PMID:22773737 PMID:22940089 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:26467025 PMID:26518167 PMID:26566502 PMID:26872967 PMID:27032803 PMID:27434533 PMID:27659767 PMID:27788217 PMID:28041643 PMID:28143435 PMID:28492532 PMID:28559085 PMID:29264490 PMID:30076350 PMID:30259503 PMID:30484961 PMID:30614526 PMID:30718709 PMID:32165824 PMID:32451492 PMID:33532864 More...
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NCBI chr 1:202,175,832...202,181,943
Ensembl chr 1:202,175,807...202,182,880
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G |
Bbs2 |
Bardet-Biedl syndrome 2 |
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ISO |
ClinVar Annotator: match by term: Bardet-biedl syndrome 1/2, digenic |
ClinVar |
PMID:11285252 PMID:11567139 PMID:19402160 PMID:20177705 PMID:20498079 PMID:21344540 PMID:21642631 PMID:22410627 PMID:23829372 PMID:24608809 PMID:25541840 PMID:25741868 PMID:26518167 PMID:28492532 More...
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NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
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G |
Bbs7 |
Bardet-Biedl syndrome 7 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1/7, digenic |
ClinVar |
PMID:12567324 PMID:20498079 PMID:21642631 PMID:22500027 PMID:23572516 PMID:28492532 More...
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NCBI chr 2:119,434,760...119,474,665
Ensembl chr 2:119,434,760...119,474,396
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G |
Bbs10 |
Bardet-Biedl syndrome 10 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 |
OMIM ClinVar |
PMID:16582908 PMID:16823392 PMID:17106446 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: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:32531858 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 |
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 More...
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NCBI chr 5:78,758,142...79,744,021
Ensembl chr 5:78,758,142...79,748,273
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G |
Trim32 |
tripartite motif-containing 32 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 11 |
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 More...
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NCBI chr 5:79,005,139...79,016,615
Ensembl chr 5:78,999,389...79,022,018
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G |
Bbs12 |
Bardet-Biedl syndrome 12 |
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ISO |
ClinVar Annotator: match by term: 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:21642631 PMID:22025579 PMID:22410627 PMID:22773737 PMID:23591405 PMID:24611592 PMID:25133751 PMID:25170860 PMID:25741868 PMID:25780760 PMID:25982971 PMID:27004616 PMID:27659767 PMID:27708425 PMID:28224992 PMID:28492532 PMID:28912962 PMID:30614526 PMID:30718709 PMID:31196119 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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G |
Mks1 |
MKS transition zone complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 13 |
OMIM ClinVar |
PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17437276 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:25966130 PMID:26092869 PMID:26490104 PMID:27570071 PMID:28224992 PMID:28492532 PMID:28497568 PMID:28981474 PMID:30076350 PMID:30718709 PMID:33584783 PMID:34008892 More...
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NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
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G |
Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 PMID:17576681 PMID:17617513 PMID:17964524 PMID:18327255 PMID:18414213 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22355252 PMID:22693042 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23591405 PMID:23954617 PMID:24265693 PMID:25097241 PMID:25324289 PMID:25377065 PMID:25439097 PMID:25741868 PMID:25818971 PMID:26047050 PMID:26092869 PMID:26467025 PMID:26477546 PMID:27353947 PMID:27375279 PMID:28224992 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28912962 PMID:29482223 PMID:30718709 PMID:30776697 PMID:30902645 PMID:31624253 PMID:33546218 PMID:33726816 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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G |
RGD1307947 |
similar to RIKEN cDNA C430008C19 |
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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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G |
Tmem67 |
transmembrane protein 67 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 14 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 14, modifier of |
OMIM ClinVar |
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:26035863 PMID:26092869 PMID:26729329 PMID:28492532 PMID:29127258 More...
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NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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G |
Wdpcp |
WD repeat containing planar cell polarity effector |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 15 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:20671153 PMID:25326635 PMID:25427950 PMID:25741868 PMID:27158779 PMID:28289185 PMID:28492532 PMID:32860008 More...
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NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
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G |
Akt3 |
AKT serine/threonine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 |
ClinVar |
PMID:28492532 |
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NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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G |
Pde11a |
phosphodiesterase 11A |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 |
ClinVar |
PMID:16767104 PMID:19671705 PMID:20351491 PMID:21047926 PMID: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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G |
Sdccag8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 |
OMIM ClinVar |
PMID:16199547 PMID:20835237 PMID:22190896 PMID:22626039 PMID:23188109 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 |
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 |
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NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192
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G |
Stx3 |
syntaxin 3 |
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ISO |
protein:increased expression:photoreceptor outer segment layer |
RGD |
PMID:26216965 |
RGD:11532386 |
NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805
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G |
Stxbp1 |
syntaxin binding protein 1 |
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ISO |
protein:increased expression:photoreceptor outer segment layer |
RGD |
PMID:26216965 |
RGD:11532386 |
NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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G |
Bbip1 |
BBSome interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 18 |
OMIM ClinVar |
PMID:24026985 PMID:25741868 PMID:28492532 |
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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 |
Ift27 |
intraflagellar transport 27 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 19 |
OMIM ClinVar |
PMID:16199547 PMID:24488770 PMID:25446516 PMID:25741868 PMID:28492532 PMID:29704304 PMID:30761183 More...
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NCBI chr 7:109,738,622...109,754,416
Ensembl chr 7:109,738,622...109,754,416
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G |
Bbs2 |
Bardet-Biedl syndrome 2 |
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ISO |
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: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:31960602 PMID:32436246 PMID:33520300 PMID:33777945 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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G |
Bbs2 |
Bardet-Biedl syndrome 2 |
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ISO |
ClinVar Annotator: match by term: Bardet-biedl syndrome 2/4, digenic |
ClinVar |
PMID:11567139 PMID:20498079 PMID:26355662 PMID:27894351 PMID:28492532 |
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NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
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G |
Bbs2 |
Bardet-Biedl syndrome 2 |
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ISO |
ClinVar Annotator: match by term: Bardet-biedl syndrome 2/6, digenic |
ClinVar |
PMID:11285252 PMID:11567139 PMID:15666242 PMID:20120035 PMID:20177705 PMID:20498079 PMID:21344540 PMID:25741868 PMID:28492532 PMID:30718709 More...
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NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
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G |
Mkks |
MKKS centrosomal shuttling protein |
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ISO |
ClinVar Annotator: match by term: Bardet-biedl syndrome 2/6, digenic |
ClinVar |
PMID:10802661 PMID:10973251 PMID:11567139 PMID:18094050 PMID:20177705 PMID:20226561 PMID:20498079 PMID:21209035 PMID:22446187 PMID:25741868 PMID:25982971 PMID:28492532 More...
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NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
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G |
Ift172 |
intraflagellar transport 172 |
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ISO |
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OMIM |
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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 |
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:25741868 PMID:26355662 PMID:26854863 PMID:27008867 PMID:29127258 More...
