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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 |
|
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 |
|
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 |
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ISO |
DNA:missense, deletion, nonsense mutations:cds: ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar RGD |
PMID:8298649 PMID:9536098 PMID:11285252 PMID:11567139 PMID:11886943 PMID:12016587 PMID:12524598 PMID: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 |
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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 1:202,734,555...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 |
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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 1:202,643,009...202,652,059
Ensembl chr 1:202,643,038...202,651,824
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G |
Ccdc28b |
coiled coil domain containing 28B |
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ISO |
DNA:mutation:exon:430C>T(human) ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar RGD |
PMID:12677556 PMID:16327777 PMID:29127258 PMID:16327777 |
RGD:9685059 |
NCBI chr 5:141,962,275...141,967,278
Ensembl chr 5:141,962,276...141,967,382
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G |
Ccdc85b |
coiled-coil domain containing 85B |
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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 1:202,763,645...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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
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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 1:203,143,216...203,163,868
Ensembl chr 1:203,143,218...203,163,870
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G |
Gal3st3 |
galactose-3-O-sulfotransferase 3 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID: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 |
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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 1:203,525,952...203,527,271
Ensembl chr 1:203,526,122...203,527,270
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G |
Htr2b |
5-hydroxytryptamine receptor 2B |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:29127258 |
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NCBI chr 9:86,735,793...86,756,640
Ensembl chr 9:86,742,102...86,755,108
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G |
Ift172 |
intraflagellar transport 172 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:24033266 PMID:24140113 PMID:25168386 |
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NCBI chr 6:25,081,933...25,121,271
Ensembl chr 6:25,081,980...25,120,860
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G |
Ift27 |
intraflagellar transport 27 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID: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 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 3:124,406,794...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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G |
Kat5 |
lysine acetyltransferase 5 |
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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 1:202,895,751...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 |
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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 1:202,988,801...202,992,842
Ensembl chr 1:202,990,198...202,992,872
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G |
Klc2 |
kinesin light chain 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 1:202,414,555...202,424,787
Ensembl chr 1:202,414,557...202,424,672
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G |
Klhl41 |
kelch-like family member 41 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID: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 |
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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 |
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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 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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G |
Majin |
membrane anchored junction 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 1:203,487,777...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 |
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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 1:202,975,353...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 |
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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 1:203,645,098...203,660,515
Ensembl chr 1:203,645,153...203,660,331
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G |
Mdh1 |
malate dehydrogenase 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr14:95,630,625...95,645,920
Ensembl chr14:95,630,306...95,645,925
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G |
Men1 |
menin 1 |
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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 |
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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 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
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G |
Mir194-2 |
microRNA 194-2 |
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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 1:203,564,761...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 |
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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 1:202,264,419...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 |
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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 1:202,790,295...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 |
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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 1:203,400,632...203,414,195
Ensembl chr 1:203,400,631...203,414,195
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G |
Npas4 |
neuronal PAS domain protein 4 |
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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 1:202,281,260...202,298,681
Ensembl chr 1:202,281,958...202,286,724
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G |
Nphp1 |
nephrocystin 1 |
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ISO |
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RGD |
PMID:24746959 |
RGD:11352646 |
NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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G |
Otx1 |
orthodenticle homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr14:96,082,151...96,089,161
Ensembl chr14:96,082,151...96,089,086
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G |
Ovol1 |
ovo like transcriptional repressor 1 |
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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 1:202,855,261...202,868,858
Ensembl chr 1:202,855,265...202,866,831
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G |
Pacs1 |
phosphofurin acidic cluster sorting protein 1 |
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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 1:202,437,503...202,569,473
Ensembl chr 1:202,437,505...202,569,473
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G |
Pcnx3 |
pecanex 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 1:202,951,322...202,974,167
Ensembl chr 1:202,951,322...202,976,561
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G |
Peli1 |
pellino E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr14:95,254,274...95,309,168
Ensembl chr14:95,254,589...95,308,285
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G |
Peli3 |
pellino E3 ubiquitin protein ligase family member 3 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:8316268 PMID: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 |
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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 1:203,227,183...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 |
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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 1:203,527,268...203,535,442
Ensembl chr 1:203,527,270...203,535,416
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G |
Psmd1 |
proteasome 26S subunit, non-ATPase 1 |
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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 |
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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 |
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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 1:203,690,550...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 |
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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 1:203,414,181...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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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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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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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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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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Trappc3 |
trafficking protein particle complex subunit 3 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
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NCBI chr 5:138,559,238...138,572,825
Ensembl chr 5:138,557,754...138,572,819
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Trim32 |
tripartite motif-containing 32 |
susceptibility |
ISO |
DNA:missense mutation:exon:p.P130S ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar RGD |
PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 PMID:16606853 PMID:17994549 PMID: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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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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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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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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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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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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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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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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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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Zc3h14 |
zinc finger CCCH type containing 14 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:28492532 |
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NCBI chr 6:118,006,420...118,044,480
Ensembl chr 6:118,006,458...118,044,105
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Zdhhc24 |
zinc finger, DHHC-type containing 24 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome |
ClinVar |
PMID:9536098 PMID:10564830 PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:12920096 PMID:15314642 PMID: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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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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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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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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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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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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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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Bbs10 |
Bardet-Biedl syndrome 10 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 |
ClinVar |
PMID:16582908 PMID:17106446 PMID: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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Bbs12 |
Bardet-Biedl syndrome 12 |
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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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Bbs2 |
Bardet-Biedl syndrome 2 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 |
ClinVar |
PMID:12524598 PMID:22025579 PMID:24349080 PMID:24793135 PMID:25741868 PMID:26467025 PMID:28492532 More...