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NCBI chr 5:23,996,395...24,015,609
Ensembl chr 5:23,996,718...24,015,605
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G |
Ift172 |
intraflagellar transport 172 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 22 |
ClinVar |
PMID:24290075 PMID:25168386 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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G |
Ift74 |
intraflagellar transport 74 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 22 |
OMIM ClinVar |
PMID:25741868 PMID:27486776 PMID:28492532 PMID:32144365 PMID:33531668 PMID:33748949 More...
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NCBI chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833
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G |
Krtcap3 |
keratinocyte associated protein 3 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 22 |
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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G |
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:27486776 PMID:28041643 PMID:28130426 PMID:28492532 PMID:29806606 PMID:31054281 PMID:31736247 PMID:33090715 More...
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NCBI chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937
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G |
Epha6 |
Eph receptor A6 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 3 |
ClinVar |
PMID:15258860 PMID:19858128 PMID:20142850 PMID:27486776 PMID:28492532 |
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NCBI chr11:39,757,870...40,708,901
Ensembl chr11:39,757,181...40,698,311
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G |
Bbs4 |
Bardet-Biedl syndrome 4 |
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ISO |
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:25741868 PMID:26518167 PMID:27208204 PMID:27486776 PMID:28492532 PMID:29039417 More...
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NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607
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G |
Bbs5 |
Bardet-Biedl syndrome 5 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 5 |
OMIM ClinVar |
PMID:15137946 PMID:16199547 PMID:18203199 PMID:21052717 PMID:21209035 PMID:22626039 PMID:25741868 PMID:26325687 PMID:28492532 PMID:30718709 PMID:31760295 PMID:32641690 PMID:33572860 More...
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NCBI chr 3:54,410,429...54,431,831
Ensembl chr 3:54,410,775...54,431,829
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G |
Mkks |
MKKS centrosomal shuttling protein |
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ISO |
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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G |
Bbs10 |
Bardet-Biedl syndrome 10 |
|
ISO |
ClinVar Annotator: match by term: Bardet-biedl syndrome 6/10, digenic |
ClinVar |
PMID:16582908 PMID:20120035 PMID:20805367 PMID:21209035 PMID:24400638 PMID:24746959 PMID:25741868 PMID:26467025 PMID:27385962 PMID:28041643 PMID:28492532 PMID:30614526 PMID:30718709 More...
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NCBI chr 7:46,751,028...46,754,132
Ensembl chr 7:46,750,993...46,754,141
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G |
Bbs7 |
Bardet-Biedl syndrome 7 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 7 |
OMIM ClinVar |
PMID:12567324 PMID:19402160 PMID:20498079 PMID:21209035 PMID:21344540 PMID:21937992 PMID:22302990 PMID:25741868 PMID:26518167 PMID:28492532 PMID:30614526 PMID:30718709 More...
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NCBI chr 2:119,434,760...119,474,665
Ensembl chr 2:119,434,760...119,474,396
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G |
Ttc8 |
tetratricopeptide repeat domain 8 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 8 |
OMIM ClinVar |
PMID:9536098 PMID:14520415 PMID:16308660 PMID:17576681 PMID:20177705 PMID:21044901 PMID:24033266 PMID:25097241 PMID:25326637 PMID:25741868 PMID:26401321 PMID:28492532 PMID:28914264 PMID:29030401 PMID:30718709 PMID:30886724 PMID:32962042 PMID:33138063 PMID:33532864 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:22353939 PMID:23160099 PMID:23757202 PMID:25741868 PMID:26518167 PMID:28492532 PMID:30614526 PMID:30718709 PMID:30773290 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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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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Ttc26 |
tetratricopeptide repeat domain 26 |
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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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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: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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Dnaaf2 |
dynein, axonemal, assembly factor 2 |
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ISO |
ClinVar Annotator: match by term: Immotile cilia syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199
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Dnaaf3 |
dynein, axonemal, assembly factor 3 |
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ISO |
ClinVar Annotator: match by term: Immotile cilia syndrome |
ClinVar |
PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
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Dnah11 |
dynein, axonemal, heavy chain 11 |
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ISO |
ClinVar Annotator: match by term: Immotile cilia syndrome |
ClinVar |
PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
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Dnah5 |
dynein, axonemal, heavy chain 5 |
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ISO |
ClinVar Annotator: match by term: Immotile cilia syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
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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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Mgat2 |
alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase |
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ISO |
ClinVar Annotator: match by term: Immotile cilia syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177
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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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Tnni3 |
troponin I3, cardiac type |
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ISO |
ClinVar Annotator: match by term: Immotile cilia syndrome |
ClinVar |
PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
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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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Agpat2 |
1-acylglycerol-3-phosphate O-acyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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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:17409309 PMID:17576681 PMID:18054307 PMID:18414213 PMID:21068128 PMID:21623382 PMID:21866095 PMID:21937992 PMID:22236771 PMID:22693042 PMID:22773737 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:26729329 PMID:26759440 PMID:28041643 PMID:28118669 PMID:28431631 PMID:28442542 PMID:28492532 PMID:28497568 PMID:29186038 PMID:29343940 PMID:31319225 PMID:32865313 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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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:16007087 PMID:21493627 PMID:27123465 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:16007087 PMID:21493627 PMID:27123465 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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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:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197
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Armc9 |
armadillo repeat containing 9 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
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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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:16007087 PMID:21493627 PMID:27123465 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:16007087 PMID:17576681 PMID:21493627 PMID:24886560 PMID:25741868 PMID:25920555 PMID:26092869 PMID:26477546 PMID:27123465 PMID:28492532 PMID:32622957 PMID:34906502 More...
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NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
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B9d2 |
B9 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 PMID:33234550 |
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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:19777577 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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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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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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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 |
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:25525159 PMID:25741868 PMID:26092869 PMID:26310553 PMID:26467025 PMID:26477546 PMID:26485645 PMID:26673778 PMID:26729329 PMID:26862157 PMID:27081510 PMID:27082236 PMID:27848944 PMID:27894351 PMID:28492532 PMID:29165578 PMID:29620724 PMID:30267408 PMID:31680349 PMID:32165824 PMID:32488064 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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Cd38 |
CD38 molecule |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:19777577 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 |
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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:20307669 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22334370 PMID:22355252 PMID:22406018 PMID:22693042 PMID:22699515 PMID:23027964 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:26667666 PMID:26673778 PMID:27032803 PMID:27208204 PMID:27353947 PMID:27375279 PMID:27422788 PMID:27491411 PMID:27821535 PMID:27848944 PMID:27894351 PMID:28041643 PMID:28157192 PMID:28224992 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:29641573 PMID:29844330 PMID:29970488 PMID:30193310 PMID:30718709 PMID:30776697 PMID:30902645 PMID:31091803 PMID:31624253 PMID:31630094 PMID:31680349 PMID:31734136 PMID:32139166 PMID:32581362 PMID:32864857 PMID:32865313 PMID:33532864 PMID:33546218 PMID:33576794 PMID:33726816 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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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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Cops3 |
COP9 signalosome subunit 3 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16007087 PMID:21493627 PMID:27123465 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 |
PMID:22425360 PMID:24033266 PMID:25741868 PMID:26092869 PMID:28492532 |
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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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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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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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Drc3 |
dynein regulatory complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16007087 PMID:21493627 PMID:27123465 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:16007087 PMID:21493627 PMID:27123465 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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Egfl7 |
EGF-like-domain, multiple 7 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:9,404,622...9,416,879
Ensembl chr 3:9,407,520...9,416,879
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G |
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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G |
Entr1 |
endosome associated trafficking regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:9,200,967...9,207,688
Ensembl chr 3:9,200,967...9,207,688
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G |
Epn2 |
epsin 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 |
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NCBI chr10:46,197,785...46,259,673
Ensembl chr10:46,197,785...46,259,642
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G |
Epx |
eosinophil peroxidase |
|
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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G |
Exoc8 |
exocyst complex component 8 |
|
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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G |
Fam149b1 |
family with sequence similarity 149, member B1 |
|
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:16007087 PMID:21493627 PMID:27123465 PMID:28492532 |
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NCBI chr10:46,363,029...46,388,030
Ensembl chr10:46,363,051...46,388,019
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G |
Fbxl5 |
F-box and leucine-rich repeat protein 5 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:19777577 PMID:28492532 |
|
NCBI chr14:67,305,109...67,347,383
Ensembl chr14:67,267,801...67,347,383
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G |
Fbxw10 |
F-box and WD repeat domain containing 10 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16007087 PMID:21493627 PMID:27123465 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 |
Fgfbp1 |
fibroblast growth factor binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:19777577 PMID:28492532 |
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NCBI chr14:67,103,686...67,107,492
Ensembl chr14:67,104,545...67,107,496
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G |
Flcn |
folliculin |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16007087 PMID:21493627 PMID:27123465 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 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16007087 PMID:21493627 PMID:27123465 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 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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G |
Gdpd1 |
glycerophosphodiester phosphodiesterase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 |
|
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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G |
Grap |
GRB2-related adaptor protein |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 |
|
NCBI chr10:46,298,965...46,352,057
Ensembl chr10:46,332,909...46,352,056
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G |
Gtf2h3 |
general transcription factor IIH subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
|
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 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:24140113 PMID:26092869 |
|
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 |
|
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:17576681 PMID:18414213 PMID:19668215 PMID:19668216 PMID:23034536 PMID:23386033 PMID:23847139 PMID:25133751 PMID:25741868 PMID:25818971 PMID:25999675 PMID:26092869 PMID:27081510 PMID:28125082 PMID:28454995 PMID:28492532 PMID:28559085 PMID:28771248 PMID:29052317 PMID:29186038 PMID:29230161 PMID:29555955 PMID:29915382 PMID:29987673 PMID:30202406 PMID:31589614 PMID:33270637 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 |
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 |
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 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:19764032 PMID:23954617 PMID:27821535 PMID:28492532 |
|
NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214
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G |
Llgl1 |
LLGL scribble cell polarity complex component 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 |
|
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 |
|
NCBI chr 7:35,406,147...35,443,324
Ensembl chr 7:35,411,555...35,443,320
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G |
LOC688126 |
hypothetical protein LOC688126 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:73,895,343...73,916,133
Ensembl chr10:73,895,343...73,916,133
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G |
LOC690035 |
similar to Protein KIAA0586 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:20301500 PMID:24033266 PMID:25741868 PMID:26026149 PMID:26096313 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 |
|
NCBI chr10:72,606,944...72,626,535
Ensembl chr10:72,606,944...72,626,535
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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 |
Mapk7 |
mitogen-activated protein kinase 7 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 |
|
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:16007087 PMID:21493627 PMID:27123465 PMID:28492532 |
|
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:16007087 PMID:21493627 PMID:27123465 PMID:28492532 |
|
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:16007087 PMID:21493627 PMID:27123465 PMID:28492532 |
|
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:28492532 |
|
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:23351400 PMID:23736532 PMID:24033266 PMID:24608809 PMID:24886560 PMID:25741868 PMID:25966130 PMID:26092869 PMID:26490104 PMID:26862157 PMID:27377014 PMID:27570071 PMID:28224992 PMID:28492532 PMID:28497568 PMID:29620724 PMID:30076350 PMID:30718709 PMID:31191208 PMID:33584783 PMID:34008892 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 |
Mpo |
myeloperoxidase |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
|
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:16007087 PMID:21493627 PMID:27123465 PMID:28492532 |
|
NCBI chr10:44,453,929...44,569,442
Ensembl chr10:44,453,929...44,569,118
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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 |
|
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:16007087 PMID:21493627 PMID:27123465 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 |
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:28492532 |
|
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Nphp3 |
nephrocystin 3 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
|
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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 |
Nt5m |
5',3'-nucleotidase, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 |
|
NCBI chr10:44,652,845...44,680,549
Ensembl chr10:44,652,975...44,679,150
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G |
Ofd1 |
Ofd1 centriole and centriolar satellite protein |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:9536098 PMID:11179005 PMID:12595504 PMID:16199547 PMID:16311594 PMID:16783569 PMID:17576681 PMID:18414213 PMID:18546297 PMID:23033313 PMID:24476948 PMID:24884629 PMID:25741868 PMID:26092869 PMID:26467025 PMID:27081566 PMID:28289185 PMID:28492532 More...
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NCBI chr X:28,015,347...28,056,115
Ensembl chr X:28,015,347...28,056,110
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G |
Olr1521 |
olfactory receptor 1521 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:72,693,014...72,693,949
Ensembl chr10:72,689,839...72,696,182
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G |
Olr1523 |
olfactory receptor 1523 |
|
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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G |
Pdpr |
pyruvate dehydrogenase phosphatase regulatory subunit |
|
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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G |
Pemt |
phosphatidylethanolamine N-methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16007087 PMID:21493627 PMID:27123465 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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G |
Pibf1 |
progesterone immunomodulatory binding factor 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:25741868 PMID:26167768 PMID:28492532 |
|
NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712
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G |
Pld6 |
phospholipase D family, member 6 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 |
|
NCBI chr10:44,577,740...44,581,686
Ensembl chr10:44,577,675...44,581,077
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G |
Pmpca |
peptidase, mitochondrial processing subunit alpha |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
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G |
Ppm1d |
protein phosphatase, Mg2+/Mn2+ dependent, 1D |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:70,172,603...70,208,607
Ensembl chr10:70,172,603...70,208,607
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G |
Ppm1e |
protein phosphatase, Mg2+/Mn2+ dependent, 1E |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
|
NCBI chr10:72,051,643...72,187,439
Ensembl chr10:72,055,208...72,187,282
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G |
Prom1 |
prominin 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:19777577 PMID:28492532 |
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NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527
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G |
Prpsap2 |
phosphoribosyl pyrophosphate synthetase-associated protein 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 |
|
NCBI chr10:46,410,817...46,445,929
Ensembl chr10:46,410,835...46,445,849
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G |
Prr11 |
proline rich 11 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,898,858...71,943,325
Ensembl chr10:71,901,202...71,921,012
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G |
Ptrh2 |
peptidyl-tRNA hydrolase 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,505,113...71,515,297
Ensembl chr10:71,504,956...71,515,398
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G |
Rad51c |
RAD51 paralog C |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,205,032...72,231,643
Ensembl chr10:72,205,032...72,231,248
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G |
Rai1 |
retinoic acid induced 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 |
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NCBI chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232
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G |
Rasd1 |
ras related dexamethasone induced 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 |
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NCBI chr10:44,766,451...44,775,773
Ensembl chr10:44,766,455...44,768,186
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G |
Rcor1 |
REST corepressor 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:26489029 |
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NCBI chr 6:130,069,606...130,146,164
Ensembl chr 6:130,069,392...130,146,153
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RGD1307947 |
similar to RIKEN cDNA C430008C19 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 PMID:19764032 PMID:20683928 PMID:20690115 PMID:23954617 PMID:24850569 PMID:25377065 PMID:25741868 PMID:27821535 PMID:28492532 PMID:28559085 PMID:29588463 PMID:30193310 More...