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NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
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Bbs4 |
Bardet-Biedl syndrome 4 |
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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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Bbs7 |
Bardet-Biedl syndrome 7 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 2:119,434,760...119,474,665
Ensembl chr 2:119,434,760...119,474,396
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Bbs9 |
Bardet-Biedl syndrome 9 |
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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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Ccdc28b |
coiled coil domain containing 28B |
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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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Lztfl1 |
leucine zipper transcription factor-like 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 |
ClinVar |
PMID:23692385 |
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NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192
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Mkks |
MKKS centrosomal shuttling protein |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1, modifier of |
ClinVar |
PMID:12837689 |
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NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
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Stx3 |
syntaxin 3 |
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ISO |
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RGD |
PMID:26216965 |
RGD:11532386 |
NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805
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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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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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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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Bbs2 |
Bardet-Biedl syndrome 2 |
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ISO |
ClinVar Annotator: match by term: Bardet-biedl syndrome 1/2, digenic |
ClinVar |
PMID:11285252 PMID:11567139 PMID:19402160 PMID:20177705 PMID:20498079 PMID:21344540 PMID:21642631 PMID:22410627 PMID:23829372 PMID:24608809 PMID:25541840 PMID:25741868 PMID:26518167 PMID:28492532 More...
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NCBI chr19:10,909,653...10,944,998
Ensembl chr19:10,909,619...10,944,993
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Bbs7 |
Bardet-Biedl syndrome 7 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 1/7, digenic |
ClinVar |
PMID:12567324 PMID:20498079 PMID:21642631 PMID:22500027 PMID:23572516 PMID:28492532 More...
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NCBI chr 2:119,434,760...119,474,665
Ensembl chr 2:119,434,760...119,474,396
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Bbs10 |
Bardet-Biedl syndrome 10 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 |
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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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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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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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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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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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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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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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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Akt3 |
AKT serine/threonine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 |
ClinVar |
PMID:28492532 |
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NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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Pde11a |
phosphodiesterase 11A |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 |
ClinVar |
PMID:16767104 PMID:19671705 PMID:20351491 PMID:21047926 PMID:24033266 PMID:25741868 PMID:27535533 PMID:28492532 More...
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NCBI chr 3:60,913,562...61,297,154
Ensembl chr 3:60,913,562...61,297,158
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Sdccag8 |
SHH signaling and ciliogenesis regulator SDCCAG8 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 16 |
OMIM ClinVar |
PMID: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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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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Stx3 |
syntaxin 3 |
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ISO |
protein:increased expression:photoreceptor outer segment layer |
RGD |
PMID:26216965 |
RGD:11532386 |
NCBI chr 1:208,617,018...208,686,240
Ensembl chr 1:208,639,115...208,685,805
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Stxbp1 |
syntaxin binding protein 1 |
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ISO |
protein:increased expression:photoreceptor outer segment layer |
RGD |
PMID:26216965 |
RGD:11532386 |
NCBI chr 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369
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Bbip1 |
BBSome interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 18 |
OMIM ClinVar |
PMID: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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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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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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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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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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Mkks |
MKKS centrosomal shuttling protein |
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ISO |
ClinVar Annotator: match by term: Bardet-biedl syndrome 2/6, digenic |
ClinVar |
PMID:10802661 PMID:10973251 PMID:11567139 PMID:18094050 PMID:20177705 PMID:20226561 PMID:20498079 PMID:21209035 PMID:22446187 PMID:25741868 PMID:25982971 PMID:28492532 More...
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NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
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Ift172 |
intraflagellar transport 172 |
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ISO |
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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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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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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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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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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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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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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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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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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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Mkks |
MKKS centrosomal shuttling protein |
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ISO |
ClinVar Annotator: match by term: Bardet-Biedl syndrome 6 |
OMIM ClinVar |
PMID:9536098 PMID:10802661 PMID:10973238 PMID:10973251 PMID:11179009 PMID:11567139 PMID:12107442 PMID:12920096 PMID:15637713 PMID:15731008 PMID:17576681 PMID:18094050 PMID:20080638 PMID:20177705 PMID:20226561 PMID:20472660 PMID:20498079 PMID:21209035 PMID:22446187 PMID:22500027 PMID:25741868 PMID:25982971 PMID:26900326 PMID:27491411 PMID:28492532 PMID:28761321 PMID:29127258 More...
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NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162
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Bbs10 |
Bardet-Biedl syndrome 10 |
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ISO |
ClinVar Annotator: match by term: Bardet-biedl syndrome 6/10, digenic |
ClinVar |
PMID:16582908 PMID:20120035 PMID:20805367 PMID: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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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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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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