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NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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G |
RGD1310166 |
similar to Chromodomain-helicase-DNA-binding protein 1 (CHD-1) |
|
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 |
Rnf112 |
ring finger protein 112 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 |
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NCBI chr10:46,121,146...46,126,691
Ensembl chr10:46,121,148...46,126,699
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G |
Rnf43 |
ring finger protein 43 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,461,508...72,535,977
Ensembl chr10:72,464,348...72,536,977
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G |
Rnft1 |
ring finger protein, transmembrane 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,310,052...71,322,507
Ensembl chr10:71,310,104...71,323,778
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G |
Rpgrip1l |
Rpgrip1-like |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:19574260 PMID:19763152 PMID:20301500 PMID:20307669 PMID:21866095 PMID:22406018 PMID:22693042 PMID:23188109 PMID:23351400 PMID:24033266 PMID:25640679 PMID:25741868 PMID:26092869 PMID:27434533 PMID:27717089 PMID:28492532 PMID:29343940 PMID:29620724 PMID:29991045 More...
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NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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G |
Rps6kb1 |
ribosomal protein S6 kinase B1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,323,777...71,367,908
Ensembl chr10:71,323,777...71,367,908
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G |
Scpep1 |
serine carboxypeptidase 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,703,275...73,732,892
Ensembl chr10:73,703,278...73,732,850
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G |
Sec16a |
SEC16 homolog A, endoplasmic reticulum export factor |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:9,229,687...9,264,837
Ensembl chr 3:9,229,687...9,264,273
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G |
Septin4 |
septin 4 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,366,729...72,390,764
Ensembl chr10:72,366,873...72,390,768
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G |
Shmt1 |
serine hydroxymethyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 |
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NCBI chr10:45,468,698...45,497,820
Ensembl chr10:45,468,700...45,497,820
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G |
Ska2 |
spindle and kinetochore associated complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,921,474...71,939,461
Ensembl chr10:71,921,582...71,939,458
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G |
Slc47a1 |
solute carrier family 47 member 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 |
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NCBI chr10:46,034,115...46,088,617
Ensembl chr10:46,034,122...46,087,637
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G |
Slc5a10 |
solute carrier family 5 member 10 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 |
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NCBI chr10:46,352,064...46,400,795
Ensembl chr10:46,352,061...46,399,811
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G |
Smcr8 |
SMCR8-C9orf72 complex subunit |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 |
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NCBI chr10:45,457,962...45,465,101
Ensembl chr10:45,457,605...45,468,876
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G |
Smg8 |
SMG8 nonsense mediated mRNA decay factor |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,886,742...71,895,780
Ensembl chr10:71,886,744...71,895,760
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G |
Srebf1 |
sterol regulatory element binding transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 |
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NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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G |
Srsf1 |
serine and arginine rich splicing factor 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336
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G |
Supt4h1 |
SPT4 homolog, DSIF elongation factor subunit |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,539,323...72,545,582
Ensembl chr10:72,539,382...72,545,831
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G |
Tbx2 |
T-box transcription factor 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:70,679,670...70,688,868
Ensembl chr10:70,679,518...70,688,529
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G |
Tbx4 |
T-box transcription factor 4 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:70,730,686...70,760,829
Ensembl chr10:70,731,163...70,760,825
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G |
Tctn1 |
tectonic family member 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21725307 PMID:22693042 PMID:25741868 PMID:27894351 PMID:28492532 More...
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NCBI chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267
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G |
Tctn2 |
tectonic family member 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21565611 PMID:22331178 PMID:24033266 PMID:25640679 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 More...
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NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
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G |
Tex14 |
testis expressed 14, intercellular bridge forming factor |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,231,766...72,356,938
Ensembl chr10:72,231,801...72,355,805
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tmem138 |
transmembrane protein 138 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
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NCBI chr 1:207,219,113...207,226,159
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G |
Tmem17 |
transmembrane protein 17 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
|
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NCBI chr14:96,483,648...96,524,238
Ensembl chr14:96,518,793...96,524,233
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G |
Tmem216 |
transmembrane protein 216 |
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ISO |
DNA:missense mutation:exon:c.218G>T(p.R73L)(human) ClinVar Annotator: match by term: Joubert syndrome |
ClinVar RGD |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 PMID:22282472 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26673778 PMID:28492532 PMID:28497568 PMID:20512146 More...
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RGD:11067331 |
NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754
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G |
Tmem218 |
transmembrane protein 218 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:33791682 |
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NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
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G |
Tmem231 |
transmembrane protein 231 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269
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G |
Tmem237 |
transmembrane protein 237 |
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ISO |
DNA:nonsense,transition mutations:cds,splice junction: ClinVar Annotator: match by term: Joubert syndrome |
ClinVar RGD |
PMID:17603801 PMID:22152675 PMID:22981120 PMID:24033266 PMID:25741868 PMID:28492532 PMID:22152675 More...
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RGD:11561921 |
NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
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G |
Tmem67 |
transmembrane protein 67 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders |
ClinVar |
PMID:2929661 PMID:8862632 PMID:9375913 PMID:9536098 PMID:10567047 PMID:12368986 PMID:16199547 PMID:16541367 PMID:17160906 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:19763152 PMID:20232449 PMID:20307669 PMID:20607301 PMID:21068128 PMID:21493627 PMID:21633164 PMID:21866095 PMID:22406018 PMID:23351400 PMID:23559409 PMID:24033266 PMID:24039893 PMID:25326635 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26191240 PMID:26467025 PMID:26546361 PMID:26729329 PMID:27434533 PMID:27457812 PMID:27491411 PMID:28125082 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28719906 PMID:28973083 PMID:29127258 PMID:29568536 PMID:29891882 PMID:29974258 PMID:30455918 PMID:31019026 PMID:31589614 PMID:31738409 PMID:32000717 PMID:33532864 PMID:34032358 PMID:34645491 PMID:34675960 PMID:34964473 More...
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NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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G |
Tmtc3 |
transmembrane O-mannosyltransferase targeting cadherins 3 |
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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 7:35,264,886...35,310,010
Ensembl chr 7:35,264,892...35,310,385
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G |
Tnfrsf13b |
TNF receptor superfamily member 13B |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 |
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NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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G |
Togaram1 |
TOG array regulator of axonemal microtubules 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:32453716 PMID:32747439 |
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NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:83,018,859...83,082,807
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G |
Tom1l2 |
target of myb1 like 2 membrane trafficking protein |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 |
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NCBI chr10:45,036,034...45,158,168
Ensembl chr10:45,036,035...45,158,032
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G |
Top3a |
DNA topoisomerase III alpha |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 |
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NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559
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G |
Trappc2 |
trafficking protein particle complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr X:28,004,051...28,015,336
Ensembl chr X:27,994,054...28,015,346
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G |
Trim25 |
tripartite motif-containing 25 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:73,812,818...73,831,271
Ensembl chr10:73,812,818...73,831,257
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G |
Trim37 |
tripartite motif-containing 37 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,943,384...72,075,567
Ensembl chr10:71,943,375...72,075,558
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G |
Tspoap1 |
TSPO associated protein 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,554,220...72,586,402
Ensembl chr10:72,560,980...72,586,412
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
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G |
Tubd1 |
tubulin, delta 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,367,936...71,391,387
Ensembl chr10:71,368,133...71,391,266
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G |
Tvp23b |
trans-golgi network vesicle protein 23 homolog B |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16007087 PMID:21493627 PMID:27123465 PMID:28492532 |
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NCBI chr10:47,553,789...47,565,203
Ensembl chr10:47,553,831...47,565,203
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G |
Ush2a |
usherin |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:16963483 PMID:24033266 PMID:25741868 PMID:28041643 PMID:28492532 PMID:29767709 PMID:30245029 PMID:31429209 More...
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NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
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G |
Usp32 |
ubiquitin specific peptidase 32 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:69,855,885...70,029,075
Ensembl chr10:69,855,885...70,029,137
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G |
Vezf1 |
vascular endothelial zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:72,859,669...72,876,111
Ensembl chr10:72,859,877...72,876,111
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G |
Vmp1 |
vacuole membrane protein 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,405,058...71,505,045
Ensembl chr10:71,405,452...71,505,007
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G |
Wdpcp |
WD repeat containing planar cell polarity effector |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:27158779 PMID:28492532 |
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NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113
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G |
Ypel2 |
yippee-like 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr10:71,746,308...71,803,855
Ensembl chr10:71,746,311...71,803,911
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G |
Zic1 |
Zic family member 1 |
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ISS |
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MouseDO |
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NCBI chr 8:91,908,548...91,918,020
Ensembl chr 8:91,908,576...91,912,731
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G |
Ahi1 |
Abelson helper integration site 1 |
|
ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:15322546 PMID:15467982 PMID:16155189 PMID:16199547 PMID:16453322 PMID:17409309 PMID:17576681 PMID:18054307 PMID:18414213 PMID:21068128 PMID:21623382 PMID:21866095 PMID:21937992 PMID:22236771 PMID:22693042 PMID:22773737 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:26729329 PMID:26759440 PMID:28041643 PMID:28118669 PMID:28431631 PMID:28442542 PMID:28492532 PMID:28497568 PMID:29186038 PMID:31319225 PMID:32865313 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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G |
Arl13b |
ADP-ribosylation factor like GTPase 13B |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr11:150,100...217,103
Ensembl chr11:150,955...217,197
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G |
B9d1 |
B9 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis |
ClinVar |
PMID:24886560 PMID:26092869 |
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NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
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G |
C2cd3 |
C2 domain containing 3 centriole elongation regulator |
|
ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis |
ClinVar |
PMID:24997988 PMID:26092869 |
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NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520
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G |
Cc2d2a |
coiled-coil and C2 domain containing 2A |
|
ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID: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:25525159 PMID:25741868 PMID:26092869 PMID:26310553 PMID:26467025 PMID:26477546 PMID:26485645 PMID:26673778 PMID:26729329 PMID:26862157 PMID:27081510 PMID:27082236 PMID:27848944 PMID:27894351 PMID:28492532 PMID:29165578 PMID:29620724 PMID:30267408 PMID:31680349 PMID:32165824 PMID:32488064 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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G |
Cep290 |
centrosomal protein 290 |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:16199547 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17964524 PMID:19959640 PMID:20079931 PMID:20690115 PMID:21153841 PMID:21602930 PMID:21866095 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23847139 PMID:25324289 PMID:25377065 PMID:25439097 PMID:25741868 PMID:26047050 PMID:26092869 PMID:26673778 PMID:27375279 PMID:27491411 PMID:28224992 PMID:28492532 PMID:28497568 PMID:28559085 PMID:29146704 PMID:29186038 PMID:29398085 PMID:29482223 PMID:29641573 PMID:30718709 PMID:30776697 PMID:30902645 PMID:31624253 PMID:31630094 PMID:32865313 PMID:33546218 PMID:33726816 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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G |
Cluap1 |
clusterin associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:28492532 PMID:28679688 |
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NCBI chr10:11,587,963...11,619,711
Ensembl chr10:11,588,017...11,619,711
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G |
Cplane1 |
ciliogenesis and planar polarity effector complex subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:16199547 PMID:22425360 PMID:24033266 PMID:24178751 PMID:25741868 PMID:26092869 PMID:28492532 More...
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NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
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G |
Fto |
FTO, alpha-ketoglutarate dependent dioxygenase |
|
ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis |
ClinVar |
PMID:28492532 |
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NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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G |
Inpp5e |
inositol polyphosphate-5-phosphatase E |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 1 ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9536098 PMID:10577920 PMID:15786477 PMID:17576681 PMID:18414213 PMID:19668215 PMID:19668216 PMID:23034536 PMID:23386033 PMID:23847139 PMID:25133751 PMID:25741868 PMID:25818971 PMID:25999675 PMID:26092869 PMID:27081510 PMID:28125082 PMID:28454995 PMID:28492532 PMID:28559085 PMID:28771248 PMID:29052317 PMID:29186038 PMID:29230161 PMID:29555955 PMID:29915382 PMID:29987673 PMID:30202406 PMID:31589614 PMID:33270637 More...
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NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
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G |
Micall2 |
MICAL-like 2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
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NCBI chr12:14,899,151...14,927,949
Ensembl chr12:14,899,157...14,927,946
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G |
Mks1 |
MKS transition zone complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
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:23351400 PMID:23736532 PMID:24033266 PMID:24608809 PMID:24886560 PMID:25741868 PMID:25966130 PMID:26092869 PMID:26490104 PMID:26862157 PMID:27377014 PMID:27570071 PMID:28224992 PMID:28492532 PMID:28497568 PMID:29620724 PMID:30076350 PMID:30718709 PMID:31191208 PMID:33584783 PMID:34008892 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 |
Nphp1 |
nephrocystin 1 |
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ISO |
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 |
ClinVar |
PMID:24746959 PMID:25741868 PMID:28492532 |
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NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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G |
Ofd1 |
Ofd1 centriole and centriolar satellite protein |
|
ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:11179005 PMID:12595504 PMID:16199547 PMID:16311594 PMID:16783569 PMID:17576681 PMID:18414213 PMID:18546297 PMID:23033313 PMID:24476948 PMID:24884629 PMID:25741868 PMID:26092869 PMID:26467025 PMID:27081566 PMID:28289185 PMID:28492532 More...
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NCBI chr X:28,015,347...28,056,115
Ensembl chr X:28,015,347...28,056,110
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G |
Rpgrip1l |
Rpgrip1-like |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:19574260 PMID:19763152 PMID:20301500 PMID:20307669 PMID:21866095 PMID:22406018 PMID:22693042 PMID:23188109 PMID:23351400 PMID:24033266 PMID:25640679 PMID:25741868 PMID:26092869 PMID:27434533 PMID:27717089 PMID:28492532 PMID:29343940 PMID:29620724 PMID:29991045 More...
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NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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G |
Tctn1 |
tectonic family member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 |
CTD ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21725307 PMID:22693042 PMID:25741868 PMID:27894351 PMID:28492532 More...
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NCBI chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267
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G |
Tctn2 |
tectonic family member 2 |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21565611 PMID:22331178 PMID:24033266 PMID:25640679 PMID:25741868 PMID:26092869 PMID:28492532 PMID:28771248 More...
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NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
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G |
Tmem216 |
transmembrane protein 216 |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 PMID:22282472 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26673778 PMID:28492532 PMID:28497568 More...
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NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754
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G |
Tmem237 |
transmembrane protein 237 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
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G |
Tmem67 |
transmembrane protein 67 |
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ISO |
ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome |
ClinVar |
PMID:9375913 PMID:17377820 PMID:17397051 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:24033266 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28431631 PMID:28492532 PMID:29891882 More...
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NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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G |
Ttc21b |
tetratricopeptide repeat domain 21B |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 1 |
ClinVar |
PMID:21258341 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
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G |
Ofd1 |
Ofd1 centriole and centriolar satellite protein |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 10 DNA:duplication:exon:2122-2125dup (human) DNA:deletions:exon:c.2841_2847del, c.2767del (human) |
OMIM ClinVar RGD |
PMID:16783569 PMID:18546297 PMID:19800048 PMID:22353940 PMID:24884629 PMID:25741868 PMID:26092869 PMID:27081566 PMID:28492532 PMID:16783569 PMID:19800048 More...
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RGD:11535965, RGD:11535963 |
NCBI chr X:28,015,347...28,056,115
Ensembl chr X:28,015,347...28,056,110
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G |
Kif7 |
kinesin family member 7 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 12 |
ClinVar |
PMID:21633164 PMID:22246503 |
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NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576
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G |
Tctn1 |
tectonic family member 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 13 |
OMIM ClinVar |
PMID:16199547 PMID:18414213 PMID:21725307 PMID:22693042 PMID:25558065 PMID:25741868 PMID:26092869 PMID:26123494 PMID:26477546 PMID:27894351 PMID:28492532 More...
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NCBI chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267
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G |
C2cd6 |
C2 calcium dependent domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 14 |
ClinVar |
PMID:22152675 PMID:28492532 |
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NCBI chr 9:60,434,926...60,530,843
Ensembl chr 9:60,434,925...60,530,806
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G |
Mpp4 |
MAGUK p55 scaffold protein 4 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:60,569,734...60,613,035
Ensembl chr 9:60,569,734...60,611,797
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G |
Stradb |
STE20 related adaptor beta |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 14 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:60,414,182...60,433,084
Ensembl chr 9:60,414,182...60,433,084
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G |
Tmem237 |
transmembrane protein 237 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 14 |
OMIM ClinVar |
PMID:9536098 PMID:14760273 PMID:16199547 PMID:17576681 PMID:17603801 PMID:22152675 PMID:22981120 PMID:24033266 PMID:25558065 PMID:25741868 PMID:26092869 PMID:26673778 PMID:28492532 More...
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NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567
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G |
Cep41 |
centrosomal protein 41 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 15 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301500 PMID:21438139 PMID:22246503 PMID:25741868 PMID:28492532 PMID:29588463 PMID:30664616 More...
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NCBI chr 4:59,271,218...59,312,343
Ensembl chr 4:59,271,218...59,310,668
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G |
Tmem138 |
transmembrane protein 138 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 16 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:22282472 PMID:25741868 PMID:26092869 PMID:26489029 PMID:28492532 More...
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NCBI chr 1:207,219,113...207,226,159
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G |
Coq8a |
coenzyme Q8A |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 17 |
ClinVar |
PMID:18319074 PMID:24033266 PMID:25741868 PMID:28492532 |
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NCBI chr13:91,904,731...91,933,588
Ensembl chr13:91,904,739...91,931,431
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G |
Cplane1 |
ciliogenesis and planar polarity effector complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 17 DNA:missense mutation: :p.S235P (mouse) |
OMIM ClinVar RGD |
PMID:9536098 PMID:10488899 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20301500 PMID:22425360 PMID:23012439 PMID:23523602 PMID:24091540 PMID:24178751 PMID:25407461 PMID:25533962 PMID:25558065 PMID:25741868 PMID:25877302 PMID:25920555 PMID:26092869 PMID:26096313 PMID:27081551 PMID:27158779 PMID:27166760 PMID:27434533 PMID:27894351 PMID:28087721 PMID:28125082 PMID:28289185 PMID:28431631 PMID:28454995 PMID:28492532 PMID:29321670 PMID:29605658 PMID:30919572 PMID:31980526 PMID:34008892 PMID:25877302 More...
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RGD:11537349 |
NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
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G |
Crygd |
crystallin, gamma D |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 17 |
ClinVar |
PMID:19390652 PMID:22995991 PMID:25741868 PMID:28492532 |
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NCBI chr 9:66,442,054...66,443,668
Ensembl chr 9:66,442,054...66,444,067
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G |
Scn4a |
sodium voltage-gated channel alpha subunit 4 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 17 |
ClinVar |
PMID:7695243 PMID:9266738 PMID:18046642 PMID:20981092 PMID:25741868 PMID:28492532 More...
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NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
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G |
Tctn3 |
tectonic family member 3 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 18 |
OMIM ClinVar |
PMID:22883145 PMID:25741868 PMID:26092869 PMID:28492532 |
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NCBI chr 1:239,414,004...239,425,319
Ensembl chr 1:239,415,203...239,425,272
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G |
Tmem216 |
transmembrane protein 216 |
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ISO |
ClinVar Annotator: match by term: Cerebellooculorenal syndrome 2 | ClinVar Annotator: match by term: Joubert syndrome 2 DNA:misense mutation:exon:c.35G>T(p.R12L)(human) |
OMIM ClinVar RGD |
PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 PMID:22282472 PMID:23351400 PMID:24033266 PMID:25741868 PMID:26092869 PMID:26467025 PMID:26673778 PMID:28492532 PMID:28497568 PMID:20036350 More...
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RGD:11561919 |
NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754
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G |
Adat1 |
adenosine deaminase, tRNA-specific 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 20 |
ClinVar |
PMID:23012439 PMID:23349226 PMID:28492532 |
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NCBI chr19:39,918,083...39,956,886
Ensembl chr19:39,918,227...39,956,883
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G |
Cfdp1 |
craniofacial development protein 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 20 |
ClinVar |
PMID:28492532 |
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NCBI chr19:39,718,313...39,823,819
Ensembl chr19:39,718,347...39,823,824
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G |
Chst5 |
carbohydrate sulfotransferase 5 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 20 |
ClinVar |
PMID:23012439 PMID:27449316 PMID:28492532 |
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NCBI chr19:39,860,729...39,881,019
Ensembl chr19:39,860,501...39,881,064
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G |
Gabarapl2 |
GABA type A receptor associated protein like 2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 20 |
ClinVar |
PMID:23012439 PMID:23349226 PMID:28492532 |
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NCBI chr19:39,910,572...39,921,408
Ensembl chr19:39,910,534...39,924,628
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G |
Kars1 |
lysyl-tRNA synthetase 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 20 |
ClinVar |
PMID:23012439 PMID:23349226 PMID:28492532 |
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NCBI chr19:39,957,846...39,976,886
Ensembl chr19:39,957,846...39,977,632
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G |
Tmem170a |
transmembrane protein 170A |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 20 |
ClinVar |
PMID:23012439 PMID:27449316 PMID:28492532 |
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NCBI chr19:39,833,947...39,846,807
Ensembl chr19:39,833,980...39,846,783
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G |
Tmem231 |
transmembrane protein 231 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 20 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23012439 PMID:23349226 PMID:25640679 PMID:25741868 PMID:25869670 PMID:26477546 PMID:26489029 PMID:26982032 PMID:27449316 PMID:28289185 PMID:28492532 PMID:32055034 PMID:32386258 More...
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NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269
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G |
Arfgef1 |
ADP ribosylation factor guanine nucleotide exchange factor 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 21 |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24360803 PMID:24360807 PMID:24360808 PMID:25741868 PMID:26092869 PMID:28492532 More...
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NCBI chr 5:8,982,061...9,076,326
Ensembl chr 5:8,981,540...9,076,326
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G |
Cops5 |
COP9 signalosome subunit 5 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 21 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:9,192,233...9,210,498
Ensembl chr 5:9,192,100...9,210,731
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G |
Cspp1 |
centrosome and spindle pole associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 21 |
OMIM ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301500 PMID:24033266 PMID:24360803 PMID:24360807 PMID:24360808 PMID:25558065 PMID:25640679 PMID:25741868 PMID:26092869 PMID:27894351 PMID:28492532 PMID:29706646 More...
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NCBI chr 5:9,077,161...9,192,402
Ensembl chr 5:9,077,161...9,193,377
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G |
Mcmdc2 |
minichromosome maintenance domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 21 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:9,291,967...9,337,526
Ensembl chr 5:9,298,101...9,338,300
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G |
Ppp1r42 |
protein phosphatase 1, regulatory subunit 42 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 21 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:9,227,109...9,274,461
Ensembl chr 5:9,227,204...9,274,453
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G |
Snord87 |
small nucleolar RNA, C/D box 87 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 21 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:9,297,489...9,297,573
Ensembl chr 5:9,297,489...9,297,573
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G |
Tcf24 |
transcription factor 24 |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 21 |
ClinVar |
PMID:28492532 |
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NCBI chr 5:9,274,659...9,282,876
Ensembl chr 5:9,227,131...9,279,636
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G |
Alpg |
alkaline phosphatase, germ cell |
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ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
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NCBI chr 9:87,748,721...87,761,500
Ensembl chr 9:87,753,648...87,757,836
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G |
Alpi |
alkaline phosphatase, intestinal |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,773,411...87,776,877
Ensembl chr 9:87,773,411...87,776,877
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|
G |
Alpp |
alkaline phosphatase, placental |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,765,846...87,768,606
Ensembl chr 9:87,765,860...87,768,606
|
|
G |
Armc9 |
armadillo repeat containing 9 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,802,791...86,928,860
Ensembl chr 9:86,802,868...86,928,860
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|
G |
Atg16l1 |
autophagy related 16-like 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,420,737...88,457,530
Ensembl chr 9:88,422,038...88,457,529
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|
G |
B3gnt7 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,956,220...86,960,171
Ensembl chr 9:86,956,220...86,960,170
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|
G |
Cab39 |
calcium binding protein 39 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,463,008...86,524,545
Ensembl chr 9:86,463,095...86,524,544
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|
G |
Chrnd |
cholinergic receptor nicotinic delta subunit |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
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|
G |
Chrng |
cholinergic receptor nicotinic gamma subunit |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
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G |
Cops7b |
COP9 signalosome subunit 7B |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,238,132...87,263,967
Ensembl chr 9:87,238,375...87,263,967
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|
G |
Dgkd |
diacylglycerol kinase, delta |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,516,686...88,607,349
Ensembl chr 9:88,516,715...88,607,345
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|
G |
Dis3l2 |
DIS3-like 3'-5' exoribonuclease 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,355,409...87,736,616
Ensembl chr 9:87,356,457...87,736,616
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|
G |
Dnajb3 |
DnaJ heat shock protein family (Hsp40) member B3 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,795,542...88,796,555
Ensembl chr 9:88,795,488...88,796,560
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G |
Ecel1 |
endothelin converting enzyme-like 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,814,434...87,829,154
Ensembl chr 9:87,816,718...87,826,675
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G |
Efhd1 |
EF-hand domain family, member D1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,938,259...87,984,917
Ensembl chr 9:87,938,284...87,984,917
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|
G |
Eif4e2 |
eukaryotic translation initiation factor 4E family member 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,886,078...87,901,058
Ensembl chr 9:87,878,085...87,914,482
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G |
Gigyf2 |
GRB10 interacting GYF protein 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,001,212...88,127,040
Ensembl chr 9:88,001,301...88,125,715
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|
G |
Gpr55 |
G protein-coupled receptor 55 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,584,906...86,640,601
Ensembl chr 9:86,590,885...86,640,613
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|
G |
Hjurp |
Holliday junction recognition protein |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,853,379...88,867,730
Ensembl chr 9:88,853,386...88,867,728
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|
G |
Htr2b |
5-hydroxytryptamine receptor 2B |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,735,793...86,756,640
Ensembl chr 9:86,742,102...86,755,108
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|
G |
Itm2c |
integral membrane protein 2C |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,545,927...86,559,745
Ensembl chr 9:86,545,921...86,559,742
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|
G |
Kcnj13 |
potassium inwardly-rectifying channel, subfamily J, member 13 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,063,003...88,071,112
Ensembl chr 9:88,063,003...88,071,112
|
|
G |
LOC100362216 |
hypothetical protein LOC100362216 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,691,767...86,699,920
Ensembl chr 9:86,691,867...86,698,185
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|
G |
LOC120094883 |
small nucleolar RNA SNORD82 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,004,515...87,004,586
Ensembl chr 9:87,004,515...87,004,586
|
|
G |
LOC120094885 |
small nucleolar RNA SNORD20 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,001,068...87,001,147
Ensembl chr 9:87,001,068...87,001,147
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|
G |
Mroh2a |
maestro heat-like repeat family member 2A |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,814,515...88,862,346
Ensembl chr 9:88,814,197...88,852,607
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|
G |
Ncl |
nucleolin |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,999,588...87,008,112
Ensembl chr 9:86,998,019...87,008,136
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|
G |
Neu2 |
neuraminidase 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,218,494...88,267,356
Ensembl chr 9:88,249,135...88,267,355
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|
G |
Ngef |
neuronal guanine nucleotide exchange factor |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,146,956...88,244,454
Ensembl chr 9:88,146,956...88,244,914
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|
G |
Nmur1 |
neuromedin U receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,033,231...87,038,070
Ensembl chr 9:87,033,279...87,036,684
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|
G |
Nppc |
natriuretic peptide C |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251
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|
G |
Pde6d |
phosphodiesterase 6D |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
OMIM ClinVar |
PMID:9536098 PMID:17496142 PMID:17576681 PMID:24166846 PMID:25741868 PMID:28492532 PMID:30423442 More...
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NCBI chr 9:87,192,991...87,237,926
Ensembl chr 9:87,192,983...87,237,969
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|
G |
Prss56 |
serine protease 56 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978
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|
G |
Psmd1 |
proteasome 26S subunit, non-ATPase 1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,709,714...86,785,213
Ensembl chr 9:86,709,947...86,785,211
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G |
Ptma |
prothymosin alpha |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,176,251...87,180,333
Ensembl chr 9:87,176,230...87,180,333
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|
G |
Sag |
S-antigen visual arrestin |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820
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G |
Snorc |
secondary ossification center associated regulator of chondrocyte maturation |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,140,419...88,145,891
Ensembl chr 9:88,140,419...88,145,891
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G |
Sp100 |
SP100 nuclear antigen |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,310,990...86,377,036
Ensembl chr 9:86,311,032...86,377,034
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G |
Sp110 |
SP110 nuclear body protein |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,200,503...86,225,355
Ensembl chr 9:86,200,503...86,222,670
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G |
Sp140 |
SP140 nuclear body protein |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,224,472...86,274,724
Ensembl chr 9:86,224,513...86,274,542
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G |
Spata3 |
spermatogenesis associated 3 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:86,660,352...86,672,272
Ensembl chr 9:86,659,784...86,672,272
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G |
Spp2 |
secreted phosphoprotein 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:89,006,858...89,026,676
Ensembl chr 9:89,007,175...89,026,688
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G |
Tex44 |
testis expressed 44 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:87,075,684...87,077,102
Ensembl chr 9:87,075,684...87,077,102
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|
G |
Trpm8 |
transient receptor potential cation channel, subfamily M, member 8 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,897,039...88,990,167
Ensembl chr 9:88,903,880...88,988,552
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G |
Ugt1a1 |
UDP glucuronosyltransferase family 1 member A1 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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G |
Ugt1a2 |
UDP glucuronosyltransferase 1 family, polypeptide A2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,791,216...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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G |
Ugt1a3 |
UDP glycosyltransferase 1 family, polypeptide A3 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,780,328...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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G |
Ugt1a5 |
UDP glucuronosyltransferase family 1 member A5 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,762,250...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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G |
Ugt1a6 |
UDP glucuronosyltransferase family 1 member A6 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,747,229...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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|
G |
Ugt1a9 |
UDP glucuronosyltransferase family 1 member A9 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,696,981...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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|
G |
Usp40 |
ubiquitin specific peptidase 40 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 22 |
ClinVar |
PMID:28492532 |
|
NCBI chr 9:88,607,920...88,678,940
Ensembl chr 9:88,607,930...88,678,914
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|
G |
Arid4a |
AT-rich interaction domain 4A |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 23 |
ClinVar |
PMID:26096313 PMID:26166481 PMID:26386044 PMID:28492532 |
|
NCBI chr 6:89,522,463...89,593,868
Ensembl chr 6:89,522,442...89,593,510
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|
G |
LOC690035 |
similar to Protein KIAA0586 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 23 |
OMIM ClinVar |
PMID:2080096 PMID:2609613 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301500 PMID:24033266 PMID:25741868 PMID:26026149 PMID:26096313 PMID:26166481 PMID:26386044 PMID:26386247 PMID:26437029 PMID:26938784 PMID:28125082 PMID:28492532 PMID:28497568 PMID:29068549 PMID:30120217 PMID:32381069 PMID:32581362 More...
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|
NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962
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G |
Psma3 |
proteasome 20S subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 23 |
ClinVar |
PMID:26096313 PMID:26166481 PMID:26386044 PMID:28492532 |
|
NCBI chr 6:89,483,741...89,503,775
Ensembl chr 6:89,483,727...89,504,965
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|
G |
Timm9 |
translocase of inner mitochondrial membrane 9 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 23 |
ClinVar |
PMID:26096313 PMID:26166481 PMID:26386044 PMID:28492532 |
|
NCBI chr 6:89,610,094...89,622,924
Ensembl chr 6:89,610,094...89,622,924
|
|
G |
Tomm20l |
translocase of outer mitochondrial membrane 20 like |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 23 |
ClinVar |
PMID:26096313 PMID:26166481 PMID:26386044 PMID:28492532 |
|
NCBI chr 6:89,594,016...89,612,070
Ensembl chr 6:89,599,873...89,610,147
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|
|
G |
Atp6v0a2 |
ATPase H+ transporting V0 subunit a2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 24 |
ClinVar |
PMID:25741868 PMID:28492532 |
|
NCBI chr12:31,949,863...31,979,777
Ensembl chr12:31,822,733...32,007,069
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G |
Tctn2 |
tectonic family member 2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 24 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:21462283 PMID:21565611 PMID:22331178 PMID:25118024 PMID:25741868 PMID:26092869 PMID:28492532 More...
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NCBI chr12:31,982,440...32,007,242
Ensembl chr12:31,822,733...32,007,069
|
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G |
Acap3 |
ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,500,781...166,515,477
Ensembl chr 5:166,500,781...166,515,481
|
|
G |
Actrt2 |
actin-related protein T2 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629
|
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G |
Agrn |
agrin |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003
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|
G |
Ankrd65 |
ankyrin repeat domain 65 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953
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|
G |
Arhgef16 |
Rho guanine nucleotide exchange factor 16 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:164,843,656...164,866,212
Ensembl chr 5:164,844,161...164,866,212
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|
G |
Atad3a |
ATPase family, AAA domain containing 3A |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 |
|
NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
|
|
G |
B3galt6 |
Beta-1,3-galactosyltransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Joubert syndrome 25 |
ClinVar |
PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PM